John Matta, (Munhall, PA) who just turned 20, was diagnosed with a bone disorder as well as a nerve problem when he was 11 years old. He has curvature of the spine and muscle weakness and is still being treated at Children's as part of the program. He is grateful that his pain can be somehow managed. Matta wants to be a music teacher and is a sophomore at the University of Pittsburgh at Greensburg, where he said he tries to live a normal life. By Luis Fabregas
TRIBUNE-REVIEW
Sunday, January 18, 2009
The parents show up at doctors' offices scared and frustrated.
Their son or daughter is sick, and no one can tell them why.
"Sometimes it ends up being kind of a mystery illness; other times not," said Dr. Sara McIntire, a pediatrician at Children's Hospital of Pittsburgh.
McIntire is among more than a dozen pediatricians who run a service to provide answers to medical problems that stump the most astute experts. Often with uncanny precision, doctors at the Paul C. Gaffney Diagnostic Referral Service take the mystery out of an unexplained back pain, a lingering cough or an itchy rash.
They are detectives of sorts for people who exhaust other options in what can be an exhausting medical maze.
"Sometimes we're asked to be a detective about things that other people can't quite understand," McIntire said. "The real crux of the problem is why the person is asking for help in the first place."
University of Pittsburgh student John Matta's case exemplifies the program's value, he said.
When Matta came to the Diagnostic Referral Service at age 11, he complained of a constant back pain. He had curvature of the spine and bones that were abnormal in texture and shape, but doctors didn't know why.
After tests that included bone biopsies, doctors diagnosed a rare bone condition. McIntire also was surprised her evaluation uncovered striking neurologic findings: weakness in Matta's hands and feet, wasted muscles and limited reflexes. It was clear that, separate from his bone condition, he had major nerve problems.
"I was more confused rather than frustrated," Matta, 20, said about the uncertainty of his health.
His illnesses aren't cured, but they are treated and carefully monitored, something that allows him to attend college with the goal of teaching music.
"It's a comforting feeling knowing that they're trying to do something," he said.
Medicine has been slow to embrace services to help people deal with mystery ailments, experts said. The program at Children's is one of only a few nationwide, which include pediatric hospitals in Philadelphia and Cincinnati and the Mayo Clinic in Minnesota.
"It takes a lot of expertise to set up a clinic like this, and it takes a large team of interdisciplinary colleagues," said Dr. Chad K. Brands, director of the Mayo Clinic's Pediatric Diagnostic and Referral Clinic.
Last year the federal government launched the Undiagnosed Diseases Program at the National Institutes of Health. That program has been swamped with patients since it started in July 2008, logging more than 500 cases involving children and adults.
"Many of the patients we get have been at the best centers in the country," said Dr. John I. Gallin, director of the NIH Clinical Center, the federal hospital in Bethesda, Md., devoted to clinical research. "You have to have patience, and you have to have a facility that can fund a long-term study that sometimes doesn't bring the answers."
Children tend to be accepted into the NIH program faster than adults, said Dr. William A. Gahl, the program's director.
"Adults have a lot of aches and pains, but there is no clue to go by," Gahl said. "The kids are in wheelchairs, they have neurological deficits; it's clear that they really have something."
The program at Children's Hospital of Pittsburgh dates to the late 1960s, when pediatric subspecialties were emerging and pediatricians did not consult specialized counterparts.
Improved diagnostic tools make it easier to pin down often rare genetic diseases. Doctors field calls daily from physicians across the country who are seeking information about a specific illness, or those whose patients want a second opinion.
"They are doctors who have more experience dealing with more complicated problems that we might see once in a career or once every 10 years," said Dr. Jim Tucker, a pediatrician in the O'Hara office of Children's Community Pediatrics. "It is a very valuable service. They've got these less-common diseases very well organized in their minds, and they can order a battery of tests and come up with an answer in a much more efficient way."
The service is not failure-proof, and there are times when even the diagnostic experts are stumped.
"Most of the time you're able to generate a list of likely possibilities," McIntire said. "But there are times when you just feel like I really don't know what's going on with this patient."
When that happens, the doctors at the diagnostic referral service turn to each other, at biweekly meetings during which they can describe their most confounding cases. Often, that's all it takes.
"Sometimes it's easier to recognize something when someone is describing it to you," McIntire said. "You can be staring right at something, and you don't know what it is."
