Rachelle Dixon shares her story of growing up around "the family disease," eventually diagnosed as HSAN1E--a rare, hereditary, degenerative neurological condition that claimed the lives of her mother and two of her siblings. Rachelle is the President and Co-Founder of the HSAN1E Society, an advocate for rare diseases, and a frequent speaker on caregiving for individuals with rare diseases.  



Links and Resources
 
The HSAN1E Society

NORD (National Organization of Rare Diseases) 

Global Genes

Rare Advocacy Movement (RAM)

Rare Advocacy Movement (RAM)

HSAN1E Society on Facebook

hsan1esociety@gmail.com

Find Rachelle on Twitter @RachelleM_Dixon and on 
LinkedIn.



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Are you looking for genetic counseling?
Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

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A Fatal Family Disease & the Flip of a Coin

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.

Medicine

Science & Medicine

Health & Fitness

This episode was originally published in August 2018. Last Sunday, Sophie ran the London Marathon—her first of 36 marathons she plans to run in 36 days, as she raises money for Cystic Fibrosis Trust. You can follow Sophie's progress on Instagram @sophiegraceholmes

Sophie Grace Holmes was born with Classic Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around health and fitness. Sophie is now 27 years old. She is a fitness model, a trainer, a massage therapist and a motivational speaker. She thrives on challenges, and her many accomplishments include completing a 100k and summiting Mt. Kilimanjaro and Mt. Blanc.

Links and Resources
Sophie on Instagram
Crossing for a Cure on Instagram


Piper’s Angels
Sophie’s website
Cystic Fibrosis Trust (U.K. org)
The Cystic Fibrosis Foundation (U.S. org)
Newborn Screening in the U.K.
Newborn Screening in the U.S.

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Read other Patient Stories on the Grey Genetics Patient Stories Page.


Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
Do you want to support Patient Stories? You can make a donation online!
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
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Defying Cystic Fibrosis One Mountain at a Time [Rebroadcast]

When Ushta was pregnant with her third child, she found herself being told which tests she would be having done—rather than being offered options and having them explained to her. As a genetic counselor working in reproductive genetics, she had also started fielding many questions from individuals looking for more insight and direction in a time of expanding prenatal testing options. These experiences led her to leave her role in industry and start her own company: FiND Genetics, an independent telemedicine genetics consulting practice. Ushta shares the path that led her to FiND Genetics, her perspective on recent changes within the field of genetic counseling, and how genetic counseling can empower patients to make informed decisions.


Links and Resources
FiND Genetics
Genotypecast Interview with Katie Stoll: Prenatal Screening, False Positives, and NYT's Coverage


Connect with Ushta on Social Media
Ushta and FiND Genetics on Instagram: @findgenetics
Ushta on LinkedIn

Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.


Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
Do you want to support Patient Stories? You can make a donation online!
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list. 

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Navigating Genetic Testing in Pregnancy & the Path to FiND Genetics

Eleanor first interviewed Heather in 2018. At that time, Heather was several years out from completing a prophylactic mastectomy and oophorectomy related to her BRCA1 mutation and was living in Singapore. Her children were ages 10, 12, and 13. Heather shared her story of losing her mother to BRCA1-related breast cancer when she was only 13 and her determination to learn her risks and take all the steps she could to be there for her children. Today, Heather is living in Spain and her children are 15, 17, and 19. When I reached out to Heather about a follow-up Next Chapter interview, they had all just mailed their DNA to 23andMe for testing.


Resources
Listen to Heather’s 2018 interview with Patient Stories
My BRCA Story (Heather’s blog)

Heather’s books on Amazon:
Why is Mommy Having Surgery? She Looks OK to Me: For families with BRCA risk and undergoing prophylactic surgery and implant reconstruction
This Much I Know


Connect with Heather on Social Media
Heather on IG: 
 @expattravelmom 
 @my_brca_story 
 @learnwithheatherb



Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page.


Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
Do you want to support Patient Stories? You can make a donation online!
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list. 


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Next Chapter: Losing My Mother, Previving For My Children

As a teenager, Devin experienced what she now describes as mito crashes and thought it was just a normal part of being a teenager. Her older brother led the way to a shared diagnosis of an autosomal recessive mitochondrial disease: mitochondrial DNA depletion syndrome. Devin’s diagnosis came as she was beginning to develop an identity as an adult. In college, she found community, support and activism among other disabled students and started identifying as Disabled. Today, as a genetic counselor, she brings her perspective and activism to the subjects of eugenics, disability, and inclusion: “If you’re not uncomfortable, you’re not growing.”


Related Resources
Mitochondrial Medicine Society: resources 
Mitochondrial Disease Care Network
United Mitochondrial Disease Foundation: Teen and Young Adult Virtual Meet-Up Ages 16-35 (weekly)
Stella Young Ted Talk “'I’m not your inspiration, thank you very much”
Devin on Mito Genetics 101
Devin on Mito Genetics 102
Devin’s Ted-Ed talk (No, she didn’t choose the title. And it doesn’t make sense!) 


Connect with Devin
Devin on Twitter: @DevinShuman
Request an appointment with Devin through the Genetics Support Foundation
Wish you could chat with Devin about mitochondrial disease? Every 4th Wednesday of the month, she hosts an hour-long session through Mito Action.


Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.


Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
Do you want to support Patient Stories? You can make a donation online!
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list. 

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Red Herrings, the Diagnostic Purgatory & Mitochondrial Disease

Eleanor first interviewed Melanie in 2018. She was 29 years old at the time and had received a diagnosis of Lynch syndrome just before turning 25. Melanie shared her experience with receiving a diagnosis, recommended screenings and related challenges with health insurance coverage, and how Lynch impacted her experience with dating and thinking about having her own family one day. Today, Melanie is 35, recently married, and 28 weeks pregnant!
In Next Chapter interviews, we check back in with previous guests on Patient Stories to see how their stories have continued to unfold. 


Related Resources
FORCE (Facing Our Risk Empowered)
AliveAndKickin
Connect with Melanie on Social Media
Melanie on Twitter: @melaniebkursun
Melanie on Instagram: @melaniebkursun


Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.


Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!


Do you want to support Patient Stories? You can make a donation online!


Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list.

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Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message

A Fatal Family Disease & the Flip of a Coin

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