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Why Is Getting A Rare Disease Diagnosis So Difficult?

It can be a long, frustrating process

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Updated August 21, 2009

Getting a rare disease diagnosis can be difficult

Getting a rare disease diagnosis can be a long, frustrating process

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Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis, are misdiagnosed or have one diagnosis then another. There are many reasons why getting a rare disease diagnosis can be a long, frustrating experience.

Your disease is rare

It may seem obvious, but the very fact that a disease is rare makes it very difficult to be recognized. You may see many doctors before you finally find one who knows something about what you have. Some diseases are so rare that only a geneticist (genetics specialist) would be able to identify them after genetic testing is done.

Your symptoms are 'nonspecific'

Some rare diseases have symptoms, such as weakness, anemia, pain, vision problems, dizziness or coughing. Many different diseases can cause these symptoms, so they are called “nonspecific,” meaning they are not signs of a specific disease. Doctors are trained to look at more common causes of symptoms first, so they may not be thinking along the lines of a rare disease when they examine you.

Your symptoms are unusual

It seems logical that having an unusual symptom would help in pinpointing a diagnosis. This is true if the doctor examining you is familiar with a disease that causes the symptom. If he or she doesn’t know of any disease that causes the symptom, then most likely you will be referred to a specialist who may know something about your condition.

You don’t have 'textbook' symptoms

You may have a rare disease, but your symptoms do not fit the “classic” or typical picture of the disease. You may have symptoms that don’t usually go along with the disease, or you may not have all the symptoms that are expected with the disease. Doctors may hesitate to diagnose you with the rare disease because of this.

You have been waiting forever to see a specialist

It’s difficult to get an appointment with some doctors, most of all those who specialize in rare diseases. It may be 3 to 6 months before you can see someone who has a heavy schedule. It can be disappointing to wait a long time only to be told that they’re not sure what you have or that they want you to go see another specialist.

Telling your story was easy the first 50 times

I know a mother of a child with a rare disease who has typed up some pages explaining what her daughter’s disease is, her medical and surgical history and her current medications. The mother hands copies of these pages to each new doctor who examines her daughter so she won’t have to repeat everything yet again. You may feel as frustrated as she does, having to give the same information many times. It may seem as if the doctors don’t read your chart or look at your test results. Seeing new doctors adds to the stress of getting a diagnosis.

NIH Undiagnosed Diseases Program

Sometimes, despite seeing the best specialists, you can’t get a correct diagnosis. Doctors may use words such as “of unknown etiology” or “idiopathic” (meaning, “we don’t know what causes it”) or “atypical” (meaning “unusual”). You may be given a diagnosis that best fits your symptoms, or given two or more diagnoses together.

Recognizing that people with rare diseases may have difficulty getting a diagnosis, the U.S. National Institutes of Health (NIH) started the Undiagnosed Diseases Program in September 2008. This research program will evaluate 50 to 100 cases of undiagnosed diseases to try to provide answers to people with mysterious conditions and to advance medical knowledge about the diseases. If you have a medical condition but no diagnosis, talk with your doctor about participating in this program. Information specialists at the Clinical Centers Recruitment Call Center (1-866-444-8806) can provide more information about eligibility and what kinds of medical information your doctor needs to submit for review.

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