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 mayoclinic.com, the NIH's health.nih.gov, or healthfinder.gov) 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."
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.)
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."