Teamwork of Scientists and Community Brings Treatment to Fruition
BY LESLEY EARL (NCI) AND EMILY PETRUS (NINDS)
Trip after trip to the doctor. Misdiagnosis followed by confusion. More visits to specialists. Few, if any, answers. For those with a rare disease, this cycle of uncertainty rarely ends even with a diagnosis. Of the more than 6,000 known rare diseases, only 300 have any treatment at all. Nevertheless, with a diagnosis of a rare disorder comes a community of patients and their families, as well as scientists, clinicians, and others, all traveling the same path together.
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