Strategies to help you get the right diagnosis for a rare disease

Getting an accurate diagnosis is the first step towards finding the right treatment. But for people living with a rare or complex disease, getting that diagnosis can be a long, frustrating process that delays treatment. Depending on which disease you face, getting a definitive diagnosis can take from 7 to 10 years. And though approximately 7,000 diseases are classified as rare, they actually affect a significant number of people in the U.S. More than 30 million Americans, or 1 in 10 people, most of them children, are living with a rare disease.

Why are these diseases so difficult to diagnose?

• Rare or orphan diseases are those that occur in fewer than 200,000 people in the U.S., so very few doctors, including many specialists, are familiar with their symptoms. This often leads to patients who are living with these diseases receiving misdiagnoses.
• The symptoms are often similar to other, more common conditions or are nebulous, for example weakness, coughing, or dizziness. Physicians are trained to consider the most common conditions first, so they may not consider the possibility of a rare disease.
• 80% of rare diseases are genetic. If your physician doesn’t include genetic testing as part of the diagnostic process, the diagnosis can be missed.
• Physicians can be skeptical of patients who report they have a health problem, but no other doctor has been able to correctly diagnose it. They may discount symptoms or tell the patient that the root cause is most likely psychological.

Steps to help you get the right diagnosis

If you or a loved one has had difficulty getting an accurate diagnosis, you should consider the possibility that you may be living with a rare disease. These strategies may help you get the diagnosis you’ve been seeking: 

• Advocate for yourself. Tell your doctor about all the symptoms you’re experiencing, how long you’ve had the symptoms, what seems to make them worse or better, and what previous diagnoses you’ve received and treatments you’ve tried. If your doctor offers a diagnosis, ask what other conditions may also cause these symptoms. And if your doctor doesn’t seem to be taking your symptoms seriously, see another doctor.
• Get a second opinion. If you have difficulty getting a definitive diagnosis or suspect you have a rare or complex condition, seek a second opinion from an experienced specialist. A second opinion can provide access to additional diagnostic testing, specialists such as geneticists, and the latest clinical research.
• Track your symptoms. Your doctor only sees you during your appointment, but you live with your condition all day every day so you’re more aware of your symptoms. Keep a record of what symptoms you experience, their severity, and possible triggers and share this information with your doctor to give him or her a broader and deeper picture of your condition.
• Keep your medical records up to date. People living with a rare disease often have large, complex medical records with information from many physicians, labs, imaging facilities, and other healthcare providers. Make sure you’ve gathered your complete medical record, review it for accuracy, and share the information with each physician you see.