Annette’s Story
I am a 48-year-old mother of two and resident of Perth-Andover, New Brunswick. I am one of 40 Canadians diagnosed with Pompe Disease, a rare enzyme deficiency that has left me with a progressive and often fatal neuromuscular disease.
Until just over a decade ago, I was living the dream of any person, married with two beautiful healthy children, a girl and a boy. What more could a mother ask for? Everything seemed to be normal following the birth of our first child. However, following the arrival of my second child, things began to go downhill rapidly.
I could virtually fall asleep anywhere. We changed a few things, but really nothing helped. I just concluded that this was the way it was supposed to be after having two children. I couldn’t ride a bike with the family anymore. We would go for a walk instead but I couldn’t go very far before I was out of breath.
Still, I continued to blame it on the demands of a mother of two busy children, and on myself for not getting enough exercise. It was evident to myself and my family that I simply could no longer do what I LOVED doing, such as going on field trips with my children’s classes.
I was finally diagnosed with Pompe Disease in 2004, the only person in the province with this very rare genetic disease.
As of October 1, 2014 I received my 1st treatment of Myozyme in my province of New Brunswick. I have noticed improvement in different things. I don’t take naps everyday. I seem to have more energy. My Pulmonary Function Test has improved since last year. People say I look healthier, happier and seem to get around better.
I am so very Thankful for receiving this life saving treatment of Myozyme in my own Province of New Brunswick. I have had SO much support and help from family and friends far and near, especially my Pompe Family.
Annette Sebey