Friday, February 27, 2015

Rare Disease Day 2015

It's almost Rare Disease Day!!!

The last day in February each year is dedicated to raising awareness of rare diseases and their diagnosis and treatment. A disease is considered rare if it is believed that fewer than 200,000 people have been diagnosed with the condition. There are approximately 6800 rare diseases identified in the United States. Altogether, there are about 30 million people in the USA dealing with a rare disease which comes to about 1 in 10. Rare Disease Day began in Europe in 2008 and the USA joined in 2009. It has grown every year and in 2014, 84 countries held events to raise awareness for rare diseases.

Mast cell disease is considered a rare disease. It includes multiple conditions that are all mast cell related, such as mastocytosis, mast cell leukemia, and MCAS, among others. While MCAS does fall under the mast cell disease header, it is actually believed to affect more people than are currently diagnosed. However, until awareness progresses to where it is not as difficult to diagnosis due to the lack of understanding, it will fall under the rare disease category.

And that's why I'm blogging and posting on facebook about rare diseases today. It has been about 8 years of symptoms significant enough that I've been seeing many doctors and gone through countless tests to figure out what was going on in my body. I've had doctors tell me there was nothing wrong, had doctors tell me it was all in my head, and even had doctors tell me I wasn't sick enough to see them yet. I've lost friends, had to change how I go about my day-to-day life, had to delay my graduation, and endured many unpleasant medical procedures.

No one should have to go through that just because no one knows about a disease. It's one thing to deal with the effects of having a chronic illness, but when you deal with these issues just because no one knows what's wrong...that's hard to handle. It was in January 2014 when we first started looking into mast cell disease as a possible diagnosis for me. My first doctor was incredibly helpful and one of my favorite doctors ever (and that's saying something!), but she just wasn't familiar with these mast cell conditions. I saw 2 doctors that told me MCAS didn't exist and since I didn't have elevated tryptase, there was not really anything wrong. It wasn't until I saw Dr. Afrin, who is one of the experts in this area, that we finally received the diagnosis this past January, almost exactly a year later.

If my blogging and posting can help just one person avoid 8 years of searching and reach a diagnosis that much sooner...that's why I'm here, on social media. Even in the weeks since diagnosis, I've already connected with 2 other people who have suspected mast cell disease. I hope that my story and experiences can help them ask the right questions and get answers faster than I did. And that's why I help raise awareness and share my story so that others can benefit from my experiences. So please, share this post, and help raise awareness for Rare Disease Day 2015!!

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