I am a firm believer in sharing some of my personal experiences since being diagnosed with Pompe disease. This is a rare disease that requires significantly more study to understand than other diseases. As such, sharing information and experiences within the Pompe community became a priority for me.
Pompe is a rare glycogen storage disease that causes an accumulation of glycogen in the skeletal and heart muscles of patients. The accumulation, which stems from an enzyme deficiency, results in muscle weakness and leads to premature death from respiratory or heart failure. Pompe disease is a debilitating and progressive condition that significantly inhibits mobility and breathing.
I have learned a great deal since being diagnosed with Pompe that has helped me through some tough times and how they have helped me become a more positive individual. As an individual who appreciates every day that is given to me, every smile I see, every laugh I am a part of, every cycle, surf, swim, or whatever it may be in life, I am grateful for it all.
Why? Because I know how quickly it can all be taken away.
My first rare virus, Guillain-Barre syndrome, diagnosed when I was 6 years old, caused me to have complete paralysis and I was breathing from a ventilator that was run through my neck tracheotomy. I learned very quickly how lucky we are to have movement; be it in sports, dancing, or walking your dog around the park, movement is special and should be treasured and embraced by those who have it.
Read more about Pompe disease diagnosis
In all parts of life, there are periods of adversity we must face. The real challenge, however, is what we gain from conquering those trials. I have faced adversity quite a few times and it has happened in different areas of my life at one time or another.
I truly use my body in sport as an expression of freedom and performance in specific sporting fields that challenge me to try to better myself every day, namely in surfing and off-road (Xterra) triathlons. Just before my diagnosis of Pompe disease, I went from world cross triathlon champs in Germany where I was a top competitor to all of a sudden being unable to perform the sports I loved so much, sometimes even struggling to walk.
At first, the pain and debilitation were for a day or so, then it started lasting for a few more days or even weeks. This was when I was so frightened of having Guillain barre syndrome again, I was so scared I was going to be paralyzed again.
I started going to see many specialists and doctors that all did various tests and scans on me with no accurate conclusion as to what was causing the pain in my body.
Hardships can present themselves in many forms in our lives. Whether we know it or not, people go through hardships every day. It may be financial hardships, or family hardships, or medical hardships, or any other type of hardship that may be a burden on life. But through tough times you are forced to adapt to the situation by pushing yourself and overcoming adversity. And by overcoming these obstacles, you build character.
Once diagnosed in adulthood with having Pompe disease, the doctors could not give me a clear guide as to how this disease would affect me and many urged me to stop trying to participate in sports.
I continued to perform some small form of exercise every day, whether it be walking in the pool, taking my dogs for a walk, or some simple stretching. Slowly, but surely, I was starting to gain a little more mobility and strength. This encouraged me to keep going and now I have learned through practice that Pompe significantly affects my limbs and torso area so I started to do sports like swimming, paddling, and cycling that would not stress my body too much that it would break down even further.
I started to shift my focus on doing various sporting events for rare disease non-profit organizations to help create awareness about Pompe disease and in the hope that I will reach others who were suffering just like I was for so long. This confidence grew and I have now been able to partake in events that many said would be impossible with having Pompe.
Since being diagnosed with Pompe disease, I have been focusing purely on reaching and helping others by participating in sporting events where I get to share my story with others and hopefully reach many people who may know of someone else who is suffering from some unexplainable condition or symptoms.
This column is not to tell you about Pompe disease. Although I have been talking about my life story, the lessons I have learned can help benefit everyone and anyone who has faced some form of adversity in life to help them deal with challenges.