“In some ways, the sun has been my mortal enemy.” Jay is living with erythropoietic protoporphyria (EPP).
Description
Jay joins David Rintell, Head of Patient Advocacy at BridgeBio to talk about his experience of living with erythropoietic protoporphyria (EPP). When Jay was very young, it was difficult to receive a diagnosis for his condition. It took a series of visits to various doctors, including psychiatrists, before a pediatric dermatologist diagnosed him at six years old. The symptoms of EPP are often invisible, which can make diagnosis quite difficult. With vulnerability and clarity, Jay explains that although he may look like everyone else, part of his daily mental energy is utilized managing and planning how to limit his exposure to the sun. Beyond the physical pain, Jay describes the deeper psychological impact of living with an isolating condition which forces him to avoid the sun while others seek it.
Bhavik Shah, Vice-President of Research for Genetic Medicine at Portal, a BridgeBio affiliate working on an investigational treatment for EPP, provides a medical overview of the condition. He explains that EPP is an inherited cutaneous porphyria characterized by extremely painful, non-blistering photosensitivity which is often first noted in childhood, occurs acutely after sunlight exposure and often causes residual skin damage.
United States
