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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Not Parent Expected (NPE): ...

08.04.2020

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 ...

Patient Stories with Grey Genetics episodes:

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 ...
08.06.2019 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 ...
05.28.2019 “I have FH, FH doesn’t have me!” 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 really serious about her ...
05.14.2019 Defying Cystic Fibrosis One Mountain at a Time [Rebroadcast] 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’s Crossing For A Cure—80 miles on a paddle ...
04.30.2019 Living and Learning with Huntington's 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 for HD. Initially, Seth stayed in the ...
04.16.2019 Gratitude After Gastrectomy 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, followed by multiple complications. Today, ...
04.02.2019 Fitness, Beauty, and Relationships in the BRCA World 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 diagnosis of triple negative breast cancer solidified ...
03.19.2019 Trisomies, Pregnancy Loss—And Options Counseling! 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 counseling, which means that pregnancy loss and trisomies specifically have come up ...
03.05.2019 MUTYH, MAP, and Colorectal Cancer 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 hereditary cancer testing done, and received an explanation for ...
02.19.2019 Homocystinuria: A Rare Disease Often Missed on Newborn Screening 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 as a wake-up call for ...
02.05.2019 New in the Family: Ford and CTNNB1 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 special needs and the diagnostic ...
01.22.2019 Genetic Counseling: Past, Present and Future 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 was also one of the plaintiffs ...
01.17.2019 Support Patient Stories! Some of our listeners have asked how they can help support Patient Stories. You can now donate to Patient Stories online! Looking for another way to support the show? Leave us a review on iTunes or share our episodes on ...
12.11.2018 To Gift or Not to Gift that At-Home DNA Testing Kit? 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 counselor and the founder of Watershed DNA, which includes ...
11.27.2018 PKU: A Life-Giving Diagnosis 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 birth and immediately put on dietary treatment. With a carefully monitored diet, ...
11.13.2018 Surviving Pancreatic Cancer with the Help of Family, Faith, and Genetics 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 cancer survivor, had previously been found to ...
10.30.2018 BRCA Positive and the Hard Choices that Follow 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 cancer but a significant family history of ...
10.16.2018 Living with and Beyond Early-Onset Breast Cancer 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 results were negative, leaving ...
10.09.2018 Building a Community of Hope and Support around Li-Fraumeni syndrome 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 explained the pattern of cancer in ...
10.02.2018 Losing My Mother, Previving For My Children 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 her experience as a previvor--from genetic ...
09.25.2018 Sickle Cell Disease: Invisible and Unpredictable 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 promoting and raising awareness for Sickle Cell Disease. ...

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