Five years to diagnose a rare disease; longer for patients of color

What does it mean for a patient to have a rare disease? It means an average of five years before getting a correct diagnosis. It means consultations with over seven clinicians to reach an accurate diagnosis. It means a great deal of money, struggle, and physical and mental suffering. And at the end of it all, it often means finding out there’s no treatment available for your condition.

A rare disease is a condition that impacts fewer than 200,000 people annually. While the term “rare” gives the impression that very few patients are impacted, that’s not the case. In the U.S. there are approximately 7,000 rare diseases, including Huntington’s disease, spina bifida, fragile X syndrome, Guillain-Barré syndrome, Crohn’s disease, cystic fibrosis, and Duchenne muscular dystrophy.

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