Signs & Symptoms
My symptoms began so slowly that I didn’t think too much about them. I was a young mom of 4 incredible children and worked part time. I was very involved with my kid’s school and activities. So when it got harder to exercise and I was slower going up the stairs. I blamed it on being overtired and then later blamed it on being out of shape. In my 40’s things got harder and I began to fall randomly. Climbing stairs became very difficult and I didn’t understand it. I went to the doctor in November of 2016 and he sent me to physiotherapy. My physiotherapist was excellent and this is where I found out something more was going on. He wrote back to my doctor and explained that based on his expertise he felt more testing was warranted. My doctor was quick to arrange testing. Once they ruled out some more common issues I had a muscle biopsy and then a final blood spot test.
July 10 2017 I was diagnosed with Pompe disease. I will always remember that day. It was terrifying. My #1 fear was how this would affect my children. What did it mean for my future? I didn’t want to be a burden on anyone and I felt like my plans had to be put on hold. I was fortunate to be referred to Dr. Tarnopolsky, a leader in Pompe research and treatment here in Canada. Talking with him and his unbelievable team gave me the information I needed to help me through this tough time. They also helped me get on a clinical trial. And I am happy to say that I have seen some definite improvement.
Being diagnosed with an illness like Pompe disease is an emotional roller coaster. It is definitely a process that you need to work through. I am fortunate to have an incredible support system in place from my husband who came to almost every treatment the first year, to my amazing children, family, friends and Dr Tarnopolsky’s team. My employer has also been very supportive. As an account executive in the beauty industry they allow me to work remotely from the hospital every other Wednesday.
What I have learned in the almost 3 years with Pompe disease is that you can’t stop living your life. I make a point to get out there and do as many things as I can. I work at it every day to reduce the impact on my life. I dance every chance I get, take my yoga and aqua fit classes and have an active social life spending time with my friends and family. I even tried cross country skiing for the first time recently. I get self conscious at times because I do things a little differently than others but I try really hard to put that aside and move forward. I try to appreciate every day. Yes sometimes I do feel a little sorry for myself but that’s okay because in the next breath I try to think of how blessed I am with all that I do have.
Symptoms started at 30
Diagnosed at 48
“Everyone we meet has something that they are dealing with in this world. Pompe disease is mine and I will make the most of it and hopefully the clinical trail I am on will make it better for those who come after me!”