Presenter
Ellie White
Ellie White Foundation for Rare Genetic Disorders, Centennial, Colorado
Abstract
Wolfram syndrome is a rare genetic disorder which causes type one diabetes, blindness, hearing loss, loss of coordination, and multiple other complications, culminating with brainstem atrophy, leading to premature death due to respiratory dysfunction. This terminal disorder currently has a life expectancy of 35. Managing the complexity of the symptoms is particularly challenging with the addition of vision loss. I have Wolfram syndrome and I have started a foundation to help find a cure as well as assist patients with the management of this insidious disorder.