Patient Stories with Grey Genetics

By Grey Genetics

What's Patient Stories with Grey Genetics about?

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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Patient Stories with Grey Genetics episodes:

04.09.2024
Navigating Genetic Testing in Pregnancy & the Path to FiND Genetics
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...
03.26.2024
Next Chapter: Losing My Mother, Previving For My Children
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...
03.12.2024
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:...
02.27.2024
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...
02.13.2024
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...
01.30.2024
A Late Diagnosis of Cutis Laxa and the Creation of ThinkGenetics
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...
01.16.2024
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...
01.02.2024
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...
12.12.2023
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...
11.28.2023
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...
11.14.2023
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...
10.31.2023
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...
10.24.2023
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 [email protected]. You will be interviewed by Eleanor, a genetic counseling student, or..... you could also be interviewed by a loved...
04.13.2021
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...
03.30.2021
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...
03.16.2021
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...
03.02.2021
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...
02.16.2021
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...
02.02.2021
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...
01.19.2021
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...
01.05.2021
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...
12.22.2020
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...
12.08.2020
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...
11.24.2020
Pancreatic and GI Cancer Genetic Counseling
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...
11.10.2020
Finding Your Voice Through Dravet Syndrome
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...
10.27.2020
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....
10.13.2020
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...
09.29.2020
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...
09.15.2020
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...
09.01.2020
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...
08.18.2020
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...
08.04.2020
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...
07.29.2020
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...
07.21.2020
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...
07.07.2020
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...
06.20.2020
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...
04.02.2020
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...
03.31.2020
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...
03.17.2020
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...
03.03.2020
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...
02.18.2020
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...
02.04.2020
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...
01.28.2020
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...
01.21.2020
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...
01.07.2020
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...
12.24.2019
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...
12.10.2019
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...
11.26.2019
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...
11.12.2019
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...
10.29.2019
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...

What's Patient Stories with Grey Genetics about?

Download our free app to listen on your phone

Patient Stories with Grey Genetics episodes:

Navigating Genetic Testing in Pregnancy & the Path to FiND Genetics

Next Chapter: Losing My Mother, Previving For My Children

Red Herrings, the Diagnostic Purgatory & Mitochondrial Disease

Next Chapter: Living with Lynch Syndrome

A Later Abortion Story

A Late Diagnosis of Cutis Laxa and the Creation of ThinkGenetics

Next Chapter: A Career in Genetic Counseling

Hypermobile Ehlers-Danlos Syndrome: An Invisible Condition

A Waiting Game & Another Diagnosis

Breaking Taboos & Leaving Room for Grief

Navigating the Uncertainty of a BRCA Mutation

Bardet-Biedl Syndrome and the Value of a Diagnosis

Coming Soon: Patient Stories, Season 3

Patient Stories is taking a hiatus…. Please take 1 minute to answer our survey!

Cancer, Genomics, and The Weight of Many Decisions

A Roll of the Dice

A Mother's Journey with Sickle Cell Disease

Far Away with Fabry

Epidermolysis Bullosa: Great Pain and Gigantic Love

The Loneliness of Living with Von Hippel-Lindau Syndrome

Changing the Narrative for Trisomy 18

Finding Support for Unexpected DNA Discoveries

A Long Diagnostic Odyssey to Ehlers-Danlos Syndrome

Pancreatic and GI Cancer Genetic Counseling

Finding Your Voice Through Dravet Syndrome

Family History 2.0

Psychiatric Genetic Counseling

Reaching New Heights with Hemophilia

Slowing Down with Mitochondrial Myopathy

Lucas & Menkes Disease: From Diagnosis Day to The Disorder Channel

Learning Compassion through Rett Syndrome

Not Parent Expected (NPE): The Untethering & My Own Story

Once Upon a Gene: "A Little Love"

Confronting Ageism with Lynch Syndrome

Androgen Insensitivity Syndrome (AIS): Finding Self-Acceptance and Connection

Representation Matters: Increasing Diversity within Genetic Counseling

Patient Stories is taking a hiatus…. Second Season to come in July!

Between Worlds: Usher syndrome type III

Talking about Prader-Willi syndrome with the host of Walking with Freya

Becoming BRCAStrong

Sandhoff Disease & A Spirit That Lives On

A Later Abortion Story

Walking with Freya: "Ep 53: Eleanor and Grey Genetics"

Unexpected Joys on the Scenic Route with Down Syndrome

Down Syndrome & Adoption as an Option

Patient Stories is taking a holiday break. More episodes in 2020!

She with Lynch

Family Health History and a Missed Diagnosis of Lynch Syndrome

Not Parent Expected (NPE): DNA, Identity, and Changing Family History

Beyond Survivorship: A Fresh Chapter