In my youth I lived to the fullest and although I couldn’t run as fast or jump like everyone else I never felt left out. I had incredible support from family and friends. I lived a pretty normal childhood and teenage life despite my challenges. I played sports with my friends, went on bike rides everywhere in the summer; sometimes we’d be gone from morning till night riding through trails and enjoying everything that nature had to offer. As a teenager I drove a car and had jobs while attending high school. Pompe took a turn for me at the age of 19 when I caught pneumonia. I had already been using a manual wheelchair for long distances for just over a year and was on a bi-pap machine at night which helped the headaches in the morning. I remember, I walked into the hospital in October and left the hospital in December trached and in a wheelchair permanently. It was a hard but easy transition as I knew my fate from a young age.
It was in my hospital stay that I first heard of a treatment being developed for Pompe disease. At the age of 26 I started receiving the treatment for Pompe under compassionate use. Without this treatment at that time I would not be sharing this story with you as I was on my way out of this world. I am very thankful.
Since treatment I have been able to attend university and watch my niece and nephew not only be born but grow up. I have met some amazing people through the wonderful world of rare diseases. Unfortunately, I’ve also lost some of those amazing individuals. But, without treatment I would have never gotten the chance to meet them.
Signs & Symptoms
I do not remember my original signs as I was only 3 years of age when diagnosed. My mother described it as frog legs and not meeting physical markers, like sitting up, holding my head and of course walking. I did the bum shuffle till I was 3 years old. My later symptoms of progression were difficulty going up stairs, not being able to yell very loud and headaches in the morning after waking up.
Symptoms started at 1
Diagnosed at 3
“We all have our challenges in life and we will all have bad days but it’s how we face those challenges that make us who we are. As I like to say, any day above ground is a good day indeed.”