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Bridget M. Kuehn

JAMA. 2008;300(1):27.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

Scientists are using microarrays and other molecular tools to help patients who have rare disorders that have eluded diagnosis. (Photo credit: Andre Nantel/iStockphoto.com)

In an effort to speed the process of diagnosing . . . [Full Text of this Article]

DIAGNOSIS DIFFICULTIES



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