Pinpoints of light glimmer on the black computer monitor, as numerous as stars in a clear nighttime sky.
“Have you ever seen a CT scan before?” Dr. Bernadette Gochuico asks Nancy and Jim Groski.
Sure, they say. More than two years ago, then 46-year-old Nancy Groski developed a baffling constellation of symptoms, and she has undergone more scans and medical tests since than most people endure in a lifetime.
Those specks of light? A sign of inflammation in Groski’s lungs, though she’s not short of breath and doesn’t appear sick. An attractive, vivacious blonde who’s quick to laugh, Groski wears a casual print shirt, elastic-waist pants and athletic shoes, rather than the typical hospital gown and slippers. But make no mistake: Groski is a patient here.
She stumped a brigade of doctors in her hometown of Buffalo, N.Y., who couldn’t explain the numbness that has enveloped her entire body, making even the simplest task difficult, nor the lung inflammation or her other symptoms.
That’s why the Groskis have traveled to the National Institutes of Health Clinical Center in Bethesda to take part in its Undiagnosed Diseases Program (UDP). The program has become a mecca for people with mysterious ailments—a clinic of last resort staffed by dozens of medical sleuths who make TV’s fictional Dr. House and company look like a bunch of amateurs.
When the Clinical Center opened in 1953, the towering hospital was likened by one former NIH director to the hull of a giant ship. With 514 beds, it’s the largest hospital in the United States devoted entirely to research. People desperate for treatment come here from around the world, hoping to improve if not extend their lives. Most at least know what’s wrong with them. The UDP patients don’t.
Established in May 2008, the Undiagnosed Diseases Program accepted 326 cases in its first two years, about one out of every four patients who applied. By late 2011, it had accepted a total of 500.
Nancy Groski will never forget the date—June 9, 2011—when she received her letter from NIH. “When I got to the word ‘accepted,’ I started crying,” she says. “We sat there for probably an hour and just cried.” Now, five months later, she has come for the week of testing and consultations typically given to UDP patients.
The program covers patients’ travel expenses, as well as their stay at the Clinical Center. The NIH findings will be sent to their hometown doctors, who will continue to manage their care.
Compared with a standard, private hospital room, patients’ quarters at NIH are huge—averaging 255 square feet. They have to be large enough to accommodate the crowds UDP Director Dr. William Gahl draws as he makes his rounds. Ray MacDougall, associate director of communications at NIH’s National Human Genome Research Institute, says he once spied two guys from finance in the crowd. The cases are that fascinating.
UDP patients have come from as far as Hawaii and Italy and as near as Gaithersburg and Northern Virginia. The response has been so great that the program stopped accepting new applications for five months last year so the staff could clear up the backlog. During that period, prospective patients contacted their elected officials in Washington, D.C., and demanded to know why they couldn’t apply.
Gahl, 62, who lives in North Bethesda, came up with the idea of a clinic to handle the most challenging medical mysteries. “It’s the type of thing I’ve been thinking about probably for 15, 20 years, but it’s difficult to do in certain stages of one’s life,” says Gahl, a 30-year NIH employee and Milwaukee native with a Ph.D. in oncology research. In recognition of his contributions to the UDP, Gahl won a 2011 Samuel J. Heyman Service to America Medal last October, considered the Oscar for civil servants.
“I’ve always studied rare diseases—metabolic diseases, biochemical disorders,” Gahl says. A medical geneticist, he has published more than 350 papers on such conditions. One of his major areas of interest is Hermansky-Pudlak syndrome, named for the scientists who first described the disorder in 1959. Gahl’s lab has identified three of the nine genes known to cause the syndrome, which is characterized by albinism, prolonged bleeding and lung and bowel disease. Fewer than 1,000 people in the world have been diagnosed with the disorder.
