"We're here for a good time, not a long time" – Ashley is Living with EPP

Excruciating pain after even brief sun exposure, years without answers, and a life-threatening liver crisis shaped Ashley's journey with erythropoietic protoporphyria (EPP), a rare genetic condition that causes severe photosensitivity. Although Ashley experienced symptoms beginning in early childhood, she wasn't diagnosed until after her 40th birthday, when she was hospitalized with advanced liver disease ultimately requiring a transplant. In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Vice President of Patient Advocacy at BridgeBio, speak with Ashley about her decades-long diagnostic journey, the emotional experience of waiting for a donor organ, and how finding a physician living with porphyria finally led to answers. Ashley reflects on the challenges of living in the shadows to avoid sunlight, navigating life after transplant, and why sharing her story has become one of her greatest purposes.  Dr. Pete Schmidt, Chief Medical Officer of GondolaBio provides a medical overview of EPP and X-linked protoporphyria (XLP). Both conditions are rare genetic disorders caused by the buildup of protoporphyrin IX, a molecule that becomes highly reactive when exposed to visible light. This reaction causes severe pain and inflammation in the skin after sun exposure and, in some people, can lead to progressive liver damage as protoporphyrin accumulates in the liver and bile ducts. Dr. Schmidt explains the underlying biology of EPP, why symptoms can be difficult to diagnose, and the challenges of managing both the painful photosensitivity and the risk of liver disease.