10 Steps to Avoid Being 'Underdiagnosed' When You Have a Rare Disease


I belong to multiple support groups, research societies and rare disease organizations, and I have found that being underdiagnosed is just as big of a nightmare as being undiagnosed. We often hear medical providers say things like, “It sure seems like you have it,” or “It sure looks like you have it.” Both of these phrases mean absolutely nothing, and in their own way are just as dismissive. I want to share a little of my story as a way of helping others better understand how harmful being underdiagnosed truly is.

When I first started having unusual symptoms, it probably took me about 30 years to understand what was going on with my body. Through my own research, I felt and still feel strongly that I have Dercum’s disease. Last year was the first time a doctor actually agreed with me, but she did something unusual, she did not make a diagnosis related to an ICD10 code (an official code that refers to the International Statistical Classification of Diseases and Related Health Problems). Instead, she entered the closest thing her system could find to my disease. She also did not diagnose what type of Dercum’s disease I have, which leaves doctors and social security disability unable to know that I actually have the disease.

I call this “underdiagnosed” and I have found it to be common. A medical provider will indicate someone has a rare disease, but when they do the write-up for the diagnosis, these same doctors often do not indicate that their patient has a rare disease, or their knowledge of ICD10 codes is limited and based on what their program is designed to find.

So, we leave the doctor feeling mighty, thinking finally, “I’m diagnosed!” It is not until you or another doctor reads the report that you find the disease the doctors said you have is nowhere to be found on the report.

Many people with rare diseases have been left to deal with an underdiagnosis. Still, no one believes you, and in my case all the money that was spent to travel to the doctor and all the money spent out of pocket to see the doctor is wasted. Many of us spend large amounts of money–that we are often very short on because of disabling diseases — on seeing a specialist to get that precious diagnosis.

I have put together a list of easy steps you can take ensure that what your doctor said actually makes it in a report as a formal diagnosis.

  1. If at all possible, bring someone trusted with you to the appointment.
  2. Ask them to clarify in their notes what disease you have, just in case there is no ICD10 code.
  3. Make sure that before you go to see this doctor that you ask around in the support groups for anyone who has seen that particular doctor. Their advice may be helpful.
  4. Myself and others have put together databases of medical providers who are knowledgeable about our rare disease. You should look around on Facebook and Twitter for groups related to your disease to see if there is a provider database.
  5. Study your suspected disease and if there are different types, make sure, and ask your diagnosing providers which type you have.
  6. Ask for a plan of care. Many specialists realize that your primary care doctor will be managing a lot of your treatment, so just ask for a plan of care that you can take to your primary doctor.
  7. Always understand that just because a doctor did not write the diagnosis correctly or with care, you are still capable of asking for guidance once you see the doctor’s write-up.
  8. If your provider wants you to seek a specific kind of treatment, ask them to write in the notes which types of doctors you should see and for what.
  9.  If you travel to see a doctor, always communicate that you are a traveling and may not get to have many appointments again with them. Ask them to write all notes up in a clear manner, so my other providers can understand.
  10. This one is really important. Use Google, and find what ICD10 codes are associated with your disease state. Don’t be afraid to ask the doctor about the codes.

This list was compiled from my own experiences and the experiences of others. Hopefully, it can help you avoid the dreaded underdiagnosis.


Find this story helpful? Share it with someone you care about.