Patient Stories with Grey Genetics
By Grey Genetics
Patient Stories with Grey GeneticsApr 13, 2021
Patient Stories is taking a hiatus…. Please take 1 minute to answer our survey!
Patient Stories is taking a hiatus. We plan to be back in the fall with a third season. We would love to better understand our audience. If you could take 1 minute to fill out this survey, we would appreciate it!
Check out past Patient Stories podcast episodes.
Read Patient Stories on the Grey Genetics Patient Stories Page
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.
Cancer, Genomics, and The Weight of Many Decisions
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.
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 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.
A Roll of the Dice
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?
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.
A Mother's Journey with Sickle Cell Disease
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?
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 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.
Far Away with Fabry
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?
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 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.
Epidermolysis Bullosa: Great Pain and Gigantic Love
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
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?
Leave us a short voice message here! We may use your message on a future show.
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.
The Loneliness of Living with Von Hippel-Lindau Syndrome
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
Miracle’s for Mickey (Mikaela's Blog)
Follow Mikaela on Instagram: @MikaelaGage7
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.
Collect and share your family history through the FamGenix app.
Changing the Narrative for Trisomy 18
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.
Finding Support for Unexpected DNA Discoveries
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
Find support through Watershed DNA
The Watershed DNA Mighty Network
Book an appointment with Brianne
Watershed DNA Resources & DNA Surprise Stories
Follow Brianne on Social Media
Brianne on Twitter: @GCBrianne
Brianne on Instagram: @GCBrianne
Other NPE Support Resources
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.
A Long Diagnostic Odyssey to Ehlers-Danlos Syndrome
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
Director of EDS-friendly specialists
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.
Pancreatic and GI Cancer Genetic Counseling
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
NCCN: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer
The Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA)
Finding Your Voice Through Dravet Syndrome
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
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
Family History 2.0
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.
Psychiatric Genetic Counseling
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 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.
Reaching New Heights with Hemophilia
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
Where to stream Bombardier Blood
Follow Save One Life on Social Media
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.
Slowing Down with Mitochondrial Myopathy
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
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.
Lucas & Menkes Disease: From Diagnosis Day to The Disorder Channel
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' Families support group on Facebook
Disorder: The Rare Disease Film Festival
Daniel’s interviews for the Once Upon A Gene podcast
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.
Learning Compassion through Rett Syndrome
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
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
Other Related Links
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.
Not Parent Expected (NPE): The Untethering & My Own Story
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
Other Related Resources
Watershed DNA: Genetic counseling services focused on genealogy and ancestry
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.
Once Upon a Gene: "A Little Love"
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.
Links and Resources Mentioned
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."
Confronting Ageism with Lynch Syndrome
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
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.
Androgen Insensitivity Syndrome (AIS): Finding Self-Acceptance and Connection
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
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.
Representation Matters: Increasing Diversity within 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!
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
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…. Second Season to come in July!
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
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.
Between Worlds: Usher syndrome type III
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.
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
Resources related to Usher syndrome
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.
Talking about Prader-Willi syndrome with the host of Walking with Freya
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
Walking With Freya podcast episodes
- Episode 4: “Diagnosis”
- Episode 53: Anne interviews Eleanor about Grey Genetics and genetic counseling
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.
Becoming BRCAStrong
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
Connect with BRCAStrong on Social Media:
BRCAStrong on Instagram: @brcastrong
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.
Sandhoff Disease & A Spirit That Lives On
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)
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
A Later Abortion Story
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
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.
Walking with Freya: "Ep 53: Eleanor and Grey Genetics"
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
Unexpected Joys on the Scenic Route with Down Syndrome
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
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.
Down Syndrome & Adoption as an Option
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
“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.
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. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Patient Stories is taking a holiday break. More episodes in 2020!
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.
She with Lynch
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.
Family Health History and a Missed Diagnosis of Lynch Syndrome
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
Surgeon General: My Family Health Portrait
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
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.
Not Parent Expected (NPE): DNA, Identity, and Changing Family History
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 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.
Beyond Survivorship: A Fresh Chapter
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
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
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.
Losing, Living, and Laughing
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 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.
Black and BRCA Positive
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
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.
DNA Today, Episode #173: "Eleanor Griffith on Grey Genetics"
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.
Resurrection Lily: A BRCA Memoir
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.
Connect with Amy on Social Media:
Amy on Twitter: @BRCAResponder
BRCAResponder on Instagram: @brcaresponder
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.
A Short Life with Tay Sachs & Advocating for Preconceptual Carrier Screening
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
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
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.
Can 23andMe Have It Both Ways?
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
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.
Living a Full Life with SMA Type 2
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
A Window into Cri du Chat
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
Connect with Leah:
Leah on Twitter: @LeahMooreWriter
Leah on Instagram: @lhm629
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.
Newborn Screening and Support for Glutaric Acidemia Type 1 (GA-1)
Links and Resources
Information on Katie Beckett and similar programs: Kids’ Waivers
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
Fragile X: The Leading Genetic Cause of Autism
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.
Wilson Disease: When early diagnosis makes all the difference
Links and Resources
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.
Men Get Breast Cancer Too!
Links and Resources
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
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.
“I have FH, FH doesn’t have me!”
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
Connect with the FH Foundation on Social Media:
The FH Foundation on Twitter: @TheFHFoundation
The FH Foundation on Instagram: @fhfoundation
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