TRND Navigates the Fragmented Landscape of Rare Diseases

Abstract

Every six hours for 17 years, Natalie Stack, 21, gulped down cysteamine, a noxious medication to rid her body of excess cystine. Hourly, she applied eyedrops to protect her vision. Natalie was born with cystinosis, a rare genetic lysosomal storage disease in which cystine, an amino acid, accumulates, leading to organ, brain, and eye damage and eventual kidney failure. About 500 people in the US, mostly children, have cystinosis, with perhaps 2000 total sufferers worldwide.