By Tiffany House
I was diagnosed with Pompe disease when I was 11. It shocks me sometimes when I think about the fact that I have known I had Pompe disease for over 20 years now (I’m 32). The “before Pompe” part of my life will always be 11 years, but the “after Pompe” part is going to continue to grow – hopefully for a really long time. 😉
When I was diagnosed it was 1995. I was still able to walk, and honestly didn’t really realize there was anything all that wrong. From my perspective I was just a klutzy bookworm that was bad at sports. The year after my diagnosis was a big change – I hit puberty shortly after I was diagnosed and my symptoms rapidly progressed. By the time I was 16 I hardly left the house, was in a wheelchair, had severe breathing problems and scoliosis. I was very fortunate to be in the first enzyme replacement therapy (ERT) trial in the Netherlands – without a doubt in my mind it saved my life.
It also gave me back my life. To get a little introspective, when I left the US to participate in the trial I was a child. I was 16, but I was a child. I had become very shy and had lost touch with all of my school friends. With the exception of a few very close family friends and my family (both immediate and extended), I really didn’t interact with people that much. At that time I was still trying to cling to being “normal” – I didn’t want to be seen with my BIPAP on by anyone but my parents and siblings, I didn’t want to use a wheelchair. Instead, I chose to stay at home or really only go places where I didn’t have to walk more than 50 feet or so (and that with a lot of help).
When we went to the Netherlands my parents brought a wheelchair for me to use without telling me. They knew that I would be in situations where not going far distances just wasn’t going to be an option. It was like a whole new world opened up for me. My brother and sister took turns running up and down hallways with me and we had fun. Don’t get me wrong, physically I was really sick and weak and couldn’t do much, but the possibilities were so much broader!
Cozumel, Mexico in 2012 – an experience I wouldn’t have had without a wheelchair