It has been just over 5 years since Madi was diagnosed with CCHS. Initially we were overwhelmed, and just could not digest our future, but most especially her future. How will she tell friends? How will she meet “someone” ? How will she live on her own? Or what about alcohol (alcohol and central apneas don’t mix)? And then we took a step back. In order for Madi to get to ANY of those hurdles, we needed to survive today, next week, and this year.
Living with a child who has a rare disease often feels like a marathon (sometimes an ultra) where you show up to the starting line not realizing that you were going to run that day, and having had no preparation. This probably sounds negative, but it really isn’t. It’s about the lack of preparation- what we choose to do during the race is up to us.
After we picked ourselves up, we chose advocacy, awareness and optimism. I could fill every second of every day with worry about how Madi will do in every aspect of her life; instead we try to live in the present, and enjoy the water stations when we get to them.
Tomorrow will be my second running race, ever. Last weekend I ran a 5k and this weekend I will be tackling a half marathon. My coach has set me up with a race plan with the goal of taking it relatively easy, and focusing on how to manage a race- just the issues of what to eat beforehand, what to do for warmups, when to find the nearest porta-potty. I’m mildly nervous about it- mostly that I am going to be too flooded with adrenaline and run too fast…
What has been really cool though, has been talking with my patient partner about our day to day plans– she asked that I wear something purple to raise awareness for MPS I. I am incredibly excited and honored to do this. So tomorrow, my outer-most layer (we are going to be a chilly 25 degrees here in Birmingham, AL!) will be a dark purple jacket- so every time I look down, I will know that I have someone else that I am running with 🙂
So, back to my awesome and amazing patient partner. I feel like when I introduce her, it will be focused on what a rare mom sees and is inspired by, because she encompasses so much of what I hope Madi will become.
Erica was diagnosed with MPS I in her 20s after managing medical issues throughout her life. She has tackled the ups and downs of this diagnosis head on, lives independently, and is an active advocate in the Rare Disease Community. She is close with her family and God, and I absolutely love her attitude about having a life which often revolves around managing the medical side of her condition (I knew we were going to be great friends when she complained about how hospital rooms are “cleaned” on a daily basis!!)
It is so amazingly awesome (descriptive words are hard to come by that truly explain this) to speak with an adult who has a rare disease, which is medically involved, but leads a positive and regular life. It is exactly what I think most of us hope for for our children, but to hear perspective from someone else is just really really awesome.
As she continues to recover from her most recent surgery, I will continue to plug along on miles, and hopefully we will both enjoy our conversations along the way 🙂