Rare Disease Day

Today, February 28th, is Rare Disease Day. 

Do you know someone affected by a rare disease or disorder? In the U.S., a disease or disorder is considered rare if it affects less than 200,000 Americans at any given time. 80% of rare diseases have genetic origins and 50% affect children. There are somewhere between 6000-8000 rare diseases. So while having a rare disease means that not many people are affected by the same thing, there are many people living with a variation of rare disorders. 

Why should you care?

Although you may not be affected by a rare disease, you may one day face a situation where you or a loved one is. The problem with rare diseases is that there isn't much scientific research done, which means that families struggle to find the answers to their problems. Treatment is not well-established. Many medical professionals are not well-versed in the diseases, usually resulting in a variety of misdiagnoses before the individual arrives at the right answer. But even when you make it to the right answer, you are still at a loss because these diseases have not all been studied to the same extent as more common health problems like heart disease and cancer. 

Almost one year ago, I was diagnosed with a rare disease. I was lucky enough to stumble into the care of a physician who happens to study what I have. While this is great to have a name to describe the funny things I experience, it is also extremely frustrating as research is limited. So imagine having to cope with having a child that has a rare and debilitating disease and not being able to get answers because the doctors just don't know. Imagine that feeling of frustration and helplessness. That is why awareness of rare diseases is important and a celebration of rare diseases today can help us all be grateful for the good things we have while remembering the battles that others are facing and keeping them present in our thoughts and prayers. 

For more information about Rare Disease Day, click here.