Pompe makes my muscles extremely weak that I cannot move my legs to the extent that I would need to walk, I can only swing them a little bit. Because lungs and diaphragms are muscles too, I need a ventilator to breathe. Some people only are on a ventilator a few hours a day, or at night, however, I am on the ventilator 24/7. If I become disconnected from it, I cannot even take a breath on my own, that is the main reason why I have nurses 24/7.
Why do you have a speech impediment?
Because I received my tracheostomy at such a young age, I hadn’t learned to speak normally. Due to this, my voice sounds like I am underwater. Not only that but my jaw muscles are also weak, and I can only open my mouth about 3-4 centimeters. This may seem like it is impossible to converse or understand me, but all you have to do is listen carefully and get to know me better to make conversing easy. I am always up for repeating too, plus I have a nurse who understands me too!
Does it bother you that you have eyes/ears on you constantly?
I have never in my life been out of eye/earshot of my parents or a nurse. That means I have zero privacy…ever. Most of you will probably want to shoot yourself when you read that. Honestly, because I grew up like that I am completely accustomed to it and I think that it is partly why I am so open. With that being said, I, of course, sometimes want to slam my door and scream into a pillow about various things, but I don’t. My nurses are pretty good at knowing when I am in one of my “moods” and leave me alone as much as they can. So, no it doesn’t really bother me at all that I have eyes/ears on me constantly–it actually freaks me out of the thought of being alone.
If you could not have Pompe, would you?
The answer to that is easy. Absolutely not. Most people think that’s undeniably insane. But to me, it is truly a blessing in disguise. If I did not have Pompe, I would not know anyone in my life at this moment besides my family. I would not know the amazing doctors or nurses that I have come to call family. I mean, if you think about it, I spend a minimum of 36 hours a week with each one of my nurses. They know everything you can ever imagine about me. I wouldn’t change a single thing about it. I would also never have met a lot of other people or done some of the amazing things I’ve done. Such as attending my own family’s book signing or movie premiere, met Harrison Ford, go on two Disney trips, or attend The University of Notre Dame–all amazing things!
Does anyone else in your extended family have Pompe?
Nope! Patrick and I are the only lucky ones:)
Have you met anybody else with Pompe (aside from Patrick)?
Yes! Tons of people I have connected with through Pompe. My family and I are close to several Pompe families, and I am on 2-3 Facebook Pompe pages discussing various aspects of the disease. I love meeting new Pompe people/families, it is fascinating how we are all different yet the same.
Do you want a family?
Since I was a little girl, I have always wanted to be a mother. I had a baby doll that I used to carry around and pretend that it was a real baby for almost a whole year. When I got old enough to learn that I could biologically have children, but that the process is not safe for me, I started researching surrogacy and adoption. To this day, I have my heart set on having two biological children and two adopted children.
Does Pompe affect your brain?
I’m a sophomore at Notre Dame, what do you think?
Is it contagious?
Not that we know of;)
No, it’s a recessive gene and no one can “catch” it