
GRIN2B: An Odyssey from Diagnosis to Evacuation
Nadia Billous is a mother of two young sons, including 9-year-old Andryusha who was diagnosed with GRIN2B-related neurodevelopmental disorde...
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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...

Nadia Billous is a mother of two young sons, including 9-year-old Andryusha who was diagnosed with GRIN2B-related neurodevelopmental disorde...

This episode was originally published in August 2018. Last Sunday, Sophie ran the London Marathon—her first of 36 marathons she plans to run...

When Ushta was pregnant with her third child, she found herself being told which tests she would be having done—rather than being offered op...

Eleanor first interviewed Heather in 2018 . At that time, Heather was several years out from completing a prophylactic mastectomy and oophor...

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...

Eleanor first interviewed Melanie in 2018. She was 29 years old at the time and had received a diagnosis of Lynch syndrome just before turni...

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

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 aort...

Eleanor first interviewed Abigail in 2019 when she was still a second year genetic counseling student. Abigail shared the story of her diagn...

Alexandra Parker is a senior student at Sarah Lawrence College. Alex describes her journey to a diagnosis of Hypermobile Ehlers-Danlos Syndr...

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 childre...

At 20 weeks of pregnancy, Jill learned that her son Alex had a diaphragmatic hernia. And a ventricular septal defect. An amniocentesis revea...

When Marleah was 8 years old, her mother was diagnosed with breast cancer. When Marleah was in college, her mother had genetic testing done...

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...

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 b...

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...

While Carlos was studying Biology in the U.S., his father was diagnosed with Philadelphia Chromosome positive Acute Lymphocytic Leukemia (Ph...

A couple gets engaged. They are both of Ashkenazi Jewish ancestry and read that carrier testing is recommended. They rightly assume that the...

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 don...

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 tha...

Silvia’s son Nicky was born with a devastating condition called Epidermolysis Bullosa (EB). On her websites and in her books, she describes...

As a junior in high school, Mikaela played varsity softball. When her performance started to decline and she wasn’t feeling well, she was in...

At her 20 week ultrasound, Chelsea learned of a likely diagnosis of Trisomy 18. Her Non-Invasive Prenatal Screening (NIPS) results then also...

Brianne Kirkpatrick returns to the podcast to give us an update on changes in direct-to-consumer (DTC) and ancestry genetic testing over the...

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...

When Kathryn graduated from Northwestern University's Graduate Program in Genetic Counseling in 2009, high-risk programs related to GI Cance...

Emily Richins and Chris Emineth connected through a Facebook support group for parents of children with Dravet Syndrome, a rare and severe f...

Certified genetic counselor Jamie L’Heureux shares her personal story of trying to collect family history information surrounding her father...

Leslie Ordal, MSc, CGC, is a certified genetic counselor who specializes in psychiatric genetic counseling. Leslie discusses the importance...

Chris Bombardier was born with a severe form of Hemophilia B. He was also an active, athletic kid, passionate about baseball. As a young adu...

When Karen Fieri was 30 years old, she had trouble healing after a hysterectomy. The pain that followed eventually led to a diagnosis of Mit...

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 dia...

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 a...

Last year, Maggie Chenard (aka “The Mindful NPE”) received ancestry testing as a gift from her adult children. Her results were not at all w...

Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast, Once Upon a Gene . Host Effie Parks pre...

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...

When Dawn was 15 years old, her parents were given a diagnosis for her which explained why her experience with puberty was different from th...

Bryana Rivers is a second year genetic counseling student in the University of Cincinnati Genetic Counseling Program. As an African American...

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 excit...

When Rebecca Alexander was 12 years old, she had trouble seeing the blackboard. She made her way from an optometrist to an ophthalmologist a...

As a newborn, Anne Fricke’s second daughter Freya had trouble nursing, slept really soundly, and had hypotonia (low muscle tone). At three a...

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...

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...

Erika and Garin were 30 weeks into a complicated pregnancy when they learned that their pregnancy was not viable. Erika was denied an aborti...

Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast that we think some of our listeners may...

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...

Stephanie Thompson still vividly remembers when her son Christopher, now 27 years old, received a diagnosis of Down syndrome. As a young wom...

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...

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 ha...

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...