It’s Rare Disease Day!
If I had to wager, I’d say that you didn’t know that Rare Disease Day existed. I didn’t either until my daughter was diagnosed with one last year. My teenager Rosie has Postural Orthostatic Tachycardia Syndrome (POTS) and she quite possibly has another called PLEVA but we can’t get a conclusive biopsy. Both of these conditions are on the NIH list of rare diseases because there are fewer than 200,000 people in the United States afflicted by them. 50% of rare diseases touch children.
Finding out that my daughter had a rare disease was easy. We got an answer- a diagnosis. However, we’re still fighting to find out why she’s been spitting up blood for one year, two months and 29 days. Lack of diagnosis is common with rare diseases because there’s not a lot of research out there and it’s often hard to find information. That’s why it’s important to have a day to raise awareness both in and out of the medical community.
Why is awareness important? As I’ve written before, many of these illnesses are invisible; you can’t see them but they’re there. On a good day, my daughter looks like every other healthy teenager in the world, so both adults and her peers doubt that she’s sick. That’s a problem. Chronically ill people shouldn’t have to explain themselves all the time nor should they be called lazy or liars. Education is the key but finding compassion for others is vital.
Even more important, is the need for the medical community to be educated when it comes to a rare condition. A year ago, we were searching for the answer to a strange rash on my teen’s legs that just happened to leave the head Dermatologist at our local children’s hospital stumped. At one point, we had the entire department (including medical students and residents) in our room to check it out. This is just one example of how baffled physicians can be when it’s something they haven’t seen before. It’s now almost humorous to see a doctor’s face when we talk about spitting up blood. Here’s the thing. Physicians shouldn’t be shocked. That’s why we need more research and information readily available about rare diseases.
So, where can you go for more information? The CDC’s Genetic and Rare Diseases Information Center has a lot of information (including an Undiagnosed Diseases Network that we’re going to be applying for). The National Centers for Rare Disorders list is not as comprehensive with 1,200 diseases listed. However, there is a wealth of information for patients, physicians and families, including how you can advocate at the state level. If you happen to live in Europe, that’s where Rare Disease Day originated back in 2008 so there’s comprehensive information on their site. There are events all over the world today. Check them out.
Want to start smaller? Begin at home. Chances are there’s a child with a rare disease at your school. Take the time to educate your children about the disease. Coach them on the appropriate things to say when they are around someone different from them. Teach them to be empathetic. If we just take a moment to start at home, the next generation will grow up to make the world a much better place.