I have been in many situations in my short life that many would never get to experience even one of these traumatic events in their entire lifetime. I have learned a great deal about how to appreciate everything we have the ability to do, control, and engage in. Most importantly, I have learned to engage and make an attempt to participate in anything that may be a new experience for me.
After 10 years of searching, fighting, testing, and many hours in hospitals, I was finally diagnosed with late-onset Pompe disease. It is an extremely rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and respiratory insufficiency. It is a mutated gene that causes the body to be unable to produce the enzyme that is critical in breaking down glycogen in the body.
From a young age, I survived a rare virus known as Guillain-Barré syndrome, which caused me to become completely paralyzed. I could not open my eyes, let alone breathe for myself. So, I had a tracheostomy performed on my neck where a small hole is created to place a pipe into my windpipe, and then I was attached to a ventilator that breathed for me.
Upon getting my feeling back, as well as being able to open my eyes, I still could not move or speak. I could not even let the nurses know when there was a mosquito biting me. After months of being wheelchair-bound, I started being able to move and learned to crawl again with my youngest brother. I then started being able to swim again, I learned to swim before I was able to run or ride a bike again.
Read about the diagnosis of Pompe disease
At the time, I did not realize it, but this was a massively traumatic experience for me, and from what I have learned about trauma, the effects on you can be everlasting. The trauma I experience from this still affects me every 2 weeks when I have to have my infusion therapy. I am absolutely terrified of needles, and I really have to focus on remaining still, and I cannot look even when the nurse brings the needle out to cannulate my vein for the IV drip.
This trauma stems from when I was younger, the nurses thought that I could not feel anything, so they were quite rough with giving me injections, and I could not look away or tell them that I can feel everything. I get extremely anxious before an infusion and sometimes have nightmares just dreading the needle.
I am by no means an expert on trauma or genetic science. However, I am convinced this trauma I experienced as a child has contributed to having late-onset Pompe disease. My genetic mutation expressed much differently from other mutations that doctors have seen before, and I do know that our genetic codes are wired differently, but this was very unique and interesting to the specialists.
I do feel that I have perhaps gone to the next extreme in dealing with my trauma and experiences that have affected me since I was younger, but it has helped me improve from a place where I could not walk or function fully. And doctors at that time said I would not ever develop any further.
I still fear not being able to move or perhaps becoming wheelchair-bound again. So I aim to ensure that I perform some small form of exercise every day. Generally, I cycle or swim as it is far less strenuous on the body than running or weight training. I slowly started with walking in a swimming pool, then progressed to swimming, and over time I was able to strengthen my body, even if it is far slower than everyone else. The main point is that I am improving each day, one small step at a time.
I am very proud to say that today I have the confidence to participate in some extreme endurance swim events like the Bell Buoy 5km Challenge, which is Africa’s toughest Indian Ocean Open Water swim race. I challenge each and every person out there, rare disease or not, to strive to do something that challenges you, that is unique to themselves. It is your job and yours alone to conquer.