Elizabeth’s Story

January 2022

I was diagnosed with LGMD when I was 12 years old.  I had difficulty all my life with running, going upstairs, and doing sports, but no matter how hard things were I always pushed myself. I started working at 12 years old, started babysitting. At 16 years old, I worked at a store in the mall, two daycares and cleaned buildings. I went to Douglas College after graduating at 19. I started working at Royal Bank Data Center where I met the man I married.

I got married at 22 and still was able to do everything for myself without any aids or help. I worked at Vancouver Career College as a receptionist and bought my first home.  At 25 years old, I was having a hard time breathing and walking, so I had to start using a walker when I went outside and eventually began using a bipap machine at night. At 27 years old, I was having more trouble being able to breathe and walk. I was getting a lot of aspiration pneumonia and eventually my weight dropped down to 75lbs, I couldn’t eat or breathe at the same time and had to stop working. I got divorced at 29 and went back to live with my parents. I had to get tracheotomy and go on a ventilator only 2 months before my 30th birthday in January of 2005.

I was getting off the ventilator for 3 hours a day. I started exercising by walking the stairs, walking outside/inside with my walker, cooking, do personal care on my own, and getting up from laying/sitting position on my own.

I was getting sick with pneumonia and psudomonis every year. I would go to the hospital twice a year and stay for 1 to 2 months at a time. After getting so sick multiple times a year, my muscles started declining, so I could not do all personal care, stairs, get off the ventilator, and get up on my own. I had to use a wheelchair going outside. Therefore, I came to be more dependent on a caregiver.

Last year I asked my family doctor to send me for gene testing because I was doing exercises everyday and still not improving, plus my eyelids were drooping. The results came in as Pompe Disease and DOK7.

I always keep trying, push myself, have a strong faith, and to never give up.

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