Our PKU series kicks off with Sarah Chamberlin and Ryan Miller, sharing the journey from newborn screening result to diagnosis, treatment, and family support.
All tagged genetic condition
#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs
The second installment of our Achondroplasia Series, sponsored by BioMarin, focusing on lifelong medical monitoring and care coordination with guest Dr. Ricki Carroll.
#330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome
What parents Caleb and Abbi Walh wish every family knew about navigating a rare diagnosis.
#301 Dwarfism with Colleen Gioffreda
It Happened To Me episode featuring guest Colleen Gioffreda shares her experience living with dwarfism including her roles at Johns Hopkins, Little People of America, and as a mother.
#281 Tay-Sachs with Dr. Matthew Goldstein
Episode drop of “It Happened To Me” sharing the story of a heartbreaking Tay Sachs diagnosis inspiring a career in carrier screening.
#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci
“The Spring of Sight'' author discusses how computer vision technology could be utilized as a tool to diagnose genetic diseases based on pictures of physical features.
#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne
Oguzhan Atay and Jen Hoskovec of BillionToOne discuss UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions.
#213 Congenital Adrenal Hyperplasia and Gender with Sage Sargent
Sage Sargent, patient advocate for congenital adrenal hyperplasia, shares her experience as an intersex person with the condition.
#176 Glee's Lauren Potter on Down Syndrome Awareness
Lauren Potter (aka Becky Jackson from Fox’s hit TV show Glee) discusses Down Syndrome awareness and advocacy.
#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.