When “Undiagnosed” Is Your Diagnosis

Before most rare disease patients have a name to give their condition, they go on a diagnostic odyssey than can take years and usually involves multiple specialists. For some patients, the answer never comes. In the absence of a diagnosis, patients face significant challenges getting the care they need, reimbursed by insurers, or necessary accommodations from schools or employers. Ahead of Undiagnosed Disease Day, which takes place April 29, we spoke to Gina Szajnuk, executive director of the Rare and Undiagnosed Network and Matt Might, Director of the Hugh Kaul Personalized Medicine Institute at the University of Alabama at Birmingham School of Medicine. They discussed what it’s like to be undiagnosed, efforts to raise awareness about the plight of undiagnosed patients, and why “undiagnosed” is a diagnosis.