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…

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 …

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. …

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 abou…

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 Col…

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 …

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 f…

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’…

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 hormon…

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 neon…

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 deci…

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 inclu…

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! (Inte…

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! …

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 fa…

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 fami…

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 …

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 d…

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 pers…

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 a…

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…

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 certi…

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 acr…

When Kathryn graduated from Northwestern University's Graduate Program in Genetic Counseling in 2009, high-risk programs related to GI Cancer were new, as was universal tumor testing. Kathryn shares how she worked with GIs to build cancer/high-risk GI programs in multiple locations. She discusses the strength of a multidisciplinary approach to pati…

Emily Richins and Chris Emineth connected through a Facebook support group for parents of children with Dravet Syndrome, a rare and severe form of epilepsy characterized by frequent, prolonged seizures, developmental delay, and other health problems. They share how Dravet has affected their lives and relationships, why the current Covid era is fami…

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 …

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…

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, follow…

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 thing…

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, regres…

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 sh…

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) St…

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 disa…

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 onc…

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 diagn…

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, …

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 …

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 w…

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 the…

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 feel…

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…

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 t…

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…

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 Associ…

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 w…

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 …

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 sprea…

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 sup…

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 mea…