House Detectives | Page 2 of 4

House Detectives

At NIH, a highly specialized team takes on the cases other doctors can't solve. Think Sherlock Holmes meets TV's Dr. Gregory House-minus the obnoxious 'tude

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Dr. William Gahl, director of the Undiagnosed Diseases Program. Every Thursday morning, Gahl convenes a meeting in a windowless conference room to review the adult applications for the UDP (though a board-certified pediatrician, he hired a doctor from Children’s National Medical Center in Washington, D.C., to oversee the pediatric applications). About 60 percent of patients accepted by the program are adults.

A couple of doctors attend, but most in the room are nurse-practitioners, schedulers “and people who can file things and obtain things for us,” Gahl says. They sit around a table covered with medical charts and plow through 30 in an hour and a half. They might decide they need X-rays from one applicant or tissue slides from another—anything to provide a clue as to what’s wrong and help the doctors decide whether the patient should be admitted.

In one case the program didn’t even have to admit a patient for diagnosis. Gahl thought he recognized the applicant’s ailment—familial pulmonary fibrosis—from the medical chart alone. He passed the chart to Gochuico, his lung specialist, and after reviewing it, “there was no other possibility in my mind,” she says. Mystery solved, Gochuico referred the case to NIH researchers who are studying the disorder.

Familial pulmonary fibrosis, in which the lungs become inflamed and/or scarred, is thought to arise from a genetic predisposition and an environmental trigger such as smoking. There is no cure, and it ultimately is fatal.

Of the first 160 patients seen by the UDP, about half suffered neurological disorders, according to a report in the September 2011 issue of Genetics in Medicine. Others had gastrointestinal ailments, rheumatic illnesses, psychiatric conditions, pain, skin problems or cardiovascular disease.

Though their symptoms are varied, most have one thing in common. “We select patients because we think they might have a genetic component, because that’s what we’re best at,” says Gahl, who also serves as clinical director of the National Human Genome Research Institute and heads its section on human biochemical genetics. He and his colleagues might order fairly routine tests that have been done elsewhere, such as CT scans, but they also have the most advanced tools available for genomic analysis.

During her stay, Groski has had a skin biopsy, spinal tap, lung function test and PET, CT and MRI scans. “They literally X-rayed every part of my body,” she says. They’ve also taken about 40 vials of blood, some to use for genetic analysis. When findings become available, they’re circulated among the consulting doctors, including Gahl and Gochuico, as well as radiologists, neurologists and hematologists. They email, call, pop into each other’s offices or meet up on the patient floors.

Not surprisingly, publicity about the program has attracted a few seeking attention rather than answers. “These are patients who go to their doctors pretty frequently, like maybe every couple of weeks or so,” Gahl says. He has had applicants submit personal health diaries that were 25 to 30 pages long. Single-spaced. Even their referring physicians seem skeptical. “Mr. Smith thinks he has such and such,” their doctor might write in a cover letter.

“The reason we turn down most of these individuals is there’s nothing objective to go after,” Gahl says. “I’m dizzy” or “I’m tired” doesn’t cut it.

Even with the careful winnowing of applications, patients occasionally turn out to have relatively common conditions such as chronic fatigue syndrome or fibromyalgia. “There have been a couple of patients who, when we told them what we thought it was, were disappointed,” Gahl says. “They really wanted to have something more exotic.” Still, those are the “outliers. Almost all of our patients have a bona fide disease that is a mystery,” he says.

Most of those accepted into the UDP have spent years seeking answers, often at top academic medical centers such as Johns Hopkins or Massachusetts General Hospital. Gochuico applauds the referring physicians. “I give them a lot of credit for saying, ‘You know, something’s going on here. I’ve tried my best, and I’m now seeking assistance with a patient,’ ” she says.

Gochuico, who lives in Potomac with her husband and three elementary school-age children, is the daughter of a psychiatrist mother and internist father and always wanted to be a doctor. The 44-year-old decided early on to specialize in pulmonology because the lungs are “absolutely critical” for life. She also trained in critical care medicine, because “you have to be able to treat the whole patient.”

She arrived at NIH in 1998. Since 2007, she has been an attending pul­monologist at the National Human Genome Research Institute. She’s asked to consult on UDP cases—all of the doctors involved with the program wear other hats at NIH—about once a month. “Here, we have the luxury of being able to really concentrate as a team on that one patient,” she says of the UDP.

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