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Mystery ills come under new scrutiny by NIH

TAMPA — Jack Wheat's immune system doesn't work, but nobody knows why.

The slightest cold can strike the Tampa resident and leave him ill for months. He goes out with disinfectant wipes, stays away from children, never travels in winter. Frequent injections help his immune system, but leave him exhausted and weak.

Tampa doctors have given Wheat, 53, all the answers they can. Now he's hoping that federal scientists might consider him as they start a program devoted to helping the patients with the most unusual symptoms and most unsolvable medical mysteries in the nation.

Called the Undiagnosed Diseases Program, the effort from the National Institutes of Health will call on experts to label maladies that have eluded doctors across the country.

"In many respects, these are abandoned patients," said Dr. William Gahl, clinical director of the National Human Genome Research Project and manager of the new program. "The medical profession has hit a brick wall and can't go any further."

In one way, what NIH scientists will do is extreme. They will hunt for clues that other doctors couldn't find, sometimes with medical tests that aren't commercially available.

They are the real-life versions of Dr. House, the acerbic TV character played by Hugh Laurie who solves medical puzzles with a disturbing mix of dazzling intelligence and studied callousness.

"They ask me, 'Are you like House?' " Gahl joked. "And I say, 'I'm not a sociopath.' "

In another way, what the NIH doctors will do is just a more exotic version of what every doctor does, every day.

Every patient is a mystery. Every doctor, a House.

"You go into medicine because everything is unknown when they come in the door," said Dr. Jack Hutto, vice president of quality improvement and outcomes for All Children's Hospital in St. Petersburg. "Nobody comes in with a label. You have to have a Sherlock Holmes mentality."

Most of the time, the ailments are common. Medical students are taught that "when you hear hoof beats, think horses, not zebras," or that a fever is more likely flu than Ebola. But as tricky cases travel from community doctors to local hospitals to regional centers, the diagnoses become more difficult.

"Places like this, we see more zebras," said Dr. Dan Sullivan, executive vice president for clinical investigations at H. Lee Moffitt Cancer Center & Research Institute in Tampa.

At Moffitt, doctors are using genetic tests to try to diagnose cancers whose source can't be found and to determine whether they would respond to a particular drug.

But even Sherlock Holmes isn't invincible.

Dr. John Sinnott tackles unusual cases as director of infectious diseases and international medicine at the University of South Florida's medical school. He has patients he still wonders about.

"I'm haunted by a man who came in with a bone infection, then was treated for pneumonia," Sinnott said. "We could never figure out anything, and he died. … It was 15 years ago, and I'll never forget it."

While Sinnott has seen only one such patient, he said, NIH scientists might see more.

"What they're trying to do with these underlying diseases is to find a common thread," he said. "While I've seen only one patient with a bone infection and pneumonia, maybe somebody in Maryland has seen one and somebody in Washington. Maybe there's a disease that they could put a name on."

Just having a name for what's wrong is an incredible relief, said Amanda Young, an NIH patient. Growing up in Conyers, Ga., Young kept getting hit with serious infections, including repeated bouts of spinal meningitis and seizures. When she was 8, a scratch on her leg turned into such a bad infection that her leg and hip had to be amputated.

"Everybody was just turning me away, saying we have no idea what's wrong with her," Young said.

It wasn't until 2003 that the NIH could tell Young, now 26, what was wrong. She has a rare genetic mutation that keeps her body from making a protein needed to fight infection.

The program hopes to help such patients — but also do more, Gahl said. Sometimes, learning how an undiagnosed condition affects the body can give scientists clues to how genes work or what happens in more common diseases. For instance, doctors hope that studying Young's genetic problem might tell them more about lupus, arthritis and other conditions.

On its Web site, the Undiagnosed Diseases Program says, "Any long-standing medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program's medical team."

Wheat, the Tampa patient, hopes that doctors would have broader insights if they learned more about why his body doesn't produce antibodies to fight infections. Five years ago, after years of illness and trips to specialists, Sinnott and another doctor said Wheat had a genetic flaw that had disabled his immune system.

There is still no explanation of why or how. And a certain kind of loneliness comes with the mystery.

"It's the kind of diagnosis that doctors don't make very often in a lifetime," Wheat said. "Because it's a mysterious disease, there's no peer group. There's no prognosis."

So Wheat keeps coping the best he can. He "does a lot of Purell" sanitizer and times his short outings so he won't get overtired. He goes to movies during the day, when nobody's in the theater. He hears about friends' babies instead of visiting them.

And he hopes someone, someday, can give him an answer.

Lisa Greene can be reached at greene@sptimes.com or (813) 226-3322.

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Learn more

For information about the Undiagnosed Diseases Program, go to: rarediseases.info.nih.gov/Undiagnosed. Physicians and patients with specific inquiries may call the NIH Clinical Center clinical information research line toll-free, at 1-866-444-8806.

Mystery ills come under new scrutiny by NIH 06/01/08 [Last modified: Sunday, June 1, 2008 11:57pm]
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