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

Why patients suffer and what you can do to get help

En español | 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. Some thought he had a virus. Others thought he had a digestive disease. One even recommended that he have his gallbladder removed. "Let me think about that," Hopper wisely responded.

The next specialist suggested shaving off part of an intestinal muscle to create a larger opening to his bowel. This time Hopper agreed. "When I woke up from the anesthesia," he says, "the doctor told me I'd never have to see another doctor for the rest of my life."

But that prediction was premature. On a flight to Boston just a few days later, Hopper began vomiting. Once the plane landed, medics rushed him to Massachusetts General Hospital, where he stayed for 11 days. Exasperated, Hopper insisted to the new group of physicians: "Look, I'm not leaving here until you find out what's wrong with me."

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.

But the financial cost pales in comparison with the emotional and physical toll. Patients who go for years without a diagnosis often are "medical disasters," says William Gahl, M.D., Ph.D., director of the NIH's Undiagnosed Diseases Program, which was launched in May 2008 to study some of the most difficult-to-diagnose medical cases. "They may be given diagnoses based on spurious test results that lead to treatments that are inappropriate or even harmful," he says. "And living for years without a diagnosis can accrue all sorts of complications. People come to us having had unnecessary surgeries, and compression fractures and osteoporosis from taking steroid medications."

The problem is complex. Not only do many illnesses mimic others, but physicians sometimes lack the time or expertise to arrive at a definitive diagnosis. This can occur particularly when a patient has a rare disorder or a common illness with an unusual symptom, says Lisa Sanders, M.D., a Yale University School of Medicine professor who writes the Diagnosis column in The New York Times Magazine. The good news is that patients can do a lot to help their doctors reach the right diagnosis sooner.

Why Diagnoses Are Missed

Medical experts agree that diagnostics is a weak link in medicine. "Our nation's medical system is wonderful at crisis care but does not have a good record when it comes to diagnosis," says Marianne Genetti, executive director of In Need of Diagnosis (INOD), a Florida patient-resource organization.

Yale physician Sanders has identified three primary reasons behind the failure to diagnose: mistakes in how doctors think, overreliance on specialists and medical testing, and the human body itself, which can experience a multitude of ailments but has limited ways to communicate those ailments.

"In medical school we're taught that the way to make decisions is to go with what is most common first," Sanders says. "It's drilled into us: When you hear hoofbeats, think horses, not zebras. And that's great if you have what most people have. But that approach completely falls apart if you don't, and then determining a diagnosis requires unusual thinking."

Charmaine Frederick, now 59, is a perfect example. In 2002 the registered nurse from Orlando began falling down, her sense of smell diminished, and her handwriting became illegible — all common symptoms of Parkinson's disease. But because the disease usually emerges in much older patients, the dozen doctors she consulted ruled it out. Finally, Frederick made an appointment with Florida neurologist Ira Goodman, M.D., who noticed that she blinked only a few times during the office visit, a sure sign of Parkinson's. "If you're not really paying attention to what's in front of you, subtle things can just breeze by," Goodman explains. "Things are missed all the way up the medical chain, and you have to really climb the ladder to find the right specialist."

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."

Hopper is not the only patient to benefit from DNA testing. At the National Human Genome Research Institute, scientific director Daniel Kastner, M.D., Ph.D., and his team of researchers have increasingly used human-genome sequencing techniques to identify new diseases.

In 1999 Kastner and his team observed several families whose members suffered with similar symptoms of fevers, severe abdominal and chest pain, and skin rashes. Using a DNA analysis of their blood, the team identified mutations in one gene that caused a host of previously undiagnosed inflammatory diseases. "It wasn't even in medical textbooks and no one had a name for it," Kastner says today.

Since then, with further advances in human genetics as well as in cell and molecular biology, 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."

What You Can Do

Knowing how and why diagnoses are missed might help you steer your own doctor in the right direction. Here are some steps you can follow.

Keep detailed records
"Patients need to be good reporters of their symptoms and keep organized records," advises Kastner. Some patients who have been accepted into the NIH's Undiagnosed Diseases Program have shown up with binders full of lab tests, X-rays, and hospital admission records. "All of this is very helpful to us," Kastner adds.

Come prepared to ask the right questions
Diligent research from respected websites (such as the Mayo Clinic's, the NIH's, or can help you identify the right questions to ask your doctor, so you can maximize the time allotted. "The more questions you ask, the more likely it is that you'll have a better outcome," says neurologist Ira Goodman. Some sample questions: Is there more than one disease that could be causing my symptoms? How good are the tests for diagnosing this condition? "But let your doctor know if you feel you're being rushed — ask him or her to slow down," says Stefanie Putkowski, clinical-information specialist with the Connecticut-based National Organization for Rare Disorders. "And if possible, bring someone with you who can take notes."

Be assertive
As a longtime registered nurse, Charmaine Frederick knew that a brain MRI could rule out neurological disorders like MS as the cause of her symptoms. "You may not always get what you ask for," she says, " but you have to be informed and assertive in your care and treatment." (An MRI is not effective in the diagnosis of Parkinson's, as the brains of Parkinson's patients appear normal.)

Be honest
It's important to share with your doctor any information that might be pertinent, including illicit drug use, alcohol intake, even alternative medicine therapies. According to a recent AARP/NIH study, of the 38 percent of adults who had used complementary and alternative medicine (including herbal medicines and supplements) in the previous 12 months, only 42 percent had informed their doctors they were doing so.

Explore new avenues
Patient-advocacy organizations such as In Need of Diagnosis — and others that represent the interests of patients suffering from a particular disease — often try to match patients with the right medical specialist. "We help people find cutting-edge doctors who think outside the box," says INOD's Genetti.

Trust your gut
"Many people don't realize they have every right to keep searching " for answers if they aren't getting better, says Putkowski. Get a second opinion or a third.

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."