Wednesday, May 28, 2008

Mystery illnesses to be studied at NIH

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This story was corrected on May 28, 2008, from its print edition.

Amanda Young barely remembers her first trip to the National Institutes of Health in Bethesda. Now 26, the lively blonde from Conyers, Ga., has trekked countless times up to Bethesda searching for a treatment — and for the last 12 years, searching for a name — for her mysterious illness.

The federal health agency announced last week the launching of an initiative focused exclusively on undiagnosed diseases that puzzle doctors.

Young is a testament to the agency’s work researching illness, said Dr. John Gallin, director of the Clinical Center at NIH. The institutes have a history of studying undiagnosed illnesses — diagnosing a disease every seven years or so, Gallin said. But this program’s novelty exists in its multidisciplinary approach drawing on the expertise of 25 senior clinical researchers.

Young believes the new Undiagnosed Diseases Program on Rockville Pike will bring hope — and maybe a cure — to children and adults whose symptoms baffle experts.

The program received $280,000 in funding to hire two nurse practitioners and a scheduler, but experts pulled from institutes on the NIH campus will contribute their time and synthesize their expertise to searching for answers for up to 100 patients annually.

‘‘This particular program started largely because [of] inquiries from all over the world,” said Dr. William A. Gahl, program director and clinical director at the National Human Genome Research Institute at NIH. ‘‘Where’s the avenue for pursuit of those? So we’re trying to create that avenue.”

Gahl said patients will be selected based on a diagnostic clue such as an x-ray, the prospect of advancing scientific knowledge through studying the patient’s condition and other criteria that will draw on researchers’ judgment. Gahl estimates the current number of NIH inquiries that are truly undiagnosed diseases to be in the 20 to 50 range annually.

Gallin said one in 200,000 patients in the United States have rare or undiagnosed illnesses — and they account for about half of NIH’s patients.

The first patient is expected in July. Gahl said about 10 candidates have been interviewed so far. The program has received 50 inquiries in one day.

‘‘Not until they decided to open this facility did I realize how many of us are out there who are still looking,” Young said.

The first time she arrived in 1990, Young was 9 years old. It was not the most joyous occasion of her life; she’d just had a leg amputated to stop gangrene. A series of tremendous brushes with death brought Young to the world-class health research facility. First it was bacterial meningitis at 9 months old, followed by paralysis and seizures. Another bout of meningitis settled in her left eye, then a case of double pneumonia, scarlet fever and a cantaloupe-sized abscess in her abdomen.

By age 3, Young’s parents had been told nine times to say goodbye to their daughter. Every time, she pulled through — but doctor after doctor shrugged in puzzlement at what exactly was wrong with Young’s immune system.

‘‘They always told us that her body was further advanced than medicine and technology,” said Lisa Young, her mother. ‘‘We had to believe there was somebody out there who could help us.”

After first arriving at NIH, Young remembers a doctor promising to stick by her and work to find a name for her condition.

‘‘You know when people are searching for the answer to life? My question was always what’s wrong with me,” Young said in a telephone interview. ‘‘I’ve been handled with white gloves all of my life, so it’s nice to have someone take them off and finally take care of you.”

The answer came on May 13, 2003. A genetic mutation called the IRAK4 deficiency, found in only two NIH patients to date, had rendered her immune system blind to illnesses. Bacterial infections could rage through her body without causing symptoms such as fevers. A sniffle once revealed a mass two or three years old that had grown like ivy through her head and down into her nose, her mother said.

The Youngs think NIH’s new program will change lives. Because doctors cannot fix a problem if the problem itself is a mystery, patients and their families become despondent and terrified of the future.

‘‘When you’re going through something like that, the unknown is what is so horrifying,” Lisa Young said.

Through studying Young’s condition, doctors have learned of 25 or 30 other people in the world with similar conditions, Gallin said. That kind of discovery is something clinicians hope will continue through the new program.

‘‘When Dr. [John] Gallin started treating her, we said, ‘Give us an idea of where we are. If we were out in the middle of the ocean, tell us where we are; can we see land?’” Lisa Young said. ‘‘A few months before we got the diagnosis, he said, ‘I really feel like the boat is getting ready to dock’ ... The treatment and the cure is vitally important, and we hope that the day comes that he can give us that answer.”