How you can lower your risk of misdiagnosis if you have a rare health problem

Recent vaping-related illnesses are an example of something that can happen with any new or rare health problem. When faced with a new or rare condition, patients may face a higher risk of being misdiagnosed. For example, when patients who were eventually diagnosed with vaping-related illnesses first sought treatment, most were believed to have pneumonia or flu because their illnesses shared symptoms with these more common illnesses. But their conditions didn’t improve with the usually effective treatments for these disease and many ended up in the ICU.

When the first of the currently more than 2,000 cases of vaping-related illness and 39 deaths caused by the condition appeared, doctors didn’t have other cases to compare what they were seeing to, which made diagnosis more difficult. Patients were also spread across the country, with cases occurring in 49 states, and many were being treated in community hospitals, so information about these unusual cases wasn’t being widely shared among doctors, further complicating the process of diagnosis.

Vaping-related illness is just the latest example of how complex and difficult it can be to diagnose a new or rare health problem. Like many rare diseases, these illnesses share symptoms with much more common conditions, so patients run a higher risk of being misdiagnosed and receiving treatment that’s ineffective as they continue to get sicker.

Another issue is a lack of awareness of rare conditions among doctors. Frequently little information is shared between doctors outside those who specialize in rare diseases, so it can take seven to 10 years for patients to receive a definitive diagnosis. And when patients have spent years going from doctor to doctor seeking an answer to what is causing their symptoms, they may face skepticism from healthcare providers who suspect the root cause of the symptoms is psychological rather than physical.

Getting an accurate diagnosis in a timely fashion

So, what can patients do to help them get an accurate diagnosis in a timely fashion? These three strategies may help.

• Patients and their families should be advocates and take an active role in their care. Speak frankly with your doctor about what symptoms you experience, when they began and how frequently they occur, what makes the symptoms more and less severe, and what diagnoses other doctors have suggested as well as what treatments have been tried with or without success. You also need to provide a complete family health history and be honest with doctors about your lifestyle. That means sharing details about smoking, use of recreational drugs and alcohol, and sexual history. The more detailed information the doctor has, the better able he or she will be to get a complete understanding of your risk factors, which play a key role in the process of diagnosis.
• Get a second opinion. If you suspect you may have a rare condition or have not received a definitive diagnosis in a timely manner, a second opinion from an experienced specialist can be valuable. Second opinions can give you access to additional diagnostic tests and new research and clinical trials that can help lead to an accurate diagnosis and effective treatment plan.
• Up-to-date medical records play an important role in the diagnosis of rare conditions. Patients who are eventually diagnosed with a rare condition usually have large and complex medical records that contain information from many different healthcare providers and span many years. Creating and maintaining a comprehensive medical record, whether it’s in an electronic or paper format, provides the doctors who are treating you with a complete overview of your medical history and the course of the condition, essential information for accurate diagnosis.