Why I Live Everyday Like It’s My Last…

I have a rare disease. It’s just a part of who I am. It’s not simple, it can be quite the opposite.

In the Fall of 2013, there was so much going on in my world. I had just finished training for my current job. I had finished my degree that Spring. Life was in transition. We had just found out my mom had inherited a rare genetic disease called Fabry’s and there was a lot going on with that. I got tested in September of 2013. The genetic specialist really didn’t think I was going to test positive based on what he saw. I had high hopes that I was going to coast by this thing and only have to passively deal with it as a thing in my family. We knew the disease had lots of potentially scary things attached to it. Things like heart disease, kidney failure, higher stroke risk, etc. Then came the day in October that the results were in and Shodair Hospital called me to say, “Your test came back positive, you have Fabry’s…”

Funny thing, I can tell you exactly where I was sitting when I took that call. I think I even know what I was wearing. Even funnier, I don’t remember my reaction. I don’t remember if I cried or sat there in shock or what. It is like I blacked that moment out except for mundane details like location and the outfit I was wearing.

To give a high-level overview, Fabry’s is an X chromosome linked genetic disease. Mothers have a 50% chance of spreading it to their kiddos, regardless of whether they are male or female. Fathers will pass it on to 100% of daughters, but fathers cannot pass it along to their sons. That’s all genetics. We all have all these enzymes in our bodies that keep us functioning. Most of them break down basic body wastes to make them easier to transport out of the body. Having Fabry’s means that I don’t produce enough of a certain enzyme. The waste products that don’t get broken down by this particular enzyme build up in the heart, the brain, and the kidneys, among other places. Unfortunately, this build up can cause the death of the tissues and muscle that make up those organs. When that happens, heart attack, stroke, and kidney failure are all very real possibilities.

That said, a lot of things changed for me on that day in 2013. First, I get to have a million tests every year to make sure I am healthy and that nothing is wrong with me. I also get to live in hyperbole because when I say, “a million tests”, it is really about 10. But hey, it’s a lot more than I ever had to have before. There is a treatment available via IV infusions that needs to be done every couple of weeks. I am not currently being treated, but rather keeping an eye on baseline tests and ensuring that I am not seeing any changes that are alarming. We call it watchful waiting. This is a personal choice, and I know some people don’t understand why I’ve chosen to hold off on treatment, but it is 100% my choice and only for me to understand. At the end of the day, I am still healthy and none of my baseline tests have shown any reason to be alarmed. The second that we see changes, I will have to reconsider my current stance. Honestly, I am never sure that I am making the right choice, but know that I didn’t arrive on foregoing treatment lightly.

This post is not about sympathy, at all. In reality, some really great things have come from this diagnosis. I try hard to take care of myself, mentally and physically. I work out regularly because it helps me physically, but more than that it helps me to sleep well and relieves stress in a way I can’t get anywhere else. I prioritize my relationships with people and go out of my way to spend time with the people that are important in my life. I think this is because, if anything, I have learned that you never know what could happen tomorrow, so take care of those who take care of you. I try not to miss out on opportunities to do the things I want to do. I am a big proponent of taking the trip you want to take, seeing things you want to see, and taking care of yourself when you need to. As I write this, I am in my pajamas, that I’ve been in all day (well, after I worked out this morning). Why? Because I’m tired today. I need downtime, so I am taking it.

Lessons I have learned from all of this:
1. Life can be short, so don’t take it for granted.
2. Control the controllable. I can’t control the fact that this happened. I can control how I handle it and make sure I take care of myself.
3. Be good to the people you love. You never know when something crazy might happen and you might need a shoulder to lean on.
4. Find a way to do the things you want to do while you can enjoy them. Go to Europe, learn to surf, take on CrossFit at 33. 😊
5. Don’t hold grudges. Ever. Resolve your issues with people and move on and keep loving them.

I hope all of you reading this have a wonderful Easter weekend full of family and fun. I appreciate you taking the time to read my ramblings!