Powerhouse Trio Helps Those Who are Undiagnosed

You may be one of tens of thousands of Americans who just can't get a diagnosis.

If so, there may be hope for you -- provided by three sections of the National Institutes of Health, part of the US government, including The National Human Genome Research Institute, The NIH Office of Rare Diseases, and The NIH Clinical Center.

A recent announcement provides the basics: a new program is set up to accept referrals from primary care physicians (doctors, nurse practitioners, physician assistant) for people who simply cannot get an accurate diagnosis. The NIH is hoping to identify new, rare diseases (which means any disease diagnosed for fewer than 200,000 Americans), and to use genetics to help determine what they are or how they may be treated.

Only 50 to 100 patients will be reviewed each year. Review will take place across all clinical areas including rheumatology, immunology, oncology, mental health, nephrology, hematology, ophthalmology, neurology, laboratory medicine, pain and palliative care, bone disorders, endocrinology, oncology, immunology, dermatology, primary immunodeficiency, dentistry, genetics, pathology, pulmonology, cardiology, primary immunodeficiency, internal medicine, pediatrics and hepatology. (No -- I didn't type all those. I copied and pasted them!)

This is very hopeful news for people who have been undiagnosed. It's one of the most frustrating experiences in life to know you are sick, but your problem is unlabeled, and therefore not effectively treatable. VERY frustrating.

And it won't help every undiagnosed patient. No doubt thousands of patients will never be reviewed. Even those whose cases are reviewed won't necessarily result in a diagnosis.

Take a look at the FAQs for patients and their primary care physicians.

And do me a favor -- if you are able to take advantage of this program, will you let me know? Just shoot me an email: patients.guide (at) about.com
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