Undiagnosed disease? Maybe it is, maybe it isn’t

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Attention all those with sporadic but crippling pain, recurrent infections, skin lesions and other symptoms of various stripes that baffle, even confound, doctors: The National Institutes of Health may be able to help.

The agency this week launched its Undiagnosed Diseases Program, in which physicians and researchers from a host of specialties will put their collective expertise to work studying patients with mysterious illnesses that have yet to be diagnosed.

Now the caveats: Only about 50 to 100 participants will be chosen annually. The competition is likely to be fierce. Over the years, it seems I’ve heard from at least that many people saying they’ve not been diagnosed properly. Of course, many of them probably couldn’t get a physician to agree with that conclusion.

That brings us to the second caveat ... patients must be referred by a physician or healthcare provider. No self-diagnosing-as-undiagnosable this time around.

And that brings us to the Happy Hospitalist, an internist who doesn’t seem that impressed with the focus on mystery diseases and who offers up ‘real world examples’ of folks who believe they’ve not been diagnosed properly, including this one: ‘Ma’am, your 10 CT scans of your abdomen in the last twelve months, your three upper endoscopies, your two colonoscopies, your CT angiogram of your belly, your PET scan, your exploratory lap, your cholecystectomy, hysterectomy, spleenectomy and your 400 pages of lab tests have failed to give us an alternative diagnosis to your irritable bowel syndrome.’

He adds: ‘To everyone up there at the National Sounds Important Institute, let me know if you need some help.’

-- Tami Dennis