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

Resurrection Lily: A BRCA M...

09.17.2019

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 ...

Patient Stories with Grey Genetics episodes:

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 ...
01.08.2019 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% Caucasian, Bryana has a passion for increasing diversity within the profession of ...
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. ...
09.11.2018 Ovarian Cancer, RAD51D, and Life Twice Over 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 increases the risk for ovarian ...
08.28.2018 Fighting for Sons with Duchenne 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 diagnosed with Duchenne Muscular Dystrophy. The same ...
08.14.2018 Defying Cystic Fibrosis One Mountain at a Time 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 organizing her ...
07.31.2018 Facing the World with Cleft Lip & Cleft Palate 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 elementary school that she looked ...
07.17.2018 New project coming 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 project we’re working on.We're also sharing a few clips from ...
07.03.2018 Growing in Empathy: Learning to Take My Own Advice and Seeing the Person Before the Patient 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 past eight years. She also shares her own recent experience as ...
06.19.2018 Genetic Counselors as Patient Advocates with Caroline Lieber 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 of clinical experience, 15 years as ...
06.05.2018 A Fatal Family Disease & the Flip of a Coin 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 mother and two of her siblings. Rachelle is the President and Co-Founder of ...
05.22.2018 Familial Hypercholesterolemia: The Symptomless Sickness 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 how she was diagnosed, how FH has impacted her life, issues surrounding genetic ...
05.08.2018 Making Sense of a Senseless Death 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 that turns out to have an underlying ...
04.24.2018 Living with Lynch syndrome - Melanie Breault 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. Links and Resources AliveAndKickn FORCE Find Melanie on Twitter and Instagram: @mbreaul1 Check out ...
04.13.2018 Patient Stories - Episode 0 Grey Genetics is bringing you a new podcast!