Medical Detectives: The Last Hope For Families Coping With Rare Diseases

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December 17th, 2018

Seven-year-old Carson Miller (left), and his brother, 5-year-old Chase Miller (right), both have a degenerative brain disease called MEPAN syndrome. There are only 13 people in the world who have it.

Courtesy of Andrew Ross-Perry

All over the country, specialized teams of doctors are giving hope to families who are desperately searching for a diagnosis.

The medical sleuths, scattered across 12 clinics nationwide, form the Undiagnosed Disease Network. Since the program began in 2014, they’ve identified 31 previously unknown syndromes and they’ve cracked more than a third of their cases, according to a recent paper in the New England Journal of Medicine.

“It was like Sherlock Holmes,” says Euan Ashley, a professor of medicine at Stanford University.” Patients would come with mystery diseases and we would try to solve them.”

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