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Solving a Medical Mystery: When You Know Something's Terribly Wrong ... But You Don't Know What

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COLUMBIA, S.C. - Amid all the twists in Linda Kaye Schnackenberg's story, perhaps none is more bizarre than the way she found the name of the rare ailment that caused her years of excruciating pain.

It wasn't through her family doctor or a specialist.

It wasn't through anyone in the medical community, although Schnackenberg is the well-connected wife of a local physician.

It was through her hairdresser.

"This crazy neck of mine!" she said during a 1994 hair appointment, apologizing when jerky movements made it hard to get a shampoo. It turned out her hairdresser had another client with a similar problem, and advised Schnackenberg to call her.

That's when Schnackenberg first heard the words "spasmodic torticollis" - "ST" for short - and realized it must be the source of 10 years of agonizing muscle spasms.

A neurologist soon confirmed the diagnosis. Finally she could start treatments for the disorder that sometimes made her head flop so far down toward her left shoulder, she could raise it only by using both hands.

Like others who have dealt with medical mysteries, Schnackenberg said the worst part was not knowing what was wrong - and wondering whether she would live to find the answer.

"It was such a relief to have a name for it," said the 60-year-old West Columbia resident.

"Even though I was in terrible pain, it was almost a gleeful feeling to know what it was."

If you've never faced a medical mystery, consider yourself fortunate. It's much easier to cope with a broken arm, an inflamed appendix, a gash in the skin: things that are simple, definite, fixable.

But also consider yourself warned. Today's nagging little health problem - a dizzy spell, a child's cough - could turn into tomorrow's agonizing mystery. Like Schnackenberg and others, you suddenly could feel as if you were marooned on a lonely island where every palm tree was shaped like a question mark.

Among the toughest things to diagnose are autoimmune disorders and "syndromes" with numerous, overlapping symptoms, said Maria Hardin, vice president of patient services for the National Organization for Rare Disorders.

Ailments for which there is no single, definite diagnostic test also can lead patients through a difficult process during which doctors try to rule out one condition after another, she said.

"There are about 6,000 rare disorders, and most doctors aren't going to come across them," she said.

Finding the answers you need, according to those who have done so, will require information, support, patience and persistence. Also, perhaps, you'll need a bit of luck.

"The No. 1 thing I would say to the patient is, `Validate what you're feeling. Don't let anyone talk you out of it. ... What you're feeling is real,'" said Kay Moore, a Columbia pediatrician. Moore has been trained in integrative medicine, which embraces alternative as well as conventional therapies.

"You need to continue to seek out someone who will listen," she said.

Schnackenberg said she wasted years on chiropractic treatments that didn't ease her pain, and "hands-on healing" and massages that made it worse.

"I felt it was something deep, deep inside my body," she said. Her neurological disorder is so rare, a support group claims that 95 percent of doctors misdiagnose it.

Since her diagnosis about eight years ago, she has faced painful treatments and risky surgeries. Once unable to drive because she couldn't turn her neck, she is doing better. But she continues to seek help, and she echoed Moore's advice.

"Do not give up, and don't just take the doctor's word," Schnackenberg said. "You know yourself if you are comfortable with what you've heard. If you have doubts, keep looking."

There are drawbacks to the sort of search that takes you from doctor to doctor.

When you consult multiple doctors and specialists, each of whom is seeing you for the first time, it might be harder for any one physician to get a complete, accurate picture of your situation.

"It's the absence of a relationship that sometimes makes diagnosis more difficult," said Dr. Laura West.

"I sometimes find that patients will move from doctor to doctor ... when the problem doesn't go away. Which doesn't really help, because then the second doctor has to go through the same process."

Tricky diagnoses reflect the complexity of practicing medicine and the fact that even the sharpest doctor can't know everything, said West, an Atlanta physician trained in family practice.

It helps if patients can see the process as a problem-solving partnership with a doctor he trusts, she said.

"I always remember what my grandfather said: The patient always knows the diagnosis; you just need to pay attention and separate the wheat from the chaff."

What happens when your doctor can't determine what's wrong?

"I think every physician has come to that point," West said.

She said that sometimes it's helpful for doctors and patients to start again at the beginning, ask questions, discuss symptoms, see whether something was missed. Perhaps, like a wrong turn in a maze, an early decision led to a diagnostic dead end.

Or a doctor who is stumped might refer you to someone like Dr. Preston Church, an infectious-disease specialist at the Medical University of South Carolina.

Your family doctor might know you better, but there's something to be said for the flow of ideas among doctors in a large medical center. Their collaborative approach might help crack a medical mystery that was hard for a patient's personal physician to pin down.

The uncertainty that's so tough on patients also can frustrate their doctors, Church said.

"I think we are expected, with our medical know-how, to have all the answers," he said. "And as physicians, we really like to have answers."

Church encourages patients to think of diagnostic efforts as a "work in progress," and to remember that the most serious, life-threatening ailments usually do not remain mysteries for long.

"People don't die of chronic fatigue syndrome," he said.

"For the first year or so, you really feel like you are dying," said Lorrie Rivers of Columbia.

From the day she was immobilized by chronic fatigue and immune dysfunction syndrome (CFIDS) to the day a year later when she had a diagnosis, Rivers felt "scared, frustrated ... cheated, almost, because I was ready to start my life and I wasn't able to.

"And I was angry."

Rivers, a 28-year-old with the lithe form of a dancer, was an aspiring actress when she was stricken in August 1999. She was a production assistant on "The In Crowd," a movie filming in Charleston, S.C.

"I got really sick one day on the set," she said. "I kept pushing myself, because I wanted to do a good job. But then I collapsed and they had to take me away in an ambulance."

She had fever and swollen glands, and she couldn't keep food down. She said she "couldn't think." After several weeks, she was diagnosed with mononucleosis and was told she'd be fine in a few months.

But three months later, she was not fine. She had been an active 24-year-old who ran five miles every other day. After her collapse, she could hardly move.

Her family doctor couldn't help.

"I think he was getting a little bit fed up with me," Rivers said.

The doctor urged her to get exercise. But after a 15-minute walk, "I would be in bed crying for two or three days."

Rivers looked for information online. She pondered whether she might have lupus or multiple sclerosis. Her physical and cognitive symptoms grew worse.

"Reading a sentence was like trying to put together a puzzle of a thousand pieces."

When her mother sent her a magazine article on chronic fatigue syndrome, Rivers felt she finally might know what was wrong with her.

A rheumatologist diagnosed her shortly afterward, and she started on the rough road to recovery.

According to a 1999 study, 90 percent of people with chronic fatigue syndrome - which is three times more common in women than men - are not diagnosed or receiving treatment. Even with a diagnosis, Rivers said, it was hard to get treated as "a whole person" rather than just a collection of symptoms.

"I often felt that ... I was a lost cause rather than a person," she said.

She looked into myriad alternative treatments. Chiropractic treatments helped, along with "energy work" that involves acupressure. She has worked with an environmental and occupational specialist in Charleston, and now consults online with a doctor in South Africa who prescribes a regimen of supplements that seem to help. (They include antioxidants such as vitamin E and beta carotene, and micronutrients such as B vitamins.)

At times Rivers collapsed, was paralyzed and couldn't even feed herself.

Now that her condition has improved, she can laugh when she recalls that in self-pitying moments, she sang that childhood ditty, "Nobody likes me, everybody hates me, guess I'll go eat worms." (At one point she really did eat worms - a smelly, earthworm-based supplement. It didn't work.)

But she always believed she would get better. She's even building a career as a "life coach," using skills and insights acquired during adversity.

As she found strength for it, she put her creativity to work in therapeutic ways. Rivers wrote (and her brother, Evan, illustrated) a whimsical story based on her experiences, "Ah Pook the Destroyer."

And she is working on a documentary film she hopes will inform and encourage others. The title: "Guess I'll Go Eat Worms."

Alice McCrory managed to bypass the worm-eating phase, but her medical mystery has been no less frustrating. Once a self-described "fit, energetic, Type-A person," the Columbia woman lost her health, her job and her house while fighting symptoms of what turned out to be Lyme disease.

McCrory, 50, believes she was bitten by a Lyme-carrying deer tick while on a business trip to New York in the fall of 1998. Six weeks later, she developed symptoms such as fatigue, stomach pain and cognitive trouble that worsened during the next two years.

"It never occurred to me" that it could be Lyme disease, she said.

It never occurred to her doctors, either; the ailment is seldom seen in South Carolina. In more than a dozen medical consultations, no one asked whether she had traveled before her illness developed.

"I had totally trusted doctors, thought whatever they said was golden," McCrory said. "But I had to pretty much take the responsibility for my own health."

She regrets that so much time was wasted during the early stage of the disease, when it is more easily treated. But she credits persistence, family support and prayer for helping her keep striving for answers. By fluke, she was diagnosed with Lyme in Michigan while seeking to take part in the study of an ailment she turned out not to have - Epstein-Barr disease.

She's had two years of intensive treatment with antibiotics, and some days are better than others. Two years after her diagnosis, she still cannot work. Family members have to do her shopping and driving.

Even so, she feels fortunate to have a diagnosis, insurance and the ability to seek out specialists.

"Never give up," she advised. "Keep pursuing the best medical help you can afford."


(c) 2003, The State (Columbia, S.C.). Distributed by Knight Ridder/Tribune News Service.

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