76 episodes

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.

Patient Stories with Grey Genetic‪s‬ Grey Genetics

    • Medicine
    • 4.8 • 47 Ratings

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.

    Far Away with Fabry

    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.

    • 26 min
    Epidermolysis Bullosa: Great Pain and Gigantic Love

    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

    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?

    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.

    • 44 min
    The Loneliness of Living with Von Hippel-Lindau Syndrome

    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

    VHL Alliance

    Aware of Angels

    Miracle’s for Mickey (Mikaela's Blog)

    Follow Mikaela on Instagram: @MikaealaGage7



    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.

    • 55 min
    Changing the Narrative for Trisomy 18

    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.

    • 1 hr 6 min
    Finding Support for Unexpected DNA Discoveries

    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

    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.

    • 35 min
    A Long Diagnostic Odyssey to Ehlers-Danlos Syndrome

    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

    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.

    • 33 min

Customer Reviews

4.8 out of 5
47 Ratings

47 Ratings

Effielyn ,

Love this podcast

Eleanor is such an empathetic and personable host. I love the content in her episodes and I’ve learned so much throughout this podcast.

humboldtmama ,

Gratitude

Thank you so much for this podcast! It is great to connect with these stories.

NPE Alicia ,

Informative Podcast

This podcast is professionally done and very informative. I’m always learning something new in each episode!

Top Podcasts In Medicine

Listeners Also Subscribed To