Every day, week, month, or year I am forever learning about other individuals’ struggles, triumphs, and chronic life alternating circumstances that have shifted their life into a completely different trajectory than they believed or wanted to head in.

I feel everyone has their own challenges and have developed different ways to cope with them. By trying to reach out and be open about my Pompe disease, I have had many others open up to me about struggles they are going through or trying to manage. Together in discussing these challenges, I have learned a few things from others that have helped me with my disease. 

I have been living and fighting for a higher quality of life after being diagnosed with my rare disease over a decade ago. Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

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I have late-onset Pompe. Most patients experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

These are some of the prognoses that the doctors were telling me when I was first diagnosed and all studies and articles confirmed how the body slowly starts to weaken. 

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I started off reaching out to other Pompe community groups and asked if they could share their experiences and timelines of how the progression of the disease affected them. 

This was the first time I started hearing a few positive stories rather than the current prognosis of impending deterioration and inability to breathe on my own in the future. These stories not only led me to start asking my doctors new, different questions but also experimenting to discover if changing my diet or specific exercises would help slow the digression of my body. 

There was one Pompe warrior I spoke to from Europe who was diagnosed from an early age and he started with enzyme replacement therapy as soon as he was 18 years old. He told me that I should not take this disease as a life sentence as he has been living what most would consider a fairly normal life. 

He loved running and completed many marathons and trail running adventures. He mentioned that the doctors warned him of doing such long-distance races but he did a lot of training and experimenting with his diet and started with smaller running events. Then slowly worked his way up from 5km events to eventually being able to complete 42.2km marathons and, more recently, an ultramarathon of 65km.

My own journey I have been told I should not participate in endurance events and push my body out of its comfort zone. If I had listened to what the doctors said I would never have experienced events that have impacted my life in such a positive way. The Cape Epic is considered the world’s toughest 8-day mountain bike stage race, known as the Tour de France of mountain biking.

By participating in this event I managed to reach out to others with rare diseases, showing them to never give up the fight, that your body is amazing and it can handle so much more than what we give it credit. Yes, I may have to walk a marathon because my disease pain has gotten the better of me and it’s too painful to run, but giving people hope and showing them life can go on makes it all worth it. 

This disease is not a death sentence. Yes, it sucks, and why did it pick me out of so many people in the world? The number of people I have inspired and helped shows me that I have a bigger purpose in life. So, I hope if there’s anything you get out of reading this, it’s that you don’t give up. Don’t let your disease define you, don’t let it take away the joy of living and doing what you love. 

I have learned so much about my body and exercise while living with this disease, that I not only can help others with a rare disease but also those who don’t. Expect more from your body and mind, and you will be surprised at how far you can go with a disease that is expected to limit you.