January 2022
My name is Geneviève, and I am 42 years old. I was diagnosed with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. More 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 diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. More.
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.
