22q Podcast: Recent Episodes
Becky White
The 22q Podcast is a place for individuals connected to the 22q community to share their stories. We will hear from those living with 22q, parents of 22q children, & medical/educational professionals who will share their knowledge, successes and struggles about this syndrome. 22q11.2 deletion syndrome is a disorder caused by small missing portions of the 22nd chromosome. This can result in a unique combination of over 180 different symptoms. It occurs in approximately 1 out of every 2,000 live births, it is the second most common genetic disorder after Downs Syndrome.
Abby is a fraternal twin and within her first few months of life her mom Amy could tell that something was a little different with Abby but she didn't know what. She had speech delays, gross motor delays but just didn't know what it could be. Then at the age of 7 Abby was going to get her tonsils removed with the doctor, who happed to have studied 22q, was able to look at Abby and tell that she had 22q. That is when she was sent for genetic testing which then confirmed his hypothesis.
This episode was recorded on May 17, 2023
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Within this episode we discussed:
- acid reflux
- speech delays
- gross motor delays
- 7 had her tonsils removed and the doctor had studied with doctor who discovered 22q and suspected that Abby had VCSF.
- Genetic testing confirmed that she had 22q.
- Syracuse specialist to do a series of tests
- Pharyngeal flap speech
- Scoliosis
- Spinal fusion surgery at CHOP
- 22q Center Children's Hospital of Philadelphia
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
YouTube - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
When Mikey was younger he didn't know he even had 22q until his open heart surgery at the age of six. He started to notice that he had health issues that his friends and classmates didn't have to contend with. Mikey never let his diagnosis hold him back and continued to follow his passion for music, especially playing the drums. Picking up his first set of drum sticks at the age of four, Mikey realized he had a superpower. He was able to play the drums by ear and did not have to read sheet music. His passion for drums landed him spot in his current band named Hills Block View. Check out the links below to listen.
This episode was recorded on May 8, 2023
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Within this episode we discussed:
- BAND - Hill Blocks View - Website
- Instagram @hillblocksviewofficial
- Facebook @hillblocksviewofficial
- YouTube Page @hillblocksviewofficial
- Spotify
- Apple Music
- Knee difficulties
- We Got The Beat - Drum Class
- Roosevelt School For The Arts, Fresno, CA
- Giants Baseball Fan @sfgiants
- Bullying
- CHOP - 22q Magazine Cover Model - 22q11.2 Deletion Bringing the 22q11.2 Deletion Into the 21st Century June 22-25 2000. The Children's Hospital of Philadelphia. @childrensphila
- 22q Center Children's Hospital of Philadelphia
- Mikey on Instagram @mikeyplaysdrums
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
YouTube - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Shelby is an adult living with 22q and has a passion for sewing. She began sewing at the age of 11 and has been sewing every since. Making quilts for individuals with 22q and mailing them across the country. She has made over 43 quilts to date and doesn't intend on stopping any time soon.
Her mom, Stacy also shared how scary and challenging Shelby's first few years of life were. Shelby had genetic testing done around the age of one but nothing came back positive. So at two and half years old, she sent to a clef and pallet team, who were able to diagnose her and test her for 22q. Stacy remembers receiving that phone call that confirming that her daughter had 22q. As she hung up the phone she felt numb and crushed all at once. She knew she had to learn Shelby and what this new diagnosis meant for her baby girl.
Links:
Shelby's Stories FB: https://www.facebook.com/groups/450865518418577/?ref=share_group_link
22q Postcard Swap: https://www.facebook.com/groups/270932664985684/?ref=share_group_link
Amazon Wish List: https://www.amazon.com/hz/wishlist/ls/1K2FHPHP6UIZM?ref_=wl_share
Walmart Wish List: https://www.walmart.com/registry/ER/f426d3b8-347b-42b8-8a9d-5240a9b99bb8
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Within this episode we discussed:
- Teaching Shelby to advocate for herself
- 22q family foundation
- Nationwide National Confrence for 22q
- 2 sinus surgeries
- 2 hernia repairs
- Left Knee Surgery - patella instabilities
- Hypoparathyroidism
- “I have 22q but 22q doesn’t have me.” -Shelby
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- Shelby on Instagram @
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
After a typical pregnancy and birth, Noah came into the world with no cause for concern. That all changed at around 3 weeks old when Noah started to get sick. He developed continuous repertory issues like RSV and pneumonia. He continued getting sick every month and at 19 months old he was scheduled to have his first set of ear tubes placed but was quickly stopped after the doctors found that he had a severe Vascular Ring that they needed to address first.As Noah grew he continued to have different health conditions appear. This caused Brooklyn to question if something else was going on with her son's health. Noah was finally approved for genetic testing at 6 years old and that is when it was confirmed that he had 22q. This diagnosis however did not cure his ongoing resperatory issues. That was corrected after a 24 day stay at the hospiatl when an ENT did another routine chest scope and found a tiny pin hole size opening leading to his lungs. This sealed up the hole and Noah's respatory issues diapered.••••••••••••••••••• Within this episode we discussed: Constantly sick with respiratory Issues, RSV, Pneumonia Vascular Ring Ear tubes and adenoids removal cyst in his jaws division of the left subclavian artery Patricia Dubin - ENT Laryngeal Cleft If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone. Instagram - @22q.podcastFacebook - @22qpodcastEmail - 22qpodcast@gmail.com#22qpodcast
Brady Murray is the President and Founder of a non-profit called RODS Heroes which helps orphan children who have unique challenges find their forever family. In this episode Brady shares one particular orphan named Johan. Johan is a sweet, quiet-natured fifteen year old boy who has been in an orphanage since he was 6 years old and will be aging out of adoption by the end of November 2023. Brady hopes to find a family for Johan soon and give him a chance to live a full life of love and reach his highest potentials. Johan deserves the chance to shine his light outside of the walls of an orphanage.
Brady also shares his personal perspective as a dad and his son Ridge, who was diagnosed with 22q at the age of 2. He shares how challenging it has been navigating Ridge's "invisible diagnosis" of 22q compaired to his other son's diagnosis of Down Syndrome. Brady used a beautiful analogy saying when he found out about his other son's diagnose of Downs Syndrome it felt like someone switched on a light and he dove head first into that diagnosis and becoming a special needs parent. But compared to Ridge's 22q diagnosis, for Brady it has felt more like a slow sunrise that he is beginning to learn more about 22q with time.
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Within this episode we discussed:
- RODS Heroes - Non Profit Organization - www.rods.org
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
At 36 weeks Jen couldn’t feel her baby moving and went to the nearest hospital. During the ultrasound they found out that her babies heart rate had started to decline and Jen was rushed into an emergency csection. Hazel was delivered and soon after found out that she had Esophageal atresia, which was later repaired at Boston Children's Hospital using the Foker Process.
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Within this episode we discussed:
- Boston Children's Hospital - What is the Foker process?
- What is the Foker process?
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- Esophageal atresia - Foker process - Pediatric Playbook
- The journey of continued grief
- Worrying about who will fight for our children once we no longer can
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Robin and her husband had a beautiful baby girl named McKenna who was quickly diagnosed with 22q. It was recommended by the genetics team to have their entire family tested. After a few months the results came back that her husband and other daughter's test came back negative but Robin tested positive for 22q. She had been living her who life with this deletion syndrome and had no idea. Throughout this episode Robin shares her perspective of what it was like being given this diagnosis at 33 and how she has been navigating her daughters medical and school challenges.
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Within this episode we discussed:
- Few hours after birth started shaking due to low calcium and had a seizure.
- Genetic testing confirmed that Makena and Robin both had 22q
- First open heart surgery 7 days old.
- Conduit malfunction, which needed another open heart surgery.
- NGTube
- 18 months needed Oxygen
- Bronchoscopies
- GTube
- Aortopexy heart surgery
- School and placement in a typical classroom or Self Contained
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Trauma is a response to an intensely stressful event(s) or situations. The effects can be long-lasting, but healing is possible. For todays episode I invited Psychotherapist, Larry Shushansky to answer all of our questions around trauma. With over 45 years as a physiotherapist Larry has helped hundreds of individuals process and navigate past traumatic experiences. Within the 22q community trauma is a common occurrence so I wanted to ask Larry how we can recognize trauma and begin the healing process.
70% of adults in the U.S. have experienced some type of traumatic event at least once in their lives. Trauma is less about the event and more about how you responded. But some events are more likely to lead to trauma than others.
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Within this episode we discussed:
- Define Trauma.
- What are the mental and physical effects of trauma?
- Causes and types of trauma.
- Emotional trauma: The feelings traumatic events leave us with. Characterized by feeling unsafe in one’s body, emotional trauma can alter our brain function and lead to an overarching sense of hopelessness.
- Complex trauma: A series of traumatic events that can have a lasting impact.
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Secondary trauma. Also known as vicarious trauma, secondary trauma refers to being a witness to trauma. Witnessing a traumatic event can impact your emotional health and is deserving of support, empathy, and compassion.
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What mental health conditions are associated with trauma?
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How to heal from trauma?
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Some book recommendations for understanding and healing trauma include:
- “The Body Keeps the Score” by Bessel van der Kolk, MD
- “It Didn’t Start With You” by Mark Wolynn
- “Healing the Fragmented Selves of Trauma Survivors: Overcoming Internal Self-Alienation” by Janina Fisher, PhD
- “Trauma and Recovery” by Judith Lewis Herman, MD
- “The Complex PTSD Workbook” by Arielle Schwartz, PhD
- “Trauma and the Body” by Pat Ogden, PhD
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“What Happened to You? Conversations on Trauma, Resilience, and Healing” by Bruce D. Perry, MD, PhD, and Oprah Winfrey
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PTSD may increase your risk of self-harm. If you’re considering self-harm or suicide, you’re not alone. Help is available right now:
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Call a crisis hotline, such as the National Suicide Prevention Lifeline at 800-273-8255.
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Text HOME to the Crisis Text Line at 741741.
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Rachel Hibbard's daughter Jen inspired her to write a children's novel/coloring book called "Just Jen: Living With Invisible Differences."Jen's first year of life with 22q nearly killed her and her mother due to many complex medical needs. Rachel recalls what happened and shared how she and her daughter have been working on their healing journey from the medical trauma they endured.
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Within this episode we discussed:
- Rachel's Book - Just Jen: Living With Invisible Differences
- Munster Community Hospital Munster Indiana
- Extra amniotic fluid
- 22q Family Foundation www.22qfamilyfoundation.org
- Hernia
- Soft pallet cleft
- Heart - two holes in her heart and a PDA (Patten ductus arteriosus) Patent ductus arteriosus (PDA) is a persistent opening between the two major blood vessels leading from the heart.
- Feeding issues - refused to nurse. Couldn’t get good suction.
- Lip Ties
- Rachels' Thyroid was shutting down
- GI Bleed
- NG tube
- Pike line
- Blood transfusion 5 times
- G tube
- Midline Queen
- Failure to thrive
- Scoliosis
- Missing a vertebrae T 4
- Heart cath, PDA repair
- PT OT Speech. Delayed speech until 3 ½
- Zero depth perception
- Mild hearing loss
- Therapy to discuss past trauma / medical trauma
- EMDR - Eye movement desensitization and reprocessing
- “There is purpose in my pain now and it is good for me to think of it that way.”
- BOOK - “What to do when”
- BOOK - Nonverbal Learning Disabilities at School: Educating Students with NLD, Asperger Syndrome and Related Conditions
- BOOK - Nonverbal Learning Disabilities at Home: A Parent's Guide
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BOOK - The Body Keeps the Score: Brain, Mind, and Body in the Healing of Trauma
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Rachel Email: rshibbardauthor@gmail.com
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Rachel on Instagram @rshibbard
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
What is 22q with genetic scientist, Dr. Shruti Mitkus, the Director of Genetic Education and Navigation.
Global Genes Website
22q11.2 deletion syndrome (22q) can affect any system of the body, however most children with 22q have heart, immune, learning, speech, and/or behavior difficulties. Each person with 22q has their own unique needs, and interdisciplinary team care is the best management approach.
22q is also known as:
- DiGeorge Syndrome (DGS)
- Velocardiofacial Syndrome (VCFS)
- Conotruncal Anomaly Face Syndrome
- Autosomal Dominant Opitz G/BBB Syndrome
- Cayler Cardiofacial Syndrome
- Shprintzen Syndrome
In approximately 1 in 10 families, the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with this syndrome should have a blood test to determine their chances of having other children with the syndrome.
What Are the Symptoms of 22q Deletion Syndrome?
There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues.
The majority of these patients also have congenital heart defects, most often these are conotruncal abnormalities:
- Tetralogy of Fallot
- Interrupted aortic arch
- Ventricular septal defect (VSD)
- Vascular ring
- Truncus arteriosus
Or Palatal defects:
- Submucosal cleft palate
- Velopharyngeal dysfunction (VPD) - abnormal nasal air escape and hypernasal speech
Some of the other common problems include:
- Feeding difficulties, including nasal regurgitation of food and fluids, vomiting, gastroesophageal reflux (GERD)
- Hypocalcemia
- Gastrointestinal problems, including constipation, and GERD
- Immune system disorders, including recurrent ear infections and sinusitis, respiratory infections, and autoimmune diseases
- Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.
- ENT problems, including laryngeal webs and external ear anomalies
- Asymmetric crying facies
- Cleft lip and palate
- Orthopedic issues, such as scoliosis, club feet, or cervical spine abnormalities
- Inguinal, umbilical and diaphragmatic hernias
- Growth problems, sometimes associated with growth hormone deficiency
- Developmental delays, including both language and motor skills delays
- Autism
- Obsessive-compulsive disorder (OCD)
22q11.2 deletion syndrome is a genetic defect caused by a microdeletion on the long arm (q arm) of the 22 chromosome.
Since 22q11.2 deletion syndrome has the ability to affect every system of the body, it is important that affected children are treated by a team of pediatric specialists who can identify the variety of physical and psychosocial needs these patients may have. The earlier these symptoms are detected, the more we can do to help. That’s why evaluation is recommended in some or all of the following areas:
- Audiology
- Cardiology
- Developmental Pediatrics
- Cleft Lip and Palate Center
- Resonance Disorders Program
- Speech Pathology
- ENT Services
- Endocrinology
- Interdisciplinary Feeding Evaluation
- Genetics
- Immunology
- Hematology
- Neurology
- Neuropsychology
- Behavioral Health
- Orthopedics
- Urology
Although there is no cure, many therapies and medical interventions are available to help address its associated symptoms.
We discuss all the resources that Global Genes could provide for 22q families with Mary Morlino, who is the rare concierge patient services manager. Global Genes was born to connect, empower and inspire the rare disease community. Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. We fulfill our mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf.
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Within this episode we discussed:
- Global Gene Website - www.globalgenes.org
- RARE Concierge is our service where patients/caregivers can contact us to get information, resources and support.
- RARE Compassion is our program that provides an opportunity for medical students to learn about the unique challenges individuals and their families face living with an undiagnosed or rare disease.
- Share Your Story gives patients, advocates, caregivers or supporters the opportunity to share their unique story with the rae community.
- INSTAGRAM - @globalgenes
- FACEBOOK - https://www.facebook.com/globalgenes
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
The Dragonfly Forest specialty camp is a traditional overnight program for kids with Autism, 22q, Asthma, Sickle Cell Disease, and Hemophilia. We aim to make camp a reality for as many families as possible. By partnering with parents and experts in the medical field, we can provide accommodations for our campers that allow them to be successful at camp. Dragonfly Forest aims to provide a culture of inclusion while fostering confidence and independence in each of our campers. Hear from Dani, Director at Camp Speers YMCA, PA and hear about The Dragonfly Forest 22q camp and all it has to offer our community.
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Within this episode we discussed:
- Call the Camp Office: 570-828-2329
- Email Camp: campers@philaymca.org
- Camp Speers YMCA Website: www.campspeersymca.org
- Dragonfly Forest Webpage: https://www.campspeersymca.org/summer-camp/dragonfly-forest.html
- Register for Camp: https://www.campspeersymca.org/register.html
- Donate to Dragonfly Forest & Camp Speers YMCA: https://www.campspeersymca.org/give.html
- Camp's Amazon Wishlist: https://www.amazon.com/hz/wishlist/ls/7NX11KOX9UKC?ref_=wl_share
- Camp High Hopes IOWA
- INSTAGRAM - @campspeersymca
- FACEBOOK - @CampSpeersYMCA
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Adam Hoge is known for his incredible coverage of the Chicago Bears and has also covered baseball and football in Chicago since 2008. He can also be heard on the Hoge and Jahns Podcast, but today we are going to be discussing something other then sports. Adam will be sharing his son, James's 22q journey. James was delivered premature at 31 weeks, while his family was on vacation. After delivery, he was placed in the NICU due to his size and other health complications that arose. James was in the NICU for over a month when one day a group of doctors entered his room and told Adam and his wife that it was confirmed that James had DiGeorge Syndrome (22q).
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Within this episode we discussed:
- The Lurie Children's 22q Deletion Center
- Right aortic arch is a heart condition in which the aortic arch develops on the right side of the airway instead of the left side.
- Ventricular septal defect (VSD) - A heart defect due to an abnormal connection between the lower chambers of the heart (ventricles).
- 22q Family Foundation www.22qfamilyfoundation.org
- Hoge & Jahns Podcast
- Adam on Instagram @adamhoge
- Adam on Twitter @AdamHoge
- Adam on Facebook
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
On August 21, 2017 most of the United States remembers the solar eclipse that occurred that day but for Shannon Swiger and her husband they remember that day for a different reason. That was the day they received an email confirming that their baby had 22q. From what Shannon shared in this episode, receiving that email felt like a solar eclipse on their lives. A shadow that was casted over them, that brought fear, uncertainty and questions. This is Julia's story of resilience and how the Swiger family was able to find the sun shine once again.
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Within this episode we discussed:
- One kidney.
- Delivered at 30 weeks. 3lbs. 5 oz. and spent 5 months in the NICU.
- Polyhydramnios is when you have too much amniotic fluid.
- G-tube, wasn't able to swallow or eat. GJ Tube due to reflux.
- Breathing, eating and extra secretions where her biggest challenges at first
- An esophageal stricture refers to the abnormal narrowing of the esophageal lumen; it often presents as dysphagia, commonly described by patients as difficulty swallowing.
- Autism - ABA Therapy.
- 22q Family Foundation www.22qfamilyfoundation.org
- Parent-Child Interaction Therapy – also called PCIT – is an evidence-based treatment for young children with behavioral difficulties.
- Baby Signing Time - American sign language for babies and kids
- Labeled and Loved - Sticky Notes for the Heart - www.labeledandloved.org/sticky-notes-for-heart/
- 22q11 Clinic at Duke Health - Dr. Vandana Shashi
- iCan Shine - Dance, Swim and Bike programs - iCan Shine provides quality learning opportunities in recreational activities for individuals with disabilities.
- Shannon on Instagram @lifeofswigers
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Kapil's son, Niam was diagnosed with 22q in utero following the 20 week ultrasound after doctors noted a heart abnormality. Since birth, Niam has bravely faced many procedures, checkups, and illnesses, including two open heart surgeries, four angioplasties, a g-tube, and ear tubes. Throughout Niam’s challenges and victories, Kapil has been one of his fiercest advocates and has begun focusing on finding more ways to provide a better life experience for kids suffering from diseases and disabilities. He shares his perspective of what it is like being the father of a child with 22q and how he and his wife use communication to navigate all the challenges on their journey.
Kapil refers to himself as a serial board member and is the current Vice President of The 22q Family Foundtation. He is also a member of the Family Advisory Board and the Surgical Experience Advisory Board at Ann & Robert H. Lurie Children’s Hospital of Chicago, with the hope of helping to make parents experiences at the hospital even better. He recognizes the stress and challenges that comes with having a medically fragile child and is truly, one incredible dad.
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Within this episode we discussed:
- Lauri Children's Hospital
- Trucus Arteriosus - a birth defect of the heart. It occurs when the blood vessel coming out of the heart in the developing baby fails to separate completely during development, leaving a connection between the aorta and pulmonary artery.
- G-Tube
- Ear Tubes
- Ear reconstruction
- info@22qfamilyfoundation.org - want to get involved with the 22q family foundation
- Vice President of the 22q Family Foundation www.22qfamilyfoundation.org
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- Ancona School - Chicago
- Welcome To Holland - Poem by: Emily Pearl Kingsley
- Communication between your family and partner is key, when you have a medically fragile child.
- Kapil on Instagram @
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
In 1990 Judi was sent from one doctor to another, trying to figure out why her beautiful baby girl, Chelsea was getting sick all the time. It wasn't until she went to DC to meet with a genetisist that she got the answer she was looking for. She was waiting in the exam room and a man walked past her door, stoped and then continued walking past. That same man came back a few moments later with a napkin in his hand. He introduced himself at her geneticist and handed the napkin over to Judi and said, "I think this is what your daughter has this." The napkin said, Velocardiofacial syndrome, or as we know it today as 22q.
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Within this episode we discussed:
- VSD, aneurysm, right aortic arch, distorted aortic valve, cervical aorta
- Mitral valve prolapse is a type of heart valve disease that affects the valve between the left heart chambers.
- A cystic brain lesion is a fluid-filled sac in the brain that usual contains cerebrospinal fluid.
- 22q Family Foundation www.22qfamilyfoundation.org
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- DC Geneticist DR. Rosenbaum
- Kawasaki disease (KD), also known as Kawasaki syndrome, is an acute febrile illness of unknown etiology that primarily affects children younger than 5 years of age.
- The Positive Vibe Foundation
- "You were meant to change people's lives."
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Since the day Elijah was born his mom Sarah didn't feel that his breathing was typical. She shared her concerns with the medical staff but they told her not to worry and that Elijah's breathing was normal. Sarah knew in her gut that something was off and with each new diagnose her gut feeling became stronger and stronger. After 18 months of finding different diagnosis Elijah was finally sent to see genetics. As they were walking into the genetics appointment, the geneticist looked at Elijah and said, "Your son has 22q, I need to run all of these blood tests to confirm that."
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Within this episode we discussed:
- Bronchiolitis is a common lung infection in young children and infants. It causes swelling and irritation and a buildup of mucus in the small airways of the lung. These small airways are called bronchioles. Bronchiolitis is almost always caused by a virus. Bronchiolitis starts out with symptoms much like a common cold.
- Torticollis is a condition where your baby's neck muscles cause their head to twist and tilt to one side. It may look like your infant's neck is rotated at an odd angle. The top of their head may be tilted to one side and their chin may be tilted to the other side. Torticollis is also called wryneck.
- Tethered spinal cord syndrome is a neurologic disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. This syndrome is closely associated with spina bifida.
- Bronchomalacia is a problem with the cartilage in your lungs, leading to wheezing and trouble breathing.
- PDA is a heart defect found in the days or weeks after birth. It occurs because a normal fetal connection between the aorta and the pulmonary artery does not close as it should after birth.
- Left ventricular hypertrophy is a thickening of the wall of the heart's main pumping chamber. This thickening may result in elevation of pressure within the heart and sometimes poor pumping action.
- Ear tubes are tiny, hollow cylinders that are surgically inserted into the eardrum. This opening enables drainage of the middle ear, allows air to flow into the middle ear and prevents the buildup of fluids behind the eardrum.
- Gastroesophageal reflux (GER) happens when your stomach contents come back up into your esophagus. Gastroesophageal reflux disease (GERD) is a more severe and long-lasting condition in which GER causes repeated symptoms or leads to complications over time.
- Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from your stomach to your small intestine, even though there is no blockage in the stomach or intestines.
- 22q Family Foundation www.22qfamilyfoundation.org
- Joseph Piccione, DO, MS, is the Pulmonary Director for the Center for Pediatric Airway Disorders and an attending pulmonologist at Children’s Hospital of Philadelphia who cares for children with airway disorders.
- Sarah on Instagram @sarah51884
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
In July of 2021, Summerly and her husband sat in Izzy’s hospital room for 18 days feeling overwhelmed, scared, sad, anxious, nervous, guilty, confused, tired, numb, and unheard, but in September, as they drove to one of her outpatient appointments, they decided to turn those negative feelings into something positive. So… a conversation became an idea, and they created a website www.my22qt.com . Their daughter, Izzy Snow, is the inspiration behind all of this as she was diagnosed with 22q11.2 deletion syndrome at 22 days old. While her dad and I were not familiar with this diagnosis, we quickly became very aware – aware of the facts, aware of the scares & challenges, and aware that a lot of people aren’t aware. A diagnosis may define a lot, but it doesn’t define love, and it doesn’t have to define life. Their mission is to raise awareness that this genetic disorder needs but severely lacks, to educate others & help diagnosed families cope, and to pay it forward to the genetics division of Akron Children’s Hospital for expansion in research & services, as genetic departments are the least profitable aspect in the medical world. Summerly states that 22q11.2 is not just random numbers & letters. It is someone’s story, someone’s life, someone’s face. And for their family, it is Izzy. She is their 22q11.2 cutie.
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Within this episode we discussed:
- www.my22qt.com
- 22q Family Foundation www.22qfamilyfoundation.org
- Seizures due to low calcium and phosphate levels
- Akron Children's Hospital
- Summerly on Instagram @my22qt
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Aine Lawlor enjoys spending time with her dog honey, playing Tenpin, writing poetry, reading, crushing it at the gym and staying connected to her 22q community. She lives in Ireland with her mom and today shares her perspective of what it is like living with 22q.
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Within this episode we discussed:
- Special Olympics Ireland - TenPin Bowling
- Shannon O'Keefe - Professional Bowler Team USA 15 x PWBA Champion 3 x PWBA Player of the Year 8 x World Champion @shannonokeefe800
- 22q Family Foundation www.22qfamilyfoundation.org
- Rare Diseases Ireland - a patient advocacy national alliance for voluntary groups representing people affected by or at risk of developing a rare disease.
- 22q11 IRELAND - At 22q11 Ireland, we aim to provide lifelong support for those impacted by 22q11. www.22q11ireland.org
- Book - Can't Hurt Me: Master Your Mind and Defy the Odds By: David Goggins @davidgoggins
- Book - The Rock: Through the Lens: His Life, His Movies, His World @therock
- Aine Lawlor on Instagram @aine.lawlor
If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at 22qpodcast@gmail.com. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
Instagram - @22q.podcast
Facebook - @22qpodcast
Email - 22qpodcast@gmail.com
#22qpodcast
Courtney and her husband were at one of her routine high risk pregnancy OBGYN appointments when the doctor began measuring all of her babies features. The doctor then confirmed that they were pretty certain that their child had 22q. At the time Courtney and her husband were terrified because this babies was their rainbow baby. Courtney had had four miscarriages prior to this one so they wanted to make sure that little baby Jude was going to be alright. This was the beginning of Jude and Courtney's 22q story.
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Within this episode we discussed:
- Truncus arteriosus is a birth defect of the heart. It occurs when the blood vessel coming out of the heart in the developing baby fails to separate completely during development, leaving a connection between the aorta and pulmonary artery.
- CHOP Children's Hospital of Philadelphia
- soft cleft palate repair - A cleft palate usually is repaired with surgery called palatoplasty (PAL-eh-tuh-plass-tee) when the baby is 10–12 months old. The goals of palatoplasty are to: Close the opening between the nose and mouth. Help create a palate that works well for speech.
- EOE - Eosinophilic esophagitis (EoE) represents a chronic, immune/antigen-mediated esophageal inflammatory disease associated with esophageal dysfunction resulting from severe inflammation.
- Cyproheptadine, an antihistamine and antiserotonergic agent, is an appetite stimulant that is efficacious in promoting weight gain in children and adults with poor appetite. Despite numerous studies showing that cyproheptadine achieved positive outcomes, studies documenting its effectiveness on appetite are limited. Appetite stimulants are medications prescribed to increase appetite and improve the nutritional status of patients experiencing severe weight loss associated with certain chronic illnesses.
- The Wellness Collective Amy Jolley social emotional awareness - Holistic Mental Health & Well-being Sessions
- OUTSHINE LABELS - "Hey Jude" Apparel
- 22q Family Foundation
Peter Mason lives his life to the beat of his own drum. His love for Drum Corps. runs deep within his family and he is also an artist, culinary student, foodie and lover of all board games. He shares his optimistic outlook on life and what it is like living with 22q. He has had over 40 surgeries to date, including open heart surgery at 9 years old. He is a 22q warrior and I am honored to introduce you to Peter.
Within this episode we discussed:
- Drum Corps. - Connecticut Patriots and the Ameri-Clique.
- Montefiore Medical Center
- Connecticut Children's Hospital
- A cornea transplant is an operation to remove all or part of a damaged cornea and replace it with healthy donor tissue. A cornea transplant is often referred to as keratoplasty or a corneal graft. It can be used to improve sight, relieve pain and treat severe infection or damage.
- Ventricular septal defect (VSD) is a birth defect of the heart where there is a hole in the wall that separates the two lower heart chambers.
- Keratoconus (ker-uh-toe-KOH-nus) occurs when your cornea — the clear, dome-shaped front surface of your eye — thins and gradually bulges outward into a cone shape. A cone-shaped cornea causes blurred vision and may cause sensitivity to light and glare. Keratoconus is a progressive disease that can cause vision loss.
- Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness.
- 22q Family Foundation
- International 22q11.2 Foundation
The way that Tiler found out about her daughter, Tanner's 22q diagnosis is incredible. Two days after Tanner was born, Tiler was sitting next to her daughters crib in the NICU when a geneticist walks by and stopped to take a better look. She introduced herself and said that she had just returned from a conference overseas for DiGeorge syndrome. She informed Tiler that her baby had many of the same features that most patiences with DiGeorge syndrome have and that she should get a genetic test done right way. This was the beginning of Tiler and Tanner's 22q Journey.
Within this episode we discussed:
- Hemitruncus is a rare congenital anomaly in which one pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, whereas the main pulmonary artery and the other pulmonary branch arise in their normal position.
- G Tube
- UCSF Benioff Children's Hospital
- RSV - Respiratory syncytial (sin-SISH-uhl) virus, or RSV, is a common respiratory virus that usually causes mild, cold-like symptoms.
- Ear tubes are tiny, hollow cylinders that are surgically inserted into the eardrum. This opening enables drainage of the middle ear, allows air to flow into the middle ear and prevents the buildup of fluids behind the eardrum
- CalmiGo is a patented technology-based device that provides immediate drug-free relief in moments of anxiety, stress, and panic attacks.
- BOOK - Quinn Bradlee - A Different Life: Growing Up Learning Disabled and Other Adventures
- The Lab School - Washington DC
- 22q Family Foundation
- SONG - Pink - "I Am Here"
Kyle was taking a test in school when all of a sudden his nose started to bleed. He tried to stop it but no matter what he did it wouldn't stop. He was then rushed to the ER where he over heard his mother mention to the doctor that her son had 22q. He looked at her and asked what that was and that is when she said, it is a genetic disorder that you have. On todays episode I am honored to introduce you to Kyle Lynch who is a producer, pianist and optimistic soul living with 22q. He shares what life is like living with his 22q and how he manages the ups and downs. He is extremely talented and we have one of his beats at the end of this episode for you to hear his work. I am so honored to introduce you to Kyle.
In this episode we discussed:
- Defo Studios - Beat Mixing App
- Exoplanet Exploration Program - NASA's Exoplanet Exploration Program, the search for planets and life beyond our solar system.
- @lynbeats - YouTube
- Immune thrombocytopenia (ITP) is a type of platelet disorder. In ITP, your blood does not clot as it should, because you have a low platelet count. Platelets are tiny blood cells that are made in the bone marrow. When you are injured, platelets stick together to form a plug that seals your wound.
- Intravenous immune globulin (IVIG) is a treatment for immune thrombocytopenia (ITP). IVIG is given by IV infusion over several hours. IVIG works to slow down the destruction of platelets.
Lindsey Garcia was driving her two year old daughter home when she received a phone call from her geneticist. They confirmed that the baby boy, that was still growing inside of her had 22q deletion syndrome. Through waterfall tears she made it home and was overwhelmed with sadness. As a type A planner, she hadn't prepared, nor could prepare for this sort of diagnosis and it was terrifying at the time. This was the beginning of Lindsey and Cohen's 22q journey.
In this episode we discussed:
- 22q Family Foundation and all of the wonderful support they provide for 22q individuals and families. www.22qfamilyfoundation.org
- 22Q11.2 EDUCATION STATION CONSULTING
- 22Q FAMILY FOUNDATION CAREER PATHWAYS - COACHING
- THE RILEY DEMPSTER 22Q FAMILY FOUNDATION SCHOLARSHIP
- 22Q MINI AWARENESS PAMPHLETS
- 22Q DELETION: A TEACHERS REFERENCE
-
rockyourq - awareness # campaign
- DONATE & SUPPORT the 22q Family Foundation
- @22qfamily - FACEBOOK, INSTAGRAM, TWITTER
- 22q Store - Outshine Labels
- A LETTER FROM 22Q PARENT, RYAN DEMPSTER
- VSD - A ventricular septal defect (VSD) is a birth defect of the heart in which there is a hole in the wall (septum) that separates the two lower chambers (ventricles) of the heart.
- FEEDING - NG Tube, GJ Tube, Reflux, Blenderized liquid diet
- Homemade Blended Formula Handbook
- Functional Formularies - NOURISH - Organic Blended Food Pouches / Can also be found on AMAZON
- An eardrum rupture, known as a tympanic membrane perforation, is a small hole in the eardrum that results from the patient manipulating the ear with a foreign object (Q-tip), a severe infection, or after tympanostomy tubes extrude. While present, a perforated eardrum results in reduced hearing.
Drew was by Gabe's side in the NICU after he was born and over heard the doctors during their rounds. They mentioned that due to Gabe's tetralogy of fallot, Spina Bifida and a few other concerns that they would be testing him for 22q. This was the first time our family ever heard of this genetic syndrome. During this episode my husband and I share our son's 22q journey, from both parents perspective.
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Within this episode we discussed:
- ETV/CPC Hydrocephalus Procedure - endoscopic third ventriculostomy (ETV) and choroid plexus cauterization procedure (CPC).
- Ureteral Reimplant surgery
- Tetralogy of Fallot
- 22q Family Foundation
- Spina Bifida Association of Greater New England
- Something The Lord Made - Movie about tetralogy of fallot
- Book - Death Be Not Proud - By: John Gunther
- Book - The Road - By: Cormac McCarthy
- Book - Once More We Saw Stars - By: Jayson Greene
- Book - When Breath Becomes Air - By: Paul Kalanithi
For Criss Madrigal her 22q journey had double the love, struggles and joy. She is the lucky mom of not one but two amazing 22q twin girls, Celeste and Alexia. Within this episode she shares her difficult pregnancy and what it is like navigating her 22q cuties times two. She also shares how she became a life coach and how she learned the important lesson of taking care of yourself and putting yourself first.
We discussed in this episode:
- Vision Therapy
- Here is the link for the one page Meet My Child handout for school: https://criss-madrigal.mykajabi.com/meet-my-child-template
- To connect with me, people can find me on Instagram at @crissmadrigal
- I also have a FB group The Unstoppable WoMoms, which is all about putting ourselves first as woman, to then be able to show up as an incredible mom, WoMom! This is where I drop weekly content on transformational mindset coaching.
- https://www.facebook.com/groups/1057943258414035/?ref=share
In 1983 Mickey was born and as a baby had many complications. His mother Susan was a nurse and always felt something was different about Mikey. It wasn't until one day while Susan was reading an article about Williams Syndrome that she thought she had found the diagnosis for her son. She set up an appointment at the genetics office and after completing there exam they determined that Mikey had 22q deletion syndrome. Susan retuned home and immediately started conducting her own research on the internet. As she read through the information she knew it was true. She saw so many comparisons that matched and for her it gave her a sense of total relief.
Within this episode we discussed:
- 22q Mom, Author of "Yearning for Normal. My Son's Life with 22q.11" shares her son Mike's 22q journey.
- BOOK - Yearning for Normal
- www.susanellisonbusch.com
- “You're not just ever fighting for your own kid. You are fighting for all the other kids that are going to come behind you.”
- Chronic Sorrow - The chronic deep pain that parents of disabled or chronically ill children live with. The loss of the expected child. Even though you love your child deeply.
- NAMI - National Alliance on Mental Illness
- "Ring the bells that still can ring. Forget your perfect offering. There is a crack in everything. That’s how the light gets in." ~ Anthem by: LEONARD COHEN
Sibil was induced at 35 weeks and successfully delivered her first son, Andrew. 9 days later he had his anticipated open heart surgery to repair his tetralogy of fallot with pulmonary atresia and it went beautifully. As Andrew was recovering in the NICU a geneticist entered and shared with Sibil and her husband that their son had 22q. They then met with a team of doctors who could explain what this meant for their son. Feeling overwhelmed, Sibil returned to her baby's side in the NICU. She picked Andrew up and he looked her straight in the eyes. It was in that moment, gazing into her baby boy's eyes that she felt so much comfort. That is when she knew he was going to be alright. This was the beginning of Sibil and Andrew’s 22q journey.
Within this episode we will discuss:
“Being in the asian and Indian community there is a lot of stigma about being different or having any medical diagnosis there is shame. People don’t know how to react to someone sharing things.”
“Culturally there is this silence and lack of understanding. But people want to support you but you need to ask yourself are you giving them the tools and the information in order to do that?”
“Share your story and don’t be ashamed. Look beyond the diagnosis. It is part of your child's life and story.”
CHOP - Children’s Hospital of Philadelphia 22q and You Center
Tetralogy of Fallot (TOF) with pulmonary atresia is a more severe form of TOF, a type of heart defect. It's a congenital condition, which means it's something a baby is born with. Babies who have TOF with pulmonary atresia have five heart abnormalities: Ventricular septal defect (VSD)
GERD - Acid reflux is also known as gastroesophageal reflux (GERD). In addition to frequent heartburn, symptoms of GERD include difficulty swallowing, coughing or wheezing, and chest pain.
Feeding tube and breastfeeding guilt and shame.
PTSD from feeding / guilt
Cyclist blocking 80% of his airway.
Submucous cleft palate (SMCP) happens when the roof of the mouth, or palate, doesn't form properly when a baby is developing in the womb.
Tonsils removed
Educating others about differences and 22q.
“As you are finding your voice for your child you are finding your voice for you.”
“Let your child lead you.”
For any parent, trying to navigate the education system can be challenging and overwhelming at times. Especially if you have a child with 22q. But we are fortunate to have Donna Cutler-Landsman in our corner. Donna has over 35 years of classroom experience and has worked with children with and without learning challenges. She is the author of an excellent book called, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, now in its third edition. This book and her knowledge has helped thousands of families and educators navigate this unfamiliar world.
We discussed what are the most common learning challenges a child with 22q will face? Donna went over executive function/planning, difficulty in mathematics, reading comprehension, social cognition issues and anxiety. Donna shares a few of the best learning practices for most 22q students; which are hands on experiential learning, small group setting to re explain material, repetition and direct instruction are key. Donna also explained that learning with 22q may be delayed but it continues throughout a lifetime and not to get discouraged. She also shares a little bit about her adult son, living with 22q.
“That kids with 22q can learn.”
"This is a hidden disability. "
To learn more about her services, see her website www.cutler-landsman.com
Email Donna at: cutlerlandsman@gmail.com
VCF Cirtual Center - education advocacy and offers support - https://www.vcfscenter.com/
Donna Cutler-Landsman, MS, is an educator with a master s degree in counseling psychology who has spent over thirty-five years in the classroom teaching children in grades five through eight, and an advisor to the gifted and talented program in the Middleton Cross Plains Area School District in Wisconsin. In addition, she founded Cutler-Landsman Consulting, LLC and has served as a cooperating teacher with the School of Education, University of Wisconsin-Madison for fifteen years. Donna currently offers targeted special education advocacy for children with complex medical and learning needs from birth through adulthood. She is a past president of the VCFS Educational Foundation, serves on the 22q International Foundation board, and consults for the 22q Family Foundation and the VCFS Virtual Center. She is a popular speaker and advocate on issues related to the 22q11.2 Deletion Syndrome and education throughout the United States and abroad.
Gracie Chavez is the youngest of 5 siblings, owns her own florist business, loves legos, enjoys hanging out with family and she also has 22q. Her parents found out about her diagnosis when she was 2 but it wasn't until she was 20 when she began experiencing heart issues. This is what caused her to seek out more information about her 22q.
Within this episode we discussed her dreams, struggles and how she told the world that she had 22q.
Gracie's Outshine Labels Merch
Cleveland 22q Clinic
22q Family Foundation
Quotes from Gracie ~
“This is my journey and I love it.”
“You are going to have hard days, but those days are going to turn into sunshine.”
“You still can do great things.”
Instagram - @gracie_reneeee
At three and a half years old Nate was having recurring ear infections which brought them to a well respected ENT office. They were waiting for the doctor to return with his residence and when he did he was carrying a large medical textbook. He walked over to Eileen, handed her the book, pointed at the words ‘Digeorge Syndrome’ and said “I think this is what Nate has.” In a complete state of shock Eileen returned to her car and began to cry, not knowing what this meant for her son. In that moment she was battling two emotions. Relief that she finally had an answer and guilt for not figuring out Nate’s diagnosis sooner. This was the beginning of Eileen and Nate’s 22q journey.
Throughout this episode Eileen shares her balance of gratitude and grief as a special needs parent. She also shares how she was able to help Nate’s speech and feeding concerns earlier on because she is a speech pathologist.
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Within this episode we discussed:
- Dragonfly Forest 22q Summer Camp
- For the next 3 and half years he just started having “A little bit of everything: - but nothing so severe that any red flags were raised. Constipation, Reflux - nasal regurgitation, Issues with finding the right formula, Slower weight gain, Sick a little but more than his sister, Walking difficulties, had low tone, feet turned in, Early speech sounds were off - but I could work with him on that.
- Nationwide Children’s Hospital Ohio 22q Clinic
- 22q Family Foundation
- Velopharyngeal insufficiency (VPI) occurs when the seal between your oral and nasal cavities doesn't close completely. The condition is often associated with palate defects or genetic disorders.
- Partial tonsillectomy entails subtotal removal of tonsillar tissue, leaving a margin of tissue on the tonsillar capsule, which may speed healing and reduce pain and inflammation.
- Ear Tubes surgery - a small hole is made in the eardrums and the tubes are inserted.
- Dilated aortic arch aneurysm is a bulge in the portion of the aorta closest to the heart located away from the heart and can involve the blood vessels that supply to your head and neck.
- Hypocalcemia is a treatable condition that happens when the levels of calcium in your blood are too low.
- Getting out of the mindset of always looking for deficiencies and what needs to be improved.
- Balancing grief and gratitude.Grief and gratitude
- "Learning with him"
Since the day Ben was born Kristine had this gut feeling that something was slightly different about her son. Whether it was his facial features being smaller, his reflux when he ate, constant eye infections, respiratory problems, ear infections, how small he was or how delayed he was with all of his developmental milestones. This prompted her to start seeking answers. Her pediatrician would dismiss her concerns and simply say, “all children are different.” But Kristine didn’t agree and spent 2 years trying to find a diagnosis. Finally, when Ben was 4 years old she received his genetic testing and learned that he had 22q. Once Kristine received this diagnosis she felt an unworldly peace. She was thankful to understand what all of these different symptoms could finally be attributed to. This was the beginning of Ben and Kristine’s 22q journey.
Throughout this episode Kristine shares her struggles with mental illness and the uncertainty of what Ben's life will look like once he grows up. She also shares how important it is try one more thing and don't make your mind up about your child.
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Within this episode we discussed:
- Atrial septal defect (ASD) is a hole in the heart between the upper chambers (atria). The hole increases the amount of blood that flows through the lungs.
- Two-vessel umbilical cord - Most babies’ umbilical cords have three blood vessels: one vein, which brings nutrients from the placenta to baby, and two arteries that bring waste back to the placenta. But a two-vessel cord has just one vein and one artery — that’s why the condition is also referred to as having a single umbilical artery. Many heart defect children have this.
- Velopharyngeal insufficiency (VPI) occurs when the back part of the roof of the mouth (soft palate) and the pharynx (throat) don't work together to make a good seal when your child is talking. This is often caused by a soft palate that is too short or muscles of the palate that do not work well.
- Strabismus, also known as hypertropia and crossed eyes — is misalignment of the eyes, causing one eye to deviate inward (esotropia) toward the nose, or outward (exotropia), while the other eye remains focused.
- Heart surgery- laparoscopically - The GORE® HELEX® Septal Occluder is an approved medical device indicated for the transcatheter closure of atrial septal defects (ASDs).
- Mental Health - Medication for hallucinations and delusions, generalized anxiety, obsessive compulsive disorder.
- Pharmacogenomics looks at how your DNA affects the way you respond to drugs. In some cases, your DNA can affect whether you have a bad reaction to a drug or whether a drug helps you or has no effect.
- Generalized neonatal hypotonia implies a pathologically decreased postural tone involving at least the extremities, trunk and neck occurring during the first month of life.
- Furlow Palatoplasty - to fix his EPI - Made his sleep apnea worse -This procedure involves a plastic surgical technique, which was traditional used for cleft palates, to lengthen and thicken the soft palate and realign abnormal placement of the palatal muscles in order to allow the palate touch the back of throat naturally.
- BOOK - Abilities In Me 22q
- BOOK - Donna Cuttler Landsman - 22q Special Education Advocacy Expert
It was their 4th day in the hospital and Laura and her husband were rolling their baby girl, Zuri, down to her first barium swallow study. They were trying to figure out why she was having so many feeding difficulties. As they reached the hospital elevator Zuri’s doctor ran to join them because he had her genetic test results. As the elevator doors closed the doctor informed them that Zuri had something called Digeorge Syndrome. This was the beginning of their 22q journey.
Throughout this episode Laura shares her moments of feeling like the "crazy mom", questioning doctors and searching for answers for her daughter who would not stop throwing up. She also shares how the doctors missed Zuri's tetralogy of Fallot in utero which almost killed her during delivery.
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Within this episode we discussed:
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Tetralogy of Fallot is a birth defect that affects normal blood flow through the heart. It happens when a baby’s heart does not form correctly as the baby grows and develops in the mother’s womb during pregnancy.
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VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
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Uterine rupture is spontaneous tearing of the uterus that may result in the fetus being expelled into the peritoneal cavity. Uterine rupture is rare. It can occur during late pregnancy or active labor. Uterine rupture occurs most often along healed scar lines in women who have had prior cesarean deliveries.
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A nasogastric (NG) tube is a thin, soft tube that goes in through the nose, down the throat, and into the stomach. They're used to feed formula to a child who can't get nutrition by mouth. Sometimes, kids get medicine through the tube.
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A gastrostomy tube, often called a G-tube, is a surgically placed device used to give direct access to your child's stomach for supplemental feeding, hydration or medication.
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Anoplasty is a simple outpatient procedure that can be used to relocate the mild forms of anterior ectopic anus.
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Nissen fundoplication. In this procedure, the surgeon wraps the top of the stomach around the lower esophagus. This reinforces the lower esophageal sphincter, making it less likely that acid will back up in the esophagus.
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The vagus nerve also called the pneumogastric nerve, is responsible for various internal organ functions, including: digestion, heart rate, breathing. cardiovascular activity, reflex actions, such as coughing, sneezing, swallowing, and vomiting. It plays a role in the autonomic nervous system, which controls actions people do unconsciously, such as breathing and digestion.
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Uncontrollable retching, non stop.
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Grand mal seizure causes a loss of consciousness and violent muscle contractions.
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VPI clinic Stanford children's hospital in sioux falls
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VPI Injection not surgery.
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Denver 22q Clinic
Tara was celebrating her birthday at Disney Land and grabbing a bite to eat at Pizza Planet when her phone began to ring. It was the genetics office calling to give the results from her daughter, Emmalyn’s genetic test. She remembered thinking at that moment that if her daughter had 22q she didn’t want to know about it. She didn’t want her baby to be labeled or for others to look at her differently. Her husband told her not to answer but Tara did. The nurse on the other line confirmed that her daughter had 22q deletion syndrome. This was the start of Emmalyn’s 22q journey.
Throughout this episode Tara shares her and Emmalyn's 22q story. She shares how Emma was rushed into emergency open heart surgery at 6 weeks old, challenges with feeding and finding the best school environment for her daughter.
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Within this episode we discussed:
- Right Aortic Arch (RAA) is a type of aortic arch variant defined by the way in which the aortic arch travels to the right of the trachea. The aorta is the main artery that delivers oxygen rich blood to the body. The aortic arches form from the aortic sac and develop into several pairs of arches.
- 1% chance she will have this vascular ring - closes off the esophagus and makes feeding difficult.
- Vascular rings are malformations of the aortic arch in the main blood vessel that leads from the heart. Because of the malformation, the aortic arch and its branches partly or completely encircle the windpipe (trachea), the esophagus or both. The esophagus is the tube that leads from your mouth to your stomach.
- Cleft palate are birth defects that occur when a baby's lip or mouth do not form properly during pregnancy. The cleft palate was the reason Emma wasn’t able to keep anything down.
- Feeding reflux out her nose, could not keep anything down.
- Emergency 9 hour Open Heart Surgery at 6 weeks old, Emma was bleeding from 3 holes during her entire pregnancy.
- Tubes in the ears and over 50 ear infections.
- Cleft Palate repair and VPI. Steroids helped her after the surgery to allow her to swallow liquids and recover.
- Alternative Communication Tablet which allowed her to communicate and begin speaking on her own.
- Picky eater.
- IEP and school placement struggles to get all services covered.
- Dealing with PTSD from traumatic hospital experiences.
- Finding your support group.
"I know she has special needs but she is capable."
"She is the strongest person I know."
"She is a 1% chance kid now."
When Lindsay went in for her 20 week ultrasound she had no idea that she was going to find out much more than just the gender of her third child. As Lindsay laid on the exam table in her paper gown, with her husband and two children by her side, the doctor informed them that their new baby boy had hypoplastic left heart syndrome (HLHS) and his odds of survival were not good. That baby is now 7 years old and his name is Lincoln. This was the beginning of their 22q journey.
Throughout this episode Lindsay shares her and Lincoln’s 22q story. She shares how she struggled to keep him alive during the first 2 years, all the operations, feeding struggles and how she learned how to advocate for her son.
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Within this episode we discussed:
- Hypoplastic left heart syndrome (HLHS) is a heart condition that develops before birth (congenital). The left side of a baby's heart doesn't form right. This keeps blood from flowing through their heart in a normal way. Pediatric cardiologist - Dr. Anne Farrell, MD in Indianapolis, IN
- Shone's complex is a congenital (present at birth) heart disease. It affects how blood flows both into and out of the left side of the heart.
- Ronald McDonald House
- Feeding - Lincoln’s feeds were ok but he was having a hard time keeping down his feeds. The doctors wanted to send Link home on an NG tube but she did not. Nasal reflux - all came out his nose, sometimes choking, concerned about aspiration phenomena.
- Constipation - Rectal surgery needed.
- 22q Family Foundation
- Velopharyngeal insufficiency (VPI) occurs when the back part of the roof of the mouth (soft palate) and the pharynx (throat) don't work together to make a good seal when your child is talking. This is often caused by a soft palate that is too short or muscles of the palate that do not work well.
- FLAP REPAIR Surgery Posterior Pharyngeal Flap is a surgery done to help correct velopharyngeal dysfunction
- Cincinnati 22q clinic
- Tethered cord release surgery is a type of surgery to reduce or remove the tissue that is preventing the spinal cord from moving freely. Found during an MRI and if they hadn’t found this then Lincoln never would have been able to potty train. The reason being he wouldn’t have been able to hold a full bladder so they did a surgery to correct it.
- Low tone - Feeding is a concern. Choking is always a concern
- Helpful School App - SnapType Pro - allows teachers to take a photo of a worksheet and allows students to then use the Ipad to complete the worksheet on the ipad.
Welcome to the 22q podcast. This is a space to share, learn and unite the 22q community and to remind all of us that we are not alone. We will be interviewing parents and caregivers who are raising 22q kiddos and share their struggles, joys and how they navigate this complex medical world. Hear from experts in the field of 22q, from doctors and educators and last but not least hear personal perspectives from individuals living with this syndrome.
22q11.2 deletion syndrome is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect any system of the body, and can be presented in a unique set of over 180 different symptoms. This is what makes 22q so difficult for even the best doctors to recognize. Currently, 22q syndrome occurs in approximately 1 out of every 2,000 live births and it is believed to be the second most common genetic disorder behind Down's Syndrome, yet most have never heard of it!
So come along with me, Becky White; a 22q mom, and let's learn more about 22q together on the 22q podcast.
22qpodcast@gmail.com