Patient Stories with Grey Genetics

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Grey Genetics is no longer active on social media.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.

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.

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.

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.

Patient Stories is finally coming back with a new season.

Do you want to share your story? Email us at [email protected]. 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

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

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

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

While Carlos was studying Biology in the U.S., his father was diagnosed with Philadelphia Chromosome positive Acute Lymphocytic Leukemia (Ph+ALL) in Mexico. The same condition which he’d just learned about in school and had captured his intellectual curiosity was also now very personal. Carlos shares how genetic testing opened up options for his father’s course of treatment but also introduced myriad decisions to be made about his father’s care, the burden of which fell almost entirely upon his mother. He discusses how he thinks a genetic counselor could have helped the family through these many decisions and also shares his perspective on the importance of end of life care.

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

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

Check out other Patient Stories podcast episodes.

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

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

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

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

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

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

A 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.

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.

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.