My name is Geneviève, and I am 42 years old. I was diagnosed with Pompe disease at the age of 40. Here is my story.
In my early thirties, I was skiing a lot with my 9-year-old daughter at that time. It was during this activity that my daughter pointed out to me that I was using my hands to mount my ski on the bar in the ski lifts. I hadn’t even noticed before. From there, I started asking myself questions. In the years that followed, I noticed that I had difficulty running, raising my legs to cross them, getting up from a sitting position. I am unable to get up from a squatting position and above all, what bothers me the most, to climb stairs.
I decided to see my family doctor when I was 40. Having always had high CK, ALT, AST and with these muscular weaknesses, my doctor was alarmed and referred me to a neuromuscular doctor who, after a battery of tests including a muscle biopsy, made the diagnosis of Pompe disease.
It was a very big shock for me. In addition, my brother with the same symptoms was also diagnosed with this disease. I was extremely afraid of my future. I’ve been off work for over a year now and I’m in psychotherapy to help me come to terms with all of this.
It’s been a year since I received Myozyme at home with the help of a nurse with whom I became friends. I try to stay positive and above all I take care of myself.