Monday, February 29, 2016

Rare Disease Day 2016

Happy Leap Day!

It is only fitting for a day to raise awareness for rare diseases to take place on a day that only comes once every four years!

According to the National Organization for Rare Disorders, there are over 6800 identified rare diseases. In the United States, a disease is classified as rare if there are fewer than 200,000 people diagnosed with that condition, and it is estimated that approximately 1 in 10 Americans has been diagnosed with a rare disease. Since most of us know more than 10 people, it's safe to say that we all probably know multiple people impacted by a rare disease.

One of the comments I hear most often is "Well, you look good!" Out of those 6800 rare diseases
almost 90% are considered invisible illnesses. That means that you may never know anything is wrong unless they tell you.

Want to know the most staggering statistic about rare diseases?

Of those 6800 identified rare diseases, 95% have no FDA approved treatments available for patients.

Let that sink in for a moment.

For almost 30 million Americans, there are ZERO approved treatment options for their disease.

As a mast cell disease patient, I fall into that category. If you've been around this blog for any amount of time, you've probably caught a glimpse of what that looks like.

It means no clear cut answers. We do our best to treat the symptoms, but when new symptoms appear or the medications don't seem to be working anymore or the side effects are as bad or worse than the symptoms they're suppose to treat, we're left desperately grasping at straws for what to try next.

30 million.

That's how many Americans spend hours, days, and months seeing doctors and living in hospitals with NO ANSWERS because there are none. I live in that category, and I know the desperation that comes when symptoms are out of control, doctors have no answers, and I'm left curled up in pain crying in the bathroom because there is nothing else for me to do. NO ONE should have to make the decision of whether or not to go to the ER because the reality is that there is nothing the doctors can do yet symptoms are out of control again.

Last week I posted about starting a new treatment, Xolair injections. We have been trying to get this approved since November. Technically it's still not approved, we just got a sample injection to try in the meantime. Xolair has been having incredible results in the mast cell community, yet it is still taking us 4+ months to get insurance approval, and I'm not alone in that. Why? Because it's not an approved treatment for mast cell diseases. Mast cell diseases still aren't considered a billable diagnosis to insurance companies yet, so any treatment for them is denied as either "not medically necessary" or "not proven effective for the stated condition." So what are we supposed to do, just wait around until they finally decide mast cell diseases actually exist?


We make noise. We educate the nurses on staff with our insurance companies who have never heard of mast cell diseases. We bring published peer-reviewed journal articles to the doctors and nurses that care for us so they can understand our bodies a bit better. We take time out of our lives to share with anyone who asks about our service dogs or feeding tubes or other medical devices just to get word out. We do everything we can to raise awareness for mast cell diseases so families who are just starting on this journey that has changed our lives don't have to live without hope of treatment or answers.

Last week I introduced Sarah, my Running for Rare Diseases team partner. She along with dozens of other runners are running either the Boston Marathon or NYC Marathon to fundraise for the Undiagnosed Diseases Program at NIH. The format of the R4R team is that each runner gets paired with a patient partner (in this case that would be me =P) to make the reality of what living with a rare disease more tangible. Many of the runners work at companies that are dedicated to research developing medications for these rare diseases that have no approved treatments. Through this partnership of the runners and patients, the goal is to raise awareness for the desperate need for research and funding in the rare disease community.

So today when you're having fun Leap Day celebrations or just going about life as normal, PLEASE, take a moment to consider supporting Sarah and me and the R4R team. We cannot raise awareness without an audience, so thank you for taking the time to read this. There is such a desperate need in the rare disease community for awareness and ultimately funding. So please, consider going one step further. Take just one more moment and share. Share this blog post, share your own facebook status, share a recorded youtube video, whatever works for you, but PLEASE, help us get the word out. If you would like to go step further and help us not only raise awareness but also funding for research, you can give on Sarah's R4R team page here.

Alone we are RARE, together we are STRONG!

Thank you for helping to be our strength today to raise awareness for Rare Disease Day and everyday to remind us the we are not alone in this season of life.

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