Thursday, March 3, 2016

It's Not Good-Bye, It's See You Later...But It Shouldn't Have To Be

One of the toughest things about dealing with a rare disease is that sometimes the happy endings we hope and pray for just don't happen. I do my best to be honest about what life looks like while dealing with a chronic illness, but sometimes there's nothing that you can say or do to prepare...

A friend of mine just lost her battle with a form of mitochondrial disease. She was 24 and was "officially" diagnosed in 2013. She loved horses and riding and was the kind of person who always had something encouraging to say no matter what she was dealing with in her life. She had a faith that I always admired and was mature beyond her years.

My heart breaks for so many living with these rare diseases that have so few answers. Please say a prayer for her family as they begin to live life without her and peace knowing that she is fully healed and in the presence of Jesus.

Our symptoms started around the same time, and we have had many similar procedures and experiences. I actually emailed her multiple times when I had a new procedure coming up to see what her experience had been. No family should have to be going through what her family is dealing with today and in the weeks, months, and years to come. 

It seems cruel that she is gone less than 48 hours after Rare Disease Day. No one was a bigger advocate for mitochondrial diseases and dysautonomia than she was. She made such a difference in the rare disease community to raise awareness for so many living with these chronic illnesses. But awareness can only go so far. Without taking the next step, THIS IS THE REALITY for so many families impacted by these rare diseases.

Please, take a few minutes and remember those of us who are living with our own rare diseases. While my mast cell disease may not have the same prognosis that her mitochondrial disease did, that does not make it any less in need of treatment options and ultimately a CURE. Just because a disease isn't terminal doesn't mean life with it is easy or without its own pain. I've seen the helplessness on my family's face and heard the desperation in their voices as we hunt for answers that may or may not be there. It is such a helpless position to be in to have doctors giving no answers, seeing so many people suffering from these rare diseases in so many ways, and being able to do so little to make a difference.

As I've mentioned, I am a part of the Running for Rare team that raises awareness for rare diseases and funding for the Undiagnosed Diseases Program at NIH. This program is a last resort for many rare disease patients that seem to collect doctors like some people collect coins. The funding that goes toward this program leads to a better understanding of the mechanisms behind these rare diseases and eventually treatments, and in some cases, even cures. I am currently in the process of applying to this program despite having a mast cell diagnosis as I continue to have odd symptoms that my specialists do not understand. I can't do much, but I can speak out...for my friend and so many with similar stories, for all those living with rare diseases that have no cure, for my family.

We cannot do this alone! Please consider supporting my friend, me, my R4R teammate, Sarah, as she trains for the Boston Marathon on April 18, and the entire rare disease community. We need awareness, we need funding, we need treatments, we need CURES. 

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