Reasons Why Getting a Diagnosis Is So Difficult

Getting the Right Diagnosis of Your Disease Can Be a Frustrating Journey

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Getting the right diagnosis is often a major hurdle to getting the correct treatment for your illness. It is especially challenging for someone with a less commonly known disease. Many people are unable to get a diagnosis, are misdiagnosed, or have multiple, contradicting diagnoses from different physicians.

Seeking answers for why you have been feeling sick can be a long and frustrating experience.

Many people describe the experience as a roller coaster ride or "journey" because of the tumultuous nature of medical testing and having to navigate the unknown.

Why Getting a Diagnosis is So Difficult

There are many reasons why your doctor may be having difficulty diagnosing your condition. Here are some of the top reasons that could be causing the delay in your diagnosis:

Your Disease Is Rare

You may see many doctors before you finally find one who knows something about your specific condition. Some diseases are so rare that only genetic testing done by a geneticist (genetics specialist) may identify a lead cause.

A rare disease occurs in less than 200,000 individuals in the United States  or less than 5 per 10,000 individuals in the European Union. Unless there are recorded cases of what you are experiencing, it can be very hard to compare your symptoms against all of the other possible diseases out there.

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 first examine you.

Your Symptoms Are Unusual

It seems logical that having an unusual symptom would help in pinpointing a diagnosis, but this is only true if the doctor examining you is familiar with a disease that causes the same particular symptom. If your doctor doesn’t know of any disease that causes that symptom, then you will probably 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 may 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 can be difficult to get an appointment with a doctor that specializes in rare diseases, sometimes taking anywhere from 3 to 6 months before you can see someone. It can be disappointing and frustrating to wait so long only to be told 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 mom of a child with a rare disease who has typed up four pages explaining what her daughter’s disease is, her medical and surgical history, and her current medications. She 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. 

When There Is No Diagnosis Available

Sometimes, despite seeing the best specialists, you just aren't able to 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.

The NIH research program evaluates about 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.

It is important to keep seeing your doctor for regular follow-up visits even if you do not have a diagnosis for your condition at the moment. Your doctor can keep track of any health changes, come across new information as time goes by and collect clues that might lead to an eventual diagnosis. 


National Human Genome Research Institute. Learning About An Undiagnosed Condition in an Adult.

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