Glycogen storage disease type II AKA Pompe Disease

My name is Alex, I am a 25 year old outgoing, smile wearing, cupcake baking, loud talking, latte sipping, lipstick loving Haligonian.  Throughout high school and university I dedicated a lot of my time to Power Cheerleading and coaching with Extreme Athletics.  As time went on it became pretty clear that there was something seriously wrong with the muscles that controlled my core strength and allowed me to lift my legs.  Because of this, competitive cheerleading played a large part in my investigation towards a diagnosis.  I noticed I was becoming increasingly incapable of doing the things my teammates were able to do with ease and thus started my life long relationship with a very large team of doctors. 


Today I get poked and prodded at least once every two weeks, sit through a several hour infusion, have breathing tests, muscle tests, dietary restrictions, a genetics team… and this list could go on for a while.  Living with Pompe is something I am still trying to navigate in my everyday life.  It comes with its own specific challenges, requirements, and hardships.  It is a little daunting to have a disease that no one can tell you the long term outcome.  It is sort of like reading one of those choose your own adventure books but it is not really your choice and a few of the outcomes are darn scary.  For the most part the way that the disease presents itself, in my case, does not limit me too much right now.  I can still participate in most activities that my peers do, like go for coffee with my roomie/bff Sarah Berry, drink a little too much at university parties, and dance into the wee hours of the morning… I just have to be a little more mindful about how I go about it (see the spoon theory for more details).  Though I certainly won’t be walking up the Eiffel tower, running any marathons or participating in a sit up challenge anytime soon. 

When I was first diagnosed it was something that I was extremely hesitant to talk about.  It was a subject I avoided at almost any cost.  I want to thank Sickboy for creating a platform that strives to normalize illness and all the crazy things that can come along with it!