Medical mysteries: When patients must find their own answers to ailments
By Linda H. Lamb
Knight Ridder Newspapers
COLUMBIA, S.C. Ã¢â‚¬â€ Amid the twists in Linda Kaye Schnackenberg's story, none is more bizarre than the way she found the name of the rare ailment that caused her years of pain.
It wasn't through her family doctor.
It wasn't through anyone in the medical community, though Schnackenberg is the wife of a physician.
It was through her hairdresser.
"This crazy neck of mine!" she said during a 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. That's when Schnackenberg first heard the words "spasmodic torticollis" and realized it must be the source of her 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've dealt with medical mysteries, Schnackenberg, 60, said the worst part was not knowing what was wrong.
"It was such a relief. ... Even though I was in terrible pain, it was almost a gleeful feeling to know what it was."
The tough diagnoses
If you've never faced a medical mystery, you're fortunate. It's much easier to cope with a broken arm, an inflamed appendix, a skin gash: definite, fixable things.
But consider yourself warned. Today's nagging little health problem could turn into tomorrow's agonizing mystery.
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's no definite diagnostic test can lead patients through a difficult process as 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."
Finding the answers you need, according to those who have done so, will require information, support, patience and persistence. Also, perhaps, 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 pediatrician. Moore has been trained in integrative medicine, which embraces alternative as well as conventional therapies.
"Continue to seek out someone who will listen," she said.
Schnackenberg said she wasted years on chiropractors who didn't ease her pain, and on 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 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.
"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 with a doctor to doctor search.
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 the complete picture.
The absence of a relationship can make diagnosis more difficult, said Dr. Laura West.
"I sometimes find that patients will move from doctor-to-doctor ... 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, a family-practice physician.
Partnership with the doctor
It helps if patients can see the process as a problem-solving partnership with a doctor, West 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?
"Every physician has come to that point," West said. Sometimes it's helpful for doctors and patients to start again at the beginning, ask questions, discuss symptoms, see whether something was missed.
Or a doctor who's stumped might refer you to an infectious-disease specialist at a university.
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 personal physician to pin down.
The uncertainty so tough on patients can frustrate their doctors, too, said Dr. Preston Church, an infectious-disease specialist at Medical University of South Carolina.
"I think we are expected, with our medical know-how, to have all the answers," he said. "And 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.
"For the first year or so, you really feel like you are dying," said Lorrie Rivers.
From the day she was immobilized by chronic fatigue and immune dysfunction syndrome to the day 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, 28, was an aspiring actress when she was stricken in August 1999. She was a production assistant on a movie project.
"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."
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 soon be fine.
Three months later, she was not fine. She had been running five miles every other day. Now, 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 help online. She worried she had 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 an 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 Ã¢â‚¬â€ three times more common in women than men Ã¢â‚¬â€ 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 looked into alternative treatments. Chiropractic treatments helped, along with 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 vitamin E, beta carotene, and B vitamins.)
At times Rivers collapsed and couldn't even feed herself.
Now that her condition has improved, Rivers 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 Ã¢â‚¬â€ a smelly, earthworm-based supplement. It didn't work.)
But she always knew she'd get better. She's now a "life coach," using skills and insights won through adversity.
As she found strength for it, she put her creativity to work in therapeutic ways. Rivers wrote a whimsical story based on her experiences, "Ah Pook the Destroyer." And she's making a documentary to encourage others. The title: "Guess I'll Go Eat Worms."
Alice McCrory managed to bypass the worm-eating, but her medical mystery has been no less frustrating. Once a "fit, energetic, Type-A person," she lost her health, job and house fighting Lyme disease.
McCrory, 50, believes she was bitten by a Lyme-carrying deer tick while in New York on business. Six weeks later, she developed 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 Ã¢â‚¬â€ 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."