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Patient Stories with Grey Genetics

Patient Stories with Grey Genetics

By Grey Genetics

Genetics isn’t always black and white. And the emotions and decisions surrounding genetic testing can be even more complex. Hosted by genetic counselor Eleanor Griffith, the show brings you the personal experiences of patients and genetic counselors.
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Red Herrings, the Diagnostic Purgatory & Mitochondrial Disease

Patient Stories with Grey GeneticsMar 12, 2024

00:00
01:12:28
Red Herrings, the Diagnostic Purgatory & Mitochondrial Disease

Red Herrings, the Diagnostic Purgatory & Mitochondrial Disease

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

Mar 12, 202401:12:28
Next Chapter: Living with Lynch Syndrome

Next Chapter: Living with Lynch Syndrome

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.

Feb 27, 202446:47
A Later Abortion Story

A Later Abortion Story

This episode was originally published in February 2019. On June 24, 2024, Roe v. Wade was overturned. A few related links have been updated.


Erika and Garin were 30 weeks into a complicated pregnancy when they learned that their pregnancy was not viable. Erika was denied an abortion due to New York’s 24 week cut-off so the couple travelled to Colorado to terminate her pregnancy. Their experience with New York’s abortion law, and the realization about how others were affected by it, led them to share their story publicly and advocate for reform.

They founded the RHAvote campaign, the grassroots home for the Reproductive Health Act (RHA), a bill that decriminalized abortion in New York and brought the state’s regulation of abortion in line with Roe vs Wade. They worked alongside a statewide coalition, and in January 2019, New York finally passed the RHA after being stalled for almost a decade.

After seeing the power of patient narratives first hand, they began organizing later abortion patients across the country ⁠⁠(PatientForward.org⁠⁠). They are also parents to a 2½-year-old-daughter, Pepper.

Have thoughts or a related story you’d like to share? ⁠⁠Leave us a short voice message here!⁠⁠ We may use your message on a future show.


Related Links and Resources

⁠⁠PatientForward⁠⁠

⁠⁠RHAvote.com⁠⁠

⁠⁠Erika & Garin on Twitter: @RHAVote⁠⁠

Tolentino, Jia. “⁠⁠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.


Additional links for 2024

Tolentino, Jia. “⁠⁠⁠We're Not Going Back to the Time Before Roe. We're Going Somewhere Worse⁠.⁠⁠” The New Yorker. June 24, 2022.

Hercher, Laura. "⁠Genetic Counselors Scramble Post-Roe to Provide Routine Pregnancy Services without Being Accused of a Crime⁠." Scientific American. August 23, 2022.


Do you have a story to share related to abortion and genetics? Send. an email to ⁠podcast@greygenetics.com⁠



Check out other Patient Stories podcast episodes.

Read other Patient Stories on theGrey 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


Feb 13, 202401:31:27
A Late Diagnosis of Cutis Laxa and the Creation of ThinkGenetics
Jan 30, 202438:07
Next Chapter: A Career in Genetic Counseling

Next Chapter: A Career in Genetic Counseling

Eleanor first interviewed Abigail in 2019 when she was still a second year genetic counseling student. Abigail shared the story of her diagnosis of Wilson Disease and how it led her to a career in genetic counseling. She has now been a genetic counselor for over four years. Second year genetic counseling student Kelsey Crocker interviewed Abigail for the first of the Patient Stories Next Chapter interviews, where we check back in with previous guests on Patient Stories to hear how their stories have continued to unfold.


Related Resources

Listen to Abigail’s original interview for Patient Stories: “Wilson Disease: When Early Diagnosis Makes All the Difference!

Wilson Disease Association

Connect with the Wilson Disease Association on Social Media:

Wilson Disease Association on Twitter: @wilsondisease

Wilson Disease Association on Facebook


Send Abigail an email!



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

Jan 16, 202420:20
Hypermobile Ehlers-Danlos Syndrome: An Invisible Condition

Hypermobile Ehlers-Danlos Syndrome: An Invisible Condition

Alexandra Parker is a senior student at Sarah Lawrence College. Alex describes her journey to a diagnosis of Hypermobile Ehlers-Danlos Syndrome and the skepticism that she faced from medical professionals. She had to adjust emotionally and physically following her diagnosis with respect to sports. Self-advocacy has become an important part of Alex’s day to day. She discusses the importance of “being believed” in a medical setting and encourages others to seek out different medical professional expertise when needed.

Alex was interviewed by guest host Kelsey Crocker, a second year genetic counseling student.


Links and Resources

The Ehlers-Danlos Society


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

Jan 02, 202425:50
A Waiting Game & Another Diagnosis

A Waiting Game & Another Diagnosis

After losing her first son Alex at only 10 months of age to a rare genetic condition, Jill and her husband went on to have four more children. Jill’s youngest daughter, Katie, was always small from birth. By the time she was 15 months old, it was obvious that Katie’s growth was significantly delayed. By age 2, she had started on human growth hormone. At the time that we recorded this interview in 2021, Katie was 5 years old and had a suspected diagnosis of Russell Silver syndrome. Katie has since had genetic testing done and has been diagnosed with 22q Deletion syndrome. Jill shares how her experience with Alex meant that with each of her children, she felt like she was waiting for the other shoe to drop. She also discusses how her experience with Alex prepared her to be an excellent advocate for Katie.


Links and Resources

The Magic Foundation 


To hear part one of Jill's story about her first child, Alex, listen to the last episode: Breaking Taboos & Leaving Room for Grief


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

Dec 12, 202301:08:54
Breaking Taboos & Leaving Room for Grief

Breaking Taboos & Leaving Room for Grief

At 20 weeks of pregnancy, Jill learned that her son Alex had a diaphragmatic hernia. And a ventricular septal defect. An amniocentesis revealed a rare diagnosis of Mosaic Trisomy 5: some of her son’s cells had a typical number of chromosomes (46,XY) and some had an extra copy of chromosome #5. Jill shares a detailed account of her prenatal and neonatal journey, including the diagnosis of additional birth defects and complications and the lack of available information or anticipatory guidance for parents who know they will have a child in the NICU. Alex died when he was 10 months old.  Jill explores the taboo around acknowledging parental exhaustion and burnout as well as the taboos surrounding talking about children who have died—which has the effect of isolating a grieving parent. She shares the importance of leaving room for grief and allowing people to talk about loved ones they have lost.


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

Nov 28, 202301:11:01
Navigating the Uncertainty of a BRCA Mutation

Navigating the Uncertainty of a BRCA Mutation

When Marleah was 8 years old, her mother was diagnosed with breast cancer. When Marleah was in college, her mother had genetic testing done and learned that she carried a mutation in the BRCA2 gene. This finding explained the breast cancer in Marleah’s family and inspired Marleah’s career as a university professor, focused on communication and decision making surrounding hereditary cancer risk. Marleah met with a genetic counselor when she was in her PhD program but chose to wait until she was 25 before she had genetic testing done and learned that she also carried a BRCA2 mutation. Marleah shares her own journey as a previvor and discusses her ongoing work in the field.


Links and Resources

Cancer Communication Research 

Marleah’s Tedx Talk: How to Make Decisions Based on Uncertain Information

Marleah as part of the CDC’s Bring Your Brave Campaign

Marleah’s campaign video for the CDC

Dean M,  et al. “Shared Decision-Making Experiences of Couples with Inherited Cancer Risk Regarding Family Building.” J Health Commun. 2023 May 4;28(5):292-301. 

https://www.facingourrisk.org/BOAST/

Facing Our Risk of Cancer Empowered

Connect with Marleah on Social Media

Marleah on Twitter @marleahdeank

Marleah 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

Nov 14, 202338:40
Bardet-Biedl Syndrome and the Value of a Diagnosis

Bardet-Biedl Syndrome and the Value of a Diagnosis

Molly sensed that something was different with her son Joshua starting shortly after birth: he was a very fussy baby; his growth was off the charts. By 10-12 months, Molly had the full attention of her pediatrician; Josh was clearly not meeting milestones. She then spent over five years focused on finding a diagnosis. Their diagnostic odyssey included meeting with five geneticists before they finally traveled out of state for a full clinical trial just after the Covid-19 Pandemic hit. Just before his 6th birthday, Josh was diagnosed with Bardet-Biedl syndrome (BBS). Molly shares how she had to learn to respond to people’s comments about Joshua’s obesity as well as generic recommendations from uninformed healthcare providers about diet and exercise. For them, the pandemic offered a temporary refuge from the judgements of society and the stigma associated with obesity. She also shares how Josh's diagnosis has influenced his medical care and given her a new and powerful tool to respond to comments related to obesity.


Links and Resources 

https://msha.ke/mollyedangelo/

Bardet Biedl Syndrome Foundation  

Lead For Rare Obesity


Connect with Molly on Social Media:

Molly on Instagram

Molly on Facebook

Molly on Twitter


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.

Oct 31, 202342:38
Coming Soon: Patient Stories, Season 3

Coming Soon: Patient Stories, Season 3

Patient Stories is finally coming back with a new season.

Do you want to share your story? Email us at podcast@greygenetics.com. You will be interviewed by Eleanor, a genetic counseling student, or..... you could also be interviewed by a loved one and send us the audio to publish in our feed. We can share some resources to help you with this! (Interview guides, amateur recording tips, etc.) Just email us to let us know you're interested! This new option we're piloting was inspired by NPR's StoryCorps.

Are you an aspiring genetic counselor? Consider ⁠joining the Patient Stories Club⁠⁠.

⁠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!⁠

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.

Subscribe to the Grey Genetics mailing list⁠


Oct 24, 202302:19
Patient Stories is taking a hiatus…. Please take 1 minute to answer our survey!

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.

Apr 13, 202100:51
Cancer, Genomics, and The Weight of Many Decisions

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.

Mar 30, 202148:06
A Roll of the Dice

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.

Mar 16, 202141:20
A Mother's Journey with Sickle Cell Disease

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.

Mar 02, 202146:59
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.

Feb 16, 202126:54
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.

Feb 02, 202144:57
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: @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
.

Jan 19, 202155:20
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?

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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.


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Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Jan 05, 202101:06:09
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.

Dec 22, 202035:40
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

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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Dec 08, 202033:54
Pancreatic and GI Cancer Genetic Counseling
Nov 24, 202038:07
Finding Your Voice Through Dravet Syndrome
Nov 10, 202001:17:26
Family History 2.0

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


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Check out other Patient Stories podcast episodes.

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


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Oct 27, 202041:57
Psychiatric Genetic Counseling

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

The Adapt Clinic on Twitter: @psychgenetcouns


Have thoughts or a related story you’d like to share?

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Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Oct 13, 202031:26
Reaching New Heights with Hemophilia

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

Bombardier Blood website 

Where to stream Bombardier Blood


Save One Life website

Follow Save One Life on Social Media

   Instagram: @saveonelife

   Twitter: @SaveOneLifeInc

   Facebook

   LinkedIn

   YouTube


National Hemophilia Foundation

Hemophilia Federation of America


Have thoughts or a related story you’d like to share?

Leave us a short voice message here! We may use your message on a future show.

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Sep 29, 202038:41
Slowing Down with Mitochondrial Myopathy

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

MitoAction.org


Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Sep 15, 202027:47
Lucas & Menkes Disease: From Diagnosis Day to The Disorder Channel

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 Foundation

Menkes' Families support group on Facebook

Courageous Parents Network 

The Disorder Channel

Disorder: The Rare Disease Film Festival

Daniel’s interviews for the Once Upon A Gene podcast

Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes

Films and Fatherhood

Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival

Have thoughts or a related story you’d like to share?

Leave us a short voice message here! We may use your message on a future show.

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

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

Sep 01, 202044:26
Learning Compassion through Rett Syndrome

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

Rettsyndrome.org 

Rett Syndrome Research Trust

Rett University: specializes  in teaching teachers, parents, caregivers,  doctors, family, friends how to teach folks with Rett syndrome to read and write. They also teach people with Rett one-on-one through private classes.

Girl Power 2 Cure: Rett Syndrome support organization that provides education tools, fundraising, and family support and connections

The Sibling Support Project


Other Related Links

Boodman, Sandra G. “She began to talk — then mysteriously fell silent. Months later her parents learned why.” Washington Post. October 12, 2019.


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Aug 18, 202001:19:54
Not Parent Expected (NPE): The Untethering & My Own Story

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

On Facebook


Other Related Resources

BFOR Study

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.

Aug 04, 202042:54
Once Upon a Gene: "A Little Love"

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. 

In this episode, "A Little Love," Effie interviews her friend Mckenzie Vander Hoek about her daughter Everly, who has a diagnosis of achondroplasia, the most common form of skeletal dysplasia (more commonly known as dwarfism). 

Links and Resources Mentioned 

This Changes Nothing

Everly’s Story - Dear friends and family letter

Little People of America Association

Evie + Lolo on Instagram - @evieandlolo


It was difficult to choose just one episode to share from Once Upon a Gene! You can find Once Upon a Gene on Twitter, Instagram, Facebook and on Apple Podcasts, Spotify, Stitcher, and Overcast. If you remember Effie's interview about her son Ford and want to hear more of Effie's story, listen to Effie's interview with her husband Casey: "The Dadurday Chronicles."

Jul 29, 202027:04
Confronting Ageism with Lynch Syndrome

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

FORCE

Fight CRC Biomarked


Related Grey Genetics News Corner blog posts:

Why Have You Never Heard of Lynch Syndrome?

What Can 23andme tell you about your colorectal cancer risk?


Other Patient Stories episodes related to Lynch syndrome:

She with Lynch - with Georgia Hurst

Family Health History and a Missed Diagnosis of Lynch Syndrome - with Ann Jeffers Brown

Living with Lynch Syndrome - with Melanie Breault


Read other Patient Stories on the Grey Genetics Patient Stories Page

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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Check out other Patient Stories podcast episodes.

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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Jul 21, 202047:51
Androgen Insensitivity Syndrome (AIS): Finding Self-Acceptance and Connection

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

AIS DSD Support Group

InterACT

Weiss, Rachel. “She sent 23andMe her DNA. They told her she's intersex.” Newsday. Updated December 31, 2019.

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Jul 07, 202031:11
Representation Matters: Increasing Diversity within Genetic Counseling

Representation Matters: Increasing Diversity within Genetic Counseling

Bryana Rivers is a second year genetic counseling student in the University of Cincinnati Genetic Counseling Program. As an African American female in a field that is >90% White, Bryana has a passion for increasing diversity within the profession of genetic counseling. Bryana talks about possible reasons for the lack of diversity within the field, ways this might be addressed, and shares her own path to the field of genetic counseling.

Story Reference Points:

Bryana’s experience at her first NSGC annual conference @ 1:45

Bryana’s path to the field of genetic counseling and experience as a GC Assistant at Hopkins @ 3:23

Why does diversity matter? @ 6:53

Bryana’s own experiences as a patient who is an ethnic minority @ 8:26

How race came up in one of Bryana’s genetic counseling sessions @ 11:06

Less obvious impacts of race on genetic counseling sessions @ 15:59

Why is genetic counseling so White? How can we diversify? @ 17:40

Representation Matters-- and the experience of attending the Minority Genetics Professionals Meetup at NSGC @ 21:56

Gender diversity within genetic counseling… a topic for another podcast?! @ 24:32

The makeup of Bryana’s genetic counseling class & contrast with her undergrad experience @ 26:31

What White female genetic counselors should understand about diversity @ 28:49


Links and Resources Bryana’s blog post:
”This Is What I Know. Now What Can We Do? – Racial Diversity in Genetic Counseling”

Articles cited by Bryana:

Studying the Needles in the Haystack: A Qualitative Study of African-American and Latino Genetic Counselors. Amanda Kass and Larissa Veres. Human Genetics Theses and Capstones. The Joan H. Marks Graduate Program in Human Genetics. May 2016.

Diversity in genetic counseling: past, present and future. Mittman Is. Downs K. Journal of Genetic Counseling. 2008 Aug;17(4):301-13.

Connect with Bryana on Twitter@GcBry


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

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

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Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointme

Jun 20, 202031:06
Patient Stories is taking a hiatus…. Second Season to come in July!

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

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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Apr 02, 202001:22
Between Worlds: Usher syndrome type III

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.


Rebecca Alexander’s website

Buy Rebecca's book: Not Fade Away: A Memoir of Senses Lost and Found

Connect with Rebecca on Social Media:

Rebecca on Twitter: @Reb_Alexander

Rebecca on Instagram: @reb_alexander

Rebecca on Facebook


Resources related to Usher syndrome

Usher Syndrome Coalition 

Usher Syndrome Society

Ava’s voice (in NJ)

The Foundation Fighting Blindness

The Hellen Keller National Center


Check out other Patient Stories podcast episodes.


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Mar 31, 202054:22
Talking about Prader-Willi syndrome with the host of Walking with Freya

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

Anne Fricke’s website

Walking With Freya podcast episodes

Anne’s poem “Kintsugi”

Purchase the writing journal Anne created: There Is Joy To Be Found Here; a writing journal for parents of children with special needs


Prader-Willi California Foundation (PWCF)

Prader-Willi Syndrome Association (USA)


Follow Anne’s podcast Walking with Freya on Social Media:

Walking with Freya on Instagram: @walkingwithFreya

Walking with Freya on Facebook


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Mar 17, 202039:17
Becoming BRCAStrong

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

BRCAStrong

Proactive Genes

My Gene Counsel


Connect with BRCAStrong on Social Media:

BRCAStrong on Instagram: @brcastrong

BRCAStrong on Facebook

BRCAStrong on YouTube


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Mar 03, 202058:32
Sandhoff Disease & A Spirit That Lives On

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)

BabyQuest Foundation


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here

Feb 18, 202044:34
A Later Abortion Story

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

PatientForward

RHAvote.com

Erika & Garin on Twitter: @RHAVote

Tolentino, Jia. “Interview With a Woman Who Recently Had an Abortion at 32 Weeks.” Jezebel. June 15, 20216.

Tolentino, Jia. “How Abortion Law in New York Will Change, and How It Won’t.The New Yorker. January 19, 2019.

The New York Times Editorial Board: A Woman’s Right (Series). The New York Times. December 28, 2018.

Tolentino, Jia. “Interview with Dr.The Hairpin. September 20, 2013.


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Feb 04, 202001:31:27
Walking with Freya: "Ep 53: Eleanor and Grey Genetics"

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

Jan 28, 202045:26
Unexpected Joys on the Scenic Route with Down Syndrome

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

Charlie and Milo on Facebook


Related Grey Genetics News Corner blog posts:

Mitigating Misinformation: Spreading Awareness for Down syndrome

NIPS: More Than Just a Sex Reveal

Adoption as an Option: The National Down Syndrome Adoption Network


Check out other Patient Stories podcast episodes.

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


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Jan 21, 202056:02
Down Syndrome & Adoption as an Option

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

Resources for Medical Professionals

Stephanie’s blog post on the Grey Genetics News Corner: Adoption as an Option: The National Down Syndrome Adoption Network

Stephanie’s interview on The Lucky Few podcast: Adoption & Down Syndrome w/Stephanie Thompson from the NDSAN


Connect with NDSAN on Social Media:

NDSAN on Instagram: @ndsan321

NDSAN on Twitter: @dsadoption

NDSAN on Facebook

NDSAN on LinkedIn


National Council on Disability Recommends More Regulation of NIPT.” Genome Web, October 23, 2019. 

Genetic Testing and the Rush to Perfection, National Council on Disability, October 23, 2019.


Donate to Patient Stories

Leave us a review on iTunes

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.

Jan 07, 202001:07:04
Patient Stories is taking a holiday break. More episodes in 2020!

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.

Dec 24, 201903:27
She with Lynch

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.

Dec 10, 201901:06:42
Family Health History and a Missed Diagnosis of Lynch Syndrome

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

FamHis

Surgeon General: My Family Health Portrait

NIH: Families SHARE

Family HealthLink

TapGenes


Links and Resources

Grey Genetics News Corner blog post: Why Have You Never Heard of Lynch Syndrome?

NSGC’s tool: Find a Genetic Counselor 

Schedule a genetic counseling appointment through Grey Genetics

Order a family history review through Grey Genetics

Connect with Ann on LinkedIn


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Nov 26, 201939:41
Not Parent Expected (NPE): DNA, Identity, and Changing Family History

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 Facebook

Alicia on Instagram: @notparentexpected

Alicia on Twitter: @npealicia


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Nov 12, 201931:38
Beyond Survivorship: A Fresh Chapter

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 

A Fresh Chapter

Terri’s story on Grey Genetics' Patient Stories page

Terri’s talk at Stanford Medicine X 2013

Man’s Search for Meaning on IndieBound.


Connect with A Fresh Chapter on Social Media:

On Twitter: @afreshchapter

On Instagram: @afreshchapter

On Facebook

On LinkedIn


Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page. If you'd like to share your story on this page, email us at patientstories@greygenetics.com


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Oct 29, 201932:25
Losing, Living, and Laughing

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 website

Chelsea’s blog: Daughters of Sick Parents

Follow Chelsea on Instagram: @_ChelsWhoElse_

Follow Daughters of Sick Parents on Instagram: @daughtersofsickparents


Check out other Patient Stories podcast episodes

Read other Patient Stories on the Grey Genetics Patient Stories Page


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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast


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

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Oct 15, 201928:11
Black and BRCA Positive

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

Erika’s website

A selection of Erika’s related writings:

“Genetic Counselors Of Color Tackle Racial, Ethnic Disparities In Health Care”

“Phantom Pains: Life after a double mastectomy”

“What No One Tells You About Your BRCA Mutation”

“This Is How the American Healthcare System Is Failing Black Women”

Connect with Erika on Social Media:

Erika on Twitter: @quidditch424

Erika on Instagram: @quidditch424

Related Grey Genetics News Corner blog posts:

ASBS recommends genetic testing for ALL women with breast cancer

NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer

What Can 23andMe Results Tell You About Your Breast Cancer Risk?

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

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

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern.

Oct 01, 201948:24