Monday, February 28, 2011

Rare Disease Day

Today is rare disease day. People around the country are celebrating the attention that rare diseases are (finally) getting in Congress and elsewhere. I am not celebrating.

Molly is 20 years old. Some of you already read about her last week when I had the privilege of being a guess blogger on Susan Campbell's blog. Molly has complex regional pain syndrome -- a rare disease. Her parents have taken her all over the world -- Mexico, Germany, and across the United States several times -- to try to find a treatment that would allow her to have some semblance of a life. They found the right treatment, but it's expensive and her insurance company won't pay for it. I appealed, and two out of three supposedly independent reviewers said there was insufficient evidence that the proposed treatment was more effective than standard treatment. But there is no standard treatment. Everything else has been tried and failed. And we know this works. I filed a complaint against the two doctors, but even if they find in my favor, it won't change anything for Molly.

That's what it's like to have a rare disease. If you are lucky enough to find treatment at all, you have to fight with your insurer when they say they only want large scale clinical trials. You can't have large scale trials when there aren't enough people to enroll in them, when the treatments are invasive, when the same thing works for some people but not everyone who has the condition or disease.

Having a rare disease means (1) it's hard to diagnose; (2) it's hard to treat; (3) even if y0u find a treatment for it, you have to fight with your insurance company to get it.

Then there are all the social issues -- nobody's ever heard of it. Nobody knows what it is. You have nobody to talk to because you've never met anybody else who has it. People look at you funny. Even your doctors don't know what to say, what to do.

Having a rare disease sucks. I love the fact that, when you compile all the rare diseases, you get to a huge list of 7000, so thousands of people have rarity in common. I'm not against celebrating that kind of togetherness. But tomorrow, when you go back to your usual life, will it have changed?

Let's answer that YES! Rare Disease Day should not be a once a year event. The slogan -- Alone we are Rare; Together we are Strong is true EVERY day, not just once a year. So let's not just think of this once a year; let's think of it every day, of the Mollies and Susies and Dons and Davids, the children, the adults -- all of us, every day, standing together, being stronger together than we are separately. Maybe -- just maybe -- together, we have a real chance at changing the lives of people with rare diseases. Jennifer


  1. thanks Jennifer. It is a bittersweet thing to know that I am not alone.

  2. Amen about rare diseases. It's even hard for us, and all we're asking for is physical therapy.

  3. A rare disease isn't rare when it affects someone we love.