This episode was originally published in August 2018. Last Sunday, Sophie ran the London Marathon—her first of 36 marathons she plans to run in 36 days, as she raises money for Cystic Fibrosis Trust. You can follow Sophie's progress on Instagram @sophiegraceholmes Sophie Grace Holmes was born with Classic Cystic Fibrosis (CF). When she was 19, a doctor told her she was going to die within a few years. She set out to prove him wrong, quitting her office job and organizing her life around...

When Ushta was pregnant with her third child, she found herself being told which tests she would be having done—rather than being offered options and having them explained to her. As a genetic counselor working in reproductive genetics, she had also started fielding many questions from individuals looking for more insight and direction in a time of expanding prenatal testing options. These experiences led her to leave her role in industry and start her own company: FiND Genetics, an...

Eleanor first interviewed Heather in 2018. At that time, Heather was several years out from completing a prophylactic mastectomy and oophorectomy related to her BRCA1 mutation and was living in Singapore. Her children were ages 10, 12, and 13. Heather shared her story of losing her mother to BRCA1-related breast cancer when she was only 13 and her determination to learn her risks and take all the steps she could to be there for her children. Today, Heather is living in Spain and her children...

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...

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...

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...

Dave and one of his younger sisters were both born with heart defects that required surgery. When Dave was 60, he was diagnosed with an aortic aneurysm. By this time, he had a daughter, Dawn Laney, who was a genetic counselor and professor at the Emory School of Medicine. With Dawn’s help, Dave finally arrived at a diagnosis of Cutis Laxa for both himself and his sister. Motivated to help patients receive a diagnosis faster, Dave leveraged his decades long career working with technology in...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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)...

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...

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,...

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...

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...

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...

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...

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...