Medical Stories
Rebels of Perseverance
S5 • E4 Nov 16, 2023
In this episode of Medical Stories, we visit two extraordinary families who share their stories about their challenges with rare diseases, and how they persevered to find answers for their sick children. Chris, a young cattle rancher in Utah has a rare genetic disease called Pyruvate Kinase Deficiency or PKD, an enzyme deficiency that impacts red blood cells. We will also meet Kira, a California teenager who has been diagnosed with Alagille syndrome, an inherited condition that results in liver damage. Their journeys are anything but ordinary. Featuring renowned experts: Dr. Rachael Grace, Associate Professor of Pediatrics at Harvard Medical School, and Dr. Noelle Hanako Ebel, Clinical Associate Professor, Pediatrics at Stanford Medicine Children's Health.
