Annette’s Story

by | Sep 6, 2015

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.

Sebey familyI 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