A retired Navy veteran shares his experience of living with attenuated familial adenomatous polyposis (AFAP).
All tagged patient advocacy
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
Part two of our interview with Victoria Gray, the first person who has been cured with a genetic condition (sickle cell) using CRISPR. She shares the process of the CRISPR treatment and her (lack of) symptoms.
#287 Familial Hypercholesterolemia with Jess and Julie
Jess shares her family’s unexpected diagnosis with Familial Hypercholesterolemia and she is joined by her genetic counselor who was instrumental in the process.
#264 XXY (Klinefelter Syndrome) with Ryan Bregante
Living with XXY founder Ryan Bregante shares his personal experience with the condition and the impact of his organization on the community.
#263 Ehlers-Danlos Syndromes with Izzy Kornblau
Cardio Genetic Counselor, YouTuber, and Patient Advocate Izzy Kornblau shares her expertise in Ehlers-Danlos Syndromes, she has personally been diagnosed with hypermobile EDS.
#248 Ornithine Transcarbamylase (OTC) Deficiency
Researchers, Dr. Aimée Dudley and Dr. Andrea Gropman, and patient advocate, Tresa Warner, discuss the most common urea cycle disorder.
#240 Young Adult Patient Advocacy with Sneha Dave
Sneha Dave, Founder and Executive Director of Generation Patient, discusses her experience as a young adult patient advocate for ulcerative colitis.
#219 It Happened To Me Podcast: Genetic Counselors for Rare Diseases
Episode drop of “It Happened To Me” with Kira Dineen sharing how genetic counselors can help people with rare diseases.
#149 CF Series: Gunnar Esiason on Patient Advocacy
Rare disease patient leader shares about his journey with cystic fibrosis and how he utilizes his experience to advocate for the community.
#102 Seth Rotberg on Huntington Disease
Patient Advocate and Motivational Speaker shares his journey with Huntington Disease.
#98 Lydia Seiders on Aplastic Anemia
Maryland State Ambassador for NORD brings her passion for patient advocacy for the rare disease community including her daughter known as #EmmaStrong.
#96 Jim Cavan on Backpack Health
A mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.
#91 Ellen Matloff on Direct-To-Consumer Genetic Testing
DTC tests (23andMe, Ancestry etc.) versus medical grade testing, and My Gene Counsel’s impact in genetic testing.
#70 Heather Z on Cowden Syndrome
Patient advocate shares about her two rare brain tumors and hereditary cancer syndrome.