By Jo Oliver on March 17th, 2010

Undiagnosed Diseases Program

National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center has organized an Undiagnosed Diseases Program in Bethesda, Maryland for patients that have a disease that has eluded their primary care physician(s) or have a rare disease. The program considers a rare disease to be one that has a prevalence of less than 200,000 U.S. affected individuals. This is a free program, and for those that qualify, travel, meals, and lodging may be paid for.

The program uses a combination of medical and scientific resources to achieve two goals:

Provide patients with answers to mysterious conditions that have eluded diagnosis.
To advance medical knowledge about rare and common diseases.

Medical specialists from areas such as: genetics, cardiology, dentistry, oncology, endocrinology, dermatology, rheumatology, immunology, mental health, nephrology, hematology, ophthalmology, neurology, laboratory medicine, pain and palliative care, bone disorders, immunology, primary immunodeficiency, pathology, pulmonology, primary immunodeficiency, internal medicine, pediatrics and hepatology participate in the program.

To qualify for admission consideration you must be at least six months old, have a condition that remains undiagnosed in spite of ongoing care, and be able to travel.

Anyone interested in participating must first discuss the program with their primary physician or specialist, as all patients must be referred by a physician. The primary care physician will be asked to provide some of your confidential information directly to the program such as:

A summary letter that describes the patients condition, when it was first discovered, and current health status.
A list of tried and current treatments and the effects of treatments.
Reports and results of diagnostic testing such as- MRI, CT Scan, X-Rays, biopsies, etc..

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The medical team will review the information that your primary doctor sends in. Those cases that meet the programs criteria will be presented to the Undiagnosed Diseases Programs board of specialists for further consideration. Not all patients that are referred will be accepted into the program. Only 50 to 100 patient cases will be invited to NIH for evaluation and consultation each year. Those accepted will receive an acceptance letter. The review usually takes 6-8 weeks, not counting any inpatient or outpatient visits to the facility.

This is not a long term care program; follow up care will return to the primary physician, unless the patient is eligible for ongoing research studies.

For more information about the program or to get application process started, you may call 1-866- 444-8806