Misdiagnosed: What to do When Your Doctor Doesn't Know

http://www.aarp.org/health/conditions-treatments/info-06-2011/what-to-do-when-your-doctor-doesnt-know.html

No one knew what was wrong with Tom Hopper. In 2007, at 64, the Baltimore accounting consultant began losing weight, which he welcomed at first because he needed to go on a diet. But a few months later Hopper was crippled by episodes of uncontrollable vomiting and diarrhea, sometimes for upward of seven hours, which left him dehydrated and delirious. Cramps in his legs were so painful that he often couldn't stand up.

Over the next five months, Hopper was hospitalized five times and received various diagnoses. During his first emergency room visit, doctors concluded he had food poisoning. When he returned after the next vomiting attack a few weeks later, physicians ran a series of tests but found nothing.

And on it went, month after month. Different doctors had different theories.

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If Hopper's story sounds familiar to you, you're not alone: Twenty-five million Americans suffer from rare illnesses, many of which go undiagnosed for years, according to statistics compiled by the National Institutes of Health (NIH). A study published by the Mayo Clinic found that the true cause of illness had been either missed or misdiagnosed in roughly 20 percent of patients who underwent autopsies after dying in the intensive care unit. An analysis of diagnostic errors published in The Journal of the American Medical Association suggested that approximately 10 percent of all hospital deaths involve a major diagnostic error. Not surprisingly, the cost is high: Legal-claim payouts alone for diagnostic errors account for more than $2.5 billion a year, a recent analysis by Johns Hopkins Hospital in Baltimore shows.

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Yet with a price tag attached to every minute of a doctor's time, physicians spend less time with each patient than they used to, and they increasingly rely on tests to provide answers. When those tests are inconclusive or inaccurate, the patient and his or her physicians may find themselves traveling down the wrong treatment path. "There are lots of diseases that can look like something else," explains Sanders. "And that's where clinical judgment and experience are essential. Doctors see test results as coming straight from God. But just because a test gives you a yes or no answer doesn't mean it's right."

Such was the case with Tom Hopper. At Massachusetts General Hospital he underwent another round of extensive testing, but nothing proved definitive. Then one internist, Michael Barry, M.D., noticed that as soon as Hopper switched from a liquid diet to regular hospital food, he got sick. Barry spent an hour at Hopper's bedside, asking detailed questions about his extended family's medical history, including where his ancestors came from.

A DNA test confirmed Barry's suspicions: Hopper had a gene marker that made him especially susceptible to celiac disease, a fairly common autoimmune disorder characterized by an inability to process gluten — despite having had previous blood tests come back negative. It turns out that the blood test for celiac is negative in about 10 percent of those who have it. " By then I had seen dozens of doctors and six digestive specialists," recalls Hopper, " but none apparently understood the importance of looking at my diet."

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hardly a week goes by without the discovery of yet another disease-associated gene or mutation. "For a practicing physician who's already incredibly busy, keeping up with this deluge of new information is like trying to drink from a fire hose," says Kastner. "There's just so much of it to take in."

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In the absence of a diagnosis, treat your symptoms
"Don't give up looking for a diagnosis, but for God's sake start treating the symptoms," Lisa Sanders says. "Try to figure out how to manage your disease — through lifestyle changes, medication, whatever it takes — so you can have a life."

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