Mystery ills come under new scrutiny by NIH

[Guest guest]

Mystery ills come under new scrutiny by NIH

Tampabay.com - St. sburg,FL*

By Greene, Times Staff Writer

Monday, June 2, 2008

http://www.tampabay.com/news/health/research/article582048.ece

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.

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.

sburg. " 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. 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 land 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

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.

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

[Guest guest]

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

" Nobody comes in with a label. You have to have a

Sherlock Holmes mentality. "

This has NOT been my experience as stated in this article...

No, every doctor is NOT like House on television. The House character

has gone to almost every patient's house or place of employment to

LOOK for environmental contaminants which gives people living in other

countries who view this television program the WRONG impression of

American medical care. Have any of your doctors gone to your home or

place of employment to search for the factors contributing to your

illness? No,didn't think so! I've had doctors rip my my medical

history and say they couldn't treat me because I stated the

contaminants subpoenaed from a judge for my case. Once the new doctor

ripped up my history , the doctor came in and introductions were made

all over again and we started over (without the TRUTH of the

environmental hazards).This is far from the television medical hero.

Unlike reality, the House character continually factors in

environmental exposures in each case and always considers the

autoimmune factor which is rising like crazy in this country, many

times due to exposures. I have also heard his character question the

fungal component in most cases as well. When was the last time you had

a doctor evaluation who considered the fungal element? NEVER with

conventional doctors for me!

Nobody comes with a label? I would disagree. Many of us with chemical

intolerance or mold related illness all get a label..probably the

first visit, probably the psychotic and delusional label. AND that

label continues into the workers comp. and SSDI courts and thus we are

denied compensation for the injuries we have sustained because the

current medical profession overall seeks to label us due to potential

liability issues and insurance agendas.

I have met very FEW with the Sherlock Holmes mentality but instead

many with the insurance company/ pharmaceutical mentality. Many

doctors search within the parameters of what your insurance policy

allows or find a way to work in the latest pharmaceutical into your

treatment protocol> Not many want to know WHY you are ill, only to

medicate the symptoms.

So this article does NOT ring true in my reality since becoming ill.