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Medical News & Perspectives
July 2, 2008

US Launches Undiagnosed Diseases Program

JAMA. 2008;300(1):27. doi:10.1001/jama.300.1.27

It took more than 20 years for physicians to finally identify the disorder that caused Amanda Young to experience frequent life-threatening infections. By that time, Young, now 26, had spinal meningitis 3 times and had undergone amputation of her leg with hip disarticulation after a minor scratch lead to gas gangrene.

Unable to find an explanation, some physicians and hospitals simply turned Amanda and her parents away. But a referral to John I. Gallin, MD, at the National Institutes of Health's (NIH’s) Clinical Center in Bethesda, Md, led to Young's condition being identified as a rare genetic disorder that leaves her unable to produce IRAK-4, a key protein of the innate immune system.