”We say it all the time: We’re lucky.” Philip is living with hereditary transthyretin amyloidosis (ATTR)

Philip’s journey with ATTR began with unexplained weight loss and gastrointestinal issues that puzzled doctors for years. Despite seeing multiple specialists, his condition remained undiagnosed until a physician at Johns Hopkins finally connected the dots, confirming ATTR. By then, Philip had lost 60 pounds and was on the brink of survival.

In today’s episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Philip and his wife, Sally, who has helped to navigate the frustrating medical system, advocate for answers, and ultimately helped Philip receive life-saving IV nutrition. After years of uncertainty, Philip finally found an expert team with the knowledge, treatment, and community they needed. Philip and Sally share their story of perseverance, partnership, and hope for a brighter future.

Dr. Adam Castaño, head of the Amyloid Prevention Program at BridgeBio, provides a medical overview of TTR amyloidosis (ATTR), a rare, progressive disease caused by misfolded transthyretin (TTR) proteins that form amyloid deposits in different parts of the body such as the heart, the peripheral nervous system, and the gastrointestinal tract. These deposits lead to debilitating symptoms including heart failure, neuropathy, and digestive issues, often mimicking common age-related conditions and possibly contributing to underdiagnosis. ATTR can be hereditary, but it also develops in the general population (this is called wild type). Advancements in non-invasive imaging and specialized protein staining have improved early detection, offering hope for better disease management.