International Pompe Association

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

More than the physical broadening of my horizons, my mind was opened to a major positive aspect of being in a wheelchair – physical freedom. The situation made things easier – I was somewhere new where no one knew me, so I didn’t feel like I had any images to live up to. I could be a new me – a me in a wheelchair.

Going home over a year later a wheelchair was a part of me. I had seen how much better it made my life, and honestly there was no going back. After scoliosis surgery I was no longer able to walk at all – or even stand unassisted. But even though I lost the ability to walk, I had gained the ability to live. Both because I felt better as a result of ERT and because I could get around using wheelchair.

It was hard at first coming home and seeing people that knew the “old” me – the pre-wheelchair me. But my true friends, and my family, made it so easy. The wheelchair gave them the real me back – I started going to college, I made new friends, and had so many experiences I never would have had if I didn’t have my chair to get around.

Celebrating the end of Law School with a truly special group of friends – who all support and accept me for me.

And you know, it’s not just those of us with Pompe who have this struggle. I think we can all think of someone in our lives (maybe an elderly relative) that struggles with mobility but doesn’t want to use a wheelchair (or sometimes even a walker or cane) because they don’t want to be different. And what I have realized is that people come to acceptance and peace with the changes in their bodies in different ways and in different periods of time. It is easy to look back after going through the struggle and want to give advice or suggestions or sometimes just tell people what they should do. But what I realized is that going through the process is something that people have to do for themselves. We can be there to offer support, or share our experiences, but everyone has to go through the process. In a lot of ways I guess it is like grieving for a lost loved one isn’t it?

And the wheelchair is just one example really. It is a tangible, visible, sign of change, but we go through many internally changes as well. Sometimes fear stands in our ways – and it takes a good friend or family member to give us the push we need to get out of our own way.

For me, one of those moments came when my sister had her first baby, my niece Alyssa (or Lissy). She is now 8, but when she was born I was afraid to hold her. I didn’t think I was strong enough. I never said anything to my sister (Andrea), or my mom, or really anyone. But one day I was at my sister’s house with her and my best friend (Annie) and they got up to do something and Annie said “Here” and handed me Alyssa. Of course she made sure I had her, and then we got a pillow to make it easier for me – but she pushed me out of my fear and I am so grateful for that – even though I don’t know if I ever told her. Because she pushed me past my fear I have held so many babies that mean the world to me – my niece and nephew, and my honorary nieces and nephews.

Holding Hattie (Annie’s daughter) right after she was born

Being an Aunt is one of the best experiences of my life. Ask any of my friends and they will tell you Alyssa and Ray (Ray Ray to family) are all I talk about. As they have grown, they and I have grown. As babies I wasn’t able to hold them too long, or change their diapers (not that I am complaining about that one! ;-) ), but I would tickle their tummies and talk to them. As toddlers I couldn’t hold them as well because when they wanted down they were going to get down and frankly they were stronger than me! But we found ways to play that were special for us – the Tickle Game was their favorite. I would make a “Monster hand” and if they got too close to me (in my wheelchair) they would get tickled. So they would run back and forth and let me tickle them. They loved it and I loved it because they did. My friend’s kids all got in on the action too. To them, Aunt Tiffy has always been in a wheelchair, and at 8 Alyssa is starting to ask questions about why (which I always answer as honestly as I can). But they also know that Aunt Tiffy is going to show up to their school events, and games, and birthdays, and go to the movies with then, discipline them when they are naughty (which they are sometimes), and love them.

Ray getting a lift at our cousin’s wedding in 2013

Maybe we watch movies instead of playing tag, and play with Legos at the table instead of on the floor, or do art projects instead of roughhouse, but I choose to believe it is more important what we can do than what we can’t. And since they have begged to have a sleepover almost every weekend this summer, I guess they agree. ;-)

Alyssa (8) enjoing a cupcake during a sleepover with me this summer

I guess to conclude what has become a long and rambling piece about my experiences; I want to say that I know that’s what these are – my experiences. And like I said earlier I think every person (Pompe, healthy, or in-between!) has to come to terms with the changes in their lives in their own time and in their own way. This was just my way. And I wouldn’t change it.

Painting with Alyssa (the train was for Ray)

I am the official photographer in these pics - not swimming but still part of the action.