Wednesday, March 1, 2017

Rare Disease Day 2017

Happy Rare Disease Day 2017!!!

In case you didn't know, Rare Disease Day falls on the last day of February each year. That means that every 4 years, a day celebrating rare diseases is celebrated on the rarest day of the year, Leap Day! Sadly, this year is not a leap year, but that doesn't make today any less important (just slightly less cool =P).


Some of you may have never heard of Rare Disease Day, some of you may have only heard about it from reading my blogs over the years, some of you may be personally impacted by a rare disease as well, whatever the reason, THANK YOU for taking the time to read this post and being a part of raising awareness for the almost 7000 identified rare diseases!

In the USA, a disease is considered to be a rare disease when fewer than 200,000 people have been diagnosed with it. Mast cell diseases as a whole currently fall under that criteria...for now...There are multiple forms of mast cell disease, and while some are definitely very rare, others are still under diagnosed. That means that as more doctors and hospitals are educated in what to look for and how to recognize some of these mast cell conditions, not all mast cell diseases will continue to be in the rare category. 

I was originally diagnosed with Mast Cell Activation Syndrome a little over 2 years ago. This is the most common form of mast cell disease, and will possibly lose its rare label within the next 5-10 years as awareness spreads throughout the medical community. Hopefully as that happens, research will continue to offer better treatment options as well! 

Now, I say "originally diagnosed" because in the 2 years since being given a name for my symptoms, some questions have been raised by a few of the experts in the mast cell community as to whether my diagnosis is complete. Some of my test results point toward a slightly different form of mast cell disease (ironically one that falls into an even grayer area than mast cell diseases in general...). At this point the only way to get a definitive answer is to do some invasive testing. Since treatment protocols are the same whether I have MCAS or this other form of mast cell disease, and the testing is likely to set off a reaction on its own, we have made the decision not to find out at this time. If things change and there are different treatment protocols based on the type of mast cell disease, then we will revisit whether I need this additional testing. For now, though, we are continuing to treat my mast cell disease as best as we can.

And that's why today is so important to me and my family. Because today is a day that we can celebrate hope and continue raising awareness for these rare diseases. This year's theme is RESEARCH. Without research, we have no hope. Let those words sink in for a moment. For a rare disease patient, the ONLY thing that provides any potential for answers for our conditions is research. 

When I was diagnosed by Dr. Afrin 2 years ago, he gave us a list of possible treatment options to try one at a time. Instead of being listed in order of most likely to help to least likely, they were listed in order of cost...start with the most inexpensive options and progress to the ones that cost an arm and a leg and first born child. There is currently no indication as to which treatment options will be better for specific patients...no way of knowing until something is tried whether or not it will help, make no difference, or cause anaphylaxis...I've had my share of all 3 of these results...

It can be terrifying to live with mast cell disease. Anaphylaxis is always a very real possibility and can come from known external triggers (smoke, perfumes, scented cleaners, etc.), known internal triggers (digestion, hypoglycemia, pain, etc.) or from absolutely nothing. Even when our reactions don't end up in full anaphylaxis, we still experience chronic symptoms. Mast cell diseases are systemic which means that they can and are everywhere in the body and have the potential to cause issues everywhere as well. Every day is lived trying to find the balance between keeping severe reactions at bay and not being so drugged that we're unable to do anything. 


This is why today is SO IMPORTANT for rare disease patients. I've said many times before that there's no research without funding, no funding without awareness, and no awareness if we as patients aren't willing to speak up. This is my contribution to Rare Disease Day and me doing what I can to raise awareness for mast cell diseases. This is why I share my story on this blog and why I post on Instagram. This is why I've decided to be open and share some of the messy details of living with mast cell disease. Because if I'm not willing to speak up and raise awareness, how can I expect any progress to be made?

And progress IS being made! Rare Disease Day is about more than just sharing the gory details and messy aspects of life with a rare disease to raise awareness. It's also to celebrate the huge steps that have already been taken in making progress toward better treatment options and cures. As I mentioned in December, Dr. Afrin has been doing genetic research looking at possible common mutations between MCAS patients. The first round of testing showed promising results, and he was provided funding to double the number of subjects for the study! There are multiple research projects at NIH focusing on two different forms of mast cell disease and the connection between them and other chronic illnesses that are often diagnosed along with MCAS. In October, ICD-10 codes (aka, insurance billing codes) were released for almost all forms of mast cell disease! This is HUGE because it means that treatments and medications can now be approved based on actual diagnoses instead of just symptom codes which increases the likelihood of insurance approval instead of having to fight for coverage.


This year is the 10 year anniversary of the first officially diagnosed case of MCAS. In those 10 years, a lot has changed in the mast cell community. I am incredibly thankful to be under the care of one of the top doctors in the country for mast cell diseases. I am excited to see how much progress has been made since the first case of MCAS was diagnosed, and I am hopeful that in the next 10 years, we'll be able to see countless more breakthroughs that will make a huge difference in the lives of so many mast cell patients. And I have that hope because of days like today. Even just one day a year focused on raising awareness and funding for rare disease research reminds us as rare disease patients that there ARE doctors and researchers who have dedicated their lives to save ours.

Even in the short couple of years since I have been diagnosed, I have made many friends also living with mast cell disease or another rare disease. Some are only alive today because of doctors willing to take a chance on new research. Others are desperately holding onto hope that a breakthrough will come soon as they are dealing with snowballing symptoms in uncharted territory with doctors who don't know what to do. Research is our lifeline. It's why we continue going to doctors when there are so few answers. It's why I keep traveling to MN every six months. Because we know that as we do our part to raise awareness and funding comes in, someday, one day, there will be more answers than questions. And maybe, hopefully, prayerfully a CURE!


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