September 20th, 2010
11:10 AM ET

Elite medical unit is last hope for many with mystery illnesses

MaryAnne Fox
AC360° Producer

Programming note: Imagine that you have a disease, but no one, not even your doctor, can tell you what it is. Where do you turn? Meet the doctors-turned-detectives who try to solve the rarest medical mysteries. Dr. Sanjay Gupta tells you why it's about more than saving lives on an AC360° special investigation at 10 ET tonight.

(CNN) - Tucked away on the sprawling campus of the National Institutes of Health in Bethesda, Maryland, an elite team of doctors, specialists and researchers are in search of clues to solve mysteries no other doctor could solve.

They’re detectives for a one-of-a-kind initiative at National Institutes of Health. It’s called the Undiagnosed Diseases Program or UDP. Together, the UDP's team focuses its vast expertise on trying to save patients' lives and creating new science. Dr. William Gahl is the clinical director of NIH’s National Human Genome Research Institute and is also the Undiagnosed Diseases Program’s lead investigator.

“The mission is really two-fold,” Gahl says. “One is to try to get to a diagnosis for people who have struggled for so long to achieve a diagnosis – of course there all kinds of benefits to that. The second is to discover new diseases or new aspects of known diseases so we can help the entire community of individuals with related disorders.”

Related video: Gupta goes inside medical mystery ward

For many people with mysterious conditions that have eluded doctors around the country, the UDP is their last hope for a diagnosis.

“We try and be realistic about it and get our patients to be realistic about the issues too,” Gahl says. “So the first day of a typical visit, I’ll go in and tell the patients, ‘You’ve been to the best places in the country, now you’re coming here. We only have a 10 to 15 percent success rate. So I don’t want you to get your hopes up really too, too high.’ But on the other hand, we don’t want to take all hope away.”

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Filed under: 360° Radar
soundoff (3 Responses)
  1. Alexia Norton Jones


    This is vital news. The NIH needs support and exposure. I was diagnosed too late with a rare "orphan" disease; and this lost the quality of my life. I live with a disease called a Channelopathy–I'm intermitently paralyzed often. It was easier for doctors to think it was Factatious or Malingering. And so I "lost" a chance for timely treatment. I live on a drug called Inspra. Hundreds of mEqs of potassium chloride daily. And a super strict diet. It's lifestyle and proper diagnosis. Thank goodness I reached out to Germany the The Einstein Institute and Dr. Frank Lehmann-horn– the world's authority in PP. Had I not I would have died due to physician error. Surely. Please go to PPA.org and learn about this very rare disease. I had a wonderful life full with potential. I miss it : )

    Thank you Anderson.

    Alexia Norton Jones

    September 20, 2010 at 1:53 pm |
  2. Jon

    The real life Dr. House and company

    September 20, 2010 at 1:35 pm |
  3. teresa, oh

    what a wonderful place to have around. with the word getting out about UDP, I'm sure their 3000 inquiries will skyrocket to about 1,000,000.

    thanks to all who work their and pool their smarts for the health of mystery illnesses.

    wouldnt it be great if we had dr's. like this at our disposal to diagnose us the FIRST time we wander in their offices instead of using our life's savings to figure out we have an autoimmune disease that is basically uncurable?

    September 20, 2010 at 12:10 pm |