When I was diagnosed with cold agglutinin disease (CAD), I was shocked, to say the least. The doctor explained it was a rare form of autoimmune hemolytic anemia, a rare disease. I had never been involved with or known anyone who has a rare disease. It leaves you feeling alone and often frustrated.
The odd thing is there are over 7000 rare diseases affecting about 300 million people in the world. To put that into perspective, it is equivalent to everyone in the United States having a rare disease. When you think there are about 10 billion people on the planet you realize it is a small percentage of the total population. However, it doesn’t change the fact that these diseases need to be recognized.
Read about the diagnosis of CAD
There are so many people dealing with different common diseases and then there are the rest of us, struggling with what are referred to as zebra diseases. These rare diseases need to start getting the attention they deserve.
I get frustrated with the medical community because you often find that when doctors can’t figure out what is going on with you, you are passed off to another specialist. You go around and around seeking answers. This is exactly what I experienced, and many other CAD patients have as well. I would bet this has happened to many more patients dealing with the symptoms of rare diseases while they are on their quest to find a diagnosis.
The truth of the matter is not one of us wants to hear it’s a rare disease. It sounds like a death sentence. You then begin to realize what rare means. It means that few studies have been done, there are few researchers trying to get to the bottom of it, and the medical community you are used to dealing with has no idea what to do with you.
Can you imagine what that realization feels like?
I was at an event the other day speaking to a class. I mentioned why I was wearing a mask so the kids wouldn’t feel frightened by it. Although it is commonplace now and there were some teachers still wearing a mask, I felt compelled to mention it. I explained that I was wearing one because I have a rare blood disorder that can affect my heart, so I need to be careful not to get sick and then segway into why I was there, which happened to be about heart health.
It dawned on me that rare diseases were something that I never thought about as a kid, as a teen, or even as an adult. This wasn’t part of my world, and I would guess it is the same for other people without a rare disease. Yet millions of people suffer from one.
How could there not be any advocacy? How is it that because they are rare, hard to diagnose, and beyond the knowledge of a considerable portion of the medical community they are allowed to go under the radar? This should not be the case.
After some research, I did find that there are over 500 organizations that do such advocacy work.
One such organization is National Organization for Rare Diseases (NORD). They work every day to push our mission forward by elevating care and advocating for policy changes to help those with rare diseases. They have an in-depth website that helps make researching easy by utilizing their rare disease research database, patient assistance information, and peer networks.
I wish that I didn’t need to dig for information, I wish that our doctors tell us that they exist and offer up where to go and what to search. Here is one important thing to remember, whether you have a common disease or a rare disease, it is all the same. People are suffering all over the world; the main difference is knowledge. Rare diseases are not part of common knowledge. We don’t fit in the box. We are beyond what medical doctors are used to.
We zebras need to shout it at the mountain tops that we need more research, more funding, more trials, and knowledgeable doctors—from primary care to specialists—to learn the signs of rare diseases and not push you off to another “expert” because they don’t know what to do.
Let’s stop that. Together we can make a difference, and help each other by finding ways to advocate. One small way is to wear your stripes this February 28, Rare Disease Day.