Without the support of my incredible family and friends, I am not sure if I would have made it through all the years of rigorous medical testing procedures. There were many times when the doctors and I would hit a brick wall; they could not determine what was the next step in trying to obtain a diagnosis.

There was even an occasion when a doctor told me that the pain and muscle debilitation I was experiencing is caused by my psychological state. In effect, he was saying my symptoms were made up in my head.  

After 10 years of struggle, I was finally diagnosed with an extremely rare genetic disease called Pompe disease. This disease is caused by a mutation in the gene encoding acid alpha-glucosidase (GAA), which is essential for the breakdown of glycogen. If the GAA enzyme does not function properly, glucogen accumulates inside cells causing damage and muscle weakness. This weakness is not isolated just to skeletal muscle but also to the surrounding muscle that lines major organs.

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My incredible wife, Tracey Campbell, was instrumental in pushing me to go and see various new specialists from all over the country. We would go through a round of medical testing that included costly tests, such as skin and muscle biopsies, MRI and ultrasound scans, along with many blood tests. Eventually, the doctor would refer me to another doctor as he could not find the root cause. 

After the emotional and physical trauma of doing some of these procedures, and having no specific outcome, I was ready to give up and just accept the symptoms as a disability I would have to live with. 

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I had a small group of friends, along with my wife, who kept on reaching out to their friends who were medical physicians to assist me in finding a path to diagnosis or to help with interpreting my medical test results. Perhaps they would find something different that others had missed. 

In 2015, I was trying to continue life as normal as I could. I was about to head to another city to try to compete in a national championship off-road triathlon event when a doctor friend of ours, an anesthetist, called to have a quick coffee before I left. 

Once I sat down with him, he immediately asked me what my plans are for the rest of the week. I mentioned we were just about to leave the city but he said I should cancel all plans as he is taking me directly to the hospital. He said that my creatine kinase enzyme levels were so extremely high that he was not sure how I was still standing and functioning.

This was the first sign of severity I had gotten from anyone and I followed him to the hospital where I was in and out for the next few months before I got a clear and precise diagnosis of having Pompe disease. 

Now that I am diagnosed and have been on the life-changing enzyme replacement therapy treatment for the past 5 years. I often speak a lot to others about my rare disease, in hope of perhaps finding someone else out there who may be struggling with some unknown condition or symptoms. I know that if I can find them, then I can assist them in finding the right rare disease advocates to help get them to the bottom of their symptoms.

I believe it is important to share with others what I went through in trying to find a diagnosis for my condition. There are many others out there struggling with some unknown symptoms. The more I have spoken about my rare condition, the more others recall it when they chat to their friends or family members who are struggling through something unexplainable. 

When you look at most individuals with a rare condition, there may not be anything externally visible that would suggest that they are walking around daily in absolute agony and pain throughout their entire body. 

Since I have been vocal about my condition and trying to be an advocate for the rare disease community, I have had many people from all over the world contact me via social media avenues. They have all had questions or concerns that I have sometimes been able to provide a bit of clarity to and perhaps help them in some small way. 

Helping just a single individual has been my goal in sharing my story with others and the response that I have gotten from adults and kids with Pompe disease has been incredible.