Podcasts by Patient Stories with Grey Genetics
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.
Further podcasts by Grey Genetics
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A Waiting Game & Another Diagnosis from 2023-12-12T11:00
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 f...
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Breaking Taboos & Leaving Room for Grief from 2023-11-28T11:36:50
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 ...
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Navigating the Uncertainty of a BRCA Mutation from 2023-11-14T14:21:58
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 BRC...
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Bardet-Biedl Syndrome and the Value of a Diagnosis from 2023-10-31T14:57:08
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...
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Coming Soon: Patient Stories, Season 3 from 2023-10-24T10:00
Patient Stories is finally coming back with a new season.
Do you want to share your story? Email us at Listen
Patient Stories is taking a hiatus…. Please take 1 minute to answer our survey! from 2021-04-13T02:13:22
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 c...
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Cancer, Genomics, and The Weight of Many Decisions from 2021-03-30T14:30:17
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 le...
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A Roll of the Dice from 2021-03-16T12:59:43
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...
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A Mother's Journey with Sickle Cell Disease from 2021-03-02T15:40:09
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 not...
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Far Away with Fabry from 2021-02-16T16:15:50
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 ...
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Epidermolysis Bullosa: Great Pain and Gigantic Love from 2021-02-02T16:44:18
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 bl...
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The Loneliness of Living with Von Hippel-Lindau Syndrome from 2021-01-19T20:38:33
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 seco...
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Changing the Narrative for Trisomy 18 from 2021-01-05T18:56:51
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 hu...
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Finding Support for Unexpected DNA Discoveries from 2020-12-22T16:53:44
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 ...
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A Long Diagnostic Odyssey to Ehlers-Danlos Syndrome from 2020-12-08T14:09:09
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...
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Pancreatic and GI Cancer Genetic Counseling from 2020-11-24T13:19:49
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 sh...
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Finding Your Voice Through Dravet Syndrome from 2020-11-10T20:18:06
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 s...
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Family History 2.0 from 2020-10-27T09:00
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), des...
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Psychiatric Genetic Counseling from 2020-10-13T09:00
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 tes...
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Reaching New Heights with Hemophilia from 2020-09-29T14:00:11
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 an...
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Slowing Down with Mitochondrial Myopathy from 2020-09-15T14:13:20
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...
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Lucas & Menkes Disease: From Diagnosis Day to The Disorder Channel from 2020-09-01T11:41:56
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 ...
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Learning Compassion through Rett Syndrome from 2020-08-18T17:03:14
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 r...
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Not Parent Expected (NPE): The Untethering & My Own Story from 2020-08-04T12:52:15
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 (N...
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Once Upon a Gene: "A Little Love" from 2020-07-29T17:01:43
Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast, Once Upon a Gene. Host Effie Parks previously sh...
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Confronting Ageism with Lynch Syndrome from 2020-07-21T15:41:54
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 an...
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Androgen Insensitivity Syndrome (AIS): Finding Self-Acceptance and Connection from 2020-07-07T09:00
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 recommendatio...
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Representation Matters: Increasing Diversity within Genetic Counseling from 2020-06-20T13:48:05
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 passi...
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Patient Stories is taking a hiatus…. Second Season to come in July! from 2020-04-02T18:00
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 ...
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Between Worlds: Usher syndrome type III from 2020-03-31T09:00
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 ...
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Talking about Prader-Willi syndrome with the host of Walking with Freya from 2020-03-17T15:33:01
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 Prad...
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Becoming BRCAStrong from 2020-03-03T13:32:03
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,
Sandhoff Disease & A Spirit That Lives On from 2020-02-18T10:00
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 t...
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A Later Abortion Story from 2020-02-04T10:00
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 tra...
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Walking with Freya: "Ep 53: Eleanor and Grey Genetics" from 2020-01-28T22:43
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: Listen
Unexpected Joys on the Scenic Route with Down Syndrome from 2020-01-21T10:00
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 abo...
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Down Syndrome & Adoption as an Option from 2020-01-07T10:00
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 sh...
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Patient Stories is taking a holiday break. More episodes in 2020! from 2019-12-24T10:00
Patient Stories is taking a break this week for the holidays. We'll be back in 2020 with new episodes.
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She with Lynch from 2019-12-10T14:54:49
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-as...
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Family Health History and a Missed Diagnosis of Lynch Syndrome from 2019-11-26T10:00
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 exper...
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Not Parent Expected (NPE): DNA, Identity, and Changing Family History from 2019-11-12T10:00
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 bio...
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Beyond Survivorship: A Fresh Chapter from 2019-10-29T13:28:14
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 negati...
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Losing, Living, and Laughing from 2019-10-15T09:00
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 ...
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Black and BRCA Positive from 2019-10-01T14:38:13
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 wa...
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DNA Today, Episode #173: "Eleanor Griffith on Grey Genetics" from 2019-09-20T15:52:27
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: Listen
Resurrection Lily: A BRCA Memoir from 2019-09-17T09:00
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
A Short Life with Tay Sachs & Advocating for Preconceptual Carrier Screening from 2019-09-03T11:48:42
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 ra...
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Can 23andMe Have It Both Ways? from 2019-08-27T14:34:57
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 <...
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Living a Full Life with SMA Type 2 from 2019-08-20T09:00
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:...
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A Window into Cri du Chat from 2019-08-06T09:30:04
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 exp...
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Newborn Screening and Support for Glutaric Acidemia Type 1 (GA-1) from 2019-07-23T09:30:22
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 tw...
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Fragile X: The Leading Genetic Cause of Autism from 2019-07-09T09:30:03
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...
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Wilson Disease: When early diagnosis makes all the difference from 2019-06-25T09:30:02
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 d...
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Men Get Breast Cancer Too! from 2019-06-11T09:30:05
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 Harve...
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“I have FH, FH doesn’t have me!” from 2019-05-28T09:30:04
Fran Emmolo Gamella is a young mother of two living with Familial Hypercholesterolemia. She was diagnosed with FH in her mid-20s but it wasn’t until she had a heart attack at age 31 that she became...
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Defying Cystic Fibrosis One Mountain at a Time [Rebroadcast] from 2019-05-14T09:30:01
We are re-sharing an interview that has been a favorite for many listeners. May is Cystic Fibrosis Awareness Month, and Sophie is embarking on another adventure and fitness challenge. This time, it...
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Living and Learning with Huntington's from 2019-04-30T09:30:01
After years of misdiagnoses, Seth Rotberg’s mother was finally diagnosed with Huntington’s Disease (HD) when he was 15 years old. At the age of 20, Seth had genetic testing and also tested positive...
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Gratitude After Gastrectomy from 2019-04-16T09:30:04
When Cherielee was 26 years old, she was found to carry a mutation in the CDH1 gene. Her genetic diagnosis led her down a path that included a prophylactic gastrectomy at the age of 30, foll...
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Fitness, Beauty, and Relationships in the BRCA World from 2019-04-02T09:30:01
Sarah Messali tested positive for a mutation in the BRCA2 gene when she was 18 years old. By her early 20s, she was getting regular breast screenings. Watching her mother go through a diagno...
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Trisomies, Pregnancy Loss—And Options Counseling! from 2019-03-19T09:30:01
Janine Mash is a certified genetic counselor and the founder of San Francisco Genetic Counseling, a private practice genetic counseling service. She specializes in reproductive and prenatal genetic...
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MUTYH, MAP, and Colorectal Cancer from 2019-03-05T12:30:02
At just 35 years of age, Stacey Wilson was diagnosed with Stage III Colorectal Cancer. Nine months later, with surgery and chemotherapy behind her, Stacey met with a genetic counselor, had heredita...
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Homocystinuria: A Rare Disease Often Missed on Newborn Screening from 2019-02-19T10:30:02
Danaé was 10 years old when her younger brother’s lens dislocation led to her own diagnosis of Homocystinuria (HCU). When Danaé was 24 years old, she developed a blood clot in her wrist that served...
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New in the Family: Ford and CTNNB1 from 2019-02-05T10:30
Effie and her husband’s initial concerns about their son Ford were brushed aside. But by the time Ford was 3 months old, he was failing to thrive. Soon, Effie was initiated into the world of specia...
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Genetic Counseling: Past, Present and Future from 2019-01-22T10:30
Ellen Matloff spent the first part of her career in Genetic Counseling at the Yale School of Medicine, where she served as the Director of the Cancer Genetic Counseling Program for 18 years. She wa...
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Support Patient Stories! from 2019-01-17T19:13:56
Some of our listeners have asked how they can help support Patient Stories. You can now donate to Patient Stories online!
Looking ...
To Gift or Not to Gift that At-Home DNA Testing Kit? from 2018-12-11T10:30:02
Over 20 million people are estimated to have done an at-home genetic test, most focused around ancestry testing, and the numbers jump each holiday season. Brianne Kirkpatrick is a certified genetic...
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PKU: A Life-Giving Diagnosis from 2018-11-27T10:30:04
Kevin Alexander is a professional videographer. He also has an inherited metabolic condition, PKU (phenylketonuria). Thanks to Newborn Screening, Kevin was diagnosed with PKU just 9 days after birt...
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Surviving Pancreatic Cancer with the Help of Family, Faith, and Genetics from 2018-11-13T10:30:03
At 43 years old, Elise Roth Tedeschi was diagnosed with Stage IV pancreatic cancer. She subsequently learned that she carried the same mutation in the BRCA2 gene that her sister Cari, a breast canc...
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BRCA Positive and the Hard Choices that Follow from 2018-10-30T09:30:01
Darlena Cunha is a 36-year-old freelance writer and journalism professor at the University of Florida. When Darlena was in her early 30s, her mother, in her 50s with no personal history of breast c...
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Living with and Beyond Early-Onset Breast Cancer from 2018-10-16T09:30:04
At just 34 years old, Karla felt a lump that turned out to be breast cancer, first diagnosed as stage 2 and then as stage 3. Like many young women with breast cancer, Karla’s genetic testing result...
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Building a Community of Hope and Support around Li-Fraumeni syndrome from 2018-10-09T09:00:01
Jenn Perry grew up surrounded by cancer. She lost her mother to breast cancer, and she and her younger sister later also developed breast cancer. At age 42, she received a genetic diagnosis that ex...
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Losing My Mother, Previving For My Children from 2018-10-02T09:30:01
At just 13, Heather lost her mother to breast cancer. Fifteen years later, a mother herself, Heather had genetic testing done and learned that she carried a mutation in a BRCA gene. Heather shares ...
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Sickle Cell Disease: Invisible and Unpredictable from 2018-09-25T09:30:02
Mary Adeturinmo is a 25-year-old University graduate who studied Architecture. She also has Sickle Cell Disease. Due to health challenges, she has spent a lot of time in recovery as well as promoti...
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Ovarian Cancer, RAD51D, and Life Twice Over from 2018-09-11T09:30:01
Tawny Rother is 34 years old, recently engaged and a mom to three children. Two years ago, she lost her mother to ovarian cancer. Her mother carried a mutation in a gene called RAD51D, which increa...
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Fighting for Sons with Duchenne from 2018-08-28T13:14:16
As a new mother and young college student, Jennifer McNary noticed that her first son, Austin, wasn’t meeting his developmental milestones, but it wasn’t until he was 3 years old that Austin was di...
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Defying Cystic Fibrosis One Mountain at a Time from 2018-08-14T09:30:04
Sophie Grace Holmes was born with 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 organ...
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Facing the World with Cleft Lip & Cleft Palate from 2018-07-31T09:00:04
Charlotte Peinhardt was born with a cleft lip and cleft palate in a small town in Alabama in the 1980s. Her parents’ surprise in the delivery room was later followed by her own realization in eleme...
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New project coming from 2018-07-17T09:30:03
Patient Stories is on summer break this week, so we don' t have a new episode to share with you. But we do want to tell you about a related pro...
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Growing in Empathy: Learning to Take My Own Advice and Seeing the Person Before the Patient from 2018-07-03T09:30:01
Genetic Counselor Christina Kresge talks about her most memorable cases from providing pediatric and adult genetic counseling services to an underserved population in and around Newark, NJ over the...
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Genetic Counselors as Patient Advocates with Caroline Lieber from 2018-06-19T18:22:02
Caroline Lieber was on a pre-med track in college in 1973 when she first heard about the new field of genetic counseling. Her career plans changed that day. Forty-five years later, after 18 years o...
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A Fatal Family Disease & the Flip of a Coin from 2018-06-05T09:30:04
Rachelle Dixon shares her story of growing up around "the family disease," eventually diagnosed as HSAN1E--a rare, hereditary, degenerative neurological condition that claimed the lives of her moth...
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Familial Hypercholesterolemia: The Symptomless Sickness from 2018-05-22T09:30:02
Colleen McCready shares her lifelong struggle with Familial Hypercholesterolemia, a condition that affects ~1/250 individuals yet is undiagnosed in an estimated 90% of those affected. She discusses...
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Making Sense of a Senseless Death from 2018-05-08T09:30:02
The first genetic counselor to work within a Medical Examiner’s Office, Nori Williams, MS, CGC talks about how she works with families after the loss of a loved one from Sudden Unexplained Death th...
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Living with Lynch syndrome - Melanie Breault from 2018-04-24T12:22:35
Melanie Breault discusses the impact Lynch syndrome has on her life and how it affects her views on women's health, disparities in healthcare, and patient care.
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Patient Stories - Episode 0 from 2018-04-13T19:32:33
Grey Genetics is bringing you a new podcast!
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