Undiagnosed or Misdiagnosed ? You May Have a Rare Disease

"Orphan diseases" may be your answer.

The Internet has several rare disease resources.
The Internet has several rare disease resources. Blend Images - Hill Street Studios/Getty Images

One reason you may be undiagnosed or misdiagnosed is because you have a rare disease -- one that is so unusual that your doctors can't identify it. Rare diseases, sometimes called "orphan diseases," are so-named because they affect so few people. Then, logically, since they affect so few people, there are fewer medical professionals who know much about them or even recognize their symptoms. That's the first reason they are so difficult to diagnose.

Nothing is more frustrating than a set of symptoms and no name that goes with them. There are more than 6,000 named rare diseases. As time goes on, more are discovered and named regularly. Some of these rare diseases or conditions are acquired environmentally. Others are genetic, present at birth, or maybe appearing later in life.

The Internet Helps Connect People with Rare Diseases

Over time, and especially during the past few years, use of the Internet has allowed the sharing of information about these rarer health problems. As a result, patients are able to connect with other patients and with the professionals who can help them diagnose and manage their illnesses on a global scale. As more people with rare disorders and diseases connect with each other, the body of information about the diseases multiplies. Over time, it's possible these connections will make rare diseases easier to diagnose and treat.

My own misdiagnosis involved a rare disease called "subcutaneous panniculitis-like T-cell lymphoma." When I was diagnosed in 2004, there was almost no information available about SPTCL. I was told fewer than 100 cases had been reported in the previous decade -- yes, rare! I had to develop my own ​differential diagnosis list in order to disprove that diagnosis.

Now I find SPTCL listed on rare disease websites, with some useful information.

The possibility of having a rare disease demands someone be a truly empowered patient. If you have had trouble getting a diagnosis, or if your treatment isn't working well and you think you may have been misdiagnosed, you may want to look further into the possibility you have a rare disease.

Here are some steps to take to determine exactly which rare disease you might have.

Rare Disease Internet Resources:

  • Find support groups at any of the rare disease sites listed above, or at Rare Share.
  • Each year, rare diseases are recognized on Rare Disease Day, usually the last day in February.

These resources will show you that you are not alone if you have symptoms that can't yet be classified or if you have been diagnosed with a rare disease.