Patient Stories with Grey Genetics

By Grey Genetics

Medicine

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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LAST EPISODE

Patient Stories is taking a...

04.13.2021

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 ...

Patient Stories with Grey Genetics episodes:

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, ...
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 ...
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 ...
10.15.2019 Losing, Living, and Laughing Chelsea London Lloyd is an actress and comedian living in L.A. She holds a BA in theatre from USC. Growing up, her dad had ALS and her mom had breast cancer. Her mother’s breast cancer returned 17 years later at ...
10.01.2019 Black and BRCA Positive When Erika was 7 years old, her mother was diagnosed with breast cancer; her mother was only 28 years old. At age 42, Erika’s mother was diagnosed with breast cancer for a second time and she was finally offered BRCA ...
09.20.2019 DNA Today, Episode #173: "Eleanor Griffith on Grey Genetics" Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast related to Genetics that we think some of our listeners may enjoy: DNA Today: A Genetics Podcast, hosted by genetic counseling student Kira Dineen. ...
09.17.2019 Resurrection Lily: A BRCA Memoir Amy Byer Shainman, also known as the BRCA Responder, is a BRCA1 mutation carrier and previvor as well as a passionate patient advocate providing education and support for others with BRCA mutations and other hereditary cancer syndromes. Amy has appeared ...
09.03.2019 A Short Life with Tay Sachs & Advocating for Preconceptual Carrier Screening Shannon’s son James was a little slower than most babies to meet his developmental milestones, but it wasn’t until after he had his first seizures that he was finally diagnosed with Tay-Sachs, a rare, inherited, autosomal recessive condition that progressively ...
08.27.2019 Can 23andMe Have It Both Ways? Like millions of other Americans, Dorothy Pomerantz took a 23andMe test on a whim. And like many other Americans, she received some results back that came as a surprise. Just a few weeks ago, she wrote an article in STAT ...
08.20.2019 Living a Full Life with SMA Type 2 Cory and her two sisters were all born with Spinal Muscular Atrophy (SMA) Type II, a hereditary and progressive neuromuscular disorder. Although she has never walked, Cory is living a full life: she enjoyed school; was an early adopter of ...
08.20.2019 Living a Full Life with SMA Type 2 Cory and her two sisters were all born with Spinal Muscular Atrophy (SMA) Type II, a hereditary and progressive neuromuscular disorder. Although she has never walked, Cory has lived a full life: she enjoyed school; was an early adopter of ...
08.06.2019 A Window into Cri du Chat Leah Moore’s oldest child, Jordan, was diagnosed with Cri du Chat syndrome when she was 18 months old. The diagnosis ushered their family into an unexpected world that meant radically different expectations for their daughter’s life. Thanks to Early Intervention, ...
07.23.2019 Newborn Screening and Support for Glutaric Acidemia Type 1 (GA-1) Five days after Allison’s son Isaac was born, she received a phone call from her physician’s office, telling her that her son had received positive test result on Newborn Screening (NBS). A long two days later, they were meeting with ...
07.09.2019 Fragile X: The Leading Genetic Cause of Autism When Missy Zolecki learned that she had a family history of Fragile X syndrome (FXS), she sought out carrier testing, thinking that she and her fiancé would not have children if she learned she was at risk for having a ...
06.25.2019 Wilson Disease: When early diagnosis makes all the difference When Abigail Patenaude was 16 years old, routine blood work showing elevated LFTs (liver function tests) led to a diagnosis of Wilson Disease, an autosomal recessive condition which is more often diagnosed much later in life (if at all) after ...
06.11.2019 Men Get Breast Cancer Too! When Vicki was diagnosed with breast cancer for the third time at age 47, she was finally offered genetic testing and learned she carried a mutation in the BRCA2 gene. When her brother Harvey learned there was a 50/50 chance ...

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