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The diagnostic odyssey

Sick-girl-christian-krohg-1881Imagine developing some odd symptoms, like a rash and an ache. You go to the doctor and she shrugs it off and says they are probably unrelated and to come back if the rash doesn’t go away. Two months later, the rash is gone but the ache is worse. You go back and she sends you to physical therapy and suggests a specialist. A month later, neither has identified a problem. The physical therapist suspects you aren’t doing the exercises and the specialist suggests you see a psychiatrist about depression. The rash is back, too. And you are tired all the time.

For some people this frustrating and scary lack of diagnosis and care can go on for years. Sometimes, doctors have overlooked a common disease that just manifests oddly. But often, the patient has a rare disease their doctors have never heard of, let alone seen.

Yesterday, NIH launched a new Undiagnosed Diseases Network, consisting of seven major medical centers where select patients with no diagnosis can go — at no cost — for the best diagnostic facilities available. Together, the seven centers, one of which is at Stanford Medicine, magnify that network of expertise to consider patients' cases.

Euan Ashley, MRCP, DPhil, associate professor of cardiovascular medicine and of genetics at Stanford Medicine, is co-chair of the UDN steering committee. Recently, he spoke to me for a Q&A about the new network, which is open for business. And more information on the Stanford Center for Undiagnosed Diseases can be found here.

Previously: NIH network designed to diagnose, develop possible treatments for rare, unidentified diseases and Using crowdsourcing to diagnose medical mysteries
Photo by Christian Krohg, 1881, from Wikimedia Commons

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