Finding answers for patients with rarest of rare diseases

WASHINGTON (AP) — Patients whose mysterious symptoms have stumped other experts are getting a new chance at diagnosis through a network of hospitals that tackles the rarest of rare diseases.

It’s called the Undiagnosed Diseases Network, set up by the National Institutes of Health. Wednesday, researchers with the network published a snapshot of their early findings: Doctors diagnosed about a third of the first patients to complete evaluations. In less than two years, they’ve discovered 31 new syndromes.

A diagnosis doesn’t necessarily change someone’s day-to-day medical care, but researchers say naming their ailment brings some relief. As for patients who still didn’t get answers, the program will revisit their cases as science advances in hopes of improving the diagnosis rate.

The report was published by the New England Journal of Medicine.

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