Far Away with Fabry Disease

Munique Slongo lives in Brazil and was diagnosed with Fabry disease, a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. Fabry disease can affect multiple organ systems including the heart, kidneys, and nervous system. Munique shares her experience navigating a rare disease diagnosis from Brazil, including the challenges of accessing diagnosis, treatment, and community support across geographic and language barriers. She discusses what it means to live with a condition that is often invisible and frequently misunderstood.