Signs & Symptoms
I was diagnosed with LGMD when I was 12 years old. Had difficulty all my life with running, going upstairs and doing sports. But, no matter how hard things were I always pushed myself. At 25 years old, I was finding it hard to breathe and walk. I needed to use a walker when I went outside and a bipap machine at night. At 27 years old I was having more trouble breathing and walking. I was getting a lot of aspiration pneumonia, and got down to 75lbs. I couldn’t eat or breathe at the same time and had to stop working. I had to get trached/vented 2 months before my 30th birthday on January 2005.
After getting so sick with pneumonia and pseudomonis, twice a year, my muscles started declining. Unfortunately, I would go to the hospital for 1 to 2 months every time. I couldn’t do all personal care, climb stairs, get off the ventilator, or get up on my own. I became more dependent on a caregiver.
Last year I asked my family doctor to send me for gene testing cuz I was doing exercises everyday and I was getting results, plus my eyelids were drooping. The results came in as Pompe Disease and DOK7.
Symptoms started at an early age
Diagnosed at 45
I started babysitting at 12 years old. At 16 years old I worked at a store in the mall, two daycares and cleaned bulidings. I went to Douglas College after graduating at 19. Started working at Royal Bank Data Center where, at 22, I met the man I married. At that time, I was able to do everything for myself without any aids or help.
My health worsened at 29. I moved back with my parents, and had to get trached/vented a short time later, in Jan 2005. I was getting off the ventilator 3 hours a day though, climbing stairs and walking outside/inside with the walker. I was cooking, managing personal care on my own, and able to get up from laying/sitting position on my own too.
“I always keep trying, push myself, have a strong faith and never give up.”