Inspiring life despite a diagnosis: Recent Episodes
Orange Socks
Erick found out shortly after birth that his daughter Erika has Down syndrome. Erick believes that Erika has made him a better, more patient person and parent.
Finding out your daughter has Down syndrome
Erick didn’t find out about her diagnosis until after she was born.
Erick said, “Maybe five minutes in. I remember the doctor, she actually said “I don’t know but it seems like your daughter might have Down syndrome. I have a feeling from what I’m seeing.” My reaction was “okay, she can be wrong, or she can be right, but she looks healthy so that’s fine.”
But then, when it really hit me was when I looked at my wife and I saw her face. She was freaking out, she was silent. She is really good at controlling her emotions, but yeah, I still remember her eyes when she looked at me and that really hurt. That hit me like a ton of bricks, that is when I realized yeah, we may have a problem here.”
Ongoing medical issues
Erick’s family was very supportive. They didn’t care if Erika had Down syndrome or not, the problem wasn’t her Down syndrome but her other health challenges. Erick explained, “The issue was that she was not digesting her milk. So basically, she was regurgitating constantly, and we were like “why is she doing that?” and she started losing weight and it got to the point where the doctor told us “Something is wrong.”
He continued, “They ran tests, and they were pretty blunt, they told us “She might die.” Erika had a successful microsurgery that cleared a blockage in her duodenal passage that allowed the milk to be absorbed. She continued to have health problems as time went on. Erika developed something called Thrombocytopenia. Erick said, “there is this agent in the blood that she lacked at the time. That agent basically keeps you from bleeding through your pores. So, it seems like she had a little rash, when I reality she was basically bleeding at a microscopic level.”
That has since cleared up, but she now has hypothyroidism.
How their other children have been affected
Erika is Erick’s third child. Erick explains how Erika’s birth affected her older siblings.
“Well Wendy was one year older than Erika was so Wendy didn’t understand. Wendy was born with Asperger’s. At the moment, we had no idea that she had Asperger’s. But Keira the oldest she was in love with her. I still remember she brought her this little plushie pink baby toad and it reminded me of her. When Erika was born, she had this pinkish hue to her skin, so we said, “Oh this kind of looks like you.” And we were always playing with her. But she loved her little sister and even to this day you know she takes care of her, and they have a good bond. It is a beautiful thing.”
The joys of a Down syndrome diagnosis
Erick said, “Everything collided in this harmonious way. A lot of things that were amiss, and situations with other family members, everything came together. She brought that type of harmony into our home and to this day she is the light of this house. She is always making us laugh, she sees that, and she is pretty intuitive. If she sees that someone is sad or something, she will approach you and do or say something just to make you smile.
Advice for a parent with a Down syndrome diagnosis
Erick wants people to experience being with a beautiful person who is full of joy and love.
He said, “If I were able to build a time machine I would go back and tell myself, “Brother you have won the lottery.” And I would love to tell people watching us right now that these children will bring more joy to your life than anything negative that you might be thinking in your mind. Let the fear go. Because this situation is only going to make you a better human being. It is only going to make your family come together as nothing else can. The moment that you don’t see your child even if it’s because you’re on a trip or a business trip or whatever, you miss them so much.
He continued saying, “If you are a parent that is actually thinking that maybe you shouldn’t have this child and you are scared, which is normal, don’t be. Just let them come. They will change your life for the better. Don’t miss out on that opportunity because you will regret it if you do and as a friend I really hope that you don’t have to go through that pain, the pain of knowing that you could have been surrounded by a beautiful being that is full of joy and love and nothing will be able to basically supply that source of happiness and have that baby, take care of them.”
Daniel and his wife spent 11.5 years of their life devoted to taking care of their son Lucas. Lucas had a very rare condition called Menkes disease. Despite being total care, Lucas brought love, joy and happiness to their family.
Menkes syndrome: Daniel’s Story
What is Menkes disease?
Menkes disease is a disorder that affects copper levels in the body. Menkes disease is characterized by sparse, kinky hair which is known to break easily, failure to thrive, seizures and deterioration of the nervous system. People who have Menkes disease have a life expectancy of three to ten years.
Finding out your son has Menkes disease
Daniel shared his experience about learning his son had Menkes disease. After Lucas missed milestones around nine months old, they sought help. They were told to see a geneticist who thought because of Lucas’ unique hair texture that he had a copper related disorder.
After meeting with him Daniel said, “I went home and Googled copper related syndromes and there are two. Wilson’s disease is when you have too much copper, but you can live a long life and manage it. There are three or four medications for it now, so I was rooting for Wilson’s disease. The other is Menkes disease where you have not enough copper and you live a very short life and it is full of challenges; like he probably won’t walk, talk, or sit unassisted and those were all true for Lucas. Seizures are indicated, we didn’t see very many with Lucas. So, sure enough within a few months the diagnosis came back and that is a blessing in a way that the diagnostic odyssey was short, but it’s bad news.
Dealing with a terminal diagnosis
They were told Lucas’ life expectancy was between three to ten years. Upon hearing about his diagnosis Daniel talked about his experience. He said, “It changed everything you know, and he was one years old when we got the diagnosis, and everything changed. We thought for a while that there would be no happiness or joy or none of the normal expectations of what you thought your life with your child would be, everything seemed to get derailed.”
When asked if they grieved after finding out Lucas’ diagnosis, Daniel said, “And then there is the grief of all these little things. The realization that he won’t play sports, you grieve that a little bit, or they say he will never talk.”
He continued saying, “I’m still going through the grieving process….And since then, I’ve come to find out all these subcategories of grief that we were going through. There is anticipatory grief because you know that he will die before us, the prognosis was three-ten years and in our case, he lived 11 and a half years.”
Taking care of someone with Menkes disease
Daniel shared the daily schedule of caring for Lucas. Lucas would wake up at seven AM. He would have his daily meds that were timed with each meal, had a catheter every three hours, diaper changed, and be fed through his G-tube. There were small pockets of time throughout the day where he didn’t require active care.
Lucas was lucky, he had a loving nurse who helped take care of him for eight years. She would take care of Lucas when he came home from school until he went to bed at seven PM. Daniel described having the nurse as a huge help. He said, “..it was a burden off us”
Impact of having a child with Menkes disease
Lucas had a younger brother, Daniel described how Lucas impacted his life. He said, “Now for his younger brother he never knew anything other than life with Lucas who had a different path and special needs and high complex medical care. I think it made him very compassionate, caring and very concerned.”
For Daniel and his wife, Lucas taught them to slow down and accept things for the way they are. “It’s an odd thing to say, and then for my wife and I too, I think we had to slow down, we had to calm down, we had to accept things that weren’t the way we wanted them to be. It really became a lot of those aphorisms you hear all the time. Like “No one is guaranteed tomorrow”, or ‘Live for the moment, or ‘Don’t sweat the small stuff’. We felt an extra permission to live that way and tried to.”
Brittney and Derik share what SHINE syndrome is and how it has made an impact in their life. Their daughter has been a joy in their life despite some of the difficulties that come when having a child with SHINE syndrome.
SHINE syndrome: Brittney and Derik’s Story
What is SHINE syndrome?
SHINE syndrome stands for sleep disturbances, hypotonia, intellectual disabilities, neurological delays, and epilepsy. There are only 150 known cases world wide, making the disability extremely rare.
Brittney, a parent of a child diagnosed with SHINE, said, “We think that there are a lot more that are under-diagnosed with either autism or epilepsy. A lot of children with SHINE do have either one or both.”
Early signs of SHINE
The first thing Brittney and Derik noticed was that their daughter was diagnosed with torticollis. “Her head was basically stuck in one direction; she would constantly look that way…that cleared up with physical therapy and then she was still developmentally delayed at that point,” Brittney recalled.
She continued saying that she wasn’t interested in toys, and she wasn’t rolling over. This was atypical for infants. When compared to her two neurotypical boys, Brittney and Derik knew something was wrong.
SHINE syndrome is a spectrum disorder
After being diagnosed when their daughter was two years old, Brittney joined a SHINE Facebook group for parents. She learned that each child’s disorder was unique because of the wide range of abilities and assistance needed.
“Some of them don’t walk, some of them don’t talk and then some of them did and then they regressed..A lot of kids will have a seizure for instance and lose progress in their development.” Brittney said.
Some children are total care, which means every aspect of the child’s life requires assistance, and others are independent. There is one known case of a father with SHINE syndrome who has a child with SHINE as well.
Getting SHINE diagnosed
After doing a genetic test on their daughter, Derik and Brittney were glad they found answers. Derik said, “We definitely wanted to know what was going on with her..so, it was kind of comforting to know what the diagnosis was and what was going to be happening and just be able to help her treat that was a good thing too. And knowing what we were going to be able to have an answer going forward to be able to address what was going on.”
Brittney shared, “We have this answer of a reason why she is having all these difficulties and it brings us all hope that hopefully one day be able to support each other in the SHINE community and hopefully be able to help more families be able to know.”
The joys of SHINE syndrome
“I think just the light that she brings, she is really joyful, she just makes you happy to see her smile. She gives people hugs, she just runs up to strangers and gives people hugs and says hi to them. She really is just joyful to be around, so I really enjoy her presence. Just being around her lights up everything in the world and the people around her.” Derik shared.
Advice for parents of children with SHINE syndrome
Brittney’s advice to parents is to do your research and be prepared to educate your doctors. Most doctors are unfamiliar with SHINE syndrome because of how rare it is.
Brittney said, “ A lot of the doctors that I see are like, ‘what is it?’ or I tell them now, look it up ahead of time, this is what my daughter has so that they are pre alerted so they know and they can research a little bit, because there are some articles and some research that has been done. It’s minimal but there is a little bit.
She also advised to be involved in the SHINE community. They have a great support system through the community. They have meetings once a month where they can meet and pick each other’s brains about issues or concerns they are having. This has become a great source of information for Brittney and Derik.
Brittney shared, “I’ve learned more I think about SHINE during those informal meetings from other parents’ questions and there are some more experienced parents with the SHINE syndrome that will answer and give us some advice on how to navigate different things.”
When Wendy first found out that she had a son with Down syndrome she was devastated. She felt as if her life was over and didn’t know what life would look like for their future. 32 years later she now realizes how great her life is with her son Matt in it.
My life is ruined
When Matt was 3 hours old, Wendy recalls her experience, “Yeah well so a lot of emotions, a ton of emotions. I think every emotion known was going through. I experienced um shock, fear, trauma, devastation, anger, what did I do?, um why me?, All of those because what I did know about Down syndrome I was afraid that my life had just been ruined.”
After a few days in the NICU Matt was able to go home. Wendy shared what leaving the hospital was like, “The truth is by the time I left the hospital I had bonded with him..so we stayed in the hospital with him and I you know had a lot of time just he and I, when the nurses would bring him in to me I couldn’t see all of those abnormalities..all I could see was this perfect little baby.”
Proving the naysayers wrong
Wendy had one goal when she left the hospital: to prove the naysayers wrong. She shared what goals and hopes and dreams she had for Matt. She said, “So we walked out of the hospital doors and I had these goals, he was going to drive, he was going to work, he was going to get married, he was going to finish high school, he was going to date, he was going to do all these things.”
After 32 years Wendy shared, “He’s done things that even I, I’ve underestimated in my own son you know. But at the same time we had to shift those goals and dress that I have for when I walked out of the hospital, we just created new goals and dreams.”
Fighting the school system
One of the hardest things Wendy had to do for Matt was fighting to get a good education. She explained that while she wanted him to be mainstreamed she understood that Matt needed a different approach to learning. He attended a cluster classroom. The downside to the cluster classrooms was the inconsistency. Each year the cluster classroom would switch locations.
Wendy said, “So for us the cluster worked well. It was just unfortunate that it moved from school to school and so every year it was him getting to know a whole new set of other students and teachers and staff.”
The cluster classrooms weren’t the other issue Wendy and Matt faced while working with the school system, She said, “They even went as far as trying to guilt me into backing off because my request was taking away from another child’s need.”
It would take too long to talk about the joys
Wendy said “..there is joy in everything you know we celebrate. I did not know this life would be a life of celebration. We celebrated when he learned to tie his shoes, when he learned to button up his pants..there are hoys in watching him accomplish what he wants to do..you can’t even pinpoint all of the joys.”
“You’re in for a wonderful ride, you know this, I know it’s hard to believe this right now but trust me this life is going to be amazing.”
Finding a great man
For many years Wendy was a single mom. She felt as if she would be alone forever. She was hesitant to date anyone for fear of rejection for both her and Matt. However, once she accidentally met John their lives changed for the better.
“John is awesome, he came into my life just when I needed him and when it became serious and I felt brave enough to introduce him to matt..I mean we’ve been together for a good 25 years nd so he and Matt are like buds..they just go hang out..i just love watching how he treats my son.” Wendy shared.
Writing a book from life experiences
Wendy took all of her life experiences and situations and was able to write them as a book to help other parents going through what she did. She said, “Every chapter is a story and it’s a situation he’s put me in whether it’s embarrassing or in a learning opportunity..so what I’ve done is tried to make it a book of humor because in this life we need to laugh.”
Wendy’s book is called, ‘Big People Don’t Pee in the Park: A Mother and Son’s Journey with Down syndrome’. It was published October 3 2023 just in time for Down syndrome awareness month.
During a routine ultrasound, Madison and Ty found there was something was wrong with their baby boy. When they went to the specialist, they were told their baby’s bladder was large, and his kidneys were covered in cysts and had little to no function- a condition that is incompatible with life.
Devastated, Madison thought about the possibility of carrying their son as long as she could, so they could donate his organs. They learned to qualify for organ donation, he had to be carried to 36 weeks’ gestation, and weigh at least 6 pounds- this became their goal.
After delivery, their son, who they named Cameron, was placed on Madison's chest and she said it was “the most magical, best feeling in the whole world.” Doctors confirmed there was nothing they could do to intervene. Madison and Ty said they were confident Cameron didn’t feel any pain, and it was the best decision for them.
Ty said that when he got to hold Cameron that “it was perfect, the world was perfect, everything was right.” Cameron lived for two hours and 43 minutes and Ty says, “for two hours and 43 minutes the world was perfect.”
When asked how that experience changed their lives, Madison said “it puts everything into perspective, our lives are so short. I want to be so positive; I want everybody that knows me to feel my love for my son.” Ty said that it had helped him to appreciate time and people more. He said, “I felt a new kind of love that I didn’t know existed, and that was special, it was so special.” Ty said advice he would give is that “your wife probably knows best. She has the closest connection, and she knows things that you don’t know or can’t experience, and you should trust her. I chose that whatever my wife would like to do, is what we are doing do. And that was the greatest decision that I’ve ever made. He said you get to experience good things out of it. Do your research, listen to your doctors they have a valued opinion, they are looking out for you as their patient, but this is your life.” Madison says the best advice she can give is to just acknowledge that it’s the worst thing in the world. For somebody in that situation, I would say I’m always here. I know it’s terrible but I’m always here.
Ty and Madison loves to talk about Cameron. They want to take every opportunity to talk about him. Ty says "everyone apologizes and says, “oh I’m so sorry I didn’t know you lost your son.” Which he replies “don’t apologize, let me tell you about him.”
First signs something was wrong
Erika and Steve first noticed something was different with their son Blaise when he was 18 months old. Erika recalled, “He went to daycare and we would go in and notice that all the kids are playing in one area and he's over to an area by himself. He always did individual play.”
That wasn't the only thing she noticed. She shared that one of the most telling signs that something was wrong was when she dropped Blaise off at daycare. The other children would cry for their moms with intention and Blaise would just cry. “He wouldn't cry for me, he wouldn't cry Mama Mama.” Erika recalled.
Steve noticed Blaise was delayed in speech and was missing developmental milestones. He noticed a few more things which he shared saying, “Some of the behaviors, he would get fixated on say ipad or you know one particular thing and then he would stay on it. He also made these peculiar noises like all day long.”
After searching on google, Steven thought that Blaise had some of the same signs and symptoms of someone who has Autism.
Getting an ASD diagnosis
Most doctors will not give an autism diagnosis at 18 months. Erika and Steven were able to get connected with a company that helped Blaise get early intervention services as well as getting into a developmental preschool.
After Blaise attended the preschool for a little bit, Erika and Steven worked with another company to get a formal diagnosis when Blaise was 2.5 years old.
Being labeled as ASD was the fear
Erika shared an interesting perspective about receiving her son's diagnosis. By the time he was formally diagnosed she shared that her and Steven had already accepted the fact Blaise was different and had autism. Erika was afraid of what a formal diagnosis would mean for the care Blaise would receive.
She shared, “My biggest fear, I didn't want to get a diagnosis, even though we believed he had autism because in my mind I didn't want them to stick him in a box.”
She continued, “Once he was labeled then that's all the care he's going to get. He was only going to get autism care and an autism teacher…and it's a bigger world than that and I wanted him to have all the exposure that he could have.”
To help ensure Blaise wasn’t put in a box, Erika started working at the school Blaise was enrolled in. She gave a great example of how she has helped keep Blaise progressing. She shared, “Because he has autism and because he has sensory issues..they put headphones on him, because that's what he needs. When we have assemblies, I go in the assemblies and I take the headphones off…let's see if he can push through it. Don’t just give it to him because he has autism.”
Steve shared that he feels like when some parents have a diagnosis, they automatically put up a glass ceiling of what their child is capable of. Not even trying things because of the child’s label. “We wanted to treat him as regular as possible, give him the same experiences as regular children.”
Loving your child for who they are
Regardless of his disability, Steve said that he and Erika have loved, supported, and accepted Blaise for who he is. He said, “Don't give up, once you get that diagnosis, it's not a death sentence. Just focus on the early intervention, focus on the things that you can control and then eventually things turn out ok.”
Erika and Steve both shared their joys of having Blaise as a son, Erika shared, “Just when he meets those little milestones…he had to work four times harder to do something that comes naturally to someone else.”
Steve shared his joy saying, “I remember the first time he walked up to me with no prompts or anything and said, “Daddy I love you.” He looked me dead in the eye, and I was like “wow”.” Being able to see Blaise work towards a goal and accomplish it has been very rewarding for both Erika and Steve.
First signs something was wrong
Erika and Steve first noticed something was different with their son Blaise when he was 18 months old. Erika recalled, “He went to daycare and we would go in and notice that all the kids are playing in one area and he's over to an area by himself. He always did individual play.”
That wasn't the only thing she noticed. She shared that one of the most telling signs that something was wrong was when she dropped Blaise off at daycare. The other children would cry for their moms with intention and Blaise would just cry. “He wouldn't cry for me, he wouldn't cry Mama Mama.” Erika recalled.
Steve noticed Blaise was delayed in speech and was missing developmental milestones. He noticed a few more things which he shared saying, “Some of the behaviors, he would get fixated on say ipad or you know one particular thing and then he would stay on it. He also made these peculiar noises like all day long.”
After searching on google, Steven thought that Blaise had some of the same signs and symptoms of someone who has Autism.
Getting an ASD diagnosis
Most doctors will not give an autism diagnosis at 18 months. Erika and Steven were able to get connected with a company that helped Blaise get early intervention services as well as getting into a developmental preschool.
After Blaise attended the preschool for a little bit, Erika and Steven worked with another company to get a formal diagnosis when Blaise was 2.5 years old.
Being labeled as ASD was the fear
Erika shared an interesting perspective about receiving her son's diagnosis. By the time he was formally diagnosed she shared that her and Steven had already accepted the fact Blaise was different and had autism. Erika was afraid of what a formal diagnosis would mean for the care Blaise would receive.
She shared, “My biggest fear, I didn't want to get a diagnosis, even though we believed he had autism because in my mind I didn't want them to stick him in a box.”
She continued, “Once he was labeled then that's all the care he's going to get. He was only going to get autism care and an autism teacher…and it's a bigger world than that and I wanted him to have all the exposure that he could have.”
To help ensure Blaise wasn’t put in a box, Erika started working at the school Blaise was enrolled in. She gave a great example of how she has helped keep Blaise progressing. She shared, “Because he has autism and because he has sensory issues..they put headphones on him, because that's what he needs. When we have assemblies, I go in the assemblies and I take the headphones off…let's see if he can push through it. Don’t just give it to him because he has autism.”
Steve shared that he feels like when some parents have a diagnosis, they automatically put up a glass ceiling of what their child is capable of. Not even trying things because of the child’s label. “We wanted to treat him as regular as possible, give him the same experiences as regular children.”
Loving your child for who they are
Regardless of his disability, Steve said that he and Erika have loved, supported, and accepted Blaise for who he is. He said, “Don't give up, once you get that diagnosis, it's not a death sentence. Just focus on the early intervention, focus on the things that you can control and then eventually things turn out ok.”
Erika and Steve both shared their joys of having Blaise as a son, Erika shared, “Just when he meets those little milestones…he had to work four times harder to do something that comes naturally to someone else.”
Steve shared his joy saying, “I remember the first time he walked up to me with no prompts or anything and said, “Daddy I love you.” He looked me dead in the eye, and I was like “wow”.” Being able to see Blaise work towards a goal and accomplish it has been very rewarding for both Erika and Steve.
First signs something was wrong
Erika and Steve first noticed something was different with their son Blaise when he was 18 months old. Erika recalled, “He went to daycare and we would go in and notice that all the kids are playing in one area and he's over to an area by himself. He always did individual play.”
That wasn't the only thing she noticed. She shared that one of the most telling signs that something was wrong was when she dropped Blaise off at daycare. The other children would cry for their moms with intention and Blaise would just cry. “He wouldn't cry for me, he wouldn't cry Mama Mama.” Erika recalled.
Steve noticed Blaise was delayed in speech and was missing developmental milestones. He noticed a few more things which he shared saying, “Some of the behaviors, he would get fixated on say ipad or you know one particular thing and then he would stay on it. He also made these peculiar noises like all day long.”
After searching on google, Steven thought that Blaise had some of the same signs and symptoms of someone who has Autism.
Getting an ASD diagnosis
Most doctors will not give an autism diagnosis at 18 months. Erika and Steven were able to get connected with a company that helped Blaise get early intervention services as well as getting into a developmental preschool.
After Blaise attended the preschool for a little bit, Erika and Steven worked with another company to get a formal diagnosis when Blaise was 2.5 years old.
Being labeled as ASD was the fear
Erika shared an interesting perspective about receiving her son's diagnosis. By the time he was formally diagnosed she shared that her and Steven had already accepted the fact Blaise was different and had autism. Erika was afraid of what a formal diagnosis would mean for the care Blaise would receive.
She shared, “My biggest fear, I didn't want to get a diagnosis, even though we believed he had autism because in my mind I didn't want them to stick him in a box.”
She continued, “Once he was labeled then that's all the care he's going to get. He was only going to get autism care and an autism teacher…and it's a bigger world than that and I wanted him to have all the exposure that he could have.”
To help ensure Blaise wasn’t put in a box, Erika started working at the school Blaise was enrolled in. She gave a great example of how she has helped keep Blaise progressing. She shared, “Because he has autism and because he has sensory issues..they put headphones on him, because that's what he needs. When we have assemblies, I go in the assemblies and I take the headphones off…let's see if he can push through it. Don’t just give it to him because he has autism.”
Steve shared that he feels like when some parents have a diagnosis, they automatically put up a glass ceiling of what their child is capable of. Not even trying things because of the child’s label. “We wanted to treat him as regular as possible, give him the same experiences as regular children.”
Loving your child for who they are
Regardless of his disability, Steve said that he and Erika have loved, supported, and accepted Blaise for who he is. He said, “Don't give up, once you get that diagnosis, it's not a death sentence. Just focus on the early intervention, focus on the things that you can control and then eventually things turn out ok.”
Erika and Steve both shared their joys of having Blaise as a son, Erika shared, “Just when he meets those little milestones…he had to work four times harder to do something that comes naturally to someone else.”
Steve shared his joy saying, “I remember the first time he walked up to me with no prompts or anything and said, “Daddy I love you.” He looked me dead in the eye, and I was like “wow”.” Being able to see Blaise work towards a goal and accomplish it has been very rewarding for both Erika and Steve.
utero something was wrong and were candid about their worries and stress. When Hadley was born all of that changed.
for good. She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.
Matthew has three very rare abnormalities. He has been diagnosed with Goldenhar syndrome, agenesis of the corpus callosum, and an extra copy of his 78N22 chromosome. Now at 12 years old, Regan, Matthew's mom, shares her experience with Matthew so far.
Dani and her family fought hard to receive an official diagnosis for her daughter Hayden. After many specialists they finally received a diagnosis of DDX3X. So rare that there that at that time there were less than 500 people that have ever been diagnosed with this genetic deletion.
Carrie was only 22 years old when she received the unexpected news that her son, Luke, was born with several disabilities. She lived far away from family, and single was single.
Wrayanne was a first time mom when she learned her daughter, Morgan, was born with a rare severe epileptic seizure disorder. Wrayanne was candid about her struggles and her hopes for Morgan’s future.
Lily was born at 24 weeks gestation weighing only one pound. Lily is a twin and unfortunately, her sister was stillborn. Lily has Bronchopulmonary Dysplasia. Her mom, Jess talks about the grief of losing a child while dealing with the news her daughter had a disability.
In this episode, we dive into the history surrounding the formation of the Special Olympics. We interview Rebecca Ralston, who is the director of the Young Athletes Program of The International Special Olympics.
Amy Jandrisevits created A Doll Like Me, so kids with physical differences could love and cherish their very own doll that looked exactly like them. She personally makes each doll by hand, and to date she has raised more than $225,000 to help off set the financial burden for those who could not otherwise afford a doll.
Candace comes from a big family; 11 children to be exact. The youngest child was born with Down syndrome. Candace shares her special relationship with Angelita and how she has impacted her family and life for good.
In this episode, Gerald talks with Josh Veach, the co-director for Go Shout Love. A cause-driven for-profit business that raises funds and awareness for families on unique medical journeys.
Go Shout Love
The Formation of Go Shout Love
Go Should Love was first created by Kristen Estock in 2014. She used her blog as a platform to tell a family’s story about their child who had spinal muscular atrophy or SMA. Now Go Shout Love is a cause-driven for-profit business that raises awareness and funds for families with rare medical needs.
As a for-profit company, Go Shout Love has an online store that shares 50% of the proceeds to directly help families. Josh Veach, the co-director of Go Shout Love shared a few examples of the type of care Go Shout Love provides. He said, “For some families that might look like helping contribute to the cost of repairing or getting a new handicapped accessible van or making their home more handicapped accessible.”
Josh also explained how each month, Go Shout Love has new t-shirts in their online store that are inspired by the child they are featuring for the month.
Go Shout Love’s Mission
Later Josh shared what his team of seven dedicated members hope to accomplish with Go Shout Love. He said there are two main things they are trying to achieve through their platform of Go Shout Love. The first is the tangible gift of money, the second is the connection of story and love with others.
Josh described the second goal of Goal Shout Love as the real sense of accomplishment his team and he feels. “We want these families to have a place where they’re heard and loved and supported.”
The Process of Being Sponsored on Go Shout Love
There are two main ways that someone can be sponsored through Go Shout Love. Josh described the process as, “Kind of how the process works is they get nominated through our website. Families nominate themselves or maybe a friend or family member nominates them.”
After they receive a nomination they look to see if the family would be a good fit based on certain criteria. The families are then able to share their story through video. For one month the family is featured on their website and their story is shared. Throughout the month, all of the items on their website sold, 50% of the proceeds will go directly to the family.
Challenges and Joys Working for Go Shout Love
“The joys are getting to meet the families and the kids..to know that, that check we are getting ready to send is going to tangibly make a difference in their everyday life is incredibly rewarding for me.” Josh said.
Being a business is what Josh described as being challenging. He shared, “We have to navigate tough times or low months or even in the midst of this season where the economy is in a really difficult position. Our ability to provide not only for our families but also continue to pay our team members in a fair wage..I think the biggest challenge in the big picture is that we are limited in how many families we can help.”
The Impact this Line of Work Has on Someone
Josh shared how this journey has impacted his life. He said, “When you meet people who have navigated and are navigating extremely difficult situations with grace, with strength, with courage, it is impossible to not be impacted by their stories.”
He continued by saying, “It has given me an overwhelming realignment in my perspective in my lens in how I view the world, how I view other people. Especially people that look and act in every way possible different than me.”
How to Get Involved
Go Shout Love has several different avenues that people can get involved in. They are on Instagram, Facebook, and Twitter. You can find their website at https://goshout.love/. There you can find additional ways to get involved and find their store, podcasts, and their family stories.
“Look for the opportunity to be the good.” These were Josh’s last words.
Denise shares how her son, Matt, who is on the autism spectrum inspired her to create two amazing companies that strive to better the lives of people with disabilities.
Katherine has a sister she never knew existed until she was 12 years old. A sister, who is profoundly disabled was placed in an institution as a young child. Katherine reconnected with her and has become her guardian.
Dr. Gerald Nebeker talks about a few adoption agencies that help facilitate international adoptions for children with disabilities. In this podcast you will also hear from Michelle, the CEO of Reece’s Rainbow as well as Kecia and Chris who have adopted two children with Down syndrome from the Ukraine.
Dr. Gerald Nebeker talks about early intervention services that are available to children with developmental delays and disabilities. Gerald speaks with Kristin who is the director of the Early Intervention program at RISE. She explains who is eligible and the purpose behind early intervention.
Early Intervention
According to the CDC, early intervention is a term used to describe services offered to children ages birth to three with developmental disabilities and or developmental delays and their families.
There are several different types of services offered through early intervention. Depending on what the child needs, they can receive the following services: speech therapy, physical therapy, or occupational therapy. Each state has their own early intervention program. These programs are publicly funded and provide services at a reduced cost or for free for any child who is eligible.
Early intervention is focused on ages birth to three. This is a critical learning point in a child’s life. The main goal of early intervention is to help with delays as soon as they become an issue; rather than waiting until later.
Is My Child Eligible for Early Intervention?
Kristin, who is the director of the Early Intervention program at RISE, helped explain who qualifies for services. She said, “..we’re looking at children that are birth to three that are demonstrating a developmental delay, whether it’s a mild to a significant developmental delay those are the children that would be eligible for the program.”
Kristin then gave a great example of a developmental delay. She said, “..for example when a child is walking. We would expect a child to be walking between the ages of 12-15 months, and so if you have an 18-month-old child that hasn’t started walking yet, we would consider that a developmental delay.”
Determining if a Child is Eligible for Services
At the pediatrician, parents or caregivers are asked developmental questions about their child. Pediatricians use these to help find children who may need additional support. The pediatrician will refer that child for services. Depending on where you live, the eligibility criteria process and criteria can vary.
Kristin is in the state of Arizona. After they receive a referral for services, a member of their team will assess the child in five different categories to determine if they qualify for services. Those categories are: cognition, language, motor skills, social emotional skills, and their adaptive or self-help skills.
Members of the early intervention team use a standardized assessment to assess where the child is at for each of the five areas.
Who Pays for Early Intervention?
Depending on which state you live in, depends on which department is paying for the early intervention services. Kristin said, “The services are provided by contractors within the state. Every state is different, some are through the Department of Education, some of it’s through the Department of Health and there is federal funding that supports early intervention as well, and that's the IDEA Part-C.”
What Happens After Age Three?
Early intervention is only ages birth to three, what about the children who require additional supports after they turn three? Kristin explained that part of the early intervention is helping with the transition to other services.
Some children go to a special education preschool, some children can qualify for a Medicaid program through their state, and others, if they choose, can use their private insurance to pay for additional services the child might need.
Family is Critical for Success in Early Intervention
Part of early intervention is helping support the parents in their home with their child. Kristin said, “Practice makes perfect.”. In the case of early intervention nothing could be more true. Our brains require repetition to learn something new.
As soon as the neurologist saw Elie, he knew she had a serious condition and soon after diagnosed Elie with infantile spasms, which is considered a medically catastrophic seizure disorder. "It was heartbreaking," Eric said. "I remember thinking that I didn't know what to think. I didn't know what to expect. It was a whole road that we couldn't see in front of us."
Even though the country has a record low employment rate of 2-3 percent, people with disabilities have an unemployment rate of 65 percent. Why is this? In this Podcast Gerald talks about with proper training, coaching, and job matching, people with disabilities are able to become dedicated employees. Employment Opportunities for People with Disabilities Unemployment Rates There are 48.9 million people in the US with at least one form of a disability. 65 percent of those are unemployed. With the national unemployment average at 2-3 percent, it’s shocking that people with disabilities have an unemployment rate so high.
There are several reasons someone with a disability could be unemployed. Some perhaps don’t want to work, for some it’s an accessibility issue, and for others it could be an issue of training. Why Not Hire Someone with a Disability? There are several jobs out there that someone with a disability could do if given the proper training. For instance, sorting hangers at a clothing store, janitorial work, cleaners, or stock clerks.
None of these jobs are made up, they require somebody to do them. Given the right training and matching of skills, somebody with a disability could fill those needs. Using Their Strengths to Help People with Disabilities Find Employment Gerald shared a wonderful example of employing someone with a disability. Bob is on the autism spectrum and loves to sort things. Bob rarely speaks and has episodes of self-injurious behaviors or aggressive behaviors towards others.
At first you might think Bob is unemployable. However, with some creativity and using what skills Bob has, he found the perfect job. Bob sorts maps for the Forest Service. He is great at it, it doesn’t require communication with others while sorting, and his aggressive behaviors are non-existent while he is sorting. How do People with Disabilities Find Employment? There are organizations like RISE, Orange Socks’ parent company, that have contracted with the state to supply supported employment. RISE has staff who contact businesses and explore their needs and how someone with a disability could fulfill those needs.
When the person is placed in the job, they get a job coach who shadows the client making sure they perform the required task. At first that shadowing could be full-time, but then it’s gradually faded to a point where they no longer need a job coach.
Jessica and Johnathan were shocked and relieved to receive a diagnosis for their son Trenton. Jessica struggled for years to find a doctor who would help her. Her journey in advocacy led her to start a nonprofit organization called Collaborative Corner for Exceptional Children. A company dedicated to helping parents find resources and become advocates for their children with disabilities.
All Maria wanted was to be able to get the chance to tell Serenity how much she was loved. She said, “I just prayed and I asked God if he could just give me fifteen minutes to love her. To tell her how much I loved her.
In this episode Dr. Gerald Nebeker talks about NIPT prenatal testing and how the results are often misinterpreted. NIPT Testing What is NIPT? NIPT stands for noninvasive prenatal testing. Doctors often use NIPT to screen for genetic abnormalities. It is considered non-invasive because the test requires blood from the mother. They are then able to differentiate between the fetus’ DNA and the mother’s. While this test is considered to be very accurate, Gerald points out some cautions.
“It’s important to know that it's a screening test only. A positive result doesn’t necessarily mean the baby has a condition. The test results show that the baby has an increased risk but it cannot diagnose a disorder” Beware of How Statistics are Represented The NIPT test boasts a 99% accuracy or 99% sensitivity. However, if you receive a positive result, this does not mean that your child has a 99% chance of having that condition.
When quoting Bloom Life Gerald stated, “NIPT can detect over 99% of fetuses with Down syndrome but a positive result on a NIPT does not mean that you have a 99% chance of having a baby with Down syndrome.” Chance Result Sometimes NIPT gives a chance result when the baby does not actually have the condition. For instance if you are given a high chance result for Down syndrome there is 20% chance the baby does not have Down syndrome, for Patil syndrome there is a 50 chance the test is wrong and for Edwards syndrome there is a 60% chance the test is wrong.
You will still need to get further testing such as an amniocentesis to confirm a diagnosis. Why Get NIPT? Even though NIPT there can result in a false positive or negative result, when used as a screening tool, it can be effective in helping to determine if further testing is required. Some women have mentioned that because nothing is guaranteed they wouldn't want to have a NIPT done. Others have stated that they want to be prepared for the possibility of having a child with a condition the test screens for.
Gerald said, “I’ve done a number of Orange Socks interviews where a screening test indicated something wrong with the baby and the parents were strongly encouraged to terminate the pregnancy. Only to find when the baby was born that he or she didn't have that condition.” Tamara and Matthew's Experience with NIPT While Tamara was pregnant with their son Grayson, they had a NIPT done to determine the gender of their baby. They received the unexpected news that their child was at high risk for Down syndrome.
During their follow up interview, after Grayson was born, Tamara and Matthew shared their experience. Even knowing their screening results, they grieved the fact that Grayson did in fact have Down syndrome. However, they have come to realize they had nothing really to worry about.
See Tamara and Matthew's interview here
Rocky admits that at first he had worries and concerns about raising a child with special needs, but these concerns quickly dissolved. He tells us "The joy that comes when you sacrifice for other people and other things...It helps you to focus on the things that really matter in this life and to take joy in the simple things that we often take for granted."
Stacy said that her daughters have been a blessing from the beginning but that she had to adjust her thinking to a different path than what she had expected. Now they are just "Sydney and Logan. Stacy tells us, "They are actually easier to raise than my other two daughters who are non-delayed." Despite the challenges they know it is worth it. "Everyone has problems, you just have to adjust...They are worth it. I wouldn't give up anything. I love coming home...," said Terry. He loves that his twin daughters still live at home and he gets about 20 hugs a day from them.
Cathy McMorris Rodgers and her husband Brian Rodgers found out their son Cole had Down syndrome at his birth. "It was tough. The doctors laid out a lot of things and it was very difficult. The fear of the unknown is what is overwhelming in that moment. Go talk to other people, don't make an isolated decision. Educate yourself, I remember when we go the news about Cole, that so much of it was focused on the negative. It was focused on what health issues he may have or other challenges. Rather than really being told what the potential was."
Jessica is a single mom and the parent of two boys, Britton and Chewy. Britton was born at 28 weeks gestation weighing only two pounds and 14 ounces. He is 13 years old now and has had many health challenges, including a stroke and brain bleed which has resulted in Traumatic Brain Injury (TBI).
For this Good In Our Community feature, we're featuring Betrayal Trauma Recovery. This is a great resource for anyone that is parenting a child with disabilities and has a parter who is abusive.
Here is a blog written by their founder, Anne Blythe:
We all know women raising children with special needs. But in some situations, these women are also dealing with abuse in their relationships privately. Anne, founder of Betrayal Trauma Recovery, states, “A lot of people see the disability from the outside, but they don’t see anything that is going on in the inside, like what types of things are going on with their spouse. Women may be free and open to talk about their children’s needs and the disabilities, but they are quiet about the private suffering due to abuse in their home.” Parenting Children With Special Needs Is Difficult In An Abusive Situation June, a single mom of four children, all of whom have special needs of varying degrees, was in this situation. She suffered private abuse by her husband, while trying to fulfill the many needs her children required. On the outside, things may have looked well-managed, but the abuse was not seen or recognized because the disabilities were more visible and that is what most people paid attention to. She explains, “All of my children have been affected by trauma from seeing abuse in the home, in regards to how I was treated by my husband in front of them. He was extremely verbally and emotionally abusive and eventually physically abusive to me in front of them. Regardless of whether or not a child has special needs, the treatment for children who have been impacted by trauma and children that have special needs overlaps greatly.” June adds how she found great value and connection in local and online communities that offered support for parents of children with special needs. For any parent of a child with a disability, finding a community is something that is essential. Orange Socks, is one such organization, that aims to help families find a new normal as they navigate through the grief that comes when they’re told that their little one will be different. For victims of betrayal trauma, the importance of finding a community is just as important and essential. Children With Special Needs Are Profoundly Impacted By Witnessing Abuse In The Home The difficulty of being in an abusive relationship while at the same time trying to parent and raise children with special needs is undeniable. The challenges involved in this situation can be unimaginable. June describes how this situation impacted her as a mother, “I tried very hard to save my marriage. I delved into learning all I could about porn use, unhealthy relationships, overcoming affairs and infidelity, and abuse. It became clear to me that the situation I was in was taking away from my ability to be the best parent I could for my children. So much of the time, I was in trauma repeatedly from daily verbal abuse, emotional manipulation, sexual coercion, and spiritual abuse and it impacted by ability to really be present for my children and advocate for them.” Abuse Must Not Be Normalized Or Modeled For Children With Special Needs Being in an abusive relationship can hinder a woman’s ability to be the best parent she can be because she is in a constant state of trauma. Implementing boundaries and learning about abuse and toxic relationships can help empower women in these difficult situations. June shares the point of intersection that became undeniable for her to realize her situation was not sustainable, “My son did not speak until he was age 5. The turning point for me was when he started talking, I realized he could start mimicking the verbal abuse he was hearing in the home and repeating the horrific words I was being called by my husband. I knew it was a impacting my children and would continue to impact them. I did not want this abuse to be normalized for my children any longer.”
They told us they thought he had a form of dwarfism based on his femur length. His femurs are shortened and curved, which is a marker for other conditions. At 32 weeks we got the results back that it was Osteogenesis Imperfecta- also known as brittle bones.
"I held her and I cried and the nurse held me and from that moment on I said “I don’t care about anything else other than protecting her and doing whatever it takes to keep her happy and safe and loved.”
Adrianne and Jason had two biological daughters and an adopted son when they adopted and their daughter Maria from the Philippines. Maria was born missing all 4 limbs, a condition known as Tetra Amelia syndrome. Tetra Amelia syndrome: Exceeding Expectations Adoption After a rough second pregnancy Adrianne and Jason decided they wanted to adopt to complete their family. They have adopted two children from the Philippines. Their daughter, Maria was born missing all four of her limbs.
Upon first seeing Maria’s picture Adrianne questioned “Well what do you think?” Jason replied “I don’t know, why don’t we?” Preparing for Maria They had no experience with someone with disabilities, so they had to search and find resources, ask questions, and prepare to adopt Maria. They found several individuals with the same condition as Maria.
“..it seemed like almost every person we could find who had this Tetra Amelia was for the most part a very productive member of society, living a very good life. That really brought us a lot of comfort as to what kind of life our daughter could have.” Finding Resources Adrianne recalls “we were able to go online and find other families with kids with similar conditions and ask them questions, and find resources in our area. I guess for us that was the hardest part, just finding all our resources.”
“This was our first child with special needs, and we didn’t really know how that all worked and what resources were out there, so it took a little bit of research on our part." The Cost of Adoption For Jason, his concerns were different, “How am I going to pay for everything? Adoption in itself is expensive, and then to adopt a child with special needs started my gears turning about what this is going to cost us. I had some reservations about that, but I think there are great resources out there." "We Got to Watch her Grow Up" “When we first brought her home, she was just over two years old.... She didn’t know how to play or interact, so we’ve watched her grow and find ways to interact with us.” Jason continued “We found out what she enjoys; she likes being in swings, and she likes movement.”
Adrianne has found great joy in watching Maria overcome things. “We put limits on her abilities, and she just turns around and does things we don’t think that she is capable of doing. She surprises us every day with things that she learns how to do. She is just so smart, and she is so willing to try everything.” “It’s Going to be Okay” In her advice to other parents Adrianne says, “There are so many resources and different groups. Through social media, there are all sorts of different limb deficiencies or different conditions, and you just take it one step at a time, because they are going to start as a baby, doing the same things that all babies do. Then as they grow, you kind of grow with them, and you know learn how to do different things in a different way”
‘For the most part, they are really smart kids, and they figure out how to do things on their own. I’ll try to show Maria how to do something, and she kind of shakes her head like she doesn’t want to do it that way and she’ll find her own way to do it.’ Kids Just Want to be Loved Jason added, “...like any other kids, these kids just want to be loved. All kids need a family. They want to be loved, and if you love them, they are going to love you back.”
“They really don’t know any different when they are born that way; we look at it as a deficiency because we were born and raised with arms and legs, and we learned how to everything just like every other kid, but they are born that way and don’t know any different, so they grow up that way and learn how to adapt.”
Jori and Dan have a very unique son named Luxton. He is one of three cases in the world that has autosomal recessive centronuclear myopathy type 5. Luxton however is the only one in the world that has two mutated genes. Autosomal Recessive Centronuclear Myopathy Type 5: The Only One Something Was Wrong Luxton’s doctors knew there was something wrong right off the bat. However, no one really knew what it was. “He couldn’t breathe on his own, they called a code blue.” Jori recalls. She continues by saying, “ They had a laundry list of things they thought it could be. His MRI showed some brain bleeds. They thought he had Gyneschemic brain injuries because he did have a rough delivery so he was restricted in utero.” “It’s Terminal, Whatever he Has” At three weeks old his oxygen dropped to the 20’s and Jori and Dan were unable to find a pulse. They were admitted for three months on and off and the doctors were still not able to find out what was wrong. “It’s terminal whatever he has. So don’t expect him to look at you, don’t expect him to laugh. He’s never going to play with toys. He’s never going to walk, he;s never going to crawl, he’s never going to sit up, he’s going to be a vegetable.” Official Diagnosis at 16 Months After 16 long months, they received a test called a microarray. The test showed small deletion on chromosome two. “Well we got the diagnosis and I remember the lady walking in the room. She was like “so we found something this is a gene it affects but we have no other records of this being found” “The other two records that are very similar is both kids are trach vented and doctors said that they don’t have a very good prognosis” I was devastated” Jori mentioned. “Just be his Mom” In the first couple months of Luxton’s life Jori was struggling, she was feeling sad, guilty, jealous and like she couldn’t do it. Dan put things in perspective for her by saying “Jori stop listening to the doctors, stop looking at everything they are telling you is wrong and just be his mom.” “I stopped looking at what he’s never going to do and what everyone's labeling my child as and once I stopped doing that, was able to pay attention to what he can do… and then I started getting joy out of that.” He’s Proving Doctors Wrong “He does things they told us he would never even do..he rolls and now he is lifting his head up off the ground...he does things that other moms don’t get to experience, we just have a very special bond.” said Jori. Dan loves Luxton's happy personality, he said, “I love coming home and seeing him dance around me and get excited. It’s really wonderful having him be part of our family. He just seems to have this determination to never really give up.”
Laurel and Jaron didn't receive a diagnosis for their son, Shane, until he was 4 years old. Shane is diagnosed with 18 P Deletion. 18p Deletion He Started Missing Milestones “We assumed he was like any other kid until he started missing some mile markers. We started seeking early intervention, we would ask questions at the doctor and say “so do we need to have him tested for anything?” it was always “no, at this point he’s still doing very well he’s just behind and he is receiving all of the services he’d have otherwise.”
“It wasn’t until this past year that we pursued it a little bit further. We spoke to the pediatrician who said “I think the best person to have you see is Dr. Kurr she’s a neurologist and a genetic specialist.” Laurel recalls. “Shane Doesn’t Look Anything like You Guys” That’s what the doctor said when she first walked into the room. Laurel said, “All it took was a simple blood test, a microarray, that took all of 30 seconds to draw his blood. A week later we knew that the reason for some of his funny quirks, his little characteristics that we just thought were compilation of things that make up Shane. They are also things that come as symptoms of his deletion.”
Jaron said, "I was balling and I didn’t even know why, because I already knew he had something. It was just good to finally have an answer. I didn’t think differently of Shane. We waited four years and all of a sudden we have this diagnosis. We thought “what do we have to do, what does this mean with his life going forward?” Symptoms of 18p Having a diagnosis means that they now know what to watch for. Shane will visit a variety of specialists annually to track his progress. Jaron provided a list of symptoms Shane has related to 18p deletion.
He said “He has strabismus, which is a lazy eye, we got that corrected when he was 2. So far that surgery has held, so he doesn’t have that anymore. He has mental delays so even though he’s five, he has a cognitive of a two year old. He has a little high blood pressure in his lungs but nothing too much to worry about. Other things that are related to this disorder can be heart problems. Do they Wish they had Known Earlier? Laurel tell us, "I feel lucky that we didn’t know, which seems kind of strange. I think with a lot of things it would be important to know right from the get go so that you can prepare for those medical health issues that could come. But in our case, Shane’s just a healthy kid. We got to know him and love him. The only difference is we found out what it was that was helping him to be the person that he is."
For Laurel and Jaron the most challenging part of Shane’s disability is his difficulty communicating. The Joy they Have Received Jaron says, “He’s just a happy kid, he just loves everybody. He’s always hugging everybody, he’ll hug strangers that he doesn't even know. You’ll just be walking in the store and he’ll just walk up and hug somebody and you’re like “he’s a hugger you know, sorry.” He brings a different kind of need to our family, it’s good for Savannah, our oldest daughter, because she’s the best big sister. She knows you got to take care of him” Sibling Dynamic They have two other children, Dallin, who is one, and Savannah, who is seven. They've found that there’s a been a big enough age difference between Savannah and Shane that Savannah has picked up pretty quickly that although he is five, he’s not like other five-year-olds and you can’t treat him the same way. But you always say “don’t treat him any different, but also do treat him different because they are different.” He does have special needs, they have different needs than other kids, I mean everyone has special needs. It’s really cute to see Savannah as just this prime example of a big sister.” Advice for Someone who Receives the Same Diagnosis Laurel tells us, "A cute mom on our tiny little Facebook group for families of children with 18 P deletion, she came new to the group and said,
Both of their daughters were diagnosed in utero with a fatal form of Dwarfism. They chose to continue with the pregnancy, and doctors couldn't give them statistics, because everyone else they knew that received the same diagnosis chose to abort.
While looking through adoption files from an orphanage in Yerevan Armenia, Sarah saw a picture of Maria, who has Down syndrome. Sarah told us, " I saw Maria’s face, and I had seen many other faces over the years, and they are always just so cute and you want to adopt them all, but something was very different when I saw Maria’s face. It's like God told me, "that’s your daughter, go get her!"
There's only a handful of kids who have been diagnosed with NONO gene deletion. Doctors can't tell you what your life will be like, Morgan and Rikki can.
There were suspicions in utero that their baby would have Down syndrome, but they didn’t know for sure until he was point. After a lot of study and then ultimately meeting their son with Down syndrome, they have decided Grayson is perfect the way he was born.
Jennifer and James have a very unique family, they have 10 children! 6 of them have been adopted and 4 or those adopted have disabilities. They each have brought love and joy into their family. Internationally Adopted Children with Disabilities The Unexpected Jennifer and James went to Kazakhstan to adopt their daughter. They were unaware at the time that she has autism and other medical issues as a result of living in an orphanage. Jennifer recalled “She ended up with Reye syndrome and came home with severe liver problems and cognitive disabilities..they did some testing and told me that she had severe autism”
Both Jennifer and James were crushed by the diagnosis. However, she has exceeded expectations and is on the honor roll as a freshman in high school. “As soon as I think we’re going to hit a ceiling, she breaks through it.” Jennifer added. Adding More After struggling with miscarriages for a few years Jennifer knew it was time to adopt and add another to their family. Some countries have restrictions on allowing typically developing children to be adopted if there are other children in the home. This led Jennifer and James to start adopting more children with disabilities.
The moment Jennifer saw Jacob, she knew he was supposed to be in their family. “I recognized him, I knew it was him and he had Trisomy 21, Down syndrome.” Jennifer said. Children with Disabilities have Special Abilities to Love James says children with disabilities have a unique gift to love. The amount of happiness felt not only by his wife and him, but also their other kids, has dramatically increased since they’ve adopted children with disabilities.
“The light and joy that they bring us is immense,” James said, “and this is true with each one of our children. They have their own unique traits and their own unique abilities. But with those things that the world would call special needs, they come as a total package, and with those special needs have come special abilities, and that’s not just lip service. Truly special abilities that have blessed our lives more than I can begin to say.”
Jennifer said, these children with disabilities know what’s most important in life and really understand happiness. They naturally have many talents and capabilities that do not come so easily to others.
This family knows to truly love, care for, and raise children with disabilities means to be blessed to be in the presence of angels. The Impact of Having Children with Special Needs Jennifer and James both agree that their children who have disabilities have had a profound impact their immediate family as well as their extended family. Jennifer said “they all have a very special connection with all of our children, but particularly the ones with Down syndrome..my brother was the one who said to me..‘I think that their chromosome (the extra one) is the love chromosome.’
“It’s been fun to see that they’ve not only impacted up in our immediate family but in our extended family and our community.” added Jennifer Questions when Adopting Children with Special Needs Parents who want to adopt but aren’t sure, James encourages them to look deeper. Of course the cost of adoption is high—especially from a foreign country—is expensive, but adopting a child is infinitely more valuable than any material possession anyone would spend the same amount of money on. Jennifer says she knows every child has a forever family whether it’s their own or an adoptive family.
Rebekah and Chris have Achondroplasia, a form of Dwarfism. They have 2 children, one that has Dwarfism, and one that does not. Rebekah and Chris open up about what it's like living as a little person, and how they feel now that they have a daughter with the same condition. Rebekah is a great resource to parents who receive a Dwarfism diagnosis for their child.
Having a child with Pfeiffer syndrome comes with it's challenges. You will discover, however, these kids are just like any other, they just look different.
Typical of that time era, David and his wife were encouraged to place their daughter, Sharmi, who had Down syndrome in a state institution. They chose to keep Sharmi at home. A decision David is grateful for. Sharmi’s sister, Valerie, eventually became her guardian. Valerie recalled what a joy it was to have Sharmi in her life. Choosing to Keep Her Home Doctors paint a grim prognosis When David and his wife found out that their daughter had Down syndrome, they were told, “She’s not going to be able to walk, and she’s not going to be able to feed herself.” While giving them a grim prognosis, they encouraged them to place Sharmi in a state institution.
Sharmi’s mom replied, “No, she’s my daughter; I want to take care of her.” That is just what they did. They helped Sharmi learn basic life skills, and helped her accomplish things the doctors said she never would. Siblings help raise sister with Down syndrome Valerie is one of Sharmi’s siblings. She loved participating in helping take care of Sharmi. She said, “She was our baby sister, and what little girl doesn’t want to help with a baby in the family?..We all helped take care of her, and we spent a lot of our playtime, especially when we were younger, playing with Sharmi.”
It was through all of this playtime that Sharmi learned how to walk. David talks about how his children would lay on the floor and take Sharmi’s feet and walk her around the house. Creature of habit Both David and Valerie lovingly recalled how Sharmi was very particular with the way things were done. Valerie shared, “We would have popcorn on a Sunday night and watch ‘The Wonderful World of Disney’. If Dad hadn’t got the popcorn popper out by then to start popping popcorn, she would get the popcorn popper out; she knew the routine.”
David explained that he would purposely not put the popcorn popper out. He said, “She’d go get it out of the drawer, set it on the counter with the popcorn and stand back. She wouldn’t speak; she’d just look at you like, ‘Come on, let’s get going.’” Moving to a group home When all of Sharmi’s siblings moved out, Sharmi became lonely. It was at this point that they decided to place her in a group home where she could interact with other women who had developmental disabilities.
Valerie was able to visit Sharmi often and would take her home with her on the weekends. “I was married, and my children were very accepting of Sharmi.” Valerie said. Admiration for sibling with Down syndrome Valerie recalls all the time she was able to spend with Sharmi. She was able to learn many qualities that Valerie admires. She shared, “They are completely without guile. They love everyone and they’re continually positive.”
She continued saying, “They overlook all of your flaws, and it’s like a spirit surrounds them. We always felt like she had an extremely positive impact on our family. I realized what a wonderful person she was and for the opportunity to have this wonderful person in your life, and to share her with your friends.” Alzheimer's and people with Down syndrome When Sharmi was 40 years old, she started showing signs that she had Alzheimer's. Valerie said, “It was slow and progressive..I started visiting her more at the home rather than bringing her home. She still knew who I was; she still responded when I would come.”
Sharmi started having seizures. She also had poor circulation on her feet, this caused blisters to form. The last five years of her life, she was in a wheelchair. The side effects of her seizure medication and the brain dysfunction from Alzheimer's made it so Sharmi couldn’t interact and respond like she used to.
Valerie shared her experience when Sharmi passed away. She said, “You didn’t want her to go, but at the same time you did, because you knew that she was suffering and could no longer participate in the world..she passed away very quietly and peacefully, which is what we wanted for her. I don’t think you could ever go wrong when you s...
Gwen is the mother of Claire and Lola, teenagers with asparagine synthetase deficiency or ASNS. Both Claire and Lola have microcephaly as a result of ASNS. Despite this, they have filled their family and community with love. Finding Happiness and Joy The Unexpected For Gwen and her husband, there was no cause for concern while starting their family. They had one boy, born typically. Gwen’s tests and scans all came back normal during her second pregnancy as well. However, when Claire was born, it was apparent something was wrong.
Gwen recalls, “There was no reason to believe anything was going to happen. I had a pretty uneventful labor, and she was born, and instantly everyone freaked out...they were pretty concerned and called in all the specialists to give her a thorough exam.” “It Happened Again” Doctors were unable to find the cause of Claire’s microcephaly and assured Gwen and her husband that there was a 25% chance of it happening again. Confident it wouldn’t happen again, they got pregnant.
At first all of the scans came back normal. It wasn’t until she was 22 weeks pregnant there started being concerns. When Gwen was 26 weeks along, they confirmed microcephaly for Lola, her unborn child. Claire had this to say about it, “I don’t know if I’ve cried as much in my whole life as I did those 24 hours after Lola was diagnosed. It just felt so unfair to have to go through it again..we really, truly thought we had a 75% chance or greater that everything would be fine.” Choosing Life Even though her obstetrician didn’t push for termination of her pregnancy, he encouraged Gwen to look at all her options. Gwen recalled what happened, “I just remember going back to my OB who said, ‘you guys have been through an awful lot. Look Gwen, you have options, and I’m not going to judge you guys whichever option you take, but I would encourage you to check out every option.’...and I did exactly what he said.”
Gwen did her research. She talked with people who had been through similar situations, visited websites, and read testimonials. She said the following, “Who am I to play God? I was given this child for a reason; why am I to change this path?”
She chose life! A decision to this day she would choose over and over again. Finding the Reason It had taken years to find the reason behind Claire and Lola’s microcephaly. After sending blood into different research hospitals, they finally had a definitive answer. Her daughters have Asparagine Synthetase Deficiency or ASNS.
Since getting a diagnosis, Gwen has created a Facebook page. This page has helped other parents connect and find support in each other. Gwen had this to say, “It has been really neat to connect with these other families and see the similarities..How nice is it to know another family who understands what we are going through.” Sleep is Hard When asked what some of the challenges for Claire and Lola are Gwen mentioned a few things. The first being the ability to control the girls’ seizures and the other is sleep. “I can’t say that nighttime is normal because they don’t sleep steadily.” Gwen said. Lola requires constant supervision while sleeping. Usually there is a nurse who stays with her to help monitor her sleep and seizure activity. “Typically Atypical” Life with Medically Complex Children “There is nothing typical about any of my days, nor are any two days the same..the tricky part is we have PT, OT, speak technology and we have a vision therapist who comes and two teachers who come, so that’s like seven people who are trying to come Monday-Friday every single day.”
“We try to squeeze stuff in for our son. A lot of times in the evenings he’ll have basketball games or practices, or we go with him to the gym..we try to have as much normalcy for him as we can. We’ve always tried to do that. We are a pretty close knit family; we just like spending time together.” Gwen said. “Life is Special and Perfect and Wonderful Exactly the Way it Is”
Kenai is truly one of a kind. With only a handful of people in the world diagnosed with 7Q deletion, he is paving the way and proving doctors wrong. His parents, Kassy and Darren, share what a joy he’s been to their family and how they are helping him grow and learn. Differently-Abled Uncertainty Even though Kenai was born five weeks early and weighed only three pounds, his parents had no reason to believe he would be anything but typical. However, when he was less than 24 hours old, a nurse told his mom Kassy that there was something wrong with her baby.
Kassy said “..by day five of life they told us it was a deletion on the seventh chromosome, there are about 34 reported cases that are similar but not exact to his.” Having a diagnosis so rare meant doctors had to guess what would happen next with Kenai. Google Isn’t Your Friend “They didn’t really know what he would do; if he’d smile or anything..he was so tiny when we got his diagnosis. I googled it and all of the results were bad. All of the cases were bad and scary and it took me a while to just breathe and not try to search who he would be, and just watch him develop. That was kind of a hard hump to get over.” Diagnosis Brings Mixed Reactions from Family When Kassy and Darren told their families about Kenai’s diagnosis they received a variety of reactions. Darren said, “My family is kind of dramatic. When we first brought the news to them a lot of them were really taken back and automatically sent things into worse case scenarios...maybe they were scared for us but we never felt that way.”
“Their initial reactions would be ‘I’m so sorry’ and I just had to say ‘Don’t say sorry, we’re still excited and we still just had a baby and we still love him so much.’” recalled Kassy. Words of Advice: Don’t Use Google “Do not Google anything ever. Don’t take your doctor's word for it because they don’t know everything, they can predict all they want but no one’s going to tell you what your baby is going to do until your baby tell you what they are capable of. You just need to wait, it’s hard to accept but you need to trust the process and trust your journey.” This is what Kassy had to say when asked to share some advice for parents.
Darren added, “Positivity is a big deal for us. You really attract what you think about, that’s why I’ve commented so much about him being this positive entity in our home. There’s a lot of positive stuff that can come from this, I would just say concentrate and focus 100% on all of the positive things and build off that.”
Piper is a vivacious little girl with spina bifida. She surpassed the doctors’ expectations even before she was born in an in utero surgery. High-Risk Surgery Before She Was Born “I Had a Feeling that Something Wasn’t Right” During her 16 week ultrasound, Nicole noticed the technician acting cautious. She said, “During the ultrasound, the technician was asking me a lot of questions about my health. It seemed like she was taking a lot of pictures of the fetus..she said ‘you need to need with the doctor. She needs to go over your results.’ My mind just immediately went to the worst situation that something wasn’t right.”
The doctor then informed Nicole that her daughter had Spina Bifida. He discussed a few options of what to do next but ultimately referred Nicole to a perinatologist. Three Options Presented at Diagnosis When Nicole met with the perinatologist, a special high-risk OBGYN, he discussed three options for Nicole and her unborn daughter. She recalls, “when I met with the perinatologist, he said, “there are your options: you can abort the fetus, you can see if you qualify for in utero surgery, or you could do surgery after the baby is born.’’
Not really knowing what an in utero surgery entailed, Nicole further researched it. She said, “It was something very hard for me to wrap my brain around, having surgery while you’re pregnant and then staying pregnant...I thought about that and talked with family members and friends, trying to get any information from anyone who had heard about this and I look it up online, Googling it.”
After talking with a nurse and getting many questions answered, Nicole made the brave decision to have the in utero surgery. The Results of Having Surgery While Pregnant Having such a high risk surgery, there were only three hospitals in the country that offered in utero surgery. “The results were better than I’d hoped for..she had a reversal in her brain malformation. She has surpassed all of her doctors’ expectations. Regarding her mobility, we were told best-case scenario was that she would use a walker or braces to walk for the rest of her life, and not she’s running and walking without any assistive devices.”
Even though Piper has excelled because of the surgery, Nicole experienced some complications after. “Surgery went well, but the healing afterwards did not. I was in the hospital for about six weeks until she was born in an emergency c-section.” Nicole stated. The Challenges of Finding a New Norm Nicole described finding a new norm was part of the challenges she now faces. She explained, “It has been difficult accepting that our norm is different. It has been difficult to not wish it were different for us. It’s difficult knowing that we will be different from her peers and from her siblings, and that she will have challenges that other kids won’t. It’s difficult knowing that I can’t control a lot of that..I want to teach her to embrace who she is and embrace her strengths.” Dating Someone Who has a Child with a Disability Nicole was lucky to find Adam when Piper was three years old. Adam had this to say about Piper, “She’s just so easy to fall in love with; she has such a personality. It wasn’t really difficult. If you understand the expectations, there is so much upside to it.”
Adam's other children were nothing but welcoming to Piper and Nicole. Adam explained the impact having Piper in their family has had on his biological children, “It’s like the light. That’s the only thing they talk about...when they are at their mom’s house, they talk about Piper all the time. It’s remarkable the impact that one person can have.” “Her Quality of Life is Going to be Just as Great.” The decision to choose life can be difficult when filled with uncertainty. Nicole said, “I would say to seek as much information as you can..I thought that from what I’ve been told and from what I’ve learned about Spina Bifida, her quality of life is going to be just as great.
Auni lived a short life due to Spinal Muscular Atrophy. Despite this, she made a lasting impact on her parents and all who knew her.
Christie and her husband built their family by adopting special needs children, 26 of them to be exact. Special needs children bring such joy into a home.
Alie and Tyler have an extremely unique family. They have three children, all who have different disabilities. Jack has Asperger’s, Amelia was diagnosed with anencephaly and died two days after she was born, and Owen has albinism and is legally blind. Becoming Flexible Amelia Alie and Tyler received their first diagnosis when Alie was pregnant with their second child. Alie was 20 weeks pregnant and was told their baby had Anencephaly. Alie recalled, “They wanted to make sure that we knew at that appointment that our baby had no chance of survival. I remember the doctor look at us and saying, ‘Would you like to terminate the pregnancy?’ As he was saying that, I could feel her kicking inside of me and I thought, ‘No way, this is our child.’..That night we went home and became crazy google people and learned everything that we could about Anencephaly. It was hard; it was really really hard.”
Anencephaly is when there is a neural tube brain defect which causes the brain not to form much above the brainstem. Choosing Organ Donation After Your Baby Dies Even though Alie and Tyler knew Amelia would die at birth or shortly afterwards, they made the brave decision to carry her to term and have her be an organ donor. Tyler said, “People though we were crazy and that maybe it would be a waste of time, but we kept trying, knowing that in one way in which Amelia’s life could have some purpose for everybody.”
There are a several rules and guidelines set into place regarding Amelia’s organ donation. One of which was that Amelia needed to live an optimal number of hours after birth. Amelia surpassed that number and therefore only her heart valves were able to be used for donation.
Alie said, “Throughout all of this, we knew we could help other babies, and we didn't get that it was heartbreaking. That was hard to deal with, being in the hospital with her and wishing she could die earlier so that we could help these other babies.”
Amelia ended up being able to go home where she lived for another 12 hours. In total she lived for two-and-a-half days. Much longer than doctors anticipated. Giving herself a chance to truly become part of the family. Owen Two years after Amelia had passed away, Alie and Tyler welcomed Owen into their family. Alie recalled, “I don’t know if you ever feel ready for another pregnancy after you’ve buried your baby. I was just really scared, and it was really hard on me..I knew deep down that something wasn’t right and started pestering the doctors, trying to get an appointment and kept getting pushed off. I kept insisting that something was going on.”
Alie was right. After finally getting an appointment with an opthamologist, Owen was diagnosed with nystagmus, strabismus and albinism.
Owen’s eyes would rapidly wiggle back and forth. When he was around two years old, he received surgery to correct the nystagmus. A simple procedure that Alie and Tyler said has made all the difference along with glasses for Owen. Jack Alie and Tyler are no strangers to having children with disabilities. Their oldest Jack wasn’t diagnosed until he was a little bit older. Alie described that experience as, “When Jack was around one-and-a-half to two-years old, we started seeing some differences in him. He was evaluated for speech, so we did speech for maybe three to four years...he taught himself to read, but we notices his interactions with his peers were different. He struggles a little bit socially, and we finally got the diagnosis of Asperger’s”
“By that time, we thought, ‘okay, third time around, we can handle this’ but it’s troubling for us that this was under our noses the whole time. It made it a little harder emotionally..we felt like we missed something that we could have helped him earlier.” Tyler said.
He continued by saying, “We didn’t get that diagnosis just so that we could apply a label to him; we got that diagnosis so that we could learn how to help him.” “Sometimes We Have to be Flexible”
Austin is a six year old boy who has Down syndrome. His parents, Tiffany and TJ, share what a joy he is in their lives and to their families. Tiffany and TJ are heavily involved in their local Down syndrome association which brings awareness and inclusion to their community. Down Syndrome: An Amazing World “I Knew He Did” Immediately after Tiffany and TJ’s son Austin was born, Tiffany noticed Austin’s almond shaped eyes, she said, “Officially, we found out about a week after he was born, but when he was born I knew he did.” Some Challenges in Raising a Child with Down Syndrome Tiffany said, “He was three before he really walked. Potty training a child with Down syndrome can be challenging. We potty trained him before he could walk on his own. People with Down syndrome have low muscle tone, so he used a walker. He did really well at potty training for a good year and a half, but not great. He’s currently going through a potty training regression, which is common in kids with Down syndrome.” Finding Joy in the Small Things Tiffany shared, “I definitely think some of the joys are when he hits developmental milestones, because that takes a long time. Those were precious and more important than I had remembered before with our other kids, that some things came to them quickly and they knew how to do that. We didn’t feel the triumph of it as much, but those have been some really big joys.”
“He loves people, and he loves to entertain. He’s a big people-person; he wants to be with people and learn. He loves books; that has been a huge joy. Some basic things are appreciated more than with my other kids that came easier to them. I’ve really found a lot of joy in small things.” Impact on Their Family “For our daughter Jade, it has made her a lot more open and aware of her surroundings. I can see how she interacts with other kids who have Down syndrome, or kids who have any other kind of disability. She’s very cognizant of how she can help others and how she can interact with them.”
“For James, one of the things that was interesting to me was that soon after Austin was born, we had a friend whose son has SMART (Spinal Muscular Atrophy with Respiratory Distress). It’s a very rare disorder, and so shortly after Austin was born, James decided to do a birthday where instead of getting gifts for himself, people would donate to this organization that helped kids with SMART. For our children, it has made them more aware of the world around them and how they can help other people.” TJ stated.
Tiffany shared her views on Austin’s role in their family. “They’ve seen us enough with advocacy, working with Down syndrome awareness month and with World Down syndrome Day. I think that recognition made them want to participate. There was a time where I thought they didn’t need to do anything, because I didn’t want to pressure them to do stuff, but they said they wanted to do something. Even today, we were sharing about something at school so that they could celebrate it with their friends. I think that’s a really good opportunity.” Becoming Involved “We started attending (their local Down syndrome association group) after Austin was born. I went to the first meeting. I’m a social worker, so I like group things and support. I thought, ‘okay, he has Down syndrome; let’s go meet some people who have children with Down syndrome and learn from them.’..It’s amazing the connections that you make meeting people through that group, finding good friends who understand things differently than most.” Tiffany said.
She continued saying, “I just felt like when Austin was born, that this is something else we need to learn about. We can do it if we reach out. We’ve gone to national conventions and learned a lot from experts and other parents. It has been an amazing world to step into and to learn from so many people.”
Tiffany and TJ are now heavily involved with the local Down syndrome association in their community, East Texas Down Syndrome Group,
Georgia and Nick first started noticing signs their son Lincoln was regressing developmentally. After getting diagnosed with Autism Spectrum Disorder, they share their joys and struggles coming to terms with his diagnosis. Winning the Lottery “That was the moment I knew something was up” Lincoln was a year and a half and was excelling in his speech. As he got older, he started losing some of his language. Georgia recalls, “The older he got, the more he lost speech and stopped interacting as much. He started having a really hard time being out in public, so I started to suspect Autism...I didn’t really want to face it.”
“On Thanksgiving Day when he was two years old...I remember saying ‘Come get the ball! Come get the ball!’ and he couldn’t say the word ball. That was the moment I knew something was up and that he had lost so much speech..that’s when I knew I had to get him checked out, and it was shortly after that when we had his diagnosed. Accepting the diagnosis of your child For Nick, accepting Lincoln had Autism was hard. He said, “I was in denial at first; it was hard for me to accept that something was wrong. It felt like the world was against me..I looked past some signs, and I excused somethings as just a phase or maybe he wasn’t feeling well. I was hard for me; it was a struggle.”
While Georgia was the one who first suspected Autism, she shared her reaction to Lincoln’s diagnosis, saying, “At first it was just getting to understand that even though I knew my kid, I felt like I didn’t know my kid. After that diagnosis, I didn’t know what to do. Finding support Luckily, Georgia and Nick had neighbors with children on the Autism Spectrum. Georgia was able to rely on them for guidance. She said, “For me, the challenge in the beginning was knowing what to do to help him, because I had no idea. We went to early intervention..they were great but they couldn’t suggest services and they couldn’t tell us what he needed.”
She continued, “I got every book I could get, and I had wonderful neighbors who had kids on the spectrum who guided me as to somethings that I should do.” A miracle Despite having a diagnosis and knowing what Lincoln needed, the cost of getting the care was too much for Georgia and Nick to provide. Georgia decided to take over part of his therapy to help offset the expense. Then something amazing happened. Lincoln won the lottery!
Georgia said, “The state of Utah started a lover to cover behavioral therapy for kids on the spectrum because they hadn’t covered Autism insurance before. They decided to do this lottery, and my son was a winner; he won the lottery! We got free therapy after that, and it made a huge difference.” Changing expectations For Nick, finding joy in Lincoln’s diagnosis has come from shifting his expectations. He said, “I had some expectations of what it would be like to be a dad, that we would watch sports together, play catch and just be two peas in a pod, I guess.”
He continued, “I would counsel you to keep in mind that reality is often different than expectations, and that’s okay. Part of the joy of life, the mystery of life, is experiencing new things, learning new things, being challenged and working through difficult times. As crazy as that sounds, be patient; go ahead and grieve as you need to, but remember that Autism in particular is a very unique diagnosis, and kids on the Spectrum are all different. For the most part, every kid I’ve met on the Spectrum is a great kid, a kid who is genuine, who will be honest with you and will let you know their feelings. They have no guile is what I’m trying to say, and that is a precious quality.”
Doctors told Stephanie and Andy, their unborn child had anencephaly and wouldn't make it to birth. Grace impacted many in her 10 hrs and 32 min of life.
Cora and Tray were relieved once their girls were finally diagnosed with Rett syndrome. Now that they had a diagnosis, a game plan could be made.
It took six years for Sandra to receive a diagnosis for her son Tony. He was diagnosed with ADNP syndrome and was the 11th person to be diagnosed. With little information available, Sandra set out to create more awareness for her son’s extremely rare disability. Ten years later, she has helped find a genetic file marker for ADNP, started a non-profit organization, and created a Facebook page to help unite parents. Determined Mom Paves Path for Many Others NICU stay reveals heart defects When Sandra had her twin boys, they seemed nothing but perfect. She said, “After a little while, Tony was not keeping his body temperature up and he was not sucking, so they brought him to the NICU.” It was there at the NICU that they discovered that Tony had four heart defects.
“He had a very large VSD, he had an ASD and he had something called a right aortic arch; which means his arch is going the wrong way in the vascular ring.” Sandra said. Those heart conditions are usually associated with a disorder known as chromosome 22 deletion. They immediately sent off for testing and anticipated the results. A few weeks later, the results came back as negative. This led Tony’s parents to believe that his heart defects were an isolated event and not caused by a disorder. Having twins reveals differences in development Sandra said, “..what quickly became evident as the boys were growing, was something was off with Tony. He wasn’t looking at us, he wasn’t playing with toys, he wasn’t hitting any of those developmental milestones like his brother was.”
They hoped that he would eventually catch up to his brother but then they started receiving different diagnoses. “They told us he had cortical blindness, which doesn’t mean he’s bling, it means his brain wasn’t processing his vision.” MRI reveals abnormalities in brain The doctors sent for an MRI to further investigate his cortical blindness. “That’s when our worst fears were confirmed that something much bigger was wrong with Tony.” Sandra said. They discovered several brain abnormalities that would lead them to a long and tedious journey.
Sandra said that he had a long list of symptoms that no one was able to tell them what was going on. Tony was bounced back and forth between different specialists who kept playing the blame game. “..everybody would ping-pong back and forth with the blame game, but no one had any idea of what to do. That was the most frustrating thing.” ADNP syndrome Also known as Helsmoortel-VanDerAa syndrome, it is an extremely rare neurodevelopmental genetic disorder that affects several different systems of the body. Sharing Tony’s symptoms, Sandra said, “He had extra axial fluid and he had poor malnization, cerebral atrophy twice, he has seizures, congenital heart abnormalities, feeding problems, he would aspirate and throw up, he couldn’t chew, he couldn’t swallow, he had a feeding tube, he had global developmental delay, which included gross motor, fine motor, and oral motor.
She continued saying, “He also has autism, severe cognitive and speech delays, his neurological structural and visual impairments, he’s in diapers, and he has sleep problems.” Diagnosis brings uncertainty for parents While most parents receive a feeling of relief in finding a diagnosis for their child, Sandra said that for her, a diagnosis came with more frustration. After getting Tony into every genetic testing available in the country, Sandra finally received a diagnosis for Tony. The problem was, it didn’t even have a name yet, and there were only 10 other people documented in the world of having it.
Sandra said, “That diagnosis was almost more isolating because Tony was the only child in the U.S. that got diagnosed.” They were given a piece of paper that had little to no information on it. This proved difficult in knowing what interventions to start Tony with. Rare diagnosis opens doors Tony’s diagnosis stumped some of the country’s best doctors. Sandra decided,
Griffin is a young boy with Goldenhar syndrome. He is proud of who he is! His positive attitude helps his parents not view his diagnosis as a bad thing.
Baby Ammon was diagnosed with DiGeorge syndrome and numerous other abnormalities. His parents are grateful he is here despite the difficulties.
Roland was diagnosed with ADNP syndrome at age four. Since then, his parents have spent their time researching ADNP syndrome and helping other parents too.
Larkin is the only known child to have Down syndrome and SMA, Spinal Muscular Atrophy. Her 12 years of life have been difficult, but worth every minute.
Mason has a long list of medical complexities including a double chromosome deletion. Despite his many medical challenges, he is a light for his family.
Twins, Kay and Kara, were born with Quadriplegic Cerebral Palsy. Their sister, Kellie, shares her experiences of having a sibling with a disability.
Jacob is the first person to ever be diagnosed with a single gene mutation. His parents have learned to live in the moment and love their journey with him.
Ann gave birth to beautiful identical girls. When they were only a few hours old, they noticed something might be different with them. They were later diagnosed as having spastic quadriplegic cerebral palsy. Ann shares her journey in fighting for her daughters lives and how they have been a blessing to her family. Twins with Spastic Quadriplegic Cerebral Palsy Twin girls started having seizures Ann recounted the night Kaye and Karen were born. She said, “They were just beautiful. They were the talk of the hospital that night. When my husband was there, we were feeding them , and they acted like they were gagging on the milk.” They called the nurse in who took them into the nursery for observation.
While in the nursery, the twins had a seizure and were transferred to the NICU. The following morning it was apparent that the twins had something more going on with them. Getting a definitive diagnosis At about three-months-old Kaye and Karen received their official diagnosis of spastic quadriplegic cerebral palsy. The doctor who gave the diagnosis strongly encouraged Ann to place them in an institution and forget that they were ever born.
Ann quickly said, “I literally came unglued and told him that the Lord had given me these two babies and they were my responsibility, and that I was not going to put them away, and that they were mine and I was going to do whatever I had to do to take care of them.” Crushing doctors’ expectations Ann was told that at one point that her girls wouldn’t live past the age of one, then three, then five, then eight. After growing tired of hearing her girls were going to die, Ann told the doctor, “Look, they are going to be here as long as God wants them to be here, so I don’t want anybody telling me they aren’t going to make it through this because i am going to fight tooth and nail for their lives here on this earth.”
Kaye and Karen proved the doctors’ wrong everyday. Karen and Kaye have lived for 41 years. Sadly, two months ago, Kaye passed away from medical complications following a broken bone. Fighting for children with disabilities There were several things that Ann did to help ensure Kaye and Karen stayed healthy. Ann shared, “Little Kaye was always my respiratory one. It seemed like she always contracted anything that anybody brought through the door, so we had to make sure that we put signs up saying ‘If you’re sick, please do not come in.’
Another way Ann fought for Kaye and Karen was pushing to get a feeding tube for them. Both girls were able to eat by mouth. However, their diagnosis made it very difficult for them to chew and swallow. Ann said, “After we had the feeding tube put in, she just thrived” Saying goodbye to your child “With little Kaye, one morning I went to pick her up to brush her teeth and give her a drink, and her little arm broke. We had to take her to the emergency room, and they would not touch her because her little bones were so fragile and porous..so so ended up with a blood clot that came from the arm into the lungs and that’s finally what took her.” Ann said.
Spastic quadriplegic cerebral palsy affects every aspect the body. Both Kaye and Karen were in wheelchairs their entire life and were unable to put weight on their legs and arms. This caused Kaye’s bones to become fragile. The effects of raising a child with special needs on your family Ann has an older daughter named Kellie. We interviewed her and can check it out here. Ann shared how having Kaye and Karen impacted Kellie’s life. She said, “My parents basically raised my oldest daughter for a while. I just couldn’t give her the attention that she needed, and she loved being with grandma and grandpa.”
She also spoke of her husband saying, “..while he loved them dearly and did anything he could possibly do for them, he didn’t realize the blessing they were to him until later on in life.” Contact the state immediately to receive services Kaye and Karen were total care,
When Wil was born with Down syndrome, his father thought his world was over. He has since realized, what a blessing Wil is to family and strangers alike.
At the time of his diagnosis, Parker was the 85th case person to be diagnosed with ADNP syndrome. He has a rare genetic condition that can cause a variety of different abnormalities. Kayla and Josh talked about their journey towards finding a diagnosis and what life has been like with Parker. Rare Diagnosis Brings Joy and Love for Parents Baby missing developmental milestones Early in his life, Kayla and Josh noticed that Parker was falling behind developmentally. However, Parker was their first child. Josh shared, “Well we went through, you know he’s out first kid. Part of it you don’t know what to expect with your first kid.”
After realizing that he wasn’t where he should be they took him to their pediatrician who explained that there is a wide variety in children. They wanted to think that nothing was wrong. Around the time Parker was 12 months old, they realized it was more than just differences in children. Whole exome sequencing genetic testing Parker had just started army crawling when they started looking at other possibilities behind his global developmental delay. Josh said, “.there was a year long deal of just trying to rule things out. We had a really good genetics doctor..So he put us through to get the testing, the whole exome sequencing, which is still kind of a new deal.”
They were lucky to receive their results quickly and their insurance covered the test. Kayla said, “I didn’t expect to get a diagnosis. I had read that there’s maybe a 25% chance that we would get one from the whole exome sequence thing. Just generally I was surprised for then it to be something so rare.” ADNP syndrome Kayla described Parker’s diagnosis as, “ADNP syndrome is a rare, complicated, neuro-developmental condition...you start out with global developmental delays, speech is severely affected, many of them have autism and intellectual disability.”
She continued saying, “It affects you know various systems. A lot of kids have heart defects, sleep apnea..abnormal MRIs. Some children have had brain atrophy, so it affects a lot of different things, and the children in different ways.” Paradigm shift Kayla described that for her, changing her view of what Parker’s life is going to be. “I think kind of coming to terms with that. Just the whole change in what I expected his life to be..probably realizing that the chances of him living independently as an adult are very slim.” However, she noted that since Parker is such a joy to be around that she doesn’t ever want him to leave.
Josh also experienced a change in his expectations as well. He said, “..you have an idea of what you’re expecting your life with your son to be. Your typical take him to the baseball game or the football game. So you know and that kind of just goes out the window.” The joy in raising a child with a disability Despite having to find a new reality with Parker, both Kayla and Josh described the undeniable joy Parker brings to their life. Josh said, “He’s a happy kid..he’s got this inner peace and joy that’s just contagious..I mean he puts a smile on everyone’s face, and that’s just who he is..he’s just a happy, mischievous, loving and even caring I would say.”
Feeling like Parker has made a great impact on everyone he meets, Kayla said, “I feel like he is changing all of us for the better, I feel like anyone that gets to know him, their lives are impacted by him. I can see kind of our group of friends, all their children are typically developing, and as they kind of learn about Parker, I can see him touch them as well.”
She added, “I would say that whenever it’s been a really hard day with all the therapy, or he’s had a meltdown or whatever I’m upset about it, and Josh will always remind me, ‘Just forget about all that, and just go play with him.’ and sure enough he gives me one of those huge hugs.” Wouldn’t change a thing At first, when Josh heard parents of children with disabilities saying that they wouldn’t change anything about the...
Laura and Devin had only been married for three years when Laura’s youngest sister, Annie, came to live with them. Annie has Down syndrome and was 13 years old when her mother passed away. Laura and Devin share the positive impact Annie has had on their family and their lives by living with them. Sister Turned Guardian Growing up with a sister with a disability Laura was eight years old when her youngest sister Annie was born. It came as a surprise to the family when they learned that Annie had Down syndrome. Annie, a fraternal twin, was the only one with a diagnosis.
Annie had a great relationship with most of her siblings. For Laura, their relationship was slower growing. Laura said, “I remember one night laying on my bed crying, and my mom came in and asked what was wrong.” Laura was sad that she didn’t feel connected to any of her siblings. Her mom advised her to pick someone and spend time with them to help grow their relationship. Laura picked Annie. She said, “As I did that, Annie and I just got closer and closer.” Their relationship was something that ended up changing the course of both of their lives. Losing two family members in one year When Laura was in her early 20’s when her mom and her younger brother were both diagnosed with cancer. Daniel, her brother had leukemia and her mom had breast cancer. They both were in remission when Laura married Devin. Unfortunately three months after they got married, Daniel was re-diagnosed with leukemia and passed away three weeks after he was re-diagnosed.
The impact of losing Daniel was significant on the family. Especially for Annie, Laura said, “It was devastating for our whole family..Annie took it horribly; it was her twin brother, and people say that twins had a special bond and they do.”
The family then suffered another significant loss. Laura’s mother was re-diagnosed with breast cancer and diagnosed with lung cancer, bone cancer and brain cancer. She passed away nine months after Daniel leaving a massive hole in the family. Taking over for your parent Before their mom passed away, she was able to talk about her wants and wishes for Annie. Laura recalls, “ She had these goals for Annie, and she would make them happen. She had envisioned this life for Annie and talked about it so much. Almost everything has happened.”
After losing their mom, Laura and her other sister Emily became what they called it ‘a power team.’ They took over caring for the youngest two siblings who were still in school. Emily was paired up with Julia and Laura helped with Annie. Laura had recently started her education as a special ed teacher and knew some of the IEP process. This helped Laura navigate through Annie’s schooling. Becoming your sister's legal guardian Early on in their relationship, Laura made sure that Devin was okay with Annie coming to live with them at some point. Laura recalled, “..as things got more serious and we were engaged, before we got married I said, ‘I just want you to know that if we get married, you have to be okay with eventually down the line being willing to have Annie in our home.’ He said, ‘Yeah, of course, I’d be happy to have her.’ Devin was always great with Annie.”
Three years after Laura married Devin, Annie came to live with them. When Annie turned 18, they obtained guardianship. Annie becoming part of their family became a gradual process that has benefited both Annie and Laura and Devin. The impact of having an aunt with Down syndrome When Annie first moved into Laura and Devin’s house, they didn’t have children of their own. Fast forward to today, they have three. Laura said, “Annie has always had an amazing relationship with our kids...we call Annie ‘the baby whisperer’ because she can put any kid to bed and helps them fall asleep so well and easily.”
Somedays Annie is the aunt and more of an authoritative figure to their children. Other days, she is a sibling. Devin said, “They’ll fight and bicker,
Ryann was a foster mom when she got a call about a baby with Spina Bifida who needed a home. She eventually adopted him and has enjoyed the journey.
After going through some challenging, family experiences, Mercedes and Andy decided to adopt a child with Down syndrome. They are forever grateful they did.
Connie has been taking care of her daughter with cerebral palsy, cognitive impairment, and a seizure disorder for 41 years. She finds happiness every day.
Courtney and John struggled to parent their daughter who had serious behavioral issues. Once she was diagnosed with autism, things drastically improved.
Emerson was diagnosed with Congenital Nephrotic syndrome as a baby. Life has been anything but normal, but a kidney transplant will change everything.
Shortly after Tell was born, he was diagnosed with Syntelencephaly, a rare condition. His family has learned to find joy in their daily challenges.
Jennifer's whole life has been shaped by her sister, Vanessa, who has Down syndrome. She wishes everyone could experience the wonderful life she has had.
Tyson has Fragile X syndrome. His diagnosis has made life anything but normal but his family learned to adapt to his needs and still enjoy family time.
Having a sibling with autism and epilepsy was difficult for Stephanie for many years. However, she loves her brother dearly and is very grateful for him.
At age 7, Jace was diagnosed with Cockayne syndrome, a rare, fatal disorder. To give him the best life possible, his mother was his strongest advocate.
Having a brother with MPS was challenging for Nathan growing up. He is now taking his experiences and helping others who have a sibling with a disability.
After finding out her unborn baby had Anencephaly, Summer decided to embrace her time with him by carrying him to term and then donate his organs.
Brenna was born with Harlequin Ichthyosis, a rare skin condition that requires constant care. Her condition teaches that beauty is more than what you see.
Max was born with numerous medical complications involving his heart and brain. His short life brought his parents much joy and peace.
Will has three older siblings and all of them have a disability. His childhood wasn't "normal" but his siblings have shaped him into who he is today.
Chase has Chromosomal Deletion 9Q, a rare genetic condition, and a cleft lip and palate. Despite all the unknowns, his parents live each day to the fullest.
Tessier Cleft lip gives Christian a very different appearance from other kids but he is a typical 6-year-old that brings his family joy every day.
When their son is born with Achondroplasia, Kelly and Zac rely on God for comfort and strength in order to find peace with their new family dynamic.
When Jackie was diagnosed with CHARGE syndrome, her mom was overwhelmed by all of her impairments. Since then, she's learned to enjoy every day with her.
Josh and Megan learned to embrace their lives with their son who has Apert syndrome. He requires a lot of surgeries but they see him as a complete joy.
Evanna was born with DiGeorge syndrome. A 400-day hospital stay wasn't easy for her parents but it strengthened their marriage and love for their daughter.
A routine prenatal ultrasound showed Katherine’s baby had shorter limbs than was typical. Baby Arabella was misdiagnosed with fatal disorders twice while in utero. Katherine and Jeff refused to terminate the pregnancy. It wasn’t until she was born that they got an official diagnosis of Ellis-Van Creveld syndrome. Arabella is now a beautiful 2-year-old who has touched many lives. Carrying on despite two fatal diagnoses Fatal Misdiagnosis
At their 18 week ultrasound, Katherine and Jeff were expecting to find out the gender of their baby. When the ultrasound tech got quiet, they knew something was wrong. Katherine recalls, “I noticed that the person scanning kept going back to Bella’s long bones and her arm and her legs multiple times.” Her doctor decided to draw her blood and screen for the common trisomy disorders. When those came back as negative they were referred to another hospital.
“The doctor’s first sentence, which I’ll never forget, was, ‘Your baby is not doing very well.’..the doctor went on to explain that not only were her arms and her legs measuring shorter than average, but her thoracic cavity and rib cage was much smaller as well. This had led them to a diagnosis of what’s called thanatophoric dysplasia, which is a form of dwarfism, but it's a lethal form of dwarfism.” Katherine added.
Choosing not to terminate despite being encouraged to
Despite the doctor’s heavy influence, Katherine and Jeff decided to continue with the pregnancy. Katherine said, “..both of us agreed that there was no chance that we wanted to terminate this. We knew that we might not get much time with her, but we wanted to give her any chance she had. We didn't choose the day she was conceived, and we refused to choose the day that she would die.”
To everyone's surprise, during another ultrasound, there was growth in Arabella’s rib cage. Something that shouldn’t be happening with her diagnosis. A month later, more growth. This prompted doctors to re-evaluate the previous diagnosis.
Short rib-polydactyly
With an incorrect previous diagnosis, doctors were struggling to figure out which form of dwarfism Arabella had. Finally, they came up with another diagnosis, Short rib-polydactyly syndrome.
Katherine recalled, “They thought they saw an extra finder and an extra toe on the ultrasound..it was at this point they told us that Short Rib Polydactyly syndrome once again is 100% lethal.”
Misdiagnosis brought confidence
Jeff had this to say about the doctors’ misdiagnosis, “The very fact that they had misdiagnosed the first go-round gave us some confidence that they may have misdiagnosed the second, so while it was hard and we had not scientific basis for hope at that point, we had hope.”
“They weren’t bringing her back to die”
Prior to the birth of Arabella, Jeff and Katherine were prepped on three possible scenarios of how the delivery might go; all three were grim. Katherine shared, “My husband has researched burial plots, and I researched and found a foundation that send burial gowns made out of old wedding dresses, and though we had hope, we were also prepared for the possibility we would not bring our daughter home.”
Katherine described the birth of Arabella as, “She was born on a Sunday around 12:30, screaming her head off, which I knew immediately was a good sign..they took her right away for assessment..I asked if someone could go please check on my baby and tell me how she’s doing. They sent someone over to the assessment room and she came back a few minutes later and said, ‘Your daughter scored nines on her APGAR. She’s doing great, and they are going to bring her back to you in a couple of minutes.’
They weren’t bringing her back to die; they were bringing her back a very pink, very much breathing beautiful baby girl.”
A second misdiagnosis
After Arabella was brought back to Katherine, she never left her side again in the hospital. They were sent home after three days with no breathing assistance and no ...
Karen was surprised when her son was born with Down syndrome. She hopes that through her work, the world will be more accepting of those with disabilities.
When her son was born with Cornelia de Lange syndrome, Lauricia relied on family and outside resources for support and to learn about this rare disorder.
Heather suffered a traumatic brain injury as a child which changed the course of her life. Her parents chose to be grateful for the miracles along the way.
Angie worried about what her daughter's life with Stromme syndrome would be like. She has come to learn that the world is full of loving, caring people.
Mandy is glad she didn't terminate her pregnancy when her unborn son was diagnosed with Hydrops Fetalis. His short life meant everything to his family.
During Tori's pregnancy, she contracted CMV which resulted in Lana being born with cerebral palsy. This family finds joy every day despite the struggles.
Casey was devastated to find out her baby had a limb difference. Once he was born, however, all her fears disappeared and she is humbled to be his mother.
Kimber's Prader-Willi syndrome diagnosis came as a relief to her parents. Her parents are grateful to have a daughter who is an inspiration to many.
Avianna was diagnosed with PPP2R5D, a very rare disorder, at age 3. Her parents learned the best thing they can do for her is being her strongest advocate.
It was discovered in utero that Ava would have PRS just like her dad. Jenna and Dan know what to expect but still rely on each other during challenges.
Potocki-Shaffer syndrome is an extremely rare genetic disorder. So rare in fact that only a handful of people have been diagnosed with it. Betty, a sweet four year old, is one of those people. Her mom Sarah shared what life has been like so far caring for Betty and the challenges and joys of having her in her life.
Children are More Than a Stack of Symptoms Thinking Everything is Normal At the 20-week ultrasound, Sarah was told there were a few red flags with her baby. Their doctor referred them to maternal fetal medicine where they ran additional tests. After a level two ultrasound and blood work she was told, “..your baby looks great, like no worries. Just enjoy the rest of your pregnancy.”
Sarah continued on with her pregnancy thinking everything was normal with her daughter. “When she was born, we noticed she was different from our first daughter.” said Sarah. Before she was born, they had been told that each baby was different and to not compare her to her sister. However, as time went on, Sarah became more concerned with her development. Globally Delayed at Two Months Old There were a few concerns Sarah discussed with Betty’s pediatrician at her two month check up. “One thing that she had was a hernia..she also had a weird choking, coughing, gagging thing she would do. She wasn’t smiling and she wasn’t looking at us.” Sarah said.
Thinking the hernia was a big concern, they were shocked when the pediatrician said, “This little hernia looks like a big deal but it is the least of your concerns.” At the top of the early intervention pamphlet he gave them, he wrote ‘global developmental delays’. Something Sarah questioned, “How could she be globally delayed at this point already?” No Answers After Months of Testing Early intervention was helping Betty progress, however, her progression was very slow. This led Sarah to question if there was more going on. Their pediatrician referred them to several specialists who ran an array of tests. Betty received a CAT scan, MRI, chest x-ray, and several others. To their disappointment, everything came back normal.
Sarah was becoming desperate for answers. She said, “We felt that we were dealing with a potentially really scary thing..Part of that just made everyday harder because any time she would get a little rash or have a new cough of something, we were like, ‘Oh no, is this the beginning of a manifestation of some huge thing that we just haven’t discovered yet?’”.
Not wanting to pay out of pocket for genetic testing, Sarah and her husband waited until the insurance would cover it. Finally after a geneticist requested testing, their insurance agreed to pay for it. Feeling Indifferent Towards the Diagnosis After searching and waiting for an answer to why Betty was struggling, Sarah said she wasn’t that relieved when they finally received a diagnosis. Betty is missing part of her 11th chromosome which is associated with Potocki-Shaffer syndrome.
“Before she was diagnosed, I was desperate to have a diagnosis. I thought if we find out what it is, then we’ll have an action plan, a road map. We’ll know what to expect; we’ll know what to do to help her. That just wasn’t the care because it’s so rare with such a huge spectrum of outcomes that really we just had a name for it, but we had no other information.”
How rare was her diagnosis? At the time she was diagnosed, there were only four other known cases in the world. Only one clinical study had been done on the syndrome and all Sarah was given was a six page report.
Despite not finding a diagnosis helpful from a medical standpoint, Sarah was able to find comfort in connecting with parents through Facebook. She said, “That was the biggest thing for us, just knowing people who understood and who could help us know what to expect, what they had dealt with and what life was like with their children.” Potocki-Shaffer Syndrome This disorder affects the development of bones,
Lamp was diagnosed with microgastria limb reduction complex that affected all four limbs when her mom, Miggy, went in for her 18-week ultrasound. Shocked by the unexpected news, Miggy and her husband were devastated. Now seven years later, they realize how lucky they are and how much joy Lamp has brought into their lives. Journey from fear to love An unexpected punch to the gut Hoping to find out she was expecting another girl at her 18-week ultrasound, Miggy excitedly went to her appointment. She was there with her husband and her three-year-old daughter. When the ultrasound tech started acting weird, they knew something was wrong.
Miggy recalled, “..the doctor came in, and we asked, ‘Is everything okay?’ He said, ‘No, no..while her head, heart, spine and lungs look fine, all of her limbs are misshapen, deformed or in some cases, missing bones all together.’ That was like a punch to the gut.” Her doctor continued to talk, saying possible diagnoses, but Miggy felt like his words were water in her head and she was sputtering unable to catch her breath. Left with a series of unknowns Their doctors advised them to see a specialist ASAP. “The biggest thing was that it was such an unknown. Is this condition compatible with life? Is it not? Is she going to live? Is this fatal? There was just a huge unknown for what it meant.” said Miggy.
The first thing Miggy and her husband did was cry. She said that they mourned very hard for the first 24 hours. After calling some family and friends, they had some friends from their local church come over. Miggy said, “They came and gave us a blessing, and we talked with them, and we just prayed. I will say that we felt a lot of peace right away.” Specialists are left not knowing The following week they went to the children’s hospital. Miggy called the appointments with the specialists “sobering events.” She explained that while these five men have several decades of experience between them, none of them had seen a case like hers.
Miggy was handed a paper that had their ‘best-guess’ diagnosis on it. After looking it over for a few minutes, she handed it back and said, “That’s not her,” Deep down she knew that wasn’t the diagnosis for Lamp. They continued on with the pregnancy, seeing the doctor every week for monitoring. Finding out her actual diagnosis Up until she was born, there were many unknowns surrounding Lamp’s limb differences. They expected there to be several complex issues related to her limb difference. To their surprise, she had no other medical complications. As soon as Miggy saw Lamp she said, “She’s perfect.” Miggy and her husband both knew that she was theirs, they just loved her.
Lamp was diagnosed with microgastria limb reduction. Miggy explained, “She has a wheelchair..she is missing most of her left arm. Her right arm is also much shorter; it stops where a typical elbow would stop. She doesn’t have fully formed hands. She has a hand that has three fingers all fused together. Her legs are shorter and are different lengths.” Using a blog to share positivity about disabilities Miggy has a blog called, thislittlemiggy.com where she documents the joys of having a daughter with a disability. She shared some of the joys by saying, “The joy is that you love her as much as you do the rest of your kids..she is such a naturally happy and joyful kid, and she always has been..she is funny and bright..she is a joy to raise on every level.”
Now looking back, Miggy says she is grateful for their terrible grim ultrasound where they first found out about Lamp. She said she was happy she received the information up front and was able to prepare for it. However, she said that even though it showed what her disability would be “it was so inadequate in telling us the picture of who she is.”
On her blog, Miggy also interviews people with disabilities and parents of children with disabilities. Something she attributes to Lamp saying,
Krissy was 10 months old when her mom Ann started noticing she couldn’t do typical things for children her age. Krissy was later diagnosed with ataxic cerebral palsy with a seizure disorder. Ann has since been a tireless advocate for Krissy and even started a post-high school program in her state. Krissy lived for 33 years and passed away 11 years ago. Ann shares what a joy she was in her family and her life.
Never Giving Up
10-month-old missing milestones Ann arranged for a photographer to come into her home to take pictures of her 10-month-old daughter. This was the first time she really paid attention to what Krissy was able to do. The photographer wanted Krissy to do various things during the photoshoot. To which Ann said, “She can’t do that.”. The photographer was shocked and mentioned that all children her age can do those things. This is when Ann first started worrying about where Krissy was developmentally. When her husband arrived home after an assignment in the military, she asked him to make arrangements for Krissy’s one-year checkup early. Their pediatrician was also their bishop in their church. He replied to the request of an early checkup saying, “I’ve been noticing her at church. I’m glad you called.” That immediately made Ann think something was wrong.
Polar opposite medical recommendations The time they lived in Illinois when Krissy’s school mentioned to Ann that they thought Krissy was having seizures. Ann hadn’t noticed any but decided to take her to be evaluated. The doctor there said what Ann described as, “..the one who gave me the best thing in my whole life.” He told her, “I want you to love this little girl. She is beautiful, so i want you to take her home and love her. She is going to bring joy to your life as she grows. She is going to be harder to take care of, but your body will adapt to it; you will know exactly what to do for her. Just love her and keep her home.” Later on, Ann wanted to know what more she could do for Krissy. She took her to another doctor who gave Ann horrible advice. He said, “I think you need to have a life with your husband. Put your daughter in a state school and leave her there, and you and your husband enjoy your life together.” Ann responded, “I don't think I will come back here again, and I am not going to recommend you to anyone else.” Ann decided she was going to keep doing what she had already been doing. She was going to love Krissy and let her bring joy into her life.
Ataxic cerebral palsy
Since Ann’s husband was in the military they moved around several times. When they moved to Tacoma, Washington, Krissy was officially diagnosed with ataxic cerebral palsy with a seizure disorder. Ataxic cerebral palsy is the least common form of cerebral palsy. It is characterized by clumsy uncoordinated movements. Krissy was total care, she was in a wheelchair and relied on Ann to perform everyday tasks for her.
Advocating for your child It wasn’t until a teacher asked Ann what her plans for Krissy were after high-school that Ann realized there were no options. Ann had chosen to keep Krissy home, which meant there wasn’t a post high-school program in place for her. Ann decided to do something about it. She put a flyer in each of the kid’s fruit bags at Krissy’s school inviting other parents to come to her house for a meeting. Ann said, “I got all these phone calls from people saying that they wanted to come to this meeting and I thought, ‘Oh boy, now I’ve got to plan a meeting!”’ Ann did her research and was able to receive guidance for how to create a plan and how to get funding for their post high-school program. With the other moms in her group, they started lobbying for their children. “Never, never, never give up.” At first Ann said she had no idea what she was doing. When she first started lobbying she recalls being laughed at. She said, “They laughed at me, and that was hard. When they said,
Jessica and her husband were shocked to learn that their daughter, Eliana, was born with a cleft palate. A few days later they discovered she had some other abnormalities. She was diagnosed with Pierre Robin sequence. Bearing the Burden
Unexpected diagnosis Jessica required a c-section for the birth of Eliana. After she was born, the nurses were examining her and discovered she had a cleft palate. Jessica recalled, “One of the nurses came over to me because I was still on the operating table, and she said, ‘I just wanted to let you know that she is looking good, but she does have a cleft palate.’ I was trying to not be emotional and trying to be reserved, so I said, ‘okay’.” “Finally they finished her up and brought her over to me and laid her on my chest..I looked at her and thought she looked completely normal because when I heard cleft palate, my first thought was cleft lip.”
The difference between cleft palate and cleft lip When a child is born with a cleft palate they have a split or opening in the roof of the mouth. A cleft lip is when there is an opening or split to the lip, nose, and the upper jaw. It is possible to have both a cleft lip and palate or just a cleft lip or cleft palate.
Day three is when doctors realized there was more going on It wasn’t until Eliana was three days old when they realized there was more going on. At first they thought she had a cleft palate and a recessed chin. However, while Eliana was in the NICU she had major breathing issues. Her recessed chin was causing her tongue to fall backwards and block her airway. Eliana was transferred to a hospital that could better suit her needs. Jessica said, “That’s when the doctor started talking to us about the Pierre Robin, and what she eventually had was a mandibular distraction.”
Surgery at two-weeks-old Jessica shared Eliana’s experience saying, “At two-weeks-old, she had a mandibular distraction where they actually broke her jaw and put in distractors that help move the jaw forward in tiny tiny movements. She had these little screws that would stick out behind her ears and twice a day at 7 am and 7 pm, they would turn them just a tiny bit, which would move her jaw a tiny bit forward.” “It took them about a month, but they moved her jaw forward to the point where her tongue wasn’t falling back. I remember..for the first time I saw her tongue past her gum line, and I was just shocked. Before it was so far back there, it would only be if she was crying and have her mouth wide open that you could see her tongue.”
Pierre Robin sequence Eliana’s case was an isolated event. Meaning that the cause of her disability was random and not genetic. The doctors were able to determine why she had a cleft palate. Since her chin was recessed, her tongue sat at the roof of her mouth as her palate was forming. Her cleft palate is a U-shaped vs the typical V-shape. Jessica said, “You’ll hear it referred to as Pierre Robin Sequence, because it is a sequence of events: your chin doesn't go forward, so then you get the cleft palate”
Worrying about the future Jessica shared some of her thoughts while she was in the hospital recovering. She said, “I worried about her getting older and dating, and was she going to find a spouse to love you despite this..you worry about her in grade school, what will other kids say” “But sometimes as kids like her get older, their chin doesn’t grow at the same rate as the rest of the facial features, so sometimes they have to have another mandibular distraction..am I going to have to go through this process with my nine-year-old who is going to understand and remember the pain that she is going through? There are still some of those worries.”
Little by little Like most of the parents we interview, Jessica’s advice to parents with a new diagnosis is, “Take it one day at a time. When you start trying to worry too far ahead, you get yourself into a worry rut.” She also gave amazing advice saying,
Ileana and Lorenzo were told at their 20-week ultrasound that their daughter, Giselle, had some abnormalities with her brain. They were given the option of abortion but refused. Now three years later, Giselle has been diagnosed with microcephaly and cerebral palsy. They both agree that Giselle is a blessing and joy in their life. Life Doesn’t Have to be Perfect to be Amazing 20-Week Ultrasound Reveals Brain Abnormalities Ileana and Lorenzo were excited when they found out they were expecting a baby. At their 20-week ultrasound, they found out that their baby, Giselle, had ventriculomegaly. Which means there were abnormalities in her brain. They were assured it was mild and insignificant but still asked her if she wanted an abortion.
Ileana and Lorenzo refused. Results from genetic testing gave them the idea nothing was wrong and they were in the clear. Ileana said, “She was born on November 30 uneventfully. She is great, and we took her home and thought that the worst was behind us, so to speak.” Getting a Diagnosis When Giselle was falling behind for hitting developmental milestones, their pediatrician recommended using early intervention as a precaution. However, Ileana described, “We started PT and OT, and the months kept going and that gap where she needed to be and where she was kept kind of growing further apart.”
Getting a diagnosis for Giselle happened over the course of the first couple years of her life. Ileana first learned about her microcephaly diagnosis when she was looking through some paperwork. She had just been told that Giselle had a smaller head and was below the normal curve.
Getting Giselle’s diagnosis of cerebral palsy came much later. Six months ago Ileana pleaded to find a reason for Giselle’s developmental delays. Giselle’s diagnosis went from global developmental delay to cerebral palsy. Seeing Children with Disabilities as a Blessing For Lorenzo, having a child with a disability wasn’t too difficult to process. He said, “My mom adopted my youngest sibling who had Down syndrome..I just saw him as my little brother, so that transition had helped me prepare for Giselle. I was ready to be a father, to be there for my wife really, and it has been a blessing to have her in my life and appreciate children with special needs.”
He called having Giselle diagnosed with microcephaly and cerebral palsy “a great opportunity to appreciate children with special needs.” Finding Your Voice Ileana explained that the hardest thing so far in parenting Giselle has been finding her voice. She said, “There was so much that was coming at us all the time, and it was difficult just being able to get through this new schedule..At the beginning, there was a lot of, ‘You need to go here, you need to do this, you need to do that.’ It was a lot of conflicting information that made me feel overwhelmed.” Communication is Key Looking back to their 20-week ultrasound, Lorenzo says he would have handled things in a different way. He said, “Through a learning curve on my part, looking back, I wish I would have better communicated what I can bring to the table, how can i help best, what my weaknesses are and how can we work through them so i can be a better father and better husband.”
He wanted Ileana to feel his love and support. He has now learned that he needs to be up-front and honest and say, “Let’s get a game plan going.” Don't Feel Like a Bad Parent When she compared herself to other families in their grieving stage, Ileana felt embarrassed for feeling sad about Giselle’s diagnosis. However, she now has learned that it’s okay to be sad, to grieve and to feel hurt.
In order to help her through her grieving process, Ileana sought out a community of parents. She was able to find comfort and “solid practical advice” as she put it from other parents. They were able to help her to know what that they were going to be okay by redefining her definition of what okay meant.
Her final parting words were,
When doctors first told Leslie that her daughter was measuring small, she didn’t put too much thought into it. She was told the same thing with her son, who was born perfectly healthy. However, after seeing a different doctor, he told her that her daughter would be born with achondroplasia, a form of dwarfism. Leslie shared her struggles with coming to term with the diagnosis and now 4 years later, what a blessing Lilah is. Devastation Turns to Happiness and Joy Blowing off doctor’s findings With her first pregnancy, Leslie was told that her son was measuring really small. They were concerned that he had IUGR or intrauterine growth restriction. He was monitored very closely and when he was born, they said, “Oh, we were wrong. He is perfectly fine and healthy.”
During the pregnancy of Lilah, Leslie was told the same thing. She said, “..they started telling me the same thing around the same time, ‘She’s looking small, your measurements are a little off, you’re measuring small’..and so forth, and I literally just blew it off. Finding out your daughter has achondroplasia They recommended that she do some stress tests and some additional ultrasounds. In the meantime, they moved and switched doctors. She said, “So we went to my new doctor, so we did the ultrasound and the ultrasound tech took a very long time..I, at the time, was just really annoyed because my two-year-old was running around and she was taking a really long time.”
When her ultrasound was finished, her doctor sat her down, placed a box of tissues near her and told her, “Leslie, I think your daughter is going to be born with dwarfism.” Knowing her history with her first pregnancy. She tried to explain that he was wrong. Mid-sentence he told her, “I’m 99% sure.” Fear of the unknown “I really was afraid because I just didn’t know much about it. It was a huge unknown for me, and fear of the unknown, you know there’s always questions and you worry about what you don’t know.” Leslie said. Leslie and her husband started wondering about what Lilah’s life would look like.
They were concerned about her quality of life, if she would survive birth, or if she would get bullied. She said, “..the biggest emotion I had right away was just fear. I was really scared, it was really just a dark day for us, we cried a lot. We were really emotional and just frightened for our daughter.” Miracles surrounding birth The morning of her planned C-section it was the first snowfall of the year, Leslie said, “..so we woke up to all of this snow, and it was just like everyone’s blessing being poured down on us. It was so surreal.” The delivery of Lilah went better than anticipated. They thought Lilah was going to be born under five pounds and would have to spend time in the NICU. Lilah was born weighing almost six pounds and was able to avoid a NICU stay.
While recalling the details of her birth to her mom, Leslie said, “You know mom, I knew everything was going to be okay when I saw all of the nurses smiling, they were all smiling..That day we were very blessed and there were so many more souls in that room than just those nurses, and it was an incredible day.” Achondroplasia There are 200 different forms of dwarfism, achondroplasia is a genetic condition that affects the growth of the bone in the cartilage of the growth plate. Some of the symptoms related to achondroplasia are: shortened arms and legs, large head size, bowed lower legs, flat feet, poor muscle tone and loose joints, and delayed developmental milestones.
An official diagnosis for achondroplasia can only be done by genetic testing. During her pregnancy, Leslie opted out for an amniocentesis. When Lilah was born, she was tested and officially diagnosed with achondroplasia. Fear of what other people thought In the four years that Lilah has been alive, Leslie described the hardest part of taking care of her was the six weeks before she was born. Both her husband and her feared the social implications of havi...
After learning their son had some markers for a genetic condition in utero, Bijan and Zach were offered to abort one of their twin boys. They declined the offer and also declined in utero testing. Jackson was diagnosed with 22q11.2 deletion or DiGeorge syndrome. Three years later, their other son Walker was recently diagnosed with autism. Twins Boys Diagnosed With Two Different Disorders Complications result in abortion advice During her pregnancy, Bijan said, “I was having many complications.” She explained that Jackson’s fluid was really high and that his umbilical cord wasn’t attached properly. They were given two options; be put on bedrest and expect a very early delivery, or terminate baby B, Jackson, and continue the pregnancy with baby A.
“We both declined immediately, and they were born at 31-weeks gestation. 40 weeks is full-term, 37 for twins.” Bijan said. They also made the decision to decline any in utero testing. A lengthy hospital stay When the twins were born, Jackson weighed one pound 14 ounces. He ended up staying in the hospital for 90 days. Bijan said, “He has an underactive thyroid, but they didn’t figure out his thyroid condition for a while. He was very listless, wasn’t eating properly and wasn’t gaining weight..they kept saying they knew it was a genetic condition but they didn’t know which one.”
They were visited by a couple of different geneticists who came by to try and figure out what Jackson had. They ran a full-scale genetic test on him and were able to receive a diagnosis. DiGeorge syndrome When he was three-months-old, Jackson was diagnosed with 22q11.2 deletion or DiGeorge syndrome. Meaning that he is missing a small part on his 22nd chromosome. The medical problems associated with this syndrome are: heart defects, poor immune system, cleft palate, difficulties in feeding and gaining weight, and delayed developmental milestones.
Jackson was lucky and escaped any heart related conditions. However, he has had several hospital stays due to surgeries and tests that have been run. Reaction following diagnosis “I think for a lot of people, you can’t really believe it at first. You just expect everything to go perfectly like every parent would. The first day was just denial, I guess..but as the days went on, I grew a little more confident with trust and faith in the whole situation, and I knew it was going to be okay.” Zach shared.
Trying to stay positive and being a good support is something that Zach says has been challenging. He said, “So you just want to be there for him, help him develop and try to be a good dad.” Bijan shared that for her, the challenges have come in watching him go through hard things as an infant. She said, “In the beginning, it seemed like the cards were going to be stacked against him, and I think that was tough.” Finding happiness in his success Bijan shared that her biggest joy is seeing how far Jackson has come. She shared, “He still isn’t the typical three year old, but our joys come from his successes and everything that he does do now..he does have such a great personality, and he’s such a great kid. He’s happy 99.8% of the time, so he’s our whole family’s joy.”
Something Zach has found joy in is seeing Jackson smile and hearing him giggle. He said, “You don’t know what’s going to happen, you never know. Just seeing him smile and looking you in the eye the first time was the biggest joy..I think the biggest joy thus far is his personality and his sense of humor. That has been greater than I could ever really dreamed of, so we both have a lot to look forward to.” Other son diagnosed with autism Walker, Jackson’s brother, was recently diagnosed with autism. Upon finding out that diagnosis Zach said, “It was a long stretch of almost three years. I wasn’t really surprised, I couldn’t really be surprised at that point. All I could really think was, ‘Here we go, let’s just do it.’ We are already there for the boys,
When Maria received the news that her daughter, Serenity Grace, had Trisomy 18 or Edwards syndrome, she was strongly encouraged to abort. Instead Maria moved closer to find better resources that would suit the needs of her delivery. She shared her journey and fears as she anticipates the delivery of Serenity in three weeks. Choosing Life Despite a Fatal Diagnosis Receiving an early diagnosis Maria explained that due to her age, her doctors wanted to do cell DNA testing on her baby. At 10-weeks, she received the news that her baby had tested positive for Trisomy 18 or Edwards syndrome. She asked, “What does this mean for my daughter?”
She was told that this condition was incompatible with life. Women would typically miscarry and if she was lucky to make it past 13-weeks then her baby would most likely be stillborn. She was then told if she wanted to have more children in the future she would need to terminate the pregnancy. The fight was just beginning Upon being asked to terminate her pregnancy, Maria started to question everything. “What are the statistics as to how accurate your tests are? They said they were 98% accurate, and I said, ‘Okay, so there’s still a 2% change that you could be wrong.’ I questioned everything, the validity of the test, where did it come from and how long they been using it.”
Her doctors then wanted Maria to do an amniocentesis to confirm the diagnosis and to pinpoint more what organ would be affected. Maria didn’t want to risk going into preterm labor so she declined. However, for months and months Maria said she was asked to do an amniocentesis. Finally she said, “Enough. I’m not doing that to my daughter. She has a beating heart and as long as that heart is beating my answer is no.”
She knew that her fight was just beginning. Moving to find better healthcare In the state where Maria lives, she explained there is no major medical ward or a NICU. When she would ask questions to what level of care her daughter and she would receive, they were never full of hope. If Serenity was in distress, they wouldn’t perform a C-section, they said they would let nature run its course.
Wanting to give her baby every chance possible, Maria found doctors who were willing to help fight for Serenity. She said the responses she received from her doctors gave her reasons to “get out of this town and go somewhere else, fight somewhere else.” Advocating for your child Despite being discouraged by her doctors, Maria decided to take matters into her own hands. She said, “I found out at 10 weeks then I was 12 weeks, and I wasn’t getting anything positive, so I started making my own phone calls to doctors’ offices and insurance companies.”
After many phone calls she was able to find a doctor who agreed to help her. She said, “It has been awesome here, because this is where they are willing to fight for her. This is where the doctors were willing to open doors for me.” Fear and hope Maria said that her biggest fear is that someone will make a medical decision for her that she doesn’t agree with. She said, “I may make the wrong decision. I ask God daily to please give me clarity..if it comes down to the point where she’s just not thriving and is suffering, that I would know when to say enough is enough and to let me daughter go if that's what it comes down to.”
All Maria hopes for is time with her daughter. She hopes that she will be given a miracle and be able to see her. “I'm aware that I may only get 15 minutes. I’m aware that it may be an hour, days, maybe weeks.” Advice: Don’t stop fighting “No disrespect to the medical community, however, they are medical practitioners, they are not God, and my God tells me that He has the final say. I would say just fight no matter what.” Maria said.
She added that if you feel like you aren’t getting the answers you want for your child to keep fighting. She said, “..then you make another phone call. If they don’t pick up,
Sasha and Gary were surprised to learn that their daughter Zoey was diagnosed with Down syndrome in utero. They were given an option to terminate the pregnancy. Feeling like everyone has issues, they continued with the pregnancy. Several years later, Zoey has had such a positive impact on their lives they are in the process of adopting a girl from China with Down syndrome. Everyone Has Issues Ultrasound Reveals Daughter Has Two Abnormalities Expecting to only find out the gender of their fourth child, Sasha and Gary were surprised to learn that their baby had enlarged brain ventricles. They were asked to come back a week later and there was a suspicion that she had holes in her heart as well.
Sasha said, “..they said the two things combined could really indicate a chromosome abnormality.” They said maybe I should have an amniocentesis to find out for sure. However, Sasha also realized that they were also encouraging her to do an amniocentesis to determine whether or not they would terminate the pregnancy. Amniocentesis Diagnosis Baby with Trisomy 21 Sasha already knew that neither Gary or she would terminate the pregnancy if they received a definitive diagnosis. Still she wondered if it was worth the risk to have an amniocentesis done. Sasha asked Gary’s thoughts about it and Gary said, “Well, you know what, it would be really better if we knew, because then we could prepare at least.”
During her next appointment they confirmed their suspicion of holes in the baby’s heart. It was then that Sasha told them she wanted an amniocentesis. She said, “We did, and then we waited, and then my doctor called me and told me.” Her baby was going to be born with Trisomy 21 or more commonly known as Down syndrome. Thoughts Surrounding a Diagnosis Gary shared his thoughts on finding out his daughter was going to be born with Down syndrome. He said, “At first I didn’t know what to expect, and between all of our different children there have been different issues.. It was scary at first and we thought, ‘well this is kind of new’, but through all the things we’ve been through, we’re okay as long as we're together.”
He also explained that several of their other children had health scares when they were first born too. Those fortunately, resolved on their own. Gary wanted to wait and see where the diagnosis would take them instead of worrying about the ‘what ifs’ of life. The Hardest Part of Raising a Child with Down Syndrome Due to her heart conditions, when Zoey was born she was really weak. Sasha said, “We always knew what the heart issues that she was going to have surgery, so while waiting for that, we had to keep a really good eye on her.. I think those early days were the hardest, watching her. She was just really weak.”
For Gary, he said that the hardest part for him has been worrying about what hurdles they have and how they are going to tackle them. Surgery Brought Out Her Personality When Zoey was three months old, she had heart surgery to correct the holes in her heart. Sasha said that after the surgery Zoey did a complete 180. “She had energy, and that’s when I always say that we started to see her spunk.” said Sasha.
Before the surgery, Zoey was weak and would just sit there. She became what Sasha described as “spunky”. Changing the Perspective About People with Down Syndrome The people they interact with have all been surprised with what Zoey is capable of. Both Sasha and Gary have heard several times, “Oh, wow, she can do that?” They have used this as a teaching opportunity to share how capable people with disabilities are.
Gary explained that his co-workers all hear about Zoey’s gymnastics and swim lessons. Something he can tell that “blows their mind”. He has realized how limited their views were before she came into his life. Choosing Down Syndrome for the Second Time Currently Sasha and Gary are in the process of adopting a child from China who has Down syndrome.
Ethan lived for 93 minutes. He is one of the only babies to be born alive with full Trisomy 9. His parents, Kristin and Chris were offered several times to abort Ethan. They decided to carry to term and are happy they chose life and got to meet him. His life has had a profound impact on their family and community. Defying Medical Odds Meeting with a geneticist At their 20-week ultrasound Kristin and Chris were excited to find out the gender of their baby. Looking back on the experience, Kristin realizes how rushed and odd the technician seemed. At the time, she didn’t think too much about it because she was just excited to find out their baby was a boy.
A few days later, they received a call asking them to come meet with a geneticist. Kristin was curious why so she asked, “Is this something everybody does or is this just something that we’ve been chosen to do for some reason?” Unfortunately, they wouldn’t give her any answers over the phone. They were out of town during that phone call and had to make the grueling three hour drive home, worrying the entire way.
“The next morning the doctor sat us down and told us that they noticed a lot of abnormalities with our baby in the ultrasound. One of the things they noticed was that his brain was missing the cerebellar vermis, so the back of his brain just wasn’t formed; it just wasn’t there. They also noticed his heart didn’t look normal.” Kristin said. Not knowing the diagnosis until he was born Even though Kristin and Chris had met with multiple specialists to try and determine what Ethan’s diagnosis was, they were unsure. Specialists speculated that it was some sort of chromosome abnormality. Kristin and Chris were asked several times if they wanted to continue with the pregnancy.
Kristin shared, “They kept asking us if we were sure this is something we were ready for. I think that's a silly question, because I don't think you’re ever ready for that, but we knew that we didn't want to take any chances with him because we knew we wanted him.”
They were offered an amniocentesis but declined due to the increased risk of preterm labor. Kristin figured that they could do the same test after he was born and receive the same results without an increased risk to Ethan. Full Trisomy 9 There are many documented cases of babies being born alive with partial or mosaic Trisomy 9. However, Ethan is one of the only cases who had full Trisomy 9 and was born alive. Kristin and Chris were told that most babies with full Trisomy 9 miscarry early on. Ethan defied medical odds making it to term.
When someone has Trisomy 9, they have three copies of their 9th chromosome. Aside from Trisomy 9, he was also diagnosed in utero with hydrocephalus. Thoughts surrounding a diagnosis Chris shared what he first thought about finding out Ethan was going to be born with some abnormalities. He found that there were many people who shared a similar experience. They were told their baby had abnormalities and when they were born, they were perfectly healthy. Chris was hoping that this was the situation, he wanted the doctors to be wrong.
“I think i was a little more calm than she was. She was crying a lot, and that's fine and natural. It wasn’t until I started reading more about suffering in this life and the things we go through while knowing that it’s for a reason that started me crying as well..it's for a purpose, and there is joy in it. Which sounds crazy, but there can be joy in suffering.” Chris added. Ethan lived for 93 minutes Describing their birth experience as “happening really fast” Ethan was born via an emergency C-section. Not being able to first initially interact with Ethan, Kristin prayed that he wouldn’t die so she could meet him. The doctor who performed the C-section said, “I’m really sorry, but there is nothing that we can do.”
Kristin was filled with fear, thinking Ethan already had passed. In the whirlwind of a delivery she said her brain was foggy trying t...
Tamara and Matthew received an unexpected test result when trying to determine the gender of their baby early in their pregnancy. Their son has a 93% chance of having Down syndrome. In their interview, they speak of their fears and struggles on coming to terms with the results Unexpected News Finding out the gender of their baby When Tamara was 10 weeks pregnant, her doctor offered a NIPT test to determine the gender of their baby. Tamara recalled, “..she kind of glanced over the fact that it was going to test for genetic issues and really highlighted that we could find out the sex of our baby. That was the big part of the test.” However, when Tamara and Matthew received the call they were not prepared for the news.
Matthew said, “The tone of the doctor was very soft, wanting us to be consoled, and she was letting us know the results from the genetics testing.” Unborn baby is high-risk for having Down syndrome The results of their NIPT showed that their baby was high-risk for Down syndrome. Tamara said, “A million things ran through our heads, and it instantly hit us that we both had tears in our eyes when we heard the news. We couldn’t really finish the conversation with the doctor..she told us that the test was 93% accurate, and we heard that our child had Down syndrome.”
She continued saying, “We didn’t hear that he was high-risk; we heard that our child had Down syndrome, and for us, it shattered our world. To this day, I still think it's the worst thing that I've ever been through.” Finding out your child could have Down syndrome is a new experience Matthew helped explain why the results of the test were so shocking. He said, “We haven’t been in the world of Down syndrome, so we are new to that and it’s new to us. It was very scary at the moment. Since then, we have branched out and are more educated, and we have reached out to other organizations like Orange Socks and tried to familiarize ourselves with that type of life and diagnosis.” Is it better to know beforehand or after your child is born? Tamara and Matthew didn’t really have a choice in whether they wanted to know before or after Greyson was born. They both felt like they were uneducated about the purpose behind the NIPT.
Tamara shared, “I think I would prefer to not know period..I don’t know if it would be any better thinking our kid was going to be born like a typical child and then being told that he has Down syndrome after he is born. I don't know how I would feel about that, so we’re prepared right now.”
Matthew agreed with Tamara on being prepared beforehand saying, “The super positive is that we’ve had time to be diving into this community, educating ourselves and following everybody we can on social media, which has been great.” Unsolicited consoling When Tamara went home to have her baby shower, she was met with different opinions about their results from the NIPT. She said, “It’s not so much that people try to give s advice on how to parent a child with Down syndrome or a disability, but more ‘I wouldn’t worry about it; those tests are always wrong’ or ‘We know somebody had that similar thing happen.’ or when people don’t really know your story”
She said later, “I understand that you have fear for you children, and I totally respect that, and I know that it’s well-meaning, but it’s not the same..sometimes it’s hard to just bite my tongue and say ‘Thank you’.” A predetermined decision on abortion Before they received the results of the NIPT, Tamara and Matthew had already decided that if that child had a disability, they would love him, and that they would keep him no matter what.
Tamara shared, “We heard his heartbeat before we took the test, and I would always think about that if we aborted him. We couldn't fathom it. We see how much joy they bring to their families, and they can have completely normal lives. They can be successful and fulfill their dreams just like any other child.
When Spencer was less than 24-hours old, he had surgery to fix an issue with his esophagus. It was the beginning of a medical journey that would eventually lead to the diagnosis of CHARGE syndrome. Now at 17 he is attending high school and taking concurrent enrollment classes at a local college. Proving that you are more than your diagnosis. Diagnosis Doesn’t Define Who He Is Newborn requires surgery A few hours after he was born, it was discovered that Spencer had a tracheoesophageal fistula or TEF. Sariah, his mother explained, “Essentially with the TEF, the esophagus and his trachea are supposed to form one tube that then splits into two, but his didn’t split all the way, so he had a connection between the two tubes.”
Spencer was life-flighted to a different hospital and had surgery to help correct the TEF when he was less than a day old. This was the first of three surgeries he had in a six-week period. Spencer also had a blind pouch. “..so his esophagus grew down midway into his chest, and then turned around and grew into itself, so he had no connection to his stomach at all. That meant that if he took anything orally, which in infancy would all be liquid, it would have gone to his lungs and he would have drowned.” Receiving a diagnosis 11 years later In addition to having to TEF, Spencer is also deaf and has a vision impairment. These are all things that are common for people who have CHARGE syndrome. Although Spencer has never had a genetic test done, Sariah said that he has a clinical diagnosis.
She explained what CHARGE syndrome is, saying, “Each letter in the word CHARGE stands for a different birth defect, so it’s kind of an umbrella term for a bunch of things..a lot of kids with CHARGE syndrome will have a cleft lip or cleft palate. TEF is really common for heart problems, growth issues, hormonal issues, hearing and vision problems..gastrointestinal, endocrine, all of those things.” Challenges in raising a child with CHARGE syndrome For David, Spencer’s dad, he said the challenges in raising Spencer has been communication. Since Spencer is deaf, he uses sign language to communicate. However, this was something that David felt like he didn’t take the time to do.
He also explained that children who have TEF are prone to get things stuck in their throats while they eat. He said, “..sometimes if he ate too quickly, he would get stuff caught in his throat, and if we couldn’t get it out, then we would have to go to the hospital and they would have to go in and scope it out. That was always stressful, just trying to make sure he is eating properly is probably the biggest challenge.”
This is something that has become less of an issue as Spencer has gotten older. Sariah said that it was only an issue until Spencer was about seven or eight years old. Being kind despite how you are treated Both Sariah and David commented about how kind Spencer is to everyone. Sariah shared, “He has this amazing ability to love everyone regardless of how they are, or how terrible they treat him. It doesn’t even phase him. He just loves everybody with this amazing love that is a good example, so that is really great to see.”
David said, “He is just one of the happiest kids you’ll ever meet despite all these things. You look at his life, and you think, ‘Wow, that’s gotta really suck.’ and he is just the happiest kid you know.” What to do when your child has been diagnosed with CHARGE syndrome “Start learning sign language right now would be my first thing. The second thing would be that there is a CHARGE syndrome website, and I would say to go there and talk to the specialists..they have tons of knowledge, and they will coordinate with your doctors.” Sariah advised.
David’s advice echoed Sariah’s, he added, “..it’s also important to find other families who have children with CHARGE to create that social support. It doesn’t necessarily have to be other families with just CHARGE; you can get involved with other families who...
Katie and Nathan’s daughter, Claire, was diagnosed with a rare fatal condition called Rhizomelic chondrodysplasia punctata or RCDP. Even though Claire’s life expectancy is unknown, Katie and Nathan love spending time with her and have found joy with her diagnosis. Loving Your Child No Matter What Diagnosis is Rare and Fatal “At my 20-week ultrasound, we found out Claire was a girl, and then they said that her arms were measuring a little shorter and suggested we come in for a follow-up appointment four weeks later.” Katie said. Not thinking it was a big deal, Kate and Nathan were blindsided by what they were told at the follow-up appointment.
Their doctor told them, “I’m really sorry, but she definitely has some form of skeletal dysplasia which is dwarfism.” The doctor then proceeded to give them a print out about it and basically sent them on their way. “Everything is going to be different” After receiving the diagnosis, Nathan described how he felt, saying, “It was a pretty big blow. It was more just shock there for a little while, and then a lot of tears, then kind of being together just trying to understand the paradigm shift of a sudden knowing that everything was going to be different.”
Having similar thoughts to Nathan, Katie explained, “..this is not what I had planned, this is not what I expected. ‘What did I do?’ goes through your mind..It’s totally irrational, but you go through those thoughts..It's just really scary because we’ve never gone through anything like that before.” Rhizomelic chondrodysplasia punctata Katie and Nathan received little to no information about their daughters' condition. Katie felt like they were left to do the research on their own. After turning to the internet, Katie said, “Then, of course, you spend hours and hours looking up things online, and you're just kind of lost in this big haze; you don't know what’s going on.”
RCDP is a condition that affects typical development of different parts of the body. The major symptoms of the disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Something that is common with this disorder is people often form joint deformities that make the joints stiff and painful.
Nathan shared a sobering statement, “40% of the children with her condition don’t make it to their first year; very few make it to the age of 10.” Katie added, “A child who lived 5 years in considered a long-term survivor.” A typical day for someone with RCDP Due to her medically complex condition, Katie, Claire, and Nathan are home-bound. Katie shared that most of her day includes feeding, suctioning, physical therapy, laundry, paying bills, cooking and cleaning. “I feel like I'm cleaning a lot because with a medically fragile child, you just have to make sure our house is clean because you don't want to bring in any germs or anything.” said Katie.
Even though discussing her day made Katie realize how repetitive it can be, she said, “I love being with her.” She doesn’t mind taking care of Claire and she “would take care of her 100 more years.” Joys despite a fatal diagnosis When asked to share his joys Nathan said, “That’s way easy. It's just holding her and trying to get her to smile or laugh. In the last few months, she is much more quick to give a smile than she was before, so playing with her is definitely the best.”
Knowing their days are numbered, Katie said, “..just seeing the small things she does is monumental and brings you so much happiness.” Realizing family is all that matters When Claire was first born, Katie’s sister shared a thought with her. She said that seeing Claire made her realize how much things don’t matter..“just that Instagram doesn’t matter, Facebook doesn’t matter, and it doesn’t matter that my house isn’t perfectly clean. She just realized what actually makes you happy in life.” Katie shared. Advice to parents with a fatal diagnosis
After unsuccessfully trying for five years to get pregnant, Terah and Brian turned to in vitro fertilization. During their second round, they found out Terah was pregnant. An hour after Indy was born, she was diagnosed with Down syndrome. They were devastated. They shared how they came to terms with her diagnoses and how she had impacted their life for good. From Devastation to Bliss Declining genetic screening Terah and Brian were unable to get pregnant for five years. They decided to try in vitro fertilization or IVF. Terah said, “We did not do any genetic screening. We thought about it, but we figured that we had done IVF, and that’s a pretty fail-proof method.”
Even if they had done testing, Terah said that it wouldn’t have affected their choice to continue with the pregnancy. An hour after Indy was born, she received the diagnosis of Down syndrome. Thoughts surrounding Down syndrome diagnosis When Brian first found out that Indy had Down syndrome, he said the unknown was the hardest part. He hadn’t ever really interacted with someone with Down syndrome or really knew anyone that had a child with Down syndrome. He was also unsure of what to expect and how to proceed. Overall though, he was able to accept it after the first night. He said, “Look, if anybody can do this, it’s us, and we can and we will, and I had that determination off the bat.”
Terah was very candid about her reaction. She said, “I had a really hard time. I kind of felt cheated little bit, like we had waited so long for this baby, and we worked so hard to get this baby, and my thought was that we got a broken baby. I feel bad to even say that now because that is definitely not the case, but those were the thoughts that I had.” Challenges in raising a child with Down syndrome Both Terah and Brian agreed that Indy hasn’t been any harder to raise than any other child. For Terah the most challenging thing has been the emotional acceptance. She said, “The hardest part for me was my emotional acceptance of just having a child with a disability, with Down syndrome, not because of the efforts I’ve had to put forth to take care of her.”
Brian said that for him there hasn’t been too many things that have been challenging. He recognizes that there may be challenges ahead, but so far the 10-months with Indy have “just been fun and been a good ride.” Joys in proving people wrong Many people have misconceived perceptions about what people with Down syndrome are capable of. Brian said, “For me, it has been nice when people have said that when you can’t do things or that she won’t do things and then she does them..it’s like success, proving them wrong. That to me is joy, saying look, we are doing this. That is my favorite part of the whole process.”
Terah added her joys, saying, “Like Brian said, every milestone she hits, every achievement is just so fulfilling and rewarding because she is doing it and we are doing it. It’s amazing and has been just a really great journey.” 10-month old has huge impact on family Indy has done more healing for both of their families than anyone could have imagined. Terah said, “I would just say that in the short 10 months of her life, it has been incredible to see what’s happened with our families..From the very beginning when she was just a week old, the bonds that already started to form in our families and the issues that were present on both sides of our families have seemed to dissolve so that they don’t seem present anymore.”
Brian feels like Indy has changed people in his family. He said, “They think differently, and they act differently. I think Indy wants our family to be better people, and I think she allows them to have a higher vision of what we are all doing in life.” Life will change for the better When Terah first learned about Indy’s diagnosis, she thought “this is the worst thing that has ever happened to me”. However, she thinks, “Now I truly and honestly feel like this is the best thing that h...
Erika was given a very grim diagnosis when she was six months pregnant. Her daughter, Erilyn was diagnosed with microcephaly. She was very pressured to abort Erilyn. Now eight years later, Erika is grateful she chose life and can see that Erilyn is a blessing and brings joy to everyone she meets. Nothing Like the Doctors Predicted Pressured to abort at six months pregnant During a routine ultrasound when she was six months pregnant. Erika was told that her baby’s head and brain were measuring smaller than normal. She recalls the doctor telling her that her baby had something called microcephaly.
The doctor then told her if she wanted an abortion, that could happen the next day in San Antonio. Erika and her mother decided to go to San Antonio and see what that doctor had to say. She recalled, “..sure enough, they did another sonogram and explained about microcephaly..that it was going to cause her to be mentally delayed. They thought that she would be pretty much like a vegetable if she even lived past birth.”
They also told Erika that she would never walk, talk or do anything on her own. To even further paint a horrible picture, they showed Erika’s mom a photo of a baby with deformities on the face. The doctor told her that if she continued the pregnancy that the baby would look like that. What if? Erika felt very pressured to abort Erilyn. She said, “I kept saying that I’m already this far along, and I can feel her moving every single day..There is always that ‘what if?’ I couldn’t imagine getting rid of her”
Knowing that there was a chance the doctors were wrong, Erika wanted to give her baby a change to show everyone what she is capable of. Everything turned out okay The day of delivery for Erika was “nerve-wracking”. During her C-section, Erika said, “I just remember praying the whole entire time. Just praying and praying and hoping that everything would come out okay.”
Erilyn was born with a lot of hair. “I saw her face and saw that everything was perfect; she looked perfect and she had the cutest little nose, and everything was normal.” Erika said. Nothing like the doctors had predicted. Challenges in raising a child with special needs Microcephaly is a condition where the brain and head are much smaller than expected. This results in the brain not being fully developed. Each baby is different, but some babies can have seizures, developmental delay, intellectual disability, feeding problems, hearing loss, vision problems, and problems with movement and balance.
For Erika, some of the challenges have been the amount of care that Erilyn requires. She said, “I still pretty much have to do everything for her. I still have to bathe her, I still have to feed her and change her..I feel like every other day I say, ‘I’m a hot mess’ like my emotions are everywhere all the time.” Despite the challenges there are many joys When asked what her joys were, Erika said, “Just everything; she is so amazing everyday. I could be having the hardest day and be in the worst mood, and she will come up to me and give me a kiss and just smile and look at me in the eyes..she’s such a joy to have in our lives.”
Everyone who comes into contact with Erilyn tells Erika that she is the sweetest thing. Erika feels that anyone who comes in contact with her is touched by her. Making you want to be a better person Erika’s family has been blessed by having her in their lives. Erika said, “I feel like we are all motivated by Erilyn. She makes us all want to be the best that we can be. Just to appreciate everything and not to take anything for granted.”
Even though there are some challenges that have come up raising Erilyn, Erika said, “This is our life, and we love it, and we wouldn’t change it for anything.”
Ellie is a delightful three year old with Aicardi and Turner’s syndrome. Her parents, Tiffany and Nathan talk about what a joy Ellie is to their family and how she has impacted their lives for good. More Than a Diagnosis 20-Week Ultrasound The 20-week ultrasound is usually when families discover abnormalities with their unborn babies. Tiffany and Nathan were no exception. Tiffany recalls, “For her 20-week ultrasound, we went in typically excited to find out the gender. I didn’t think anything crazy. They said she had some abnormalities with her stomach..They sent me to Perinatology of Maternal Fetal Medicine at our local hospital.”
Each visit, doctors would discover more abnormalities with Ellie. During their fifth ultrasound Nathan recalls what the perinatologist said, “We are noticing some different things in her, in the formation of her brain.” Finding Out It wasn’t until Tiffany was in labor and close to delivering they received a definitive diagnosis. They have never heard of Aicardi syndrome before. They turned to family members who are in the medical field. However, nobody knew what it was either.
After a traumatic labor, Tiffany and Nathan only had one concern; getting baby Ellie here safely regardless of her diagnosis. Three days after she was born, they received another diagnosis. Turner Syndrome “Turner syndrome deals with the sex chromosomes, so you have xx or xy and they said she’s x...they did even further testing, and it came back that she was very mosaic, like 1 in 200 of chromosomes have the xx where as everything else is x.”
This means that not every chromosome in Ellie is affected by Turner syndrome. “She Proved Them Wrong” Tiffany and Nathan wanted to give Ellie a chance to learn and eat on her own instead of relying on the assistance of a G-tube. Tiffany said this, “..we just kept feeling like we need to give her a chance to try and eat on her own. They didn’t think she could; they didn’t think she had the mental capacity, I guess. She proved them wrong, and ate like a champ.” The Joys of Having a Child with Special Needs When asked what the joys were of having Ellie in their lives, Nathan said this, “When you walk into the room, it seems like she lights up. Like she would rather be with you than with a toy...she wants to be in your lap or she wants to have your attention.”
Tiffany added, “She knows when people need love. She’s got a lot of love to give. About a year ago, it would take us almost an entire hour to walk down the hallway of our church because she wanted to hug everybody, even people she’d never met.” Center of Attention When their family visits others, Ellie is the center of attention. Bringing their immediate and extended family closer together. Tiffany said, “It has brought us a little closer, and everyone wants to be right by her...she’s got a fan base for sure; people just want to be around her.
Ellie is so loved in fact, it’s making it hard for her to reach her milestones! Nathan added, “We are trying to get her walking, and the problem is that I’m always trying to get people to put her down..which won’t happen if we are always carrying her around everywhere.” “Don’t Lose Hope” Finding out your child has been diagnosed with a disability can be difficult. Nathan said, “Don’t google it! Something when you initially start searching for answers, it seems like all you hear are the scary things and the worrisome things..it is good to know what those challenges are, but just don't lose hope, because as soon as you can get past that and realise that you know there are some challenges, there are so many more blessings that come with that.”
He continued by saying, “I would say just hold on because you just gotta get through the hard part. Once you get them here, one you can hold them and once you can see their face, all of that fear goes away.
Tiffany also had this to say, “That initial part is so hard, and it's okay to be sad for a minute,
As young, college students, having a child with a disability wasn’t on their radar. Alyssa and Ben were shocked when they learned at their 23-week anatomy scan that their son, Will, had some brain abnormalities. They were heavily encouraged to abort their son. He has defied doctor’s limited predictions and is a joy to have in their lives. Every Baby Deserves a Chance Finding out your son is going to be different Alyssa recalled the moment they first found out that their son, Will, was going to be different than what they expected. She said, “During the ultrasound, our doctor saw a cyst and said what he described as ‘a horseshoe.’.the head measured smaller than it was supposed to, .so he sent us up to Madison Memorial Hospital that has more updated equipment where they could have a radiologist look at it.”
The next day their doctor received the results and called Alyssa and Ben. It was what he had previously thought, there was a cyst and his head was measuring smaller than it should have. He recommended a specialist to look at it to make sure. The specialist was able to see them a few days later and gave them a grim diagnosis.
He told Alyssa and Ben that their baby had an encephalocele, the brain was being pushed into a sack. He said that their child had less than one percent change of living past 30 weeks pregnancy. They asked, “What about if the baby lives?” To which he replied, “I guess there is a chance, like a tiny, tiny chance, and if the baby lives, he’ll have absolutely no quality of life. He won’t most, he won't walk, he may live a couple of hours after birth, and if he lives more than that, he won’t do anything. He’ll be a vegetable.” The only thing he could offer them was an abortion. It took awhile for reality to set in After they received this news, Ben said, “I was definitely very, very scared, and I don’t think it really hit us. It took a while for it really to sink in that there wasn’t going to be a possibility for Will to survive.”
A few weeks after they met with the specialist is when Ben said they really felt the full facts of there being little to no chance of Will surviving. He said, “It was kind of like a slap in the face..so it was definitely very scary and almost not realistic, like not real.” Choosing full intervention after birth After Alyssa hit 31 and 32 weeks, they realized that Will was doing great. They planned for his birth with a scheduled C-section. The doctor told them that she didn’t expect Will to live. Alyssa and Ben said that they wanted full intervention so they could have a little time with him. Their doctor agreed.
With the big machines booted up and the NICU teams standing by, they started her C-section. Alyssa said, “..the doctor who said that he would come out blue and not breathing, took him out and suctioned his mouth, and then he opened his mouth, looked at her and screamed and started crying right at her.” Having one plan after you give birth They had been told for most of their pregnancy that Will would die either before, during, or shortly after birth. Alyssa and Ben shared that their only plan after he was born was to have a funeral. They had picked out the cemetery plots, and the casket. “That’s what our plan was; we didn’t really plan for when he would live because no one gave us hope.”
They had to quickly drop their original plan and come up with a new one. Will shocked all of the doctors with how vigorous and how well he thrived. Cutis aplasia congenita After he was born, Will received his official diagnosis of cutis aplasia congenita with a developmental delay. Typically when someone has cutis aplasia they have a quarter sized hole of missing skin in the back of their head. Sometimes the bone is there or not there. Will is missing the entire back of his head.
Typically, they can let bone and skin grow in, however, Will’s is so significant, Alyssa said, “..It gets really difficult as to ‘how so you cover that with no bone to cover?
After struggling to get pregnant, Traci and Mike were very excited when they found out they were expecting twin boys. During one of their ultrasound they found some abnormalities in one of the twin’s brains. They also found a cleft palate and cleft lip. Unsure how the other twin was affected, they were encouraged to abort both babies. Five years later they share the struggles and joys of raising a child with semilobar holoprosencephaly. Trials That Bring Happiness One of the Twins has Abnormalities Traci shared, “When we got pregnant, we found out we were going to have twins, so naturally we were being watched a little bit more closely..at 14 weeks, we found out what we were having, and at 16 weeks, we went back just because they wanted us to come back every couple of weeks.”
It was during that ultrasound that they discovered that one of the twins had some abnormalities. The sonographer left the room to go grab the doctor. Traci said, “I looked at Mike and just started crying because obviously something was wrong. It was a while before the doctor came in to talk to us, and explained that they thought he had agenesis of the corpus callosum..and they also saw the cleft palate and the cleft lip.” Not Being Able to Pronounce Your Son's Diagnosis Their doctor referred them to a specialist who confirmed that it might be agenesis of the corpus callosum. Traci then recalled him talking about a selective birth and other abortion options. She thought, “Why are you even talking about these things..I have another baby in there, and as far as we know, he is completely healthy, so why are we even talking about this?”
After declining an abortion, Traci said that they started talking about different disorders that their baby could have. Traci said, “Then that’s when they came in and shared this huge word with us, and started talking about it, and all I remember really is asking, ‘Will someone write down this word? I have no idea what you even said to me, and if I can’t even pronounce what my child has, how am I going to be able to comprehend it all?’”
They were offered to do genetic testing but declined. They felt that it might increase risk to both babies' lives. The results of the testing would only give them knowledge, not change their decision or situation. They decided to do the testing after he was born. Semilobar Holoprosencephaly When someone has semilobar holoprosencephaly, their brain’s hemispheres are somewhat divided, leaving areas where they are fused together. Symptoms of having semilobar holoprosencephaly have a flattened bridge and tip of the nose, one nostril, cleft lip, bilateral cleft lip, and a cleft palate.
For Liam, having semilobar holoprosencephaly, meant that he was born with a severe bilateral cleft lip, developmental and intellectual delays. Traci said, “Liam doesn’t take any food by mouth, so he has a feeding pump..he’s non-verbal..it’s like caring for a baby, honestly. Honestly, he’s a five-year old kind of baby, and in a sense, caring for a baby is similar to caring for him.” The First Years were the Hardest The amount of care that Liam requires can be exhausting. However, Liam is a twin. Traci and Mike were exhausted from having twins, especially Liam. Mike said, “When he was young, he would not sleep unless he was being held, and not only held, but bounced. My wife and I would take shifts..so that was a big challenge.”
For Traci, she said she finds challenges in knowing what Liam wants. Being non-verbal, they feel like they are playing a guessing game in knowing how to help Liam. “Is he hungry? Does he just want to be held? Does he want to be moved? Does he want to play? Is he bored or is he over-stimulated?” These are some of the questions Traci and Mike find themselves asking. Impact Liam has had on Their Family Traci said, “People are just drawn to him..Mike’s mom gets really stressed out, and when she needs to have a moment to relax and just needs to have some peace,
Sarah learned that one of the identical twins she was carrying had hydrocephalus during a routine ultrasound. After Isabella was born, it was discovered that she had several other issues. Isabella has endured many surgeries and will have several more. Despite that, she brings a calming presence to her home. The Little Girl with Something Special One of the twins has hydrocephalus Sarah explained the first time she learned that one of her identical twin girls was going to be born different. She said, “We found out that she was starting to develop the hydrocephalus around 16 weeks, and from there, we would get a scan about every two weeks..and they knew she definitely had it.”
During these scans the doctor would measure the ventricles inside her brain. This is how they were able to determine that she would be born with hydrocephalus. Termination was thankfully not an option The doctor told Sarah that if she were having just one baby, she would have recommended termination. However, Sarah would not have chosen termination regardless if Isabella had been a singleton pregnancy.
Sarah said, “From then on, no one really pushed termination as much because we were having identical twins. I was like, ‘Well, one’s doing good, and we already know that the other one has this. So let’s just continue on and see at birth what happens.’” Challenges raising a child with hydrocephalus As soon as Isabella was born, doctors discovered that she has some other physical abnormalities. Sarah said, “She was born with a perforated anus, so she doesn’t have an anus, and she also has a persistent cloaca where her vagina and urethra are connected inside. So she only has one exit, and that is where she urinates.”
Due to these other physical abnormalities, Isabella has had several surgeries to correct them. Her first surgery was to place an ostomy bag, this is a bag that collects stool on the outside of the body. Learning how to properly place the bag and maintain her skin around the ostomy bag has been a learning curve.
Another surgery she had when she was only a few days old was brain surgery. Sarah recalls, “The neurosurgeon made a new path, a new hold for it (spinal fluid) to flow and regulate..if that hole he made closes up, she will have to go in and get a shunt.”
When Isabella is around six months old, they are planning a reconstructive surgery on her anus, vagina and urethra. This will eliminate the need for an ostomy bag and correct the place where she urinates from. Genetic testing reveals syndrome In addition to hydrocephalus and her physical abnormalities Isabella was diagnosed with Charcot-Marie-Tooth syndrome. Sarah explained it as, “nothing to do with her teeth..it is a neurological disorder where her lower limb muscles, basically from her knee down, will deteriorate over time, and she will become weaker in her hands as well.”
How much her muscles deteriorate is something they have to wait and see. Sarah said that it can affect her mildly or greatly. They don’t predict she will need a wheelchair, but she may need leg braces as she gets older.
Isabella also has a microduplication on chromosome 16 short arm which isn’t associated with a syndrome or disorder. It is linked to learning disorders, speech delay, ADHD, autism and schizophrenia. Something else they have to wait and see how she is affected. Calm and peaceful is who she is “She hardly cries, and she’s the sweetest baby ever..There’s something special about her. We can’t put our finger on it. My mother-in-law, my mom, my husband and I just see this peaceful sweetest baby we’ve ever seen..Isabella just had this aura about her where she’s just just at peace with life.” Sarah said.
In comparison, Ariella, Isabella’s twin, Sarah said, “..her sister’s spunky and more on the fussier side.” Her five-year-old son once told Sarah, “Mom you drank too much water, that’s why she has too much water in her head.” Advice to share “First,
Jim is 51 years old and has Down syndrome. He lives with his mom Shirlene who at the time of his diagnosis had never met anyone with Down syndrome. At first, she was devastated. She now knows how grateful she is that Jim came into her life. Loving Your Child With Down Syndrome Finding out a few days later Shirlene and her husband had never met anyone with Down syndrome. Shirlene recalls, “Well I was totally ignorant in the first place. I didn’t know what the doctor was talking about. I had never seen it, never been around anyone who had it, and I was totally devastated.”
The doctors had told her husband about Jim’s diagnosis but didn’t want Shirlene to now until they had a few things taken care of. She said, “He had a worse time than I did because he knew two or three days before I did.” Treating a child with Down syndrome like anyone else Shirlene’s doctors advised her to, “Take him home, wrap him up in a blanket, put him in the middle of the floor and let your kids play with him, roll him around or do whatever they want. Treat him like any other baby in your family.”
This piece of advice was not typical for the time era. Many parents of Shirlene’s generation were encouraged to place their children with disabilities in an institution to help alleviate the ‘burden’ on their family. Since placing a child in an institution was the norm, Shirlene and her husband questioned, “Is this something we should consider?” to which the doctor replied, “No! You should take this baby home, and you take care of him.” Nothing wrong with having a child with Down syndrome Emotionally it was hard on Shirlene to bring Jim home. She said, “You can’t help but compare him to other children as they’re growing up, see what they’re doing and what he isn’t doing yet. Just to know that you have a very unique handicapped child is very difficult. It was for me anyway..so it was extremely challenging and difficult for us to handle.”
Shirlene shared a beautiful story that helped her in her journey to acceptance. When her parents came to visit them shortly after they brought Jim home, her father was holding them. “My husband Keith and I said that there was something we need to tell you about Jim, and we told them about his condition, and my father just took hold of his hand and he said, ‘There's nothing wrong with this boy. He’s going to be absolutely okay.’” Parent were the ones hesitant about diagnosis In remembering the joys Shirlene has had over the years she said, “I think the joy is that people have accepted him. Society is so open nowadays to these kinds of things, and they just accept him..They just think he’s a wonderful person.”
She then said, “It was my husband and I that were ignorant of the situation and what it would be. We were the most inhibitive of anybody, and it took us longer to accept and overcome than about anybody I know.” Helping just one family Shirlene said that if her interview helped even one family she would be ‘thrilled’. She said, “If someone would see this who was like me, raised in such a protected environment that you didn’t know of any handicapped people in your community, I say just take them home and love them.”
She also advised to integrate them fully into your family and said, “They don’t need to be put down or segregated or treated differently. They just need to be treated like a prominent member of your family.” Talking with Jim During the interview Gerald had an opportunity to speak with Jim and ask him a little bit about his life. Jim shared several things he does and likes. Jim works at a grocery store bagging the groceries and stocking the shelves. He also works as a temple worker for his church.
Something Jim really enjoys is basketball. He was able to participate in the Special Olympics in Park City, Utah. He won a gold medal in cross-country skiing. Jim shared how happy this made his family and him. He said, “My dad is happy.” to which Shirlene added, “He was very happy.
Krystal and Dusty were scared and hurt when they first learned that their daughter, Amnesty, had spina bifida and a heart defect. They were repeatedly encouraged to abort Amnesty and are grateful everyday they chose life. She is a great joy to their family and shares her story to help others choose life as well. Using Daughters Diagnosis to Inspire Others Being pressured to abort your baby Early on in their pregnancy Krystal and Dusty were told that their daughter, Amnesty’s, spine hadn't formed properly. This meant that Amnesty would be born with spina bifida. “They told us that her spine didn’t form properly..and it didn’t look like she would have much function with her legs. There were maybe some other issues involving her brain being squeezed by excess fluid, possibly causing brain damage, as well as some bladder issues which would lead to a lack of quality of life.”
During the following ultrasounds they discovered that Amnesty also had a heart defect. This led to their doctor to advise them to ‘explore their options’. Something that Krystal felt like that statement meant getting an abortion. Other doctors flat out told them to consider an abortion since they were early on in the pregnancy. Dusty said, “I initially remember that they pushed taking the easy way out rather than going through with what might be a long-term issue with our daughter and her complications.” Initial reaction to receiving diagnosis For both Krystal and Dusty, the news that Amnesty had spina bifida was hard to process. Krystal said the moment was ‘surreal’. She called her sister and told her that her baby was broken. She said, “I felt hopeless. I felt like a victim. I felt like in the moment, it just seemed impossible.” Krystal always wanted to become a mom, this was not the outcome she ever expected.
Dusty said, “At first it was very, very terrifying to get that initial diagnosis and hear all the negatives..In my memory of it, there was a lot of worry, a lot of fear instilled in us and not a lot of hope for what might be.” Miracles still happen When Amnesty was born, to everyone’s surprise, the major heart defect was gone. Dusty said, “..she had all these heart issues which became the main issues even above her spina bifida. The doctors monitored that weekly up until the day she was born. Then, the day she was born, her heart was completely healed.”
He continued, “Her heart was perfectly fine, and that testimony of healing of her heart has given people hope that there are miracles that still happen today..just because a doctor tells you one thing is going to be the way that it is, it doesn’t always turn out that way.” Fear of losing her is the hardest part Amnesty is what you would describe as any two-year old sassy girl. Krystal said that what is sometimes challenging in parenting her, has nothing to do with her diagnosis. Amnesty is two and acts like a two year old.
What Krystal considers to be the most challenging thing, the fear of losing her. Amnesty had a shunt placed to help drain some of the fluid from her brain. Krystal said, “..anytime she has a fussy outbreak or throws up or something, the first thought is always, ‘Oh my gosh, maybe it's her shunt malfunctioning.’ That’s probably been the hardest thing..I’m always scared that i]I’m going to wake up and she hadn’t made it through the night. Just losing her, the fear of losing her. I love her so much.”
For Dusty, watching his daughter go through surgeries has been hard. He said, “Well, initially when she was born, she had to have surgery to close a hold in her back and put her spine back in, and then days later another surgery to put in her shunt..we couldn’t really touch her or hold her because she was so fragile..initially her surgeries were the scariest part.” Making you a better parent Despite some of the challenging times, Amnesty has brought endless amounts of joy to their family. Dusty said, “There are so many joys,
Miriellys and Alex have two children. Their youngest, Aerilyn, was diagnosed with Trisomy 13 or Patau syndrome in utero. They were encouraged to terminate their pregnancy and were given a grim prognosis. They chose not to listen to their doctor and to give Aerilyn a fighting chance. Now, 3 years later, they wouldn’t change anything. Aerilyn is a joy and a blessing to their lives. Trusting in Your Baby Finding Out More Than the Gender Going into her anatomy scan, Miriellys was convinced her baby was going to be a boy. She said, “I knew. It’s going to be a boy, it’s going to be a boy.” To her surprise, they found out their baby was a girl! However, that wasn’t the only shocking news that day.
After the sonographer told them the gender, she left the room. Miriellys and Alex were thrilled they were having a girl. Quickly that feeling left the room as the doctor entered. Miriellys recalled, “The first thing she asked me was, ‘Do you know what a cleft lip and cleft palate is?’ I started getting very emotional, and I started crying.”
Her doctor wanted her to have an amniocentesis done to determine what was the cause of the cleft lip and palate. Results of Amniocentesis Bring Out Range of Emotions Alex and Miriellys were told that their daughter had Trisomy 13. Something that ran in Miriellys family. She said, “It was just really intense to get a diagnosis that I already knew some of the problems of in my own family..we have children in our family who have passed away from that diagnosis, and then we have children who are currently living, so we weren’t sure where we were going with our own.”
At first, Alex didn’t really understand what Trisomy 13 entailed. He thought it was just a cleft palate and lip and thought it was more a cosmetic issue that could be fixed. When he found out, he said, “I felt everything all at one shot. I felt pain, fear, and anger, and I was afraid of what was to come. I was trying to find something to be angry at, like to put blame on..but then I realized that was just a waste of energy.”
Understanding how he was feeling, Miriellys said, “I was up more than the sadness; it was kind of like anger. ‘What did I do?’..you try and find an answer to it where there is no answer. That is just the way it is. There’s no control over life..it takes you into all different types of directions, and you have to just go with the flow and see what it leads up to.” Trisomy 13 This is also known as Patau syndrome. It is a chromosomal condition that is associated with severe intellectual disability and physical abnormalities. Most people who have Trisomy 13 have heart defects, brain or spinal cord abnormalities, small poorly developed eyes, extra fingers or toes, cleft palate, cleft lip and weak muscle tone.
Most infants with Trisomy 14 die within their first days or weeks of life. Only five to 10 percent live past their first year. Painting a Grim Prognosis Miriellys and Alex were met with a lot of resistance. Miriellys said, “I remember in the beginning, it seemed like, ‘Well, this is your diagnosis and your child’s quality of life is not going to be good. Her life expectancy is not going to be good'. So you have to kind of make a decision.”
Miriellys felt conflicted. They would have an ultrasound where they were told their baby’s heartbeat was strong, and then another doctor would talk to them about aborting that baby. “No one should be put up against a wall to have to make a decision over somebody else’s life. I think that’s when I hit rock bottom, when we were faced with what we were going to do.” said Miriellys. Adjusting to a New Normal After their first child was born, Alex said, “After Elias, everything was so easy, and being a dad was pretty easy.” He learned that being a dad to Aerilyn was going to be an adjustment. He said, “Being a dad for her is different..with Elias, I can just bring him out, play some kind of ball game or watch some cartoons..With her, you have to figure it out.
It took almost three years to get an official diagnosis for their son, Smith. Beth and Bryce shared their journey to getting a diagnosis of Angelman syndrome and how it has impacted their family. Making Your Heart Grow Long Journey Towards a Diagnosis Unlike several disorders that are noticeable at birth, Beth and Bryce thought their son, Smith, was typical. Beth recalled that she noticed he wasn’t looking at her. She said, “At around four to six weeks, he still wasn’t looking at me. We thought maybe it was his eyes, so we got his eyes checked out, and they were fine.”
As time went on, Smith started missing developmental milestones. He wasn’t crawling, using his hands, talking, and still wasn’t looking at things. This started Beth and Bryce on a series of appointments with several specialists to try and determine why Smith was falling behind. Relief From Receiving a Diagnosis After two and a half years, they finally received the diagnosis of Angelman syndrome. Bryce said, “We were so elated..finally a microarray analysis of his blood was able to determine what he had..When we found out it was Angelman, we were really excited.”
One of the specialists they saw in their journey for a diagnosis suspected that Smith had muscular dystrophy. A condition that can greatly affect how long a person lives. They were relieved that Smith had Angelman syndrome. It meant that he would be able to live a longer life, something his parents were extremely grateful for. What is Angelman Syndrome? Angelman syndrome is a genetic disorder that mainly affects the nervous system. The most common features of the condition are: developmental delay, intellectual disability, severe speech impairment, and problems with movement and balance.
True to the name of the disorder, people with Angelman syndrome are happy and have an excitable demeanor who often smile, and laugh. Smith is unable to walk, talk, or feed himself. He can roll around, and he can sit up independently. Losing the Child You Thought You Were Going to Have Both Bryce and Beth mourned the loss of the life of the child they thought they were going to have. Beth said, “The hardest thing was kind of just this loss of a dream of having this child who’s going to be walking and talking..it was hard for me to go to playgroups with other moms when they all had these kids who were whining to them and wanting things..I kind of felt a little left out of the normal mom raising.”
Growing up, Bryce described memories he made with his dad. “I’m a big athlete, and my dad taught me to throw a baseball, and I played all of these sports, and we’d go hiking, fishing, whatever. Then the realization hits that this is going to be your whole life..and you don’t get the interaction, you don’t even get the ‘I love you dad.’ that for me, was the hardest.” Joy Comes in Different Ways Changing the way they thought about their life helped Beth and Bryce find joy in raising Smith. Beth at first would hear people who have children with disabilities say, “I wouldn’t change him for anything.” She found herself feeling selfish and would think, “I would! If I had the power or ability to change him, I would.”
Now, years later, she has realized as she has gotten to know Smith on a different level, she wouldn’t change who he is. She said, “..there’s a different relationship you have with someone that can’t talk..what he’s brought to us, and the understanding and enlightenment I’ve had from having a special needs child, is a way bigger education that I could have hope for or dreamed of. I’m so grateful for it..There’s kind of an honor in taking care of someone who can’t take care of themselves.”
Bryce changed his thinking about his interactions with Smith. While he used to dream about teaching him sports and how to read or write he said, “Then it turned into well, if he eats the food today and if we can actually get him to go to the bathroom, that is exciting. When he has a good bowel movement,
Christine knew there was something different about her oldest daughter Skylynn. They first hoped she had a sensory processing disorder. However, at the age of two Skylynn was diagnosed with autism. Christine has spent every day since her diagnosis advocating for her daughter and others like her. Autism Hero Discovering Your Child has Autism Christine was constantly told “You are a first time mom”, “She's not behind”, “You don’t know what you are talking about” However, Christine knew there was something different about her oldest daughter Skylynn. She said, “She always showed symptoms of something being different. She would cry when I would sing, and she missed pointing and clapping..it was when she was just under two that we finally had a developmental pediatrician look at her and say ‘Yes, she has autism.’
She continued saying, “..it’s pretty scary and devastating when you find out your kid has autism because you just don't know what the future holds..the minute we were told that diagnosis, we don't know how our life is going to pan out; we don't know what changes there are going to be..you are just thrown into this situation where you aren't really sure what is happening.” Taking Down Insurance Companies While Christine was processing Skylynn’s recent diagnosis, she received a coverage denial letter from her insurance company. She recalled, “I called the insurance company and said ‘Why? Why did you deny this? I have insurance. Insurance should cover this kind of thing. That's why I pay for it.’..I was reeling from the fact that she was diagnosed at all, and then my insurance company says, ‘There is nothing we can do for her.’”
After hearing that, Christine started researching different therapy options and what the out of pocket cost would be. She discovered that ABA therapy is shown to be most effective. However, it can cost up to $80 thousand a year. Even worse, the state of Utah didn’t cover any of it.
It was then Christine got involved in both the national and state organization to fight for an insurance reform. They were attempting to pass legislation to mandate insurance companies to pay for autism therapy. All Their Hard Work Paid Off After three years of round the clock work, the legislation passed! Beginning January 1, 2016 insurance companies were required to cover autism therapies
In 2015 Christine had a unique opportunity to work on the Salt Lake City Mayor’s campaign. She was appointed as a coordinator for disability rights. She said, “My entire job is working on disability rights for the city..all of it is policy, whether it's housing and transportation or police relations, it's all very high-level policies at a city level.”
She continued saying, “Because of her and my passion for her and my love of her and advocating for her, I've gotten to the place where I am, where I have my dream job, and I get to advocate for people who have access needs with disabilities at both the state and local city level. Skylynn Speaking more at a personal level Christine said this about her daughter, Christine said, “She’s incredible. She's the cutest, sweetest, funniest, little mischievous kid. She’s so cuddly..and she loves crafts. She’ll do anything for craft paper to cut up for crafts.”
She continued saying, “She's always the teacher’s favorite because she is adorable and mischievous ..she sings everywhere. No one knows what the lyrics are..she just sings gibberish all the time and it's sweet.”
It hasn’t always been easy with Skylynn. Christine said, “It's been a ride with her. She's far better than she was. At first, behaviors were really tough. The behaviors are a lot better now, but I won't say they are not there.” “The Number One Thing People Need to Do” Without hesitation, Christine shared her advice for parents. She shared, “I felt at first I was isolated, I didn't know what was happening..connecting with the community is no doubt the number one thing that people need to do.”
When Laura wasn’t meeting developmental milestones, Keven and Phyllis brought her their pediatrician. They were shocked to learn that she had polymicrogyria. Over the years they realized what an absolute joy to Laura was to have in their family. Losing a Child Twice Getting Diagnosed with Polymicrogyria Phyllis, Laura’s mother, was suspicious of something being wrong with her. Phyllis recalled, “When she was about three of four months old, we went to the doctor because she wasn’t progressing. She wasn't making the normal milestones. He checked her and felt there was something wrong with her, so he had us go to the neurologist; and that's when we found out.”
She continued saying, “At first, she didn't know what it was. Then we found out it was Polymicrogyria, which means that the brain didn’t develop normally. If you look at a picture of a brain, it has little folds in it, and she has lots of tiny folds but none of them were very deep.” Dealing with the Diagnosis of Your Child Phyllis and Keven experienced what most parents do when given a diagnosis. Their world was turned upside down. Phyllis said, “I was crushed. I asked myself, ‘Why me? Why did this happen to me? I do everything I’m supposed to do. I'm a good person and I try hard to do what I should do. Why me?’ that's how I felt.”
Keven’s reaction was initially different from his wife. He said, “I had a lot of hope, still thinking that the doctors would figure something out. I thought that eventually she would come around and get cured..I didn't have that full reality that she wouldn't develop.” Feeding Her was a Challenge When asked about the challenges of life with Laura, both Keven and Phyllis agreed; feeding her. Laura was unable to walk, talk, feed, or do anything for herself. Phyllis said, “Feeding her was really hard as she had a hard time eating. She had a tonic bite. She would bite down and then couldn't release her bit. It took forever to feed her. She would gag and the food wouldn't go down.”
Laura had a feeding tube. For Keven, that was scary. He said, “I guess i worried a little bit her not growing, but once the feeling tube was in, that was its own little fear of learning how, to visually see a tube in her tummy that connected into feed her.” The Joy of Laura was Undeniable One thing Laura was known for was her ‘killer smile’. Keven stated, “You could always tell when she was happy, which was usually the case..there were the joys of just holding her, she was happy..she was always smiling at you and interested if you would sit and talk with her or read her a story; she was always attentive.”
Sharing her joys with Laura, Phyllis said, “Holding her and snuggling her. She was the best kid I ever had. She never talked back to me. She never ran away from me in the store, and she was happy. She was such a happy person.” Grieving the Loss of Your Child Laura passed away when she was ten years old. Phyllis described that loss as, “That was so hard, so hard. I think we lost a child twice. When she was born and she wasn't a typical child, it was like we lost the vision of that child, and then we accepted her for who she was, and learned to love her and enjoy her. Then we lost her when she died; we lost our child all over again.”
Even though she only lived for ten years. Keven and Phyllis described her impact on their family. Keven said, “All of the kids learned to feed her and take care of her and it's nice that they were all introduced to the concept of handicapped people so their eyes were opened into accepting others who were of that nature. They all loved her. We all learned to just love her.”
Phyllis added, “I think she taught my kids to be more compassionate that they would have been..I feel like Laura came here to teach us. She didn't belong to just us. People in the neighborhood would think they were so special because they would come up to her and she would smile at them.” The Greatest Pain was Losing Her
Jen and John were encouraged by medical professionals to abort Jackson after he was diagnosed with encephalocele. They chose to carry him to term and thrilled they did. Jackson is now a thriving two year old who is proving doctors don't always know best. Proving medical professionals wrong The worst birthday ever Jen and John went in for an ultrasound on John's birthday. After the ultrasound tech was acting weird Jen recalled, “I just kept asking ‘is everything okay?’ She was acting quiet and just kept saying ‘The doctor will come in and talk to you.’..Then the doctor came in..he pretty much drew out the picture and told us that if we did continue our pregnancy, our baby would either terminate itself and not go to full-term, or he would have no quality of life if we continued.”
John added, “That was tough with everything going on and every doctor saying ‘Oh you should terminate your pregnancy’ it was kind of a tough thing because we had our other daughter Jacelynn with no problems. Then we tried so hard to get pregnant with him, and it was my worst birthday ever.” Jackson had an encephalocele on the back of his head Despite what they had been told, Jackson was thriving when he was born. They had anticipated him to be transferred to Primary Children's Hospital, Jackson however, stayed in the well unit the entire time.
After he was born, it was discovered he had some other issues. Jen shared, “He was born with an encephalocele on the back of his head. It did have a little bit of cerebellum in it that was removed...at seven weeks. We found out that he had skin tags on his ears, and one of his ears didn’t develop. When they looked at his underdeveloped ears, they also looked at his kidneys. He has a horseshoe kidney and a transverse liver. He has five spleens. He also has a pacemaker.” What does that all mean? An encephalocele is a sack of fluid that can form on various parts of the skull. It happens when the skull doesn’t fuse properly and parts of the brain protrude out.
A horseshoe kidney is when the kidney fuses together at the base and forms one kidney in the shape of a ‘U’. “The hardest thing is dealing with everybody else’s negativity” Even though Jackson has several medical issues, John said hearing the negativity surrounding Jackson has been the toughest part. He said, “It was basically us against the world mentality pretty much because everyone was so negative.”
Jen and John were repeatedly told by several medical professionals as well as some family members that their decision to not terminate the pregnancy was not smart. He was supposed to be a vegetable John shared what happened at an ultrasound, saying, “They told us at the ultrasounds, ‘Only two of his limbs are moving, so he might have had a stroke inside the womb that has paralyzed half of his body.’..pretty much since he’s come out, it has been nothing but positive, positive, positive.”
Both Jen and John agree that having Jackson in their family has been nothing but joy. Jen stated, “..everyday he smiles. He wakes up happy. He is probably the happiest kid, always having a smile on his face. He is loving. He always gives big kisses. I would just say his spirit is so sweet.”
John added, “No matter what, everything he does is always positive. No matter what he goes through, he’s always positive..he brings everybody together..he makes everybody smile. You don't ever see anybody sad with him.” Advice for other parents It was easy for Jen and John to share what advice they would give other parents if they were in a similar situation. Jen said, “I would just show you my son and tell you not to terminate, to continue, and seriously recognize the power of prayer..he is hitting almost every milestone. He is a little delayed, but he will be walking soon..he crawls and climbs”
John said, “If you feel like it’s in your best interest and the best choice for your family to go along with terminating, then that’s on you,
Kimberly and Bobby wanted to take no chances when they found out they were pregnant with their daughter Kyla. They previously had a child who was stillborn after being diagnosed with Trisomy 13 in utero. After receiving normal test results they thought Kyla was going to be just like her older sisters. Kyla was diagnosed with VATER association when she was seven months old. The Happiest Girl Father Notices Abnormalities Kimberly said, “When she was an infant, we noticed right away that something was not typical like our other two daughters..her doctors didn’t notice anything abnormal. She was jaundiced and basic things that could have happened during delivery.”
After Kyla came home, they started noticing that she was having some difficulties. “She was very crooked, and she had trouble having normal bowel movements.” Kimberly shared. They found themselves in the doctor's office frequently trying to figure out what was wrong.
Kyla even started going to the chiropractor several times a week to try and make her more comfortable. When she was six or seven months old, her father Bobby discovered that she didn’t have a complete anus. With an incomplete anus, Kyla was diagnosed rapidly with VATER association. VATER Association This disorder is also called VACTERL association, it affects several different body systems. Each letter in the disorder stands for a different system that is affected. V is for the vertebrae, A is for imperforate anus or anal atresia, C is cardiac abnormalities, TE is for tracheoesophageal fistula, R is for renal or kidney abnormalities, L is for limb abnormalities.
Kimberly explained how Kyla is affected. She said, “Hers include back abnormalities, ribs and kidney abnormalities, a perforated anus and scoliosis..We had an MRI done, which is when they noticed that she had a tethered spinal cord..they began to realize the complexity of her ribs and her vertebra, and the severity of the scoliosis that she had. They obviously noticed at that point that she was missing a kidney and that she had two on the opposite side.” Hardest Part for a Parent of a Child with Disabilities “I think the hardest is when I see her scars and think back to all she has gone through..you see her with her shirt off, and you see her running around, and you realize that she’s got a back that is all cut up. It's devastating because she is so tiny and so loving.” Bobby said.
Learning to accept the unknown is what Kimberly says is the hardest part in raising Kyla. She said, “I don’t know what is going to come and trusting a doctor to take your daughter to when you’re new to the situation and you have a seven-month-old who has to have an MRI...fast-forward to now..the same fear we had giving over your baby to an MRI exists today when we give her over for prosthetic installation.” Happiest Child Ever Right now, Kyla is in between surgeries. Something that Bobby said, “..the joy is right now in enjoying every moment we can with her while she’s not in pain and is running around. We got her a little puppy, and she is super happy. Every time I see her happy, I’m ecstatic, which is all the time because she is always happy.”
Despite her physical abnormalities and multiple surgeries, Kimberly said, “Kyle is truly the happiest kid I’ve ever met. She never lets anything hold her back..the joy of being a mother is heightened because she embraces us so much. She loves us, she takes care of us, she comforts us, and she’s the one who gets us through the hard parts.” Take it One Day at a Time In sharing her advice to other families with a child diagnosed with VATER association, Kimberly said, “Your life will change, but it's not going to be so dramatic that you can’t get through it. You take it one day at a time, one specialist at a time, one diagnosis at a time.”
She added, “You figure it out, you work together, you get your friends together, and you get your family and your community and anybody who can help you who wants to be p...
Martin and Camille have four children. Three of which have a seizure disorder. Camille and Martin were pioneers in getting appropriate services for their children. Camille and Martin were candid about first learning about their children’s seizure disorder and are grateful for them in their lives. Having Multiple Children with a Disability Being born with no issues Camille explained that all three of her children were born presenting no issues. Around five to seven months, is when they started having seizures. Camille said, “The oldest one was considered a genius. She was able to put a puzzle together at the age of four months, and she was able to walk into the doctor's office three or four steps on her own by the age of seven months, and then she had her first seizure.” The medication that she was given to control the seizures was phenobarbital which Camille said will cause an intellectual disability. Her three children took phenobarbital and all developed an intellectual disability. No explanation for seizures “..they never found a specific reason for it or a name for it. They all had the same issue, and then the learning disabilities on top of that were all slightly different.” Camille explained. With their first child, Camille said she had a really hard time dealing with the onset of a disability. She said, “..she had been doing so well and was so bright and cheerful, and then suddenly began having so many problems.” As her seizures increased, so did the doctors appointments. Martin was working so Camille had to go to those alone. Something that Camille said “..it was quite difficult.” As she was talking to the doctors, she said, “I started to think, ‘You know, this is what we’ve got to deal with, and we’ll just figure it out. We’ll make it work.” She shifted the focus of trying to solve the issue to more of, “Okay, how can we make it better for her?” Hardest part was the best part Camille and Martin chose to have their children home with them instead of placing them in an institution. This meant they needed to advocate for their children to get them the support and services they needed to be in a traditional school. Camille said that they were met with pushback from the school districts. She said, “They would say, ‘Well, you’re the only parent that wants that.’ And we’d say, ‘Well, we have three kids like this, so we have three children that we want this for.’ and so by having the multiples, we had a little more push for them to consider it. “ Her advocacy for her children started to help with the organization of local programs in their city. IDEA bill give access to services For Martin, he said that introduction of the IDEA bill made access to services easier for them. IDEA or the Individuals with Disabilities Education Act is a federal law that ensures that people with disabilities get free appropriate access to a public education. Even though this law was passed, Martin said that they were still met with resistance from the school district. He said, “..we had to educate the local public school system as to what was best for our kids rather than what was convenient for them to present to us.” The school would argue that they were the only parents pushing for services and other children didn’t need them. What they learned was that other parents needed and wanted services, but they weren’t aware that they could ask for them. “I think the districts were caught in the middle because they had a financial issue regards to these kinds of services and at the same time, they were obligated to take care of business by federal law. That was a struggle too, that was difficult.” Martin said. The impact multiple children with disabilities have Camille and Martin both shared the impact having their children had not only in their life, but the life of their neurotypical daughter, and their community. Camille said that over the years they would run into people who knew their children with disabilities and they ...
Cindy and Mike were devastated when they learned that their fifth child was going to be born with spina bifida. They were strongly encouraged to terminate the pregnancy. 30 years later they are grateful they didn’t. Evan, their son is happy his parents chose not to listen to doctors. Living a Full-Life Despite Having Spina Bifida Ultrasound reveals spina bifida When Cindy took the alpha-fetoprotein test, she had elevated levels three times higher than normal. Her doctor wanted her to have further testing. Cindy didn’t really think too much into it. She said, “There are a lot of false positives with that test, and I was pretty convinced it was not a problem, my due dates were off, I’m having twins or something else.”
They went to a specialist where they received another ultrasound. During that appointment, she recalled, “..it got really quiet. I was looking at the doctors’ faces, and I knew something was really, really wrong. It stayed quiet like forever, a very long time.”
When they were done, the doctor explained that the baby’s ventricles were enlarged and that he had spina bifida. Spina bifida devastates parents When Cindy and Mike heard the diagnosis they both said that it was devastating. Mike said, “I will have to say that was one of the worst moments in my life, just watching the doctor moving the image on the ultrasound and taking pictures. He was quiet, but he was silently shouting, ‘Something is terribly wrong with your baby.’”
After they received the diagnosis, they were faced with another challenge. Mike said, “The next thing that we faced were people telling us to abort the baby, even on a follow-up exam two or three weeks later.”
They were strongly encouraged to think about their decision. Their doctors told them that it was a decision that they would have to live with for the rest of their son’s life. Cindy said that when they were thinking about what to do, she thought about her other children. She wanted to make sure that they knew that every life was precious. How could she teach her children this if they choose to abort their baby? Challenges in raising a child with spina bifida Cindy said for her the challenges in raising Evan were the surgeries. She explained, “Spina bifida surgeries are kind of hard..When he was born, he stayed 17 days in the hospital, and I missed our daughter’s first day of kindergarten. You feel pulled sometimes.”
She also said that hearing the negatives from the doctors was taxing. “They tell you all the worst it could be. They didn’t want to tell you how good it could be.” Finding people who support you One thing that Mike said helped after Evan was born was finding the right pediatrician. He said, “The first pediatrician we had was very negative. She was one of the stronger advocates for abortion before birth. After Evan was born, a friend of ours who was a nurse recommended a great young pediatrician.”
When referring to their new pediatrician Cindy said, “He said he admired us for continuing with the pregnancy..This doctor was amazing. Having a good doctor really helped us, one who understood how precious Evan was to us because not all of the doctors understood that. This life is precious; it’s important.” 30 years later, the advice they give “The first thing I would tell you is congratulations! You’re having a baby! Babies are so precious no matter what! And it’s a baby first, the disability, the birth defect doesn’t come first. You are going to feel love for that baby that you have never felt before..don’t let the diagnosis overwhelm everything.”
To her advice, Mike added, “Seek out positive doctors and nurses who are going to help you along, especially during the terrible months between the time of diagnosis and the birth. That would really help.” Speaking with Evan After speaking with Cindy and Mike, Gerald had a chance to talk with Evan about his life. The first thing Evan advised was if you have a child that was diagnosed with spina bifida t...
Shirell and Danny have a 15 year old boy named Sam, who has Prader-Willi syndrome. When Sam was first born, Shirell and Danny noticed that he was floppy and looked lifeless, and the doctors discovered his issues right away. For Shirell and Danny the joys have definitely outweighed the hardships.
Kecia and Kris were excited for the birth of their third daughter Brie. When she was born, they discovered that she had Down syndrome. The news was difficult for Kecia and Kris to process. 10 years later, they have realized how amazing Down syndrome is. They have adopted two children with Down syndrome from the Ukraine. Choosing Down Syndrome Down Syndrome Diagnosis Brings Emotional Response Kecia recalled when Brie was born. She said, “I had her via C-section, and I didn’t think anything of it when they showed her to me. I didn’t really recognize any differences.” There became a weird vibe in the OR. The doctors and nurses started whispering in the corner and acting strange.
After Kecia was brought into the recovery room, a doctor said, “I think your daughter has Down syndrome.” Kris said that he knew right away that when he saw Mia that something was different about her. They both became very emotional and fearful for the unknowns. Everything is Going to be Okay About 20-hours after Brie was born, Kecia was finally able to see her. She said, “..I couldn’t see her for a little while, and that whole time I was just scared..I just remember she was in this little incubator and she just wrapped her little finger around mine, and I knew it didn’t matter what she had going on..we were going to be okay.”
She instantly felt like there was something incredibly special about Brie. It didn’t matter what challenges laid ahead, they were all going to be okay. Down Syndrome is Just Like Any Other Baby For Kris, finding out his daughter had Down syndrome was a little overwhelming. He wasn’t too familiar about what Down syndrome was and what it meant for her future. “All I knew is that this was something different and was going to be hard. I remember feeling very scared as a dad, especially worrying about how I was going to protect this little girl.” Kris said.
He learned quickly that she wasn’t too different from his older two daughters. “She was a little baby. She cried like a baby. She smiled like a baby. She cuddles like any of our other babies. You quickly realize that life goes on, and that life is more normal than we ever thought it would be” Communication Can Be Challenging Both Kecia and Kris agreed that the most challenging thing so far in raising Brie has been communication. Kecia said that at times it can be frustrating when Brie can’t fully express how she is feeling when she’s had a bad day at school or if she is in pain.
Kris added, “One challenge is not always being able to understand what they need or what they’re wanting or what’s bothering them..some of those times, not knowing what they need is the hardest thing I think.” The Joys of Having a Child with Down Syndrome “Brie has always been someone special in our family; she’s kind of the peacemaker of our home. She’s always had such a sweet and tender spirit..she’s always been the person that calms the mood of the house down.” Kris said.
Kecia shared a good example of how Brie loves unconditionally. She said, “When she was little, I had her at the park, and she kept walking up to this group of big, scary-looking guys who were working on the plumbing system, and I was trying to keep her away from them, and she kept insisting on going over there. She finally got away from me and walked up to this one particular guy and just gave him a hug. He was digging in a hole of dirt and kind of just looked at her, and he got a little bit tenderhearted looking at her..she’s just always had that ability to know that somebody needs that for whatever reason.” Adopting a Child with Down Syndrome Brie was a few years old when Kris and Kecia wanted to have more children. After experiencing three miscarriages, Kecia thought, “What are we supposed to be doing? Where is our family supposed to be going?” They then turned their thoughts to adoption. Kecia stumbled across a picture of a little girl from the Ukraine. Her name was Mia.
McKenzie anxiously anticipated the birth of her second child. She hoped this child could serve as a buddy for her first child, Trevor, who has Down syndrome. Unfortunately, she found out that Maely had several abnormalities and would die before, during or after birth. Her story is touching as she explained her decision to carry Maely to term. Carrying to Term Despite Fatal Diagnosis Everything seemed to be okay When their first child was born with Down syndrome they were shocked! McKenzie was young and didn’t feel the need to do any prenatal testing. In hopes of helping Trevor with his development, McKenzie and her husband wanted to have another child to help motivate him.
During this pregnancy, they decided to do cell-free DNA testing to be more prepared. McKenzie said, “..everything came back okay, showing no genetic issues, no Down syndrome, no Turner syndrome, or any of those other things, so we were feeling great.” 20-week ultrasound shatters parents world At the 20-week ultrasound McKenzie recalls the sonographer having a hard time with the images. There wasn’t a lot of amniotic fluid and Maely was measuring small. Convinced they had the due date wrong, they told her to come back in a few weeks to allow the baby to grow.
They weren’t worried at all, they had the great results of the cell-free DNA test. Their doctor called them the next day and said, “I’m not too stressed, but I want you to go to a specialist at maternal fetal medicine, just to make sure everything really is okay. They look at babies all day and have a little bit more training than our technicians do.”
The ‘quick’ appointment turned into a horrible 2 hour experience. Not thinking anything was wrong, McKenzie went to that appointment alone. The sonographers found several birth defects. “At the time I didn’t understand a lot of what they were saying to me. I didn’t understand the vocabulary, but there were about 10 things on the list that were problems and three of them were fatal.” McKenzie said Three fatal abnormalities McKenzie explained some of the issues that they found during her ultrasound at maternal fetal medicine. She said, “She had diaphragmatic hernia, so her diaphragm didn’t form all of the way, and it left a space..for her liver to kind of float up into her chest cavity. Her liver was pushing her heart over, so her heart was out of place. She only had one kidney, she also had a cystic hygroma on the back of her head and neck area.”
She continued, “All of those things by themselves are not good news, and all together they were really, really horrible news.” The doctors first thought it was caused by a genetic issue, however, McKenzie had a cell-free DNA test that revealed no genetic issues. This stumped the doctors and led them to pursue further testing. All of the prenatal tests come back normal McKenzie was asked to have an amniocentesis done to get a more in-depth look at what was going on with Maely. To their frustration, the results showed no chromosomal issues. “..having a name to the diagnosis would have helped so much. We were just left with all of these abnormalities that they told us would either cause Maely to be stillborn or die very shortly after birth.” McKenzie said.
That is when the doctors presented the idea of abortion. They said there was no viability for life and didn’t think it was a good idea for McKenzie emotionally or physically to carry her. Despite that, McKenzie said, “I wanted to carry her for as long as possible..I am so glad I stuck with her as long as I could.” Fatal diagnosis puts things into perspective When McKenzie first learned that Trevor, her son could have Down syndrome, she was crushed. She said she was talking to her mom on the phone and said, “I’m glad his heart is okay, and worst-case scenario, he’ll have Down syndrome.” Immediately realizing things could be worse she said, “Whoa, whoa, whoa, Down syndrome is not the worst-case scenario,
Chris and Mindy were expecting their fourth child and went in for a routine ultrasound. Everything seemed great until their doctor called them later that night. He said that their son, Camden, had spina bifida, hydrocephalus, and clubfeet. They were given the option of abortion several times. They chose to carry Camden to term and are grateful they did. Enjoying the Ride
Whirlwind of News
Mindy shared when they first learned their son, Camden, was going to be born with some abnormalities. She said, “He was our fourth, so it was just a routine ultrasound..our doctor called us that night and said we should probably sit down for the news.” He told them that Camden’s spine didn’t close all the way which is a sign of spina bifida. He also said that they found dilation on his brain which is a sign of hydrocephalus.
“..it was just a whirlwind. I didn’t really know what to say. I just remember saying, ‘I don't know what any of that means, but I know that it’s going to be okay.’ Our doctor was great through the whole thing. He believed in the same thing as we did; that babies come the way they’re supposed to.” Doctor Only Gives Grim Prognosis After speaking with their doctor, they were referred to a high-risk doctor. Mindy says that experience was completely different than her regular doctor. She said, “That doctor also found that Camden had clubfeet in both feet, and he was the one who told us over and over that we had up until 26 weeks in Vegas to abort him.”
He kept reminding Chris and Mindy that he wasn’t going to have a great quality of life, the hydrocephalus would mean Camden had brain damage, and he would never walk. He kept presenting them with worse-case scenarios. He did however, give them the option of doing fetal surgery in utero. This would close the hole in Camden’s back and hopefully prevent any more nerve damage from occurring. Fetal Surgery Corrects More Than One Issue Chris and Mindy chose to have the fetal surgery to help with Camden’s spina bifida. This is something that Mindy referred to as a ‘miracle’. Camden ended up coming early at 32 weeks and five days.
“He had what was called Chiari malformation, and that was where the brain was being pulled down into his spine, and he had the worst grade of it in utero, but after the fetal surgery, he went back up to, I believe, a zero, grade one which is awesome.” Multiple Diagnoses The first thing Camden was diagnosed with is spina bifida. This is caused when the spine and spinal cord don’t form properly. This can cause defects to the spinal cord ranging from severe to mild.
His second diagnosis is hydrocephalus. This happens when there is too much fluid buildup on the brain which puts pressure on the brain. Typically a shunt is placed to help drain the fluid. Luckily, Camden hasn’t needed a shunt.
The last diagnosis Camden has is clubfeet. This is when the child’s foot is twisted out of shape or position. Clubfoot results in the tendons being shorter than usual. It can be corrected without surgery, although some children might need it later in life. Joys Despite Several Diagnoses At the young age of two, Camden has already had several surgeries. This has been hard on his parents to watch. However, they see what he’s been through and are inspired by his attitude of never giving up. Mindy said, “He always finds a way around something and doesn’t get down about it. It has been a lesson for us for sure.”
For Chris, his joy comes from simply being with Camden. He said, “I feel it when I’m with him; I feel the light that he brings to the world and to my life. He’s always happy, and I definitely feel that.” Disabilities Teach Compassion For his older siblings, the impact Camden has had on them is greatly noticed. Mindy said, “I think it’s brought out an understanding and compassion in them in how to embrace other children who have disabilities at school or out in society. They already have that love for them from Camden.”
Lisa and Steven have a son named Matt who has Epilepsy and and a developmental delay. When Matt was six, he had his first Grand Mal seizure; his parents took him to the doctor where he was then diagnosed with Epilepsy. Lisa and Steven describe Matt as a loving and gifted child; he is affectionate and has a desire to please others.
Janeen is the proud grandparent of Hunter, a 10 year old boy who was diagnosed with lissencephaly. Janeen was candid about her experience with Hunter and the joy he has brought into her life and his family’s life. A Grandma's Love Four-month-old diagnosed with lissencephaly Even though Hunter wasn’t officially diagnosed until he was four months old, Janeen said that when he was born they suspected that something was wrong. She recalled, “He didn’t hold his head quite right, he couldn’t nurse, and he wasn’t sucking.” They thought maybe he was just developmentally delayed.
Hunter had a cousin who was born just a few days before him, this made it tricky to not compare the two. However, as the months went on, the differences between the cousins was undeniable. “He would arch his back quite often; he wouldn’t cuddle, just arch his back.” Janeen said.
One day, Janeen received a phone call that would change everything. Hunter had a seizure and was at Primary Children's Hospital. “They did a CAT scan and MRI..they called us all in when the neurosurgeon was there, and he told us what Hunter had..I witnessed two parents fall to their knees and sob, you know, just sob.” Lissencephaly Translated, lissencephaly means ‘smooth brain’. It is a rare genetic condition that causes the child’s brain to develop improperly during pregnancy. This can result in a wide variety of severity and symptoms.
Some of the symptoms include: difficulty swallowing, muscle spasms, severe intellectual disability, severe physical disability and seizures. Some children with lissencephaly never sit, stand, walk or roll over.
For Hunter, he has been in a wheelchair for most of his life, he is non-verbal and uses the assistance of a feeding tube. Depending on the severity, they can have a shorter life expectancy. Bryson and Emily were told that Hunter would only live until he was five, he is now 10. Hardest part as a Grandma “Watching the seizures was probably the hardest part at first. He never cries tears, but with the seizures, he’d cry tears and so sometimes I’d just cry with him..feeding him was hard as he didn’t swallow until he got the feeding tube; it took a long time to feed him.” Janeen said.
Janeen was lucky enough to live close to Emily and Bryson, Hunter’s parents. Janeen was their respite care. She would come and help take care of Hunter and their other children so Emily and Bryson could get some rest. As time went on, there were other challenges that would come up.
Hunter became increasingly difficult to care for. Janeen said, “To carry him around was difficult; he’s 10 years old, but he’s as tall as I am now. He’s got tall parents, and so he’s tall and dead weight, and he doesn’t help you a whole lot. To pick him up, carry him around and move him from his bed to his wheelchair or somewhere, that got hard for me.” Finding peace in his diagnosis Living so close, Janeen was able to witness how Emily and Bryson dealt with Hunter’s diagnosis. A few days after his diagnosis she went over to see how they were doing. She recalled, “I got over there, and Bryson was laying on the couch by Hunter, and I walked in there and went to kiss Hunter on the check, and Bryson said, ‘See, I told you you’d get more kisses now.’..I was a little shocked.”
Bryson told Janeen that all along he knew something was wrong. Getting an official diagnosis was something that put him at ease. He was finally able to find peace and deal with it. Janeen was expecting there to be more heartache and all she saw was peace, calm, and love. Moving away was the best thing When Hunter was almost seven years old, he moved with his family to Arizona to have better access to state services. His parents used to switch off every other night who would help Hunter. When they moved to Arizona, they were able to get him nurses that would come at night.
Janeen said, “..for the first time in their lives, they slept. I think it changed their lives.
Sydney and Darren courageously chose life despite being told that their daughter had a fatal condition. Grace was diagnosed with alobar holoprosencephaly. She lived for five and a half hours and greatly impacted those around her. Finding Beauty in Your Baby's Death Your baby is going to die When they had their 20-week ultrasound Darren and Sydney received news that no parent wants to hear. The ultrasound tech said to them, “There’s something that’s a little different, but I don’t know what it is. I’m going to have the doctor look at something, so we’ll be back.”
After the doctor came in, he confirmed the sonographer’s suspicion. He wasn’t sure exactly what was going on and referred them to see a specialist. Luckily, the specialist was able to see them the same day. They were told that their baby didn’t have any separation between the two hemispheres of her brain. Grace has alobar holoprosencephaly, a fatal condition. Subtly bringing up abortion After receiving their diagnosis, the doctor talked with Darren and Sydney about their options. They recalled him talking about their ‘options’ even though the only option he really talked about was abortion.
Darren recalled him talking very, very fast talking about what Grace had. Finally it occurred to Sydney and Darren that they only had two options abortion or carrying to term. “He presented the abortion option, and it was subtle and kind of..smooth. However, the other option was the one that we chose.” said Darren.
Only wanting the chance to see her and hold her Sydney asked, “What’s the likelihood that she’ll make it to birth?” Her doctor replied, “You know the probability is high.” even though he brought up abortion first. This made both Darren and Sydney feel like he wanted them to chose abortion. “She made it!” At 37 weeks Sydney was induced to prevent the need for a C-section. “We went in for the inducement, and labor went pretty smoothly. Towards the end, the baby’s heart kept dipping, and that was really stressful to me because I just wanted her, I just wanted to hold her.”
Finally, Grace was born and let out a tiny little cry. “She made it!” is what Sydney said. It took about 15 minutes for Sydney to be able to hold her. The neonatologist made the decision to intubate Grace because she wasn’t able to breath on her own. Feeling of instant love When Sydney was finally able to hold Grace, she described the experience as, “They put her in my arms, and it was just instant love for her.” They were able to have their other two children meet Grace and hold her and give her love.
Their four-year-old daughter kept saying, “Grace loves me! Grace loves me!” Sydney said, “She wasn’t a normal looking baby..Grace’s nose was deformed and she only had one nostril. She had a very large head and her eyes were close together..but my kids didn’t care one bit. Living for five and a half hours “I’ll never forget that experience of holding her and loving her.” Sydney shared. They were able to get a video of their time with Grace, something that they will always cherish. Many of their family members were able to meet Grace and hold her.
This is something that Darren said, “I think she blessed everyone’s life that she came in contact with. I think everyone who held her was changed.” Her impact is still felt Sydney first thought it would be weird to hold Grace after she passed away. However, she said, “..it was so interesting cause there was still so much comfort in just holding her little body. I still felt very much at peace about the whole thing and she was still my little baby that I was holding.”
In preparation for her burial, Sydney’s 17-year-old brother was able to help her get Grace ready. She recalled the sweet experience as, “..you’d think that for a teenage boy, emotions are beneath him, but after we left, he looked at us in tears and said, ‘Thank you so much for letting me come. It was definitely a different experience holding her..thank you so much.
Justin and Amber were nervous to welcome their son, Finneas. They learned at an ultrasound that their son would be born with some chromosome disorder. They were told that their son would be a burden and encouraged them to have an abortion. They chose life and are grateful everyday as Finneas, who has Down syndrome, has brought more joy and love into their lives than they could have imagined. Down Syndrome is Pure Joy Something is wrong At 14-weeks pregnant, Amber was experiencing some pain and went in for an ultrasound. They initially thought she had cysts that were bursting. She said, “They noticed that my sacks weren’t growing together, and that indicates a chromosomal abnormality.” There were three possible diagnoses that they gave Amber and Justin; Trisomy 13, Trisomy 18, or Trisomy 21.
They were offered an abortion because there was a very strong possibility that there was something wrong. They wanted Amber and Justin to pursue further testing. They both declined knowing that it would be an increased risk of miscarriage.
Results from testing wouldn’t change their opinion about aborting their baby or not. Just said, “We knew the possibilities and risks were there, and when we found out that there was something wrong, without really knowing the extent of it..we just kept going.” High-risk pregnancy is stressful From the beginning, Amber’s pregnancy was labeled as high-risk. Amber has MS and was really worried about caring for a child with a disability. She thought, “How am I going to take care of this kid?”
They both were a little apprehensive as to how to tell their other two children. Amber recalled, “I was worried about the other kids, wondering if they would still be excited..It was scary to me, but that was one of my first thoughts, ‘Are they going to love him?’” They tell you more negatives than positive ones Neither Justin and Amber had met anybody with Down syndrome. They were scared for the unknown. Amber explained that the genetic counselor and doctors didn’t really provide much peace or positivity. She said, “..honestly, the genetic counselor, the doctor, everyone we talked to that day, is all of the negative things..they tell you how bad their IQ is going to.”
Just agreed when he remembered the advice they received. He said, “..they spent almost all the time on how much of a burden it is instead of..how beautiful and wonderful it can be.” Children make diagnosis easier When Amber and Justin told their two children that Finneas was going to be born with Down syndrome they had the best reaction. Amber recalled trying to figure out how to explain what Down syndrome was and how it would affect him. Finally her daughter said, “So, what you’re telling me is that he’s going to be a boy trapped in a man’s body?” Amber replied, “Actually that is kind of what I’m saying.” Her daughter thought for a minute and finally said with a huge smile on her face, “That is awesome!” Amber questioned why she thought that. Morgan replied, “Because he’ll always be fun! He’ll always be fun.”
Amber has since recognized several other moments like this that she said, “They are probably the biggest, most wonderful that could have happened that helped me process through because every single thing that I thought of as a negative, my older kids somehow turned into a positive.” The joy from Down syndrome is contagious When asked about what was challenging in their life so far with Finneas, both Amber and Justin had a hard time thinking of anything. They ended up sharing their joys instead! Amber said “He’s just sunshine..He just has a presence. I don’t know how to explain it exactly. He’s just amazing..it’s just love.”
“It’s a joy you can’t explain. For Christmas, Amber got me a little calendar with pictures that I have on my desk at work, and when you show people that, they just go, ‘He is just beautiful.’ I can’t explain it, but they are just drawn to him, and that is the biggest joy I have,
Bryson and Emily were thrilled to welcome their first child Hunter. They started noticing that Hunter was falling behind in some of his development. When Hunter started having seizures, they knew something was wrong. He was diagnosed with lissencephaly. Bryson and Emily were candid about what life has been like over the past 10 years. Everyone Has Something to Offer the World Three-month-old has seizures When Hunter was born, Bryson and Emily had no reason to suspect that he was anything but perfect. A few months later, it became more apparent that something was off with him. Emily said, “..he has a cousin who was born five days after him, and we saw those two babies side-by-side, right from the start.”
They noticed Hunter's cousin was starting to make eye contact, focus on faces and was starting to smile. This was something that Hunter wasn’t doing. Then Hunter started having some other issues. Bryson recalled, “When Hunter was about three or four months old, he started having seizures.” At first they didn’t know they were seizures and made an appointment with his doctor. The seizures continued and Bryson and Emily ended up at an urgent care facility where they were then transferred to Primary Children’s Hospital. Parents were devastated by diagnosis After Bryson and Emily learned that Hunter had lissencephaly they were heartbroken. “It was pretty devastating I think at first. You have an idea, he was our first kid, so you get the nursery together and decorate the room. You think of soccer games and just everything else that you’ve got in your head of how your life with children is going to go, and it was quite a different story than what I had in mind.” Bryson shared.
Emily was equally as devastated, she said, “I think it shattered both of us. It was really bleak too. Because what they told us in the ER was that he wasn’t going to live very long and that his quality of life would be horrible..we went home feeling pretty shattered.” Lissencephaly When translated, lissencephaly means ‘smooth brain’. It is a rare genetic condition that causes the child’s brain to develop improperly during pregnancy. This can result in a wide variety of severity and symptoms.
Some of the symptoms include: difficulty swallowing, muscle spasms, severe intellectual disability, severe physical disability and seizures. Some children with lissencephaly never sit, stand, walk or roll over. Challenges in raising a total-care child Hunter is what is considered as total-care. Meaning that he is unable to perform any tasks independently. Bryson said that at first, it was easier to take care of him. He was small and easier to transport. “..as he’s gotten bigger, he has required more help. We’ve had more children too, so juggling all of that is the biggest challenge.” Bryson said.
For Emily the biggest challenge is what she referred to as ‘sensory overload.’ She said, “From the time that he was really little, you could hear him kind of struggling to breathe. He has a hard time managing all of his secretions, and so everywhere you go in the house, you can’t be too far away, and you hear him struggling for every breath.” His time is limited When Hunter was first diagnosed, the doctor said, “He’ll probably live two to five years. Maybe best-case scenario, eight years.” Emily and Bryson knew their time was limited and decided to dedicate all of their time, effort, and energy to Hunter. Bryson said that his level of focused parenting has spilled over to their other children as well.
Emily contributes knowing how strong she truly is to Hunter. She said, “I think that he shows me everyday, how to endure things that are hard with courage and grace and I feel like I can’t help but try and walk through this journey of his, here on this earth with him, without being inspired by how he faces challenges...one of the biggest blessings have been to see the love and the good things in other people that he seems to bring out.”