Medical Mystery: When You Can't Get a Diagnosis

Something’s wrong with you—and no doctor can pinpoint what. Here’s how to handle this frustrating but surprisingly common situation 

By Meryl Davids Landau
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Photograph: Yasu + Junko

During this hiatus, you might take a more holistic approach to healing by adopting a healthier lifestyle: Get enough sleep, exercise regularly, reduce your stress levels and improve your diet—and see if these measures are enough to cure what ails you.

Changing your diet can be tough, but in some cases the results are dramatic. For years, Kristen Johnson, 51, who lives in San Diego, suffered from migraines, digestive problems, depression, aches and pains. Then she decided to seek out an MD with a holistic bent (find doctors with this orientation through the Institute for Functional Medicine, functionalmedicine.org). The physician thought she might be severely sensitive to certain foods, especially wheat, corn, soybeans and sugar. Eager to try anything that could help, Johnson made over her pantry. “I swooped into my kitchen, tossed out all the processed foods and stocked up on vegetables, fish, poultry, fruits and yogurt,” Johnson recalls. After a couple of weeks, she found relief, and within a few months, she felt truly healthy. “I still get the occasional migraine, but it’s always after I accidentally eat something hidden in restaurant food,” explains Johnson.

Step 4 Call in the Experts
If you’ve followed the advice above and haven’t made progress, it’s time to seek out a topflight physician in a specialty related to your concerns (for instance, a neurologist if you have unexplained tremors). “Always keep your regular doctor in the loop, because if you still don’t have answers after seeing the expert, you’ll want to return to your doctor to discuss other options,” says Leibowitz of Health Advocate.

The best specialists can be found at large hospitals or, better yet, at teaching hospitals affiliated with medical schools—even if these are a long drive away. It’s especially important to seek this top level of expertise once you’ve seen and stumped other doctors, since that means you’re more likely to have a rare condition, says William A. Gahl, MD, PhD, director of the NIH Undiagnosed Diseases Program.

“Doctors at a university center usually have the most up-to-date information on rare diseases, and they have an array of specialists that can address them,” he says. Working through your physician, you can also get second opinions without an in-person examination from such top-rated institutions as the Cleveland Clinic (clevelandclinic.org; click on My Consult), Johns Hopkins Medicine (hopkinsmedicine.org/second_opinion) and Partners Online Specialty Consultations (econsults.partners.org), which connects to Harvard-affiliated doctors. The fees might be hefty but could be worth the expense.

Step 5 Be Prepared for a Diagnosis to be Wrong
Sometimes the problem isn’t that you’re unable to get a diagnosis but that you’ve received an inaccurate one. Mistakes are not uncommon: Autopsies performed on patients in one university hospital found that up to 32 percent of them had been given serious misdiagnoses. “If your treatment isn’t making you feel better, don’t immediately look for other therapies. Your first move should be to confirm that your doctor got the diagnosis right in the first place,” says Falchuk of Best Doctors. That typically involves sending all your records to an expert or, in the case of cancer, asking that a different pathologist examine your tumor sample. One of Falchuk’s clients, who was being treated for cervical cancer, discovered in this way that she actually had colon cancer that had spread to her cervix. Because cancer treatment is specialized, she had been getting the wrong drug. “It’s important to keep asking questions to ensure your diagnosis is right,” Falchuk says. “The worst that can happen is that your doctor may feel annoyed.”

And what’s the best that can happen? Your questioning may well save your life.  

First published in the March 2012 issue

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