Health agency puts spotlight on mystery diseases

By | May 21, 2008

NIH launches programme to help patients with undiagnosed conditions. …

The problem of undiagnosed patients emerged when the ORD surveyed several years’ worth of questions fielded by the information centre it runs in partnership with the genome institute. “Around 6.6% of the questions we were getting related to undiagnosed diseases,” says ORD director, Stephen Groft. “That becomes a major problem when you extrapolate to the entire population.”

Patient advocates agree. “The single most consistent issue that people who call us are dealing with is the difficulty of getting a diagnosis,” says Mary Dunkle, a spokeswoman for the National Organization for Rare Disorders in Danbury, Connecticut. “People are very hopeful and actually excited about this. It’s something that patients feel hasn’t received a lot of attention.”

There will be plenty of candidates for the new programme: the NIH has already received unsolicited copies of some patients’ details, as word has spread among patient groups. Patients will nevertheless need to be referred by a doctor, Gahl says. “We have developed a stringent referral process to ensure this programme deals with those cases that have truly confounded medical experts,” he says. “ We will be very selective when it comes to patient eligibility.” – nature

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