Sunday, January 22, 2017

Two Years...or Ten...



It has been 2 years since I was diagnosed with Mast Cell Activation Syndrome. In some ways, I can't believe it has been 2 whole years of actually having a name for the battle raging in my body. And even though my chronic illness journey started 10 years ago, it has been these past 2 years that have made such a difference.

I talk a lot on this blog and Instagram about the desperate need for more funding and research for rare diseases. Obviously the ultimate goal for any rare disease patient is a cure, but even the small steps that have been made just in the 2 years since my diagnosis have been so important for my healthcare and the mast cell community as a whole.


Most of the time, "healthy" people don't understand the actual ramifications that a diagnosis means to a rare disease patient. It is so much more than just a few words on a page. It is validation. It is the acknowledgement that we are not crazy like so many doctors have told us. It is affirmation that yes, there is something wrong with our bodies. Far from being an unwelcomed label that will follow us for the rest of our lives, it is a long sought after answer to years of no answers.

I cried the night we got the call from Dr. Afrin's nurse with the offical diagnosis of mast cell disease...but not because I was upset or scared or worried (at least at the time =P). No, I cried that night out of thankfulness and joy and relief. Did I WANT something to be wrong? Of course not. But the reality was that we knew things were not right, and up until that point we had no explanation for why. The diagnosis put a name to the years of sickness and challenges. It was a moment where we could stop fighting for doctors to listen because we actually had proof that there was something wrong. There have been many, many nights since then that the tears I have cried HAVE been in fear and exhaustion and pain and discouragement...but the night I was diagnosed...we were thankful.

And we still are.

Having the diagnosis has made all the difference in the world in terms of treatment. I know, if you've been reading these blogs or following on Instagram you're probably thinking I'm crazy! I'm sicker than I've ever been. Yes, unfortunately that is my reality right now. But having an actual diagnosis has turned the tables completely.

When I see new doctors, I'm a medically complex rare disease patient. I'm NOT some random girl with all sorts of seemingly unrelated symptoms and odd complaints. My treatment protocols are now viewed as medically necessary for a patient with a severe systemic disease instead of being weird requests by some girl who is clearly just anxious and/or depressed. What used to be a fight just to be heard became an open line of communication, all because of 4 simple words...mast cell activation syndrome.

Doesn't mean there are all of a sudden amazing treatment options available (as we are unfortunately all too aware of...), but it means that (most of the time) doctors actually LISTEN. Still doesn't mean that every single doctor is now perfect and on board with the treatment I need, but it's no longer a fight to be heard. Having a diagnosis gives rare disease patients a platform to stand on. It gives us back our voice in a medical field that is SUPPOSED to be patient oriented. And being heard is often the most important piece of healthcare.

Rare Disease Day falls on the last day of February each year. This year's theme is RESEARCH. Without research the rare disease community crumbles. It is what keeps us going. It allows us to hope that one day there WILL be treatments and cures for mast cell disease and the other 7000 known rare diseases. It is because of Dr. Afrin's research that I have this diagnosis that has changed my life. It is because of him and others like him that those of us living with mast cell diseases are able to keep fighting what often feels like a losing battle. We can have hope that eventually, if we can hold on long enough, a breakthrough that could change our lives again will be found.

One of the reasons I began sharing my story of living with mast cell disease is because I don't want another girl and her family to have to go down the same road that we did. Eight years before a diagnosis is just unacceptable. I do wonder at times if we had known sooner, could we have kept things from getting as bad as they are...maybe, maybe not...there's no guarantees with mast cell disease, but I can't help but think that if we could have started treating the snowballing symptoms before they were as out of hand as they were, then maybe my body wouldn't be so worn down...maybe I wouldn't be as sick as I am. Obviously we'll never know the answer to that at least for me...but maybe me sharing what I went through means another girl and her family can get a diagnosis sooner...and maybe that will make all the difference in the world for them.

This certainly is not how I imagined life would look when we started down this long road of medical issues 10 years ago, but when does life ever turn out exactly as we plan? I might not get a say in what my life with mast cell disease is going to look like in the future, but I do get to choose HOW I'm going to live with it. The mast cell diagnosis changed my life and my family's life, no two ways about it. We pray and hope for research breakthroughs and medical advances that may give temporary healing in this life. We do what we can as a part of the rare disease community to raise awareness and support the doctors that sacrifice so much of their own lives for what are often thankless endeavors. We live as best we can with what we have, and remember that life can still be beautiful even in the midst of sorrow.

Just because life has changed, doesn't mean that it's all bad or that we have to give in to the despair that can be so easy to fall into if we place our focus on the things of this world. We're choosing joy, finding reasons to smile every day, and remembering that ultimately our hope is in Christ and not anything in this world.

Two years down, a lifetime to go.


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