Patient Stories with Grey Genetics: Recent Episodes
Grey Genetics
Genetics isn’t always black and white. And the emotions and decisions surrounding genetic testing can be even more complex. Hosted by genetic counselor Eleanor Griffith, the show brings you the personal experiences of patients and genetic counselors.
Nadia Billous is a mother of two young sons, including 9-year-old Andryusha who was diagnosed with GRIN2B-related neurodevelopmental disorder. Nadia and her family are Ukrainian and lived in Kyiv at the time of Andryusha’s birth. At first, he was a typical, healthy baby but began to have some alarming symptoms around 3 months of age which led to a 7 year odyssey to identify this rare diagnosis. Andryusha was receiving therapies and interventions to help him gain strength and prove his quality of life which were abruptly impacted by the war in Ukraine. In this episode, Nadia talks about her life as a parent of a child with GRIN2B, the remarkable support her family received from the GRIN2B Foundation and rare disease community.
Nadia was interviewed by guest host Kristina Inman, a second year genetic counseling student. An interpreter assisted with this interview.
Related Resources
CureGRIN
Grin2B Foundation
Donate to help support Nadezheda & her family
Read Nadia’s story here
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
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Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
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Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
While Carlos was studying Biology in the U.S., his father was diagnosed with Philadelphia Chromosome positive Acute Lymphocytic Leukemia (Ph+ALL) in Mexico. The same condition which he’d just learned about in school and had captured his intellectual curiosity was also now very personal. Carlos shares how genetic testing opened up options for his father’s course of treatment but also introduced myriad decisions to be made about his father’s care, the burden of which fell almost entirely upon his mother. He discusses how he thinks a genetic counselor could have helped the family through these many decisions and also shares his perspective on the importance of end of life care.
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Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
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Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
A couple gets engaged. They are both of Ashkenazi Jewish ancestry and read that carrier testing is recommended. They rightly assume that the most likely outcome is that they will not be carriers for the same condition. The results are a shock: Both are carriers for Mucolipidosis Type IV. They know they will use this information to inform their family planning decisions, but for years they vacillate between the expensive and involved option of IVF with preimplantation genetic diagnosis (PGD) or rolling the dice: trying to get pregnant naturally and pursuing prenatal testing, with the knowledge that a positive result for them would mean an abortion.
Related Resources
The Norton & Elaine Sarnoff Center for Jewish Genetics
Mucolipidosis Type IV Foundation
Have thoughts or a related story you’d like to share?
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Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
When Layla was pregnant, she knew there was a 1 in 4 chance that her child would have Sickle Cell Disease. Routine newborn screening was done in London when Suki was 5 days old. She would be notified soon if her daughter Suki had Sickle Cell Disease, or even if she was a carrier and had Sickle Cell Trait. Like other parents, Layla was told that no news was good news. She was relieved. Then, when Suki was a month old, there was a knock at the door: Layla was told that Suki did have Sickle Cell Disease. She was handed pamphlets and told that Suki would have an appointment at the hospital when she was 3 months old. Layla shares how their world changed and what her experience with motherhood has been like. She also shares how racism has impacted Suki’s care, specifically during Covid-19, when Suki received care at a different hospital from where she is normally cared for by a dedicated team.
Links and Resources
Follow Suki on Instagram: @suki_lawson
Follow Layla on Instagram: @layls.x
Sickle Cell Society (UK)
Sickle Cell Disease Association of America
Addressing Health Disparities in Sickle Cell Disease. Interview with Barbara W. Harrison, MS, CGC. December 15, 2020. Genotypecast Podcast.
Listen to another interview with a young woman who has sickle cell disease: Invisible and Unpredictable. Interview with Mary Adenturinmo. September 25, 2018. Patient Stories Podcast.
Have thoughts or a related story you’d like to share?
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Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Do you want to support Patient Stories? You can make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Munique had suffered from pain since she was 4 years old, but it wasn’t until she was 15 years old that she finally received a diagnosis that explained why: Fabry Disease. After seeing multiple doctors, she, her father, and multiple other family members were finally diagnosed with Fabry Disease at the same time.
In Brazil, treatment for Fabry was difficult as having a preexisting condition prevented her from getting health insurance. Although Brazil also has public universal healthcare, Fabry Disease was not recognized as a disease, meaning that a court battle was necessary to obtain coverage for treatment and specifically for the Enzyme Replacement Therapy (ERT) required to treat Fabry. Munique and other family members did successfully work with a lawyer to receive ERT. But the medication would then be periodically cut-off, requiring repeated returns to the courts for each interruption in treatment.
After 10 years of struggling to receive care and after losing her father to Fabry when he was only 46 years old, Munique moved to the U.S., where her husband has family connections and where she now receives consistent ERT as well as care from the multiple specialists needed to care for people with Fabry Disease. Munique shares the challenges of finding a diagnosis, how Enzyme Replacement Therapy has improved her life, and how the symptoms of Fabry Disease have made it that much harder to adjust to life in a new country and to make friends.
Links and Resources
National Fabry Disease Foundation
Munique’s Facebook page: https://www.facebook.com/ladyfabry
Follow Munique on Instagram: @unic42
Have thoughts or a related story you’d like to share?
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Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Do you want to support Patient Stories? You can make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Silvia’s son Nicky was born with a devastating condition called Epidermolysis Bullosa (EB). On her websites and in her books, she describes his skin as fragile as a butterfly’s wing which can blister at the slightest touch, causing pain and scarring and leading to disfigurement and disability. Today Nicky is 24 years old. Silvia shares how her perspective on Nicky’s diagnosis was shaped by her previous experience of delivering a stillborn son at full term. She tells her story of caring for and advocating for a child with a rare disease, building a supportive community online in the early days of the internet, and recent efforts that give her more hope for the needed cure for EB.
Links and Resources
EB Info World
Silvia’s blog
Butterfly Talk: Silvia’s YouTube channel where she talks with other moms about coping and celebrating their kids with EB
Books by Silvia Corradin:
Butterfly Child: A Mother’s Journey: Silvia’s book about Nicky, his life with EB, and her journey as his mother
Living With Epidermolysis Bullosa: A compilation of stories written by families touched by EB
Losing Alex: The Night I Held An Angel: Silvia’s story of her experience with her first son Alex, who was stillborn at full term.
Special Mommy Chronicles: A compilation of columns written by Silvia, offering insights, stories and struggles that go along with raising special kids.
Have thoughts or a related story you’d like to share?
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Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
As a junior in high school, Mikaela played varsity softball. When her performance started to decline and she wasn’t feeling well, she was initially told she likely had an ear infection. The second doctor she saw ordered a brain MRI to rule out a possible brain tumor. The third doctor she saw ordered a full body scan to rule out the possibility of additional tumors. Within a few weeks, she’d had multiple surgeries to remove tumors in her brain, neck, and spine and had a diagnosis of Von Hippel-Lindau syndrome. Mikaela shares how her diagnosis, multiple surgeries, and resulting chronic pain and nerve damage have impacted her life, first as a teenager and now as a young adult and how she is learning to balance living with a rare disease without letting it limit her.
Links and Resources
VHL Alliance
Aware of Angels
Miracle’s for Mickey (Mikaela's Blog)
Follow Mikaela on Instagram: @MikaelaGage7
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Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Collect and share your family history through the FamGenix app.
At her 20 week ultrasound, Chelsea learned of a likely diagnosis of Trisomy 18. Her Non-Invasive Prenatal Screening (NIPS) results then also came back positive for Trisomy 18. Chelsea and her husband Doug felt tremendous pressure from the genetic counselor and many doctors involved in her care to pursue amniocentesis. Chelsea and her husband sought out more information about the diagnosis on their own (with the help of #Trisomy18) and eventually made the decision to move from their home in Louisville, KY in order to receive prenatal and postnatal care from a supportive care team in Cincinnati. Chelsea’s daughter Stella had a better prognosis than many children with Trisomy 18 yet still lived just 39 days. Chelsea and her family treasured their time with her and still love seeing The Stella Effect—how Stella has impacted so many lives. They have recently set up a nonprofit in this name.
Links and Resources
Follow The Stella Effect on Social Media
Instagram: @TheStellaEffect
Facebook: @TheStellaEffect
SOFT - Support Organization For Trisomy
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Collect and share your family history through the FamGenix app.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Brianne Kirkpatrick returns to the podcast to give us an update on changes in direct-to-consumer (DTC) and ancestry genetic testing over the past two years. Some of the biggest changes: a greater awareness of privacy concerns and more resources and support for those affected by unexpected DNA discoveries.
Brianne Kirkpatrick is a licensed and certified genetic counselor and the founder of Watershed DNA. She provides online group and 1 to 1 support for individuals affected by unexpected DNA discoveries. Brianne is a co-author of The DNA Guide for Adoptees and is currently working on her second book, one for individuals involved in surprise DNA family discoveries.
Related Resources
Listen to the Dec 2018 interview with Brianne: “To Gift or Not to Gift that At-Home DNA Testing Kit?”
Find support through Watershed DNA
The Watershed DNA Mighty Network
Book an appointment with Brianne
Brianne’s blog
Watershed DNA Resources & DNA Surprise Stories
Follow Brianne on Social Media
Brianne on Twitter: @GCBrianne
Brianne on Instagram: @GCBrianne
Brianne on LinkedIn
Other NPE Support Resources
NPE Friends
Right To Know
npecounseling.org
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Mary had always experienced a lot of joint pain as a child. At fourteen, she realized that not everyone lived with chronic pain. As she got older, she had testing done to rule out a number of GI conditions and rheumatologic disorders. Two years ago, without finding an answer through doctors, she started doing research on her own and kept coming across the possibility of Ehlers-Danlos syndrome. Mary discusses the challenges to getting a diagnosis of EDS within our healthcare system, how a diagnosis has impacted her life and the care and referrals she receives from physicians, and how a diagnosis has given her permission to rest and take care of herself.
Links and Resources
The Ehlers-Danlos Society
Director of EDS-friendly specialists
Dougherty, Michael J. “Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public.” Am J Hum Genet. 2009 Jul 10; 85(1): 6–12.
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Collect and share your family history through the FamGenix app.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
When Kathryn graduated from Northwestern University's Graduate Program in Genetic Counseling in 2009, high-risk programs related to GI Cancer were new, as was universal tumor testing. Kathryn shares how she worked with GIs to build cancer/high-risk GI programs in multiple locations. She discusses the strength of a multidisciplinary approach to patient care and how she has seen the shift from tiered, step-wise testing to panels impact patient’s experience with genetic testing.
Schedule a genetic counseling appointment with Kathryn.
Related Resources
Pancreatic Cancer Surveillance Programs
Goggins M, Overbeek AO, Brand R. “Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.” Gut. 2020 Jan; 69(1): 7–17.
Aslanian HR, Lee JH, Canto MI. “AGA Clinical Practice Update on Pancreas Cancer Screening in High-Risk Individuals: Expert Review.” Gastroenterology. 2020 Jul; 159(1):358-362. Epub 2020 May 19.
NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer
The Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA)
Emily Richins and Chris Emineth connected through a Facebook support group for parents of children with Dravet Syndrome, a rare and severe form of epilepsy characterized by frequent, prolonged seizures, developmental delay, and other health problems. They share how Dravet has affected their lives and relationships, why the current Covid era is familiar and even easier for them, and what they’ve learned from one another and from their children.
Links and Resources
Dravet Syndrome Foundation
Make A Wish Foundation - kids with Dravet syndrome and other forms of epilepsy automatically qualify
Kids’ Waivers: information on Katie Beckett and other similar programs
Certified genetic counselor Jamie L’Heureux shares her personal story of trying to collect family history information surrounding her father’s diagnosis of Hypertrophic Cardiomyopathy (HCM), describing the challenges she encountered as well as obstacles to genetic counseling appointments and genetic testing. She also discusses how she is now using the FamGenix app as a strategy to both solicit family health history from her 13 paternal aunts and uncles and share the information with those same family members.
Links and Resources
FamGenix website (geared toward providers)
FamGenix app for Apple (in the iTunes Store)
FamGenix app for Android (in Google Play)
Indications for referral to cardiovascular genetic counseling
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Leslie Ordal, MSc, CGC, is a certified genetic counselor who specializes in psychiatric genetic counseling. Leslie discusses the importance of risk assessment and counseling over any genetic testing related to mental illness, of helping people to understand and adapt to the contribution of genetics to their health or that of their family.
Links and Resources
Follow Leslie on Twitter: @GenCounsNews
The Adapt Clinic
The Adapt Clinic on Twitter: @psychgenetcouns
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Chris Bombardier was born with a severe form of Hemophilia B. He was also an active, athletic kid, passionate about baseball. As a young adult, Chris became passionate about mountain climbing and set a goal of completing the Seven Summits (summiting the highest mountain on each continent). The recently released documentary, Bombardier Blood, follows Chris’s summit of Mt. Everest and provides a glimpse into what it’s like to live with hemophilia in Nepal, highlighting the disparity in health outcomes, depending on access to healthcare and to factor. Chris is now the Executive Director of Save One Life, a non-profit organization dedicated to empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
Links and Resources
Bombardier Blood website
Where to stream Bombardier Blood
Save One Life website
Follow Save One Life on Social Media
Instagram: @saveonelife
Twitter: @SaveOneLifeInc
YouTube
National Hemophilia Foundation
Hemophilia Federation of America
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes,or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
When Karen Fieri was 30 years old, she had trouble healing after a hysterectomy. The pain that followed eventually led to a diagnosis of Mitochondrial Myopathy, a metabolic condition caused by a mutation in mitochondrial DNA. Looking back, it was easy to see that she’d always had some symptoms of the condition and had assumed that many of the things she had experienced were just a normal part of growing up. Karen discusses her experience with doctors, the lifestyle changes she and her family have made to keep them healthy, and how she manages to stay positive while living with a chronic condition.
Links and Resources
Follow Karen on Instagram: @karenfieri
Follow Karen’s family farm on Instagram: @pickofthelitter and on YouTube
Read more about Mitochondrial Myopathy on MitoAction.org
United Mitochondrial Disease Foundation
MitoAction.org
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
After birth, Lucas spent ten days in the NICU due to a skull fracture he was born with. This was the window of opportunity for him to be diagnosed with Menkes Disease and receive treatment that would have meant a fairly normal outcome. Instead, Lucas went undiagnosed with this rare disease. His parents noted developmental delays at 4 months, regression at 8 months. At 9 months of age, Lucas finally saw a geneticist, and at 1 year of age he was diagnosed with Menkes Disease and given a life expectancy of 3-10 years. Lucas’ father Daniel describes Diagnosis Day as the shock event, the worst day of his life. He also describes how he and his family adjusted and found joy in their time with Lucas, who passed away at age 11 in June 2020. A filmmaker, Daniel co-founded the Rare Disease Film Festival and has now launched a related streaming channel, The Disorder Channel, which can be found through Amazon Fire and Roku.
Related Resources:
Menkes Disease: Finding Help & Hope: A ten-minute documentary about Daniel’s son Lucas
Menkes Foundation
Menkes' Families support group on Facebook
Courageous Parents Network
The Disorder Channel
Disorder: The Rare Disease Film Festival
Daniel’s interviews for the Once Upon A Gene podcast
Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes
Films and Fatherhood
Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival
Have thoughts or a related story you’d like to share?
Leave us a short voice message here! We may use your message on a future show.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Tiana Vega was born in May 2013. She was later to hit her milestones than her older sister, Aliya—but she kept hitting them. At 2 years of age, she finally learned to walk. Then she started to regress. When she was 2 ½ years old, she was finally diagnosed with Rett syndrome, an X-linked and progressive neurological disorder. Victor and Jeannette share their experience with receiving a genetic diagnosis for their daughter, how Tiana has impacted their life, and how they’ve found connection in the Rett syndrome and Rare Disease communities.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Related Resources
Rettsyndrome.org
Rett Syndrome Research Trust
Rett University: specializes in teaching teachers, parents, caregivers, doctors, family, friends how to teach folks with Rett syndrome to read and write. They also teach people with Rett one-on-one through private classes.
Girl Power 2 Cure: Rett Syndrome support organization that provides education tools, fundraising, and family support and connections
The Sibling Support Project
Other Related Links
Boodman, Sandra G. “She began to talk — then mysteriously fell silent. Months later her parents learned why.” Washington Post. October 12, 2019.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Last year, Maggie Chenard (aka “The Mindful NPE”) received ancestry testing as a gift from her adult children. Her results were not at all what she was expecting. She now identifies as an NPE (Not Parent Expected). She also learned that her ancestry is 50% Ashkenazi Jewish. This led her to find and participate in The BRCA Founder Outreach (BFOR) Study, which offers individuals of Ashkenazi Jewish ancestry genetic testing for the three BRCA mutations common in this population. Already a meditator, Maggie found that staying in the present moment and being mindful helped her to process her experience with less pain. She started The Mindful NPE social media accounts to support others going through similar experiences, promoting self compassion, acceptance and community for NPEs.
Connect with The Mindful NPE on Social Media
On Twitter: @themindfulNPE
On Instagram: @themindfulNPE
On Facebook
Other Related Resources
BFOR Study
Watershed DNA: Genetic counseling services focused on genealogy and ancestry
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Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
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Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast, Once Upon a Gene. Host Effie Parks previously shared her story on Patient Stories: "New in the Family: Ford and CTNNB1." Effie then went on to start her own podcast.
Once Upon a Gene is a podcast that explores the world of raising children with disabilities and rare genetic disorders. Effie shares her own personal story of raising a child with CTNNB1 syndrome, while trying to find the non-existent rule book of bringing up such a special kid. This podcast features interviews with fellow parents, therapists, doctors and anyone else who wants to share their story.
Effie's interviews with parents are uplifting and help to build community and connection among families navigating unexpected challenges and also finding unexpected joys.
In this episode, "A Little Love," Effie interviews her friend Mckenzie Vander Hoek about her daughter Everly, who has a diagnosis of achondroplasia, the most common form of skeletal dysplasia (more commonly known as dwarfism).
Links and Resources Mentioned
This Changes Nothing
Everly’s Story - Dear friends and family letter
Little People of America Association
Evie + Lolo on Instagram - @evieandlolo
It was difficult to choose just one episode to share from Once Upon a Gene! You can find Once Upon a Gene on Twitter, Instagram, Facebook and on Apple Podcasts, Spotify, Stitcher, and Overcast. If you remember Effie's interview about her son Ford and want to hear more of Effie's story, listen to Effie's interview with her husband Casey: "The Dadurday Chronicles."
Janelle was diagnosed with MLH1-associated Lynch syndrome as a young adult. With a background in pre-med and public health, she has found it easier than some to navigate the healthcare system and make sure she is getting the screenings that she needs. But she has also run into a lot of ignorance and ageism along the way. Working in the field of oncology has also made it harder for her to keep her diagnosis compartmentalized, forcing her to confront it more often than she normally would at her age.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Related Resources:
Lynch Syndrome/HNPCC Facebook Support Group
Lynch Syndrome Support Group / LSI Facebook Support Group
FORCE
Fight CRC Biomarked
Related Grey Genetics News Corner blog posts:
Why Have You Never Heard of Lynch Syndrome?
What Can 23andme tell you about your colorectal cancer risk?
Other Patient Stories episodes related to Lynch syndrome:
She with Lynch - with Georgia Hurst
Family Health History and a Missed Diagnosis of Lynch Syndrome - with Ann Jeffers Brown
Living with Lynch Syndrome - with Melanie Breault
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Check out other Patient Stories podcast episodes.
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
When Dawn was 15 years old, her parents were given a diagnosis for her which explained why her experience with puberty was different from that of other girls her age. Following the recommendations of doctors at the time, her parents told her that she did not have a uterus and would not be able to have biological children—but did not share the diagnosis of Androgen Insensitivity Syndrome (AIS) with her. At age 38, Dawn stumbled across this diagnosis when her 23andme results indicated that her karytoype was 46,XY, rather than the 46,XX karyotype that is typical for females. Dawn discusses how this diagnosis helped lead her to self-acceptance and to connection with others who have lived similar experiences.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
AIS DSD Support Group
InterACT
Weiss, Rachel. “She sent 23andMe her DNA. They told her she's intersex.” Newsday. Updated December 31, 2019.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Bryana Rivers is a second year genetic counseling student in the University of Cincinnati Genetic Counseling Program. As an African American female in a field that is >90% White, Bryana has a passion for increasing diversity within the profession of genetic counseling. Bryana talks about possible reasons for the lack of diversity within the field, ways this might be addressed, and shares her own path to the field of genetic counseling.
Story Reference Points:
Bryana’s experience at her first NSGC annual conference @ 1:45
Bryana’s path to the field of genetic counseling and experience as a GC Assistant at Hopkins @ 3:23
Why does diversity matter? @ 6:53
Bryana’s own experiences as a patient who is an ethnic minority @ 8:26
How race came up in one of Bryana’s genetic counseling sessions @ 11:06
Less obvious impacts of race on genetic counseling sessions @ 15:59
Why is genetic counseling so White? How can we diversify? @ 17:40
Representation Matters-- and the experience of attending the Minority Genetics Professionals Meetup at NSGC @ 21:56
Gender diversity within genetic counseling… a topic for another podcast?! @ 24:32
The makeup of Bryana’s genetic counseling class & contrast with her undergrad experience @ 26:31
What White female genetic counselors should understand about diversity @ 28:49
Links and Resources Bryana’s blog post: ”This Is What I Know. Now What Can We Do? – Racial Diversity in Genetic Counseling”
Articles cited by Bryana: Studying the Needles in the Haystack: A Qualitative Study of African-American and Latino Genetic Counselors. Amanda Kass and Larissa Veres. Human Genetics Theses and Capstones. The Joan H. Marks Graduate Program in Human Genetics. May 2016.
Diversity in genetic counseling: past, present and future. Mittman Is. Downs K. Journal of Genetic Counseling. 2008 Aug;17(4):301-13.
Connect with Bryana on Twitter@GcBry
Do you want to support Patient Stories? You can now make a donation online!
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Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointme
Patient stories is taking a hiatus. We will be back in July with a second season and already have some interviews recorded that we are excited to share with you. We would also love to hear from our audience as we plan our second season! Why do you listen? What have you liked best? What would you like to hear more of?
We’ve created a google form to collect your input!
This is not a news podcast... Patient Stories do not expire! Check out all 50 Patient Stories podcast episodes to date here!
Read Patient Stories on the Grey Genetics Patient Stories Page.
Help others find Patient Stories by leaving us a review on iTunes.
Support Patient Stories by making a donation online!
Patient Stories on Twitter: @GreyGeneticsPod
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Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
When Rebecca Alexander was 12 years old, she had trouble seeing the blackboard. She made her way from an optometrist to an ophthalmologist and was eventually diagnosed with Retinitis Pigmentosa (RP). Her parents were told that she would be blind by the time she was an adult. Rebecca also had a cookie bite of hearing loss. Through high school, she wore her hearing aids as little and as discreetly as possible. It wasn’t until Rebecca was in college that she experienced extreme tinnitus and saw an otolaryngologist that the diagnosis of Usher syndrome became real.
Today, Rebecca Alexander is an award-winning author, psychotherapist, keynote speaker, group fitness instructor, disability advocate, and extreme athlete. She also has Usher syndrome type III, and is almost completely blind and deaf. Her book, Not Fade Away: A Memoir of Senses Lost and Found is being made into a major motion picture. GAP licensed a mantra from her memoir, “Breathe in Peace, Breathe out Fear,” and launched a campaign on International Women’s Day in March 2020, featuring Rebecca as well as another woman with Usher syndrome. The two t-shirts that GAP created have already sold out, but you can see the campaign video here!
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Rebecca Alexander’s website
Buy Rebecca's book: Not Fade Away: A Memoir of Senses Lost and Found
Connect with Rebecca on Social Media:
Rebecca on Twitter: @Reb_Alexander
Rebecca on Instagram: @reb_alexander
Rebecca on Facebook
Resources related to Usher syndrome
Usher Syndrome Coalition
Usher Syndrome Society
Ava’s voice (in NJ)
The Foundation Fighting Blindness
The Hellen Keller National Center
Check out other Patient Stories podcast episodes.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
As a newborn, Anne Fricke’s second daughter Freya had trouble nursing, slept really soundly, and had hypotonia (low muscle tone). At three and a half months of age, Freya was diagnosed with Prader-Willi syndrome. Anne shares her family’s experience with Freya’s initial diagnosis, how she found support within the Prader-Willi community, and what their challenges are now that Freya is 8 years old. Anne also shares how she has used writing and poetry to help process her feelings and how this led her to start her podcast, Walking With Freya.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Anne Fricke’s website
Walking With Freya podcast episodes
- Episode 4: “Diagnosis”
- Episode 53: Anne interviews Eleanor about Grey Genetics and genetic counseling
Anne’s poem “Kintsugi”
Purchase the writing journal Anne created: There Is Joy To Be Found Here; a writing journal for parents of children with special needs
Prader-Willi California Foundation (PWCF)
Prader-Willi Syndrome Association (USA)
Follow Anne’s podcast Walking with Freya on Social Media:
Walking with Freya on Instagram: @walkingwithFreya
Walking with Freya on Facebook
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Tracy Milgram-Posner learned that she carried a BRCA2 mutation when she was just 21 years old. In the pre-Angelina Jolie era, feeling alone and isolated, she started a FacebookGroup, BRCAStrong, which has since grown into a 501(c)(3) non-profit whose mission is “To support, educate, inspire and empower Previvors and Survivors. To eliminate the feeling of isolation and help them feel whole again.”
Tracy shares how learning she had a BRCA2 mutation at such a young age impacted her life decisions; how she feels she wasn’t given enough education related to the effects of having her ovaries removed at just 32 years old; how helpful telehealth genetic counseling was for her even years after her diagnosis—and how she wished she had received the benefit at the time of her diagnosis; and how she navigates talking to her young children about BRCA-related risks. (Spoiler: She gives a big shoutout to Proactive Genes!)
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
BRCAStrong
Proactive Genes
My Gene Counsel
Connect with BRCAStrong on Social Media:
BRCAStrong on Instagram: @brcastrong
BRCAStrong on Facebook
BRCAStrong on YouTube
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Embree Ray Alexander was born June 11, 2017 and was healthy and happy for the first part of her life. Around seven months of age, it started to become clear that something was wrong. An MRI of the brain suggested a type of leukodystrophy, initially thought to be Tay Sachs disease. At eleven months of age, she was diagnosed with Sandhoff disease, an autosomal recessive condition that presents the same as Tay Sachs but is more rare.
Embree’s parents, Caitrin and Kyle, were told that Embree’s life expectancy would be about two, possibly three years. Her disease progressed quickly, and they lost their daughter at just 15 months of age. Caitrin and Kyle love remembering Embree and are passionate about raising awareness for Sandhoff and other allied diseases. Since we recorded this interview, Caitrin has become pregnant through PGD (Preimplantation Genetic Diagnosis) and IVF, with support from Baby Quest, and is expecting a baby who has already tested negative for Sandhoff disease in July 2020.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Embree's page on NTSAD & The Embree Alexander Fund
National Tay-Sachs & Allied Diseases Association (NTSAD)
BabyQuest Foundation
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here
Erika and Garin were 30 weeks into a complicated pregnancy when they learned that their pregnancy was not viable. Erika was denied an abortion due to New York’s 24 week cut-off so the couple travelled to Colorado to terminate her pregnancy. Their experience with New York’s abortion law, and the realization about how others were affected by it, led them to share their story publicly and advocate for reform.
They founded the RHAvote campaign, the grassroots home for the Reproductive Health Act (RHA), a bill that decriminalized abortion in New York and brought the state’s regulation of abortion in line with Roe vs Wade. They worked alongside a statewide coalition, and in January 2019, New York finally passed the RHA after being stalled for almost a decade.
After seeing the power of patient narratives first hand, they began organizing later abortion patients across the country (PatientForward.org). They are also parents to a 2½-year-old-daughter, Pepper.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Related Links and Resources
PatientForward
RHAvote.com
Erika & Garin on Twitter: @RHAVote
Tolentino, Jia. “Interview With a Woman Who Recently Had an Abortion at 32 Weeks.” Jezebel. June 15, 20216.
Tolentino, Jia. “How Abortion Law in New York Will Change, and How It Won’t.” The New Yorker. January 19, 2019.
The New York Times Editorial Board: A Woman’s Right (Series). The New York Times. December 28, 2018.
Tolentino, Jia. “Interview with Dr.” The Hairpin. September 20, 2013.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast that we think some of our listeners may enjoy: Walking with Freya, hosted by Anne Fricke.
In this 53rd episode of Walking with Freya, Anne interviewed me about genetic counseling. We talked about the kind of work that genetic counselors do, some of the reasons people see a genetic counselor, and differences between an MD Geneticist and a Genetic Counselor.
Walking with Freya is a podcast that Anne created to share her story of raising a daughter with Prader-Willi Syndrome, and to give space for other parents and caregivers of children with special needs to tell their stories. Check out her episodes to date here!
I also interviewed Anne about her experience with her daughter’s diagnosis of Prader-Willi syndrome. Watch for that episode to come out in March!
Walking with Freya on Instagram: @walkingwithfreya
Julie McConnel was in her mid 40s and hoping for a little girl to complete her family. Instead…. She had twin boys with Down syndrome. Julie shares her grief over the diagnosis, her concerns about whether or not she and her husband could handle twins with Down syndrome and their hesitation to parent—and how she now couldn’t imagine her life without Charlie and Milo.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Julie’s story on the NDSAN blog
Julie’s guest blog post on Cedars Story: Changing Perceptions of Down Syndrome
The National Down Syndrome Adoption Network
National Down Syndrome Society
Down Syndrome Diagnosis Network
Kids’ Waivers: information on Katie Beckett and other similar programs
Born This Way: a TV series that follows a group of seven young adults with Down syndrome
“Genetic Testing and the Rush to Perfection,“ National Council on Disability, October 23, 2019.
Follow Charlie and Milo on Social Media:
Charlie and Milo on Instagram: @chucklesandmeatloaf
Charlie and Milo on Facebook
Related Grey Genetics News Corner blog posts:
Mitigating Misinformation: Spreading Awareness for Down syndrome
NIPS: More Than Just a Sex Reveal
Adoption as an Option: The National Down Syndrome Adoption Network
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Stephanie Thompson still vividly remembers when her son Christopher, now 27 years old, received a diagnosis of Down syndrome. As a young woman and a first time mother, the diagnosis came as a shock. What she wishes her younger self knew? That it would be okay. Stephanie worked for eleven years in many different roles within the Down Syndrome Association of Greater Cincinnati and has deep insights into when, where and how a diagnosis of Down syndrome is given to parents and how this can be handled better. Today, Stephanie is the Director of the National Down Syndrome Network (NDSAN), whose mission is to ensure that every child born with Down syndrome has the opportunity to grow up in a loving family.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
National Down Syndrome Adoption Network
Resources for Patients
- New & Expectant parent information
- NDSAN video for new & expectant parents
- List of local Down syndrome parent groups
- Babies with Down Syndrome: A New Parent’s Guide
Resources for Medical Professionals
- Delivering a Down syndrome diagnosis
- Additional Resources for Medical Professionals
Stephanie’s blog post on the Grey Genetics News Corner: Adoption as an Option: The National Down Syndrome Adoption Network
Stephanie’s interview on The Lucky Few podcast: Adoption & Down Syndrome w/Stephanie Thompson from the NDSAN
Connect with NDSAN on Social Media:
NDSAN on Instagram: @ndsan321
NDSAN on Twitter: @dsadoption
NDSAN on Facebook
NDSAN on LinkedIn
“National Council on Disability Recommends More Regulation of NIPT.” Genome Web, October 23, 2019.
Genetic Testing and the Rush to Perfection, National Council on Disability, October 23, 2019.
Donate to Patient Stories
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Patient Stories on Twitter: @GreyGeneticsPod
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Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Patient Stories is taking a break this week for the holidays. We'll be back in 2020 with new episodes.
Check out all of our Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Georgia Hurst lost one brother to colon cancer when he was only 36 years old. When her second brother was diagnosed with colon cancer, he had genetic testing done and tested positive for MLH1-associated Lynch syndrome. Georgia went on to also test positive for Lynch syndrome. While she credits her Lynch syndrome diagnosis with ensuring regular and life-saving colonoscopies, her total hysterectomy had significant consequences for her health. Georgia shares insights on the repercussions of removing the ovaries as well as on the need for genetic testing to be approached thoughtfully, with an eye toward medical actionability for the individual.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Blog posts by Georgia in Cure magazine
NSGC’s tool: Find a Genetic Counselor
Schedule a genetic counseling appointment through Grey Genetics
Georgia’s interview on the DNA Today podcast
Georgia’s interview together with Ellen Matloff on the We Have Cancer podcast
Connect with Georgia on Social Media:
Georgia on Twitter: @_GeorgiaHurst
Follow #GenCSM
Kamp, Bailey, “Unearthing The Past That Could Affect Your Future: How Family Health History Could Change Your Life.” Grey Genetics News Corner Blog post.
Read more about cancer genetics
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Ann Jeffers Brown has a total of fifteen years’ experience in both clinic and industry. In this episode, she shares a case from early in her career: a late diagnosis of Lynch syndrome. Her experience with a Lynch syndrome patient who missed out on the opportunity of potentially life-saving information, continues to motivate her to this day to spread awareness about the significance of cancer family history, the importance of recognizing patterns of hereditary cancer within a family, and the potential for diagnostic genetic testing to provide different and potentially life-saving medical care.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Tools for Collecting Family Health History
FamHis
Surgeon General: My Family Health Portrait
NIH: Families SHARE
Family HealthLink
TapGenes
Links and Resources
Grey Genetics News Corner blog post: Why Have You Never Heard of Lynch Syndrome?
NSGC’s tool: Find a Genetic Counselor
Schedule a genetic counseling appointment through Grey Genetics
Order a family history review through Grey Genetics
Connect with Ann on LinkedIn
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Like millions of other Americans, Alicia Valladao did a DNA ancestry test when there was a sale, eager to learn more about her roots. Through the testing, she was surprised to learn that her biological father was not who she had thought he was. Alicia discusses the identity crisis and disenfranchised grief that followed, where and how she found support, and how this information has impacted her family relationships. Alicia has become active in Not Parent Expected, or NPE Groups, and is also currently writing a memoir.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Alicia’s story on the NPE Podcast
Description without hyperlink: DNAngels Facebook Group
DNA Surprise Support Facebook Group
NPE Only After The Discovery Facebook Group
Watershed DNA: Genetic counseling services focused on genealogy and ancestry.
A DNA Guide for Adoptees: addresses topics relevant to anyone doing a family search
Connect with Alicia on Social Media:
Alicia on Facebook
Alicia on Instagram: @notparentexpected
Alicia on Twitter: @npealicia
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling?Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
At 19, Terri Wingham learned that she had inherited a BRCA1 mutation from her father. At 23, she started an enhanced breast screening protocol, and at age 30 she was diagnosed with triple negative breast cancer. While she expected cancer to be awful, she didn’t expect Surviving cancer to be so difficult. Her struggle with depression and to find meaning and connection in this new phase of her life led her to found A Fresh Chapter—a non-profit organization that facilitates volunteer and leadership experiences to empower people impacted by cancer to reframe adversity and discover possibility and purpose in their lives.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
A Fresh Chapter
Terri’s story on Grey Genetics' Patient Stories page
Terri’s talk at Stanford Medicine X 2013
Man’s Search for Meaning on IndieBound.
Connect with A Fresh Chapter on Social Media:
On Twitter: @afreshchapter
On Instagram: @afreshchapter
On Facebook
On LinkedIn
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page. If you'd like to share your story on this page, email us at patientstories@greygenetics.com.
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Chelsea London Lloyd is an actress and comedian living in L.A. She holds a BA in theatre from USC. Growing up, her dad had ALS and her mom had breast cancer. Her mother’s breast cancer returned 17 years later at stage 4, which she has combated for the past three years. Chelsea interviews women with sick parents and features their stories on her blog, Daughters of Sick Parents. Next up is her podcast, DYING OF LAUGHTER, where she speaks with comedians who have a lost a parent. Email dyingoflaughter@gmail.com to be the first to know when it’s released this fall!
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Chelsea’s website
Chelsea’s blog: Daughters of Sick Parents
Follow Chelsea on Instagram: @_ChelsWhoElse_
Follow Daughters of Sick Parents on Instagram: @daughtersofsickparents
Check out other Patient Stories podcast episodes
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
When Erika was 7 years old, her mother was diagnosed with breast cancer; her mother was only 28 years old. At age 42, Erika’s mother was diagnosed with breast cancer for a second time and she was finally offered BRCA testing. Erika later learned that she also carried the same BRCA2 mutation and opted for a prophylactic bilateral mastectomy with reconstruction. After her own experience with genetic testing and the hard decisions that followed, Erika became motivated to advocate for other women facing the same situation, specifically young black women who are underserved by genetic counseling and testing. She writes and speaks often about her experience and is also the founding co-chair of the Young Leadership Council for the Basser Center for BRCA.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Erika’s website
A selection of Erika’s related writings:
“Genetic Counselors Of Color Tackle Racial, Ethnic Disparities In Health Care”
“Phantom Pains: Life after a double mastectomy”
“What No One Tells You About Your BRCA Mutation”
“This Is How the American Healthcare System Is Failing Black Women”
Connect with Erika on Social Media:
Erika on Twitter: @quidditch424
Erika on Instagram: @quidditch424
Related Grey Genetics News Corner blog posts:
ASBS recommends genetic testing for ALL women with breast cancer
NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer
What Can 23andMe Results Tell You About Your Breast Cancer Risk?
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern.
Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast related to Genetics that we think some of our listeners may enjoy: DNA Today: A Genetics Podcast, hosted by genetic counseling student Kira Dineen. DNA Today informs you on what’s happening in the genetics world.
In this episode, Kira interviews Eleanor about Grey Genetics, a telehealth company and the sponsor of Patient Stories. If you want to hear more about what we’re up to at Grey Genetics, listen to this episode! If you want to hear Kira interview other guests about current issues in genetics, check out her other episodes here.
You can find DNA Today on Twitter, Instagram, Facebook and iTunes.
Amy Byer Shainman, also known as the BRCA Responder, is a BRCA1 mutation carrier and previvor as well as a passionate patient advocate providing education and support for others with BRCA mutations and other hereditary cancer syndromes. Amy has appeared in numerous news articles and television segments sharing her story while stressing how important certified genetic counseling is in the genetic testing equation. She is the Executive Producer of the award winning BRCA documentary Pink & Blue: Colors of Hereditary Cancer, and an administrator of the Facebook Group BRCA Sisterhood, which has over 10,0000 members. She recently published a health and medical memoir, Resurrection Lily: The BRCA Gene, Hereditary Cancer, & Lifesaving Whispers from the Grandmother I Never Knew.
Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.
Links and Resources
Amy’s website: BRCA Responder
Buy Resurrection Lily through Indiebound
Watch Pink and Blue: Colors of Hereditary Cancer through Google Play or iTunes.
Lady Parts The Film
Connect with Amy on Social Media:
Amy on Twitter: @BRCAResponder
BRCAResponder on Instagram: @brcaresponder
Amy on Facebook
Amy on LinkedIn
Buy Pretty is What Changes through Indiebound
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? Make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.
Shannon’s son James was a little slower than most babies to meet his developmental milestones, but it wasn’t until after he had his first seizures that he was finally diagnosed with Tay-Sachs, a rare, inherited, autosomal recessive condition that progressively destroys nerve cells in the brain and spinal cord. Shannon and her husband had a total of just 27 months with James. Shannon shares how after receiving the diagnosis, she learned to live in the moment and appreciate the time she had with him. Her experience has also made her an advocate for offering patients expanded carrier screening—ideally before pregnancy!
Leave us a short voice message about your experience or thoughts on the episode here! We may use your message on a future show.
Links and Resources
National Tay Sachs and Allied Diseases Association
Cure Tay-Sachs Foundation
Connect with Shannon on Instagram: @shannonmiller9
Book recommendation: It’s OK that you’re not OK: Meeting Grief and Loss in a Culture That Doesn't Understand, by Megan Devine
More from parents of children with Tay Sachs
Carla Steckman’s Blog
Interview with Carla on the Call Your Mother podcast: ”A Mother, Not a Hero”
Three Short Years: Life Lessons in the Death of My Child, by Becky Benson
The Still Point of the Turning World, by Emily Rapp
Are you pregnant or planning a pregnancy and wanting to speak with a genetic counselor? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. You can browse our Network of genetic counselors or go straight to our scheduling page to book an appointment. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
More resources from Grey Genetics
Grey Genetics News Corner blog post: Expanded Carrier Screening & Frequently Asked Questions
Prenatal Genetics Resources Page
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Schedule a genetic counseling appointment with a genetic counselor specialized in your area of concern.
Like millions of other Americans, Dorothy Pomerantz took a 23andMe test on a whim. And like many other Americans, she received some results back that came as a surprise. Just a few weeks ago, she wrote an article in STAT News, sharing her experience of receiving BRCA positive results through 23andMe.
Do you have a 23andMe Story to share? You can now leave us a short voice message about your experience or thoughts on the episode here. We may use your message on a future show.
Related Links and Resources
Pomerantz, Dorothy. ”23andMe had devastating news about my health. I wish a person had delivered it.” STAT News. August 8, 2019.
Robbins, R., Garde, D. Feurstein, A. ”A writer shared her story about getting frightening genetic results online. The response was surprising.” August 19, 2019.
Follow Dorothy on Twitter: @DorothyPWrites
Information about the (lack of) regulation of genetic tests from the NIH National Human Genome Research Institute
Riley J and Stoll, K. Blurred Lines: Comparing Direct-to-Consumer and Clinical Testing. Clinical Lab News, AACC. July 1, 2019.
Kilbride, MK. Domchek, SM. Bradbury, Angela R. How Should Patients and Providers Interpret the US Food and Drug Administration’s Regulatory Language for Direct-to-Consumer Genetic Tests? Journal of Clinical Oncology. June 7, 2019.
Levenson, Deborah. The Case for Population-Based BRCA1 and BRCA2 Testing . Clinical Lab News, AACC. May 1, 2016.
King, MC, Evy-Lahad, E. Lahad, A. Population-Based Screening for BRCA1 and BRCA2. 2014 Lasker Award. JAMA. September 17, 2014.
Related Grey Genetics News Corner blog posts: What Can 23andMe tell you about your breast cancer risk?
NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer
Family history of breast cancer matters—even and especially when genetic test results are negative.
Support Patient Stories! You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern.
Cory and her two sisters were all born with Spinal Muscular Atrophy (SMA) Type II, a hereditary and progressive neuromuscular disorder. Although she has never walked, Cory has lived a full life: she enjoyed school; was an early adopter of online dating, where she met her husband; and has two healthy biological children. Cory is passionate about advocating for equal rights for those with disabilities, learning and teaching about motherhood from a wheelchair, and educating others on disability-life in general. She is a monthly blogger for the Colorado Springs Moms blog. Cory is also pleased that in 2018, SMA was added to the Recommended Uniform Screening Panel (RUSP) for newborns in the United States. With increasing treatment options available, early diagnosis and intervention are more important than ever.
Links and Resources
Cory’s blog post: View from a Wheelchair: Living in a World that Wasn’t Made for Me
Cory’s posts on Colorado Moms blog
Cure SMA
SMA Foundation
Spinal Muscular Atrophy UK
Muscular Dystrophy Association
General Newborn Screening Resource: Baby’s First Test
Leah Moore’s oldest child, Jordan, was diagnosed with Cri du Chat syndrome when she was 18 months old. The diagnosis ushered their family into an unexpected world that meant radically different expectations for their daughter’s life. Thanks to Early Intervention, at age 8, Jordan has already surpassed initial expectations: she walks, she talks, and she loves her two younger twin brothers. Leah describes how her family is similar to and also very different from other families and provides a window into what it is like to be the mother of an 8-year-old daughter with special needs. For Leah, self-care involves writing, and her primary outlet has been her blog, Loving You Big. Leah is also finishing up a book by the same name.
Links and Resources
Leah’s Blog: Loving You Big
Leah’s personal narrative piece that kicked off her blog: "The Irony of Language"
Description without hyperlink: 12-minute documentary film (2012) about Cri du Chat, featuring Leah’s daughter Jordan
“Welcome to Holland”
Five P Minus Society
Shane’s Inspiration
Connect with Leah:
Leah on Twitter: @LeahMooreWriter
Leah on Instagram: @lhm629
Leah on Facebook
Email Leah
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new review services here.
Five days after Allison’s son Isaac was born, she received a phone call from her physician’s office, telling her that her son had received positive test result on Newborn Screening (NBS). A long two days later, they were meeting with a geneticist at a hospital an hour and a half drive away, learning what a diagnosis of Glutaric Acidemia (GA-1), a rare metabolic disorder only part of NBS since the mid-2000s, meant for their son and their family. Allison is a passionate advocate for NBS and shares studies she has been involved with that point to ways to improve parents’ experience with receiving positive NBS results—and ideas for involving genetic counselors early in the process! Allison is also currently a second year genetic counseling student in the graduate program at Bay Path University.
Links and Resources
Baby’s First Test
Organic Acidemia Association
Medical Nutrition Equity Act
Information on Katie Beckett and similar programs: Kids’ Waivers
Genetic Alliance
Rare New England (RNE)
New England Regional Genetics Group (NERGG)
Bay Path University Genetic Counseling Program
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here
When Missy Zolecki learned that she had a family history of Fragile X syndrome (FXS), she sought out carrier testing, thinking that she and her fiancé would not have children if she learned she was at risk for having a child with FXS. Fast forward 21 years later, Missy and her husband have been married 21 years and have three children, the oldest of whom is 18 years old and has Fragile X syndrome. Missy discusses how her religious faith influenced her decision making process around the option of IVF and Preimplantation Genetic Diagnosis (PGD), available only under a research protocol in 2000. She shares how she moved from anger at medical errors to appreciating the people and the opportunities that her son’s diagnosis of FXS has brought into her life. Missy explains how an accurate diagnosis of Fragile X—the leading genetic cause of autism—can be incredibly helpful in providing optimal care and education for children with Fragile X. She also shares her passion for women being offered preconceptual carrier testing for Fragile X for women, giving them choices and allowing them to make informed decisions.
Links and Resources
National Fragile X Foundation (NFXF)
Connect with the National Fragile X Foundation on Social Media:
NFXF on Twitter: @nfxfoundation
NFXF on Instagram: @nfxfoundation
NFXF on Facebook NFXF on YouTube
Other Related Resources CDC recommendations and guidelines related to diagnosis and evaluation of ASD
The CDC on Fragile X Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for some guidance but not ready to book a genetic counseling appointment? You can also check out our new review services here.
When Abigail Patenaude was 16 years old, routine blood work showing elevated LFTs (liver function tests) led to a diagnosis of Wilson Disease, an autosomal recessive condition which is more often diagnosed much later in life (if at all) after hepatic or neurological symptoms caused by an accumulation of copper in the body. Abigail discusses why an early diagnosis of Wilson Disease was so lucky and how her experience with genetic counseling as a patient led her to pursue a career in genetic counseling. At the time that we recorded this interview, Abigail was nearing graduation from Sarah Lawrence College with a Masters in Human Genetics. What has surprised her the most in her training? That things are rarely straightforward in genetic counseling!
Links and Resources
Wilson Disease Association
Connect with the Wilson Disease Association on Social Media:
Wilson Disease Association on Twitter: @wilsondisease
Wilson Disease Association on Facebook
Do you also have Wilson Disease? Send Abigail an email!
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
When Vicki was diagnosed with breast cancer for the third time at age 47, she was finally offered genetic testing and learned she carried a mutation in the BRCA2 gene. When her brother Harvey learned there was a 50/50 chance he could be carrying the same mutation, he didn’t think too much about it. Two years later, he felt a lump in his breast and was diagnosed with breast cancer. 18 months later, he was diagnosed with prostate cancer. After experiencing how hard it was to find information and support related to breast cancer in men, Harvey and Vicki were driven to found HIS Breast Cancer. They are passionate about reframing breast cancer not as a woman’s disease but as a human disease that affects both men and women.
Links and Resources
HIS Breast Cancer
Facing Our Risk of Cancer Empowered (FORCE)
Harvey’s book on Amazon: Sir! You Have Breast Cancer
Documentary Pink & Blue: Colors of Hereditary Cancer on iTunes and on Amazon.
Connect with HIS Breast Cancer on Social Media:
HIS Breast Cancer on Twitter: @hisbreastcancer
HIS Breast Cancer on Instagram: @HISbreastcancer
HIS Breast Cancer on Facebook
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Fran Emmolo Gamella is a young mother of two living with Familial Hypercholesterolemia. She was diagnosed with FH in her mid-20s but it wasn’t until she had a heart attack at age 31 that she became really serious about her medical care. Her six-year-old daughter has also been diagnosed with FH. Fran works as a Medical Assistant in a primary care practice setting and is passionate about raising awareness for FH. LDL of >190— definitely get it checked out!
Story Reference Points:
Fran’s diagnosis with FH in her mid-20s… and her 6yo daughter’s diagnosis @ 1:52
So…. what is FH? @ 7:49
23andme and FH testing @ 11:28
Misperceptions of what it “looks like” to have high cholesterol @ 13:55
Fran on being a non-compliant or “bad” patient @ 16:55
Fran’s heart attack… and her denial of the symptoms @ 18:30
Adjusting to what it takes to live a healthy life with FH @ 22:40
Challenges of insurance coverage @ 25:34
Links and Resources
The FH Foundation
Connect with the FH Foundation on Social Media:
The FH Foundation on Twitter: @TheFHFoundation
The FH Foundation on Instagram: @fhfoundation
The FH Foundation on Facebook
Grey Genetics News Corner blog post: Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients. National Lipid Association. 2011.
Grey Genetics News Corner blog post: What can 23andMe results tell you about your cholesterol-related risks?
Listen to a previous Patient Stories Podcast with Colleen McCready: Familial Hypercholesterolemia: The Symptomless Sickness
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
To see a list of genetic counselors who specialize in cardiovascular genetics, visit https://greygenetics.as.me/cardiovascular
We are re-sharing an interview that has been a favorite for many listeners. May is Cystic Fibrosis Awareness Month, and Sophie is embarking on another adventure and fitness challenge. This time, it’s Crossing For A Cure—80 miles on a paddle board from Florida to the Bahamas to raise money to find a cure for Cystic Fibrosis.
Sophie Grace Holmes was born with Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around health and fitness. Sophie is now 27 years old. She is a fitness model, a trainer, a massage therapist and a motivational speaker. She thrives on challenges, and her many accomplishments include completing a 100k and summiting Mt. Kilimanjaro and Mt. Blanc.
Story Reference Points:
What is Cystic Fibrosis? @ 1:49
Sophie's diagnosis with Cystic Fibrosis @ 3:15
Sophie's turning point at 19 @ 6:19
Sophie's recent climb of Mt. Blanc @ 14:36
Social Media and CF @ 19:35
Pioneering better treatment plans for CF with a focus on exercise and nutrition @ 22:54
Sophie's perspective on bringing a child with CF into the world @ 30:58
Sophie's perspective on life expectancy and plans for the future @ 33:35
Links and Resources
Sophie on Instagram Crossing for a Cure on Instagram
Piper’s Angels
Sophie’s website
Cystic Fibrosis Trust (U.K. org)
The Cystic Fibrosis Foundation (U.S. org)
Newborn Screening in the U.K.
Newborn Screening in the U.S.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
After years of misdiagnoses, Seth Rotberg’s mother was finally diagnosed with Huntington’s Disease (HD) when he was 15 years old. At the age of 20, Seth had genetic testing and also tested positive for HD. Initially, Seth stayed in the “genetic disease closet,” telling only close friends about his positive test results and waiting 3 years to tell his father and sister. The loss of two close friends at a young age shifted Seth’s perspective, inspiring him to open up about his positive genetic testing results, to strive to live fully in the present while hoping and working toward a brighter future and a cure for HD.
Story Reference Points:
What is Huntington’s Disease (HD)? @ 1:45
Seth’s mother is diagnosed with Huntington’s Disease @ 4:07
Seth has genetic testing done for HD at age 20 @ 14:22
Why Seth wishes he’d had genetic counseling before HD testing @ 18:44
Seth seeks out genetic counseling 6 years after testing @ 23:25
Seth becomes involved with HD support organizations @ 25:04
Seth loses a close friend in an accident @ 27:25
HD and research @ 31:52
The genetic disease closet @ 35:00
HDYO, HDSA, and HD Buzz as resources @ 36:55
Misconceptions surrounding HD @ 39:49
Links and Resources
Seth’s website
Seth’s TEDx talk
HD Resources: Huntington’s Disease Youth Organization Huntington’s Disease Society of America HD Buzz
Connect with Seth on Social Media:
Seth on Twitter: @Srotberg15
Seth on Instagram: @Rotberg15
Watch for Seth’s upcoming interview on the DNA Today Podcast
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Check out our new family history review services here
When Cherielee was 26 years old, she was found to carry a mutation in the CDH1 gene. Her genetic diagnosis led her down a path that included a prophylactic gastrectomy at the age of 30, followed by multiple complications. Today, Cherielee is 31 years old, still recovering but very glad of her decision to undergo prophylactic surgery and grateful for her aunt's cancer diagnosis and testing that allowed her to take steps to prevent cancer. Cherie is passionate about the need for doctors to focus on their patients’ cancer family history and either offer hereditary cancer testing or refer their patients on to a genetic counselor. She also recently started an Instagram account focused on Stomach Cancer Awareness: @previvor_perspective
Story Reference Points:
Cherie’s aunt is found to carry a CDH1 mutation @ 1:56
Cherie’s mother gets involved with No Stomach for Cancer and has genetic testing done through a genetic counselor @ 7:17
Medical management for someone with a mutation in CDH1 @ 10:30
Cherie and her younger brother and sister consider testing @ 15:26
Cherie receives her positive test results @ 17:57
From screenings to prophylactic gastrectomy @ 19:59
Multiple complications and a long recovery @ 24:04
Adjusting to life without a stomach @ 29:40
Breast screenings and a decision about prophylactic mastectomy @ 34:15
Cherielee’s story inspires her fiancé’s career @ 35:52
Cascade testing saves other relatives’ lives @ 39:40
Looking ahead to family planning @ 40:54
Inspiration to start the @previvor_perspective instagram account @ 43:32
Why are doctors missing patients who should be offered testing? @ 47:07
Links and Resources
Cherie’s Instagram focused on Stomach Cancer Awareness: @previvor_perspective
No Stomach for Cancer
Facing Our Risk of Cancer Empowered (FORCE)/a>
Cherie on Linkedin
Cherie on Facebook
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling?
Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in hereditary cancer or in or another area of concern.
Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Check out ou
Sarah Messali tested positive for a mutation in the BRCA2 gene when she was 18 years old. By her early 20s, she was getting regular breast screenings. Watching her mother go through a diagnosis of triple negative breast cancer solidified her decision to pursue a prophylactic mastectomy with reconstruction. Sarah has written extensively about how her surgeries and long recoveries have impacted her life and her young children. Her writing includes a deeply personal look at how she feels about her breasts and how this has impacted her self-esteem, her dating life, and her passion for weightlifting, health, and physical fitness.
Story Reference Points:
Sarah’s BRCA2 positive result at age 18 @ 1:42
Sarah’s decision to pursue a prophylactic mastectomy @ 5:46
Breast reconstruction outcomes @ 13:45
Breast reconstruction, fitness, and 2nd opinions @ 17:44
Sarah loses her aunt to breast cancer in 2nd grade @ 24:53
Dating in a new chapter of life @ 27:10
Sarah’s boudoir photo shoot @ 31:25
Connect with Sarah on Social Media:
Sarah on Instagram: @SarahNMessali
Sarah on Twitter: @SarahMessali
Links and Resources
“I Love my Body More, Since Having a Mastectomy.”Worthy.October 14, 2018.
BRCA Fitness and Nutrition Facebook Group
Check out other Patient Stories podcast episodes.
Read one of Sarah’s blog posts as well as other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Use this link to book with one of our growing number of genetic counselors who specialize in cancer genetics!
Janine Mash is a certified genetic counselor and the founder of San Francisco Genetic Counseling, a private practice genetic counseling service. She specializes in reproductive and prenatal genetic counseling, which means that pregnancy loss and trisomies specifically have come up a lot in her career. Janine is passionate about Options Counseling as it relates to pregnancy—making sure that patients are aware of the available testing options and are able to make informed decisions about the many increasing number of testing options during pregnancy. Janine shares her own story of pregnancy loss as well as her perspective on Non-Invasive Prenatal Screening (NIPS) and Expanded Carrier Screening.
Story Reference Points:
Janine’s path to genetic counseling and her experience in genetic testing labs as well as clinical practice @ 1:56
Impact of trisomies and other aneuploidies on fertility and miscarriage @ 4:32
Aneuploidy in the context of IVF and PGS @ 10:04
Janine’s experience with her own miscarriage @ 12:20
Miscarriage… and recurrent miscarriage @ 15:12
Patient story related to genetic testing on products of conception (POC) @ 17:47
Changes in screening for trisomies during pregnancy—including Non-Invasive Prenatal Screening (NIPS) @ 19:55
Options Counseling! @ 30:15
Expanded Carrier Screening @ 33:00
Normalization of pregnancy loss—and taking an active role in your pregnancy planning and decisions @ 37:54
Links and Resources
San Francisco Genetic Counseling
Book a genetic counseling appointment with Janine! All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Connect with Janine on Social Media:
SF Genetic Counseling on Instagram: @sfgeneticcounseling
SF Genetic Counseling on Facebook Janine on LinkedIn
Grey Genetics News Corner blog post: "Expanded Carrier Screening & Frequently Asked Questions"
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
At just 35 years of age, Stacey Wilson was diagnosed with Stage III Colorectal Cancer. Nine months later, with surgery and chemotherapy behind her, Stacey met with a genetic counselor, had hereditary cancer testing done, and received an explanation for why she was diagnosed with colorectal cancer at such a young age, and with no family history of colorectal cancer: She had a genetic diagnosis of MAP (MUTYH-Associated Polyposis), an autosomal recessive hereditary cancer syndrome caused by mutations in both copies of the MUTYH gene. Stacey is passionate about raising awareness for Colorectal Cancer, the possibility of preventing colorectal cancer in many cases through screening colonoscopies, and the benefits of genetic testing for those diagnosed at a young age or with a significant family history of colorectal cancer. She also shares why she has mixed feelings about 23andMe’s MUTYH testing and direct-to-consumer genetic testing in general.
Story Reference Points:
What is MAP? @ 2:05
Stacey’s diagnosis of colorectal cancer at age 35 @ 3:00
The wonders of Nurse Navigators and deciding on the right course of treatment @ 5:40
Referral to genetic counseling discussion of possible results @ 8:26
Disclosure of genetic testing results and Stacey’s follow-up with doctors @ 11:40
From MD Anderson and back to Indy: Stacey’s continued screenings--and incidental findings @ 13:25
Variable polyp burden with MAP and dealing with limited information @ 17:26
How common is MAP really? @ 22:00
Stacey’s response to individuals who hesitate to have a colonoscopy done @ 23:43
Implications of Stacey’s MAP diagnosis for her children and navigating testing for her husband @ 26:03
Stacey’s mixed feelings about 23andMe adding the two common MUTYH variants to their health report--and at-home genetic testing in general @ 29:37
Stacey’s change in perspective about family history and cancer risk @ 32:27
Stacey’s advice to someone diagnosed with colorectal cancer <50yo and how to think about your family history of colorectal cancer @ 36:21
The importance of being your own advocate and seeking out second opinions @ 38:08
Colon Cancer Awareness! @ 41:50
Links and Resources
Stacey’s blog post on the Colon Cancer Coalition Website: ”Life with MAP: Becoming My Own Advocate”
Stacey featured on the Colon Cancer Coalition website: Faces of Blue: Stacey Wilson
Grey Genetics News Corner blog post What Can 23andme tell you about your colorectal cancer risk?
Colon Cancer Coalition
Colorectal Cancer Alliance
Fight Colorectal Cancer
American Cancer Society Guideline for Colorectal Cancer Screening
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social
Danaé was 10 years old when her younger brother’s lens dislocation led to her own diagnosis of Homocystinuria (HCU). When Danaé was 24 years old, she developed a blood clot in her wrist that served as a wake-up call for her to focus on her health and to learn how to eat a low-protein diet. She became involved with the local PKU Organization of Illinois, connecting with others who had a different diagnosis but similar dietary restrictions. Today, Danaé is the co-founder and Executive Director of HCU Network America, whose mission is to help patients with HCU and related disorders manage their disease and find a cure.
Story Reference Points:
What is Homocystinuria (HCU)? @ 1:50
Danaé’s path to a diagnosis @ 3:30
Treatment for Homocystinuria @ 12:26
HCU: A Challenge for Newborn Screening @ 14:58
Danaé’s turning point: a blood clot in wrist @ 19:07
Connecting with a local PKU organization and tackling the challenges of a low-protein diet @ 25:11
The beginnings of HCU Network America @ 33:42
HCU Network America’s work and NBS challenges @ 40:32
HCU Network America’s challenges in reaching metabolic clinics @ 46:47
Importance of and lack of access to metabolic dietitians, particularly during pregnancy @ 52:39
Shout out to Kisha Johnson, Danaé’s metabolic genetic counselor @ 57:41
Links and Resources HCU Network America
Read Danaé’s story along with other Patient Stories on the Grey Genetics Patient Stories Page
Find a metabolic clinic that treats patients with homocystinuria
Additional metabolic clinics
More on Newborn Screening: Baby’s First Test
Connect with HCU Network America on Social Media:
HCU Network America on Twitter: @HCUAmerica
HCU Network America on Instagram: @hcu_network_america
HCU Network America on Facebook HCU Network America on YouTube
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Effie and her husband’s initial concerns about their son Ford were brushed aside. But by the time Ford was 3 months old, he was failing to thrive. Soon, Effie was initiated into the world of special needs and the diagnostic odyssey. When Ford was 16 months old, thanks to Whole Exome Sequencing, he was finally diagnosed with CTNNB1 Syndrome, a rare genetic condition caused by a de novo mutation in the CTNNB1 gene. Today, Ford is nearly 2 ½ years old. Ford’s diagnosis has allowed Effie to connect with other parents of children with CTNNB1 Syndrome. Together, they have also started an organization to raise awareness for CTNNB1 Syndrome and to support and connect with other affected families.
Story Reference Points:
What is CTNNB1 Syndrome? @ 1:32
Effie’s path to a diagnosis for her son Ford @ 4:54
Effie’s experience with Genetics WES (Whole Exome Sequencing) for Ford @ 11:54
A genetic diagnosis opens up a network of CTNNB1 parents @ 17:22
Being a parent of a child with special needs @ 21:20
A second pregnancy, self-advocacy, and a sibling for Ford @ 28:24
Social media and other helpful resources @ 32:12
The challenge of finding all the right resources @ 37:10
The many unknowns of rare disease @ 41:03
Effie’s advice to other parents in similar situations @ 44:42
Links and Resources
Find Effie on Twitter: @ArareCollection
CTNNB1 Syndrome Awareness Worldwide
Unique
Rare Disease Foundation
Kindering
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Ellen Matloff spent the first part of her career in Genetic Counseling at the Yale School of Medicine, where she served as the Director of the Cancer Genetic Counseling Program for 18 years. She was also one of the plaintiffs in the lawsuit against Myriad Genetics, the 2013 BRCA patent case that reached the United States Supreme Court and resulted in several patents related to human genetic testing being overturned. Four years ago, inspired by the rapidly evolving realities of the genetic testing marketplace and the need to provide insights from genetic counseling to patients in digital, scalable, efficient ways, Ellen founded My Gene Counsel.
Story Reference Points:
Ellen’s path to genetic counseling @ 2:15
Margie: Ellen’s first patient (BRCA1) as a new grad in 1996 @ 3:53
Change in attitudes toward genetic counseling and testing over the past two decades @ 9:49
Nate: A belated genetic diagnosis (GREM1) makes Cascade Testing possible for family members @13:03
Keeping up with evolving testing options @ 20:20
Changing protocols for pre- and post-test genetic counseling @ 22:18
Ellen’s change in perspective on genetic testing and direct-to-consumer genetic testing @ 26:32
My Gene Counsel offers digital, scalable genetic counseling insights with push notifications as new data becomes available @ 28:46
How Ellen sees the role of the Genetic Counselor continuing to evolve @ 35:51
The challenge of informed decision making with direct-to-consumer genetic testing @ 38:48
Need for tools to help patients and healthcare providers to understand genetic testing results @ 39:43
Need to innovate and diversify within the field of genetic counseling @ 43:08
What consumers should know about order genetic testing online @ 48:25
Links and Resources My Gene Counsel
Ellen Matloff on Forbes
My Gene Counsel blog post on Nate’s story: "Beyond BRCA: GREM1"
Guest post on My Gene Counsel by Brianne Kirkpatrick: "Oprah Thinks You Should Buy a Genetic Testing Kit for Christmas … But What Does the Genetic Counselor Say?"
Grey Genetics Blog Post: "What Can 23andMe Results Tell You About Your Breast Cancer Risk?"
Historic NIH-Funded Research Genetic Testing Program All of Us
Connect with My Gene Counsel on Social Media!
On Twitter: @MyGeneCounsel
On Instagram: @mygenecounsel
On LinkedIn
On Facebook
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
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Some of our listeners have asked how they can help support Patient Stories. You can now donate to Patient Stories online!
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Grey Genetics on Twitter: @GreyGeneticsPod
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We’ve also redesigned the Patient Stories Podcast page on the Grey Genetics website. There is now an individual link for each episode, making it easier to share specific episodes with friends and on social media.
Check out the Patient Stories companion project, where many of you have shared your stories in written form.
Thanks for listening!
Over 20 million people are estimated to have done an at-home genetic test, most focused around ancestry testing, and the numbers jump each holiday season. Brianne Kirkpatrick is a certified genetic counselor and the founder of Watershed DNA, which includes a private practice genetic counseling service for individuals who are considering direct-to-consumer testing as well as individuals who have been surprised by the results of their direct-to-consumer testing. In this interview, Brianne shares some of the surprises and family secrets her clients have stumbled across after direct-to-consumer testing and gives some advice as to what to consider before gifting a kit or doing one yourself.
Story Reference Points:
Brianne’s own family mystery “Where did Grandpa Ted go?” @ 3:00
Brianne founds Watershed DNA @ 6:34
Increase in DTC testing means more family secrets are revealed @ 11:12
Facebook support groups for those dealing with DNA Surprises @ 17:19
Brianne’s co-authored book in progress The DNA Guide for Adoptees. @ 19:46
Is a DNA test kit a good gift? @ 22:06
Two things most people don’t understand about DTC testing @ 24:40
Individuals share their #DNASurprise stories on Brianne’s site @ 28:50
Links and Resources Brianne’s company: Watershed DNA
Brianne’s blog post: “DNA Testing: Considerations Before You Test”
Brianne’s blog
Watershed DNA Resources & DNA Surprise Stories
Book an appointment with Brianne
Connect with Brianne and Watershed DNA on Social Media
Watershed DNA on Facebook
Brianne on Twitter: @GCBrianne
Brianne on LinkedIn
Brianne is also newly on Instagram: @GC Brianne
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Kevin Alexander is a professional videographer. He also has an inherited metabolic condition, PKU (phenylketonuria). Thanks to Newborn Screening, Kevin was diagnosed with PKU just 9 days after birth and immediately put on dietary treatment. With a carefully monitored diet, Kevin has been able to live an otherwise normal life. In the 1960s, PKU was the first condition to be tested for as part of Newborn Screening. Newborn screening now includes up to 60 disorders, depending on the state, and can provide a timely and life-saving diagnosis for many infants. Through multiple video projects, Kevin has worked to raise awareness of PKU and of Newborn Screening more broadly. He is now also starting a podcast related to PKU! Watch for the first episode on PKU Awareness Day (December 3) and regular episodes starting in January.
Interview Reference Points:
What is PKU? Why is it diagnosed through Newborn Screening (NBS) and how is it treated?@ 1:40
Kevin’s diagnosis with PKU and ongoing management by metabolic team at Tulane @ 6:34
Feeling the difference of PKU @ 11:03
Living with PKU as an adult and the benefit of newer medications @ 14:54
In 2011, Kevin releases a short documentary My PKU Life and becomes more involved in PKU and NBS advocacy @ 16:44
Social Media as a tool for connecting with other people with PKU @ 18:48
Life with untreated PKU and the life that NBS has made possible - @ 20:06
Parents’ Privacy Concerns and Newborn Screening (NBS) @ 23:00
PKU support system on Facebook @ 27:46
The Medical Nutrition Equity Act @ 31:20
Meeting Katy and her family: a late PKU diagnosis @ 35:41
Links and Resources Kevin’s Facebook page
Kevin’s short documentary My PKU Life
Kevin’s documentaryFor Katy
Kevin’s short documentary Kevin's YouTube Channel
Kevin featured in a recent CRM Studios blog post
National PKU Alliance
More on Newborn Screening: Baby’s First Test
More on the Medical Nutrition Equity Act
Kevin's new podcast! PKU Life Podcast with Kevin Alexander
PKU Life Podcast Facebook page
PKU Life Podcast on Twitter@PKULifePodcast
PKU Life Podcast on Instagram @pkulifepodcast
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern.
At 43 years old, Elise Roth Tedeschi was diagnosed with Stage IV pancreatic cancer. She subsequently learned that she carried the same mutation in the BRCA2 gene that her sister Cari, a breast cancer survivor, had previously been found to carry. Elise also learned that this same BRCA2 mutation that had made her more susceptible to developing pancreatic cancer in the first place also increased her odds of survival. Seven years later, Elise’s status is NED (no evidence of disease). Her mutation status, her faith, her family, and especially her sister Cari helped her get there. Elise is involved with the Pancreatic Cancer Action Network, supporting other patients through a pancreatic cancer diagnosis, and is working on a book related to her own journey.
Story Reference Points:
Elise’s slow journey to a diagnosis of pancreatic cancer @ 2:33
Cari’s BRCA2 testing five years after her breast cancer diagnosis @ 6:44
Elise’s work and family life goes on amidst treatment for pancreatic cancer @ 11:45
Cari’s take on Elise’s treatment and on being her advocate @ 20:58
Elise’s decision not to have BRCA testing done earlier in life and how she sees it now @ 23:54
Cari on screening for pancreatic cancer within research protocols @ 26:21
PanCAN as a resource for patients with pancreatic cancer @ 28:31
Elise and Cari’s advice to patients dealing with a pancreatic cancer diagnosis: seek out an NCI-Designated Center; get a second opinion; have an advocate @ 34:43
PARP inhibitors as a new treatment option @ 38:20
Cari’s experience with genetic testing and counseling; testing for other family members @ 39:31
Cari and Elise on genetic testing for their children @ 41:15
Elise and Cari on how cancer drew their family even closer @ 45:36
Elise on receiving an outpouring of support from friends and community @ 47:20
Elise on receiving an outpouring of support from friends as well as strangers @ 47:20
Links and Resources All patients with pancreatic cancer (or a first- or second-degree relative with pancreatic cancer) meet NCCN criteria for genetic testing!
Pancreatic Cancer Action Network
Donate to Elise’s PurpleStride (5K Walk/Run) Team in Atlanta
PanCAN on Twitter: @PanCAN
PanCAN on Instagram: @PanCAN
PanCAN on Facebook
PanCAN on YouTube
Find a clinical trial on the FORCE site
Find an NCI-Designated Cancer Center
Moffitt Cancer Center
Moffitt on Twitter: @MoffittNews
Related Grey Genetics blog posts: ”Is Pancreatic Cancer Hereditary?”
”All patients with pancreatic cancer now meet guidelines for hereditary cancer testing.”
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or sh
Darlena Cunha is a 36-year-old freelance writer and journalism professor at the University of Florida. When Darlena was in her early 30s, her mother, in her 50s with no personal history of breast cancer but a significant family history of cancer, sought out genetic testing and learned that she carried a mutation in the BRCA1 gene. Darlena learned that she carried the same mutation and began the journey of appointments with multiple specialists, discovering that while all would present her with options, no one would actually tell her what she should do.
Story Reference Points:
BRCA1 mutations and Darlena’s family history of cancer @ 1:30
Darlena’s mother tests positive for a BRCA1 mutation @ 5:20
Darlena and her sister’s single site genetic testing @ 6:45
Darlena’s experience with genetic counseling @ 9:46
Darlena’s experience with enhanced breast screening @ 12:09
Preventative mastectomy, recovery, and dealing with it all in the workplace @ 14:20
Prophylactic BSO looming @ 20:47
Impact of BRCA1 mutation on family planning @ 23:00
Impact on Darlena’s daughters @ 24:35
Need for more personalized risk assessments and recommendations @ 28:20
Links and Resources Reactions to Washington Post article@ 38:04
Barriers to genetic testing for other women, cost-effectiveness and insurance @ 41:00
Darlena on Twitter
Darlena on LinkedIn
Information on GINA (Genetic Information Non-Discrimination Act)
Related pieces by Darlena:
“I have the scary cancer mutation. When should I have my breasts removed?” Washington Post. March 18, 2018
“Breast Cancer and the Mom-God Fantasy”
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
At just 34 years old, Karla felt a lump that turned out to be breast cancer, first diagnosed as stage 2 and then as stage 3. Like many young women with breast cancer, Karla’s genetic testing results were negative, leaving her without an explanation for why she was diagnosed with an aggressive breast cancer at such a young age. Karla is an ambassador for the Cancer Treatment Centers of America and for the Stanford Cancer Institute Community Partnership Program, which aims to reduce breast cancer disparities among African American women.
Story Reference Points:
Writing her book and dealing with recurrence @ 2:35
Karla’s first referral to genetic counseling @ 8:40
Breast cancer in African American women @ 15:35
Karla’s long, slow path to initial diagnosis @ 22:00
Karla’s family history of cancer @ 28:15
Karla’s second referral to genetic counseling and the leaps in genetic testing @ 30:32
Karla’s perspective on breast cancer awareness and survivorship lingo @ 37:18
Breast cancer as more than one disease - with a wide range of prognoses @ 44:42
Karla’s care at CTCA and work as an ambassador for CTCA and the SCI Community Partnership Program @ 51:32
How the Affordable Care Act affected Karla personally and how insurance concerns continue to impact her life now @ 56:46
More on Karla’s book - which you can buy online! @ 1:02:30
Links and Resources Karla’s website
Karla’s blog on Living!
Buy a signed copy of Karla’s book!
Karla on Twitter: @karlaliving
Karla on Facebook
Cancer Treatment Centers of America (CTCA) on Twitter: @CancerCenter
Stanford Cancer Institute Community Partnership Program
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Jenn Perry grew up surrounded by cancer. She lost her mother to breast cancer, and she and her younger sister later also developed breast cancer. At age 42, she received a genetic diagnosis that explained the pattern of cancer in her family: Li-Fraumeni syndrome. In 2010, shortly after her diagnosis, Jenn attended the first Li-Fraumeni conference, which brought together both Li-Fraumeni patients and researchers. Today, Jenn is President and Co-Founder of the Li-Fraumeni Syndrome Association, which provides support services for patients while also raising funds for research.
Story Reference Points:
What is Li-Fraumeni syndrome? @ 1:56
Jenn’s path to a diagnosis of LFS and her experience with genetic counseling @ 2:54
Medical management of LFS, body awareness, and parenting children with LFS @ 13:37
The first LFS conference in 2010 and the founding of the Li-Fraumeni Syndrome Association @ 18:40
LFSA activities, resources and recent launch of Youth Programs @ 21:45
Jenn’s advice to those contemplating hereditary cancer testing @ 42:22
The Li-Fraumeni Syndrome Association
LFSA on Twitter: @LFSAssociation
LFSA on Facebook
LFSA on LinkedIn Reach out to LFSA for support
Donate to LFSA
LFS on NORD
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
At just 13, Heather lost her mother to breast cancer. Fifteen years later, a mother herself, Heather had genetic testing done and learned that she carried a mutation in a BRCA gene. Heather shares her experience as a previvor--from genetic counseling to finding the right doctors to her continued involvement in the BRCA community and the many changes she’s witnessed since she was tested in 2005.
Story Reference Points:
Heather learns that she carries a BRCA1 mutation @ 1:20
Making major medical decisions and finding the right doctors @ 7:54
Heather’s children’s books @ 19:59
Heather remembers her mother @ 22:19
Heather’s surveillance today and memories of scanxiety @ 27:24
The Breast Advocate app @ 29:14
Life after an oophorectomy @ 31:30
Heather’s children’s and their BRCA risks @ 36:07
BRCA resources: then and now and the shift toward shared decision making @ 41:00
Heather’s advice to individuals considering genetic testing @ 43:35
Heather’s advice to individuals looking for the right doctors @ 45:08
Links and Resources
My BRCA Story (Heather’s blog)
Heather on Twitter: @expattravelmom
Heather on Facebook
Beyond The Pink Moon Facebook Group
The Breast Advocate app
Breast Reconstruction Resources:
Terri Coutee on Twitter: @6state
The Diep C Foundation
The Diep C Journey Facebook Group
Heather’s books on Amazon:
Why is Mommy Having Surgery? She Looks OK to Me: For families with BRCA risk and undergoing prophylactic surgery and implant reconstruction
This Much I Know
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Are you looking for genetic counseling? Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Mary Adeturinmo is a 25-year-old University graduate who studied Architecture. She also has Sickle Cell Disease. Due to health challenges, she has spent a lot of time in recovery as well as promoting and raising awareness for Sickle Cell Disease. She is part of the B Positive Choir which raises awareness about the importance of blood donations as well as Sickle Cell Disease. The B Positive Choir was a finalist on Britain's Got Talent which helped spread their message to a wider audience. Mary also has a YouTube channel where she speaks on different issues she faces with this genetically inherited condition.
Story Reference Points:
Growing up with Sickle Cell Disease @ 6:48
Living with Sickle Cell Disease at University outside of London @ 12:14
Living with Sickle Cell Disease and chronic pain as a young adult @ 20:32
Joining the B Positive Choir and encouraging blood donations @ 29:34
New Standards for Clinical Care of Adults with Sickle Cell Disease in the UK @ 38:16
The value of collaborative, empathic care @ 43:53
Social challenges of living with an invisible condition @ 47:58
Sickle Cell and Social Media @ 54:06
Knowing your carrier status and dating with Sickle Cell Disease @ 1:04
Links and Resources The B Positive Choir on Britain’s Got Talent!
Mary on Instagram: @professionalpatient25
Mary on Twitter: @profeshpatient
Mary’s YouTube Channel
Red Cells R Us Facebook Group
UK Resources:
Sickle Cell Society
NHS Blood Donation
US Resources:
Sickle Cell Disease Association of America
Find a place to donate blood near you in the U.S.!
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Tawny Rother is 34 years old, recently engaged and a mom to three children. Two years ago, she lost her mother to ovarian cancer. Her mother carried a mutation in a gene called RAD51D, which increases the risk for ovarian cancer. Tawny learned she carried the same RAD51D mutation as her mother. Both of her grandmothers had also died of ovarian cancer. Determined to break the cycle, Tawny recently had her ovaries and fallopian tubes removed at age 34. She shares what her journey has been like and memories of her mother.
Story Reference Points:
Tawny mother’s diagnosis and testing @ 1:50
Tawny’s experience with telehealth genetic counseling and testing @ 3:55
Life after a bilateral salpingo-oophorectomy @ 10:34
On deciding when to have a BSO @ 18:27
Ovarian cancer awareness: seek a second opinion and genetic testing @ 20:01
CA-125 screening for ovarian cancer and affordability of genetic testing @ 38:31
Links and Resources Tawny on Instagram: @the_tawnyscrawny_lion and @tawnys_journey
Ovarian Cancer Canada
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
As a new mother and young college student, Jennifer McNary noticed that her first son, Austin, wasn’t meeting his developmental milestones, but it wasn’t until he was 3 years old that Austin was diagnosed with Duchenne Muscular Dystrophy. The same diagnosis would follow for his younger brother, Max. Today, Jenn is the mother of four children as well as an advocate, public speaker and consultant in the rare disease space.
Story Reference Points:
What is Duchenne Muscular Dystrophy? @ 1:05 Austin’s diagnosis with Duchenne @ 3:10
Raising sons with Duchenne @ 7:32
Spotlight on Duchenne advocacy organizations @ 13:57
Jenn’s work as a consultant in the rare disease space @ 25:53
Links and Resources Jenn on Twitter Jenn on LinkedIn
Beauhawks Foundation
Little Hercules Foundation
Parent Project Muscular Dystrophy
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Sophie Grace Holmes was born with Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around health and fitness. Sophie is now 27 years old. She is a fitness model, a trainer, a massage therapist and a motivational speaker. She thrives on challenges, and her many accomplishments include completing a 100k and summiting Mt. Kilimanjaro and Mt. Blanc.
Story Reference Points:
What is Cystic Fibrosis? @ 1:49
Sophie's diagnosis with Cystic Fibrosis @ 3:15
Sophie's turning point at 19 @ 6:19
Sophie's recent climb of Mt. Blanc @ 14:36
Social Media and CF @ 19:35
Pioneering better treatment plans for CF with a focus on exercise and nutrition @ 22:54
Sophie's perspective on bringing a child with CF into the world @ 30:58
Sophie's perspective on life expectancy and plans for the future @ 33:35
Links and Resources Sophie on Instagram Sophie’s website
Cystic Fibrosis Trust (U.K. org)
The Cystic Fibrosis Foundation (U.S. org)
Newborn Screening in the U.K.
Newborn Screening in the U.S.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Charlotte Peinhardt was born with a cleft lip and cleft palate in a small town in Alabama in the 1980s. Her parents’ surprise in the delivery room was later followed by her own realization in elementary school that she looked different from other children. Charlotte shares her story of growing up with this difference even as she underwent numerous corrective surgeries that ultimately ended with an ideal cosmetic outcome. Charlotte is now a pediatric genetic counselor who specializes in craniofacial disorders, working first at Weill Cornell Medical College in New York City and now at Emory in Atlanta, Georgia.
Story Reference Points:
Charlotte’s birth story @ 3:17
Folic acid and CLCP @ 17:00
Growing up with CLCP @ 18:45
Luca’s birth story @ 29:10
Surgical Saga @ 35:22
Charlotte’s impromptu genetic testing @ 47:53
Charlotte Peinhardt on LinkedIn
Links and Resources
Cleft Advocate
Smile Train
The Cleft Lip and Cleft Palate Association
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Patient Stories is on summer break this week, so we don' t have a new episode to share with you. But we do want to tell you about a related project we’re working on.We're also sharing a few clips from past interviews with you. Keep the emails coming!
Find some of our past interviewees on social media:
Melanie on Twitter @mbreaul1 and on Instagram
Nori on LinkedIn
Colleen on Twitter @cmccready73
Rachelle on Twitter @RachelleM_Dixon and on LinkedIn
Genetic Counselor Christina Kresge talks about her most memorable cases from providing pediatric and adult genetic counseling services to an underserved population in and around Newark, NJ over the past eight years. She also shares her own recent experience as a patient going through her first pregnancy, grappling with the implications of a positive carrier testing result.
Story Reference Points:
Patient story #1: Myotonic Dystrophy @ 4:34
Patient story #2: Sialidosis @ 9:15
Patient story #3: A rare recessive condition and an unexpected finding on microarray @ 14:49
Patient story #4: Newborn Screening and Homocystinuria @ 22:49
Patient story #5: Christina’s own story with prenatal carrier testing @ 25:41
Links and Resources
Information on Myotonic Dystrophy from the Muscular Dystrophy Association Facebook group for Sialidosis
Information and Resources related to High ROH (Regions of Homozygosity)
Newborn Screening Resource
National Organization for Rare Diseases (NORD)
Rare Advocacy Movement (RAM)
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Caroline Lieber was on a pre-med track in college in 1973 when she first heard about the new field of genetic counseling. Her career plans changed that day. Forty-five years later, after 18 years of clinical experience, 15 years as the Director of the Human Genetics Program at Sarah Lawrence College, and 5+ years working as a consultant for commercial genetic testing labs and newly minted Genetic Counseling programs, Patient Advocacy remains her passion. She shares the stories of patients that have stuck with her, whose strength and resiliency continue to inspire her.
Patient story reference points:
Patient story #1 @ 9:20
Patient story #2 @ 17:55
Caroline's own story with genetic testing @ 33:28
Links and Resources "A WILD RIDE: A Genetic Counselor Undergoes Genetic Testing" (https://www.nsgc.org/p/bl/et/blogaid=349) - Caroline's blog post on her experience with undergoing BRCA testing. May 13, 2015.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Rachelle Dixon shares her story of growing up around "the family disease," eventually diagnosed as HSAN1E--a rare, hereditary, degenerative neurological condition that claimed the lives of her mother and two of her siblings. Rachelle is the President and Co-Founder of the HSAN1E Society, an advocate for rare diseases, and a frequent speaker on caregiving for individuals with rare diseases.
Links and Resources
The HSAN1E Society
NORD (National Organization of Rare Diseases)
Global Genes
Rare Advocacy Movement (RAM)
Rare Advocacy Movement (RAM)
HSAN1E Society on Facebook
hsan1esociety@gmail.com
Find Rachelle on Twitter @RachelleM_Dixon and on LinkedIn.
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Colleen McCready shares her lifelong struggle with Familial Hypercholesterolemia, a condition that affects ~1/250 individuals yet is undiagnosed in an estimated 90% of those affected. She discusses how she was diagnosed, how FH has impacted her life, issues surrounding genetic discrimination, and her role as an Advocate with the FH Foundation.
Links and Resources
The Familial Hypercholesterolemia Foundation
The Genetic Information Nondiscrimination Act (GINA) of 2008
GinaHelp.org
Find the FH Foundation and Colleen on Twitter:
@TheFHFoundation @cmccready73
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
The first genetic counselor to work within a Medical Examiner’s Office, Nori Williams, MS, CGC talks about how she works with families after the loss of a loved one from Sudden Unexplained Death that turns out to have an underlying cardiogenetic cause. She shares stories of grief, resiliency and hope from families she has worked with, helping them to understand what their loved one’s genetic testing results mean for other family members.
Patient story reference points:
Patient story #1 @ 10:10
Patient story #2 @ 14:55
Resources:
postmortem@nsgc.org
CredibleMeds - Up-to-date list of drugs to avoid for people with LQT
Sudden Arrhythmia Death Syndromes Foundation (SADS)
Book a genetic counseling appointment with Nori!
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Melanie Breault discusses the impact Lynch syndrome has on her life and how it affects her views on women's health, disparities in healthcare, and patient care.
Links and Resources
AliveAndKickn
FORCE
Find Melanie on Twitter and Instagram: @mbreaul1
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page
Do you want to support Patient Stories? You can now make a donation online!
Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.
Patient Stories on Twitter: @GreyGeneticsPod
Patient Stories on Instagram: @patientstoriespodcast
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.