Since the age of 19 in 2006, I had been training hard to follow my passion to become a professional athlete. I was racing at a top level when I started experiencing occasional episodes of extreme muscle pain, which sometimes prevented me from completing a race. These strange episodes became more frequent and so did my visits to various doctors and specialists, who performed a barrage of tests to no avail in finding the cause of my symptoms.
Pompe disease, also known as acid maltase deficiency or glycogen storage disease type 2, is characterized by a deficiency or absence of the lysosomal acid alpha-glucosidase enzyme (GAA). It is estimated that 1 in 40,000 may inherit the rare mutation from birth. It is inherited in an autosomal recessive genetic pattern, which implies that healthy parents can have affected children. There are 2 types of Pompe, infantile and adult onset of the disease. Pompe is associated with skeletal muscle weakness causing mobility problems and affecting the respiratory system.
When I was 6 years old, I was diagnosed with a very rare virus called Guillain-Barré syndrome (GBS). It made me completely paralyzed and required an emergency tracheotomy. I was connected to a ventilator, which did the breathing for me. Days felt like they would never end. My parents spent many hours by my side reading to me and trying to make me comfortable.
The doctors said I may never be able to walk again or have a fully functioning brain. After some time, I was able to begin moving my arms and legs that were suspended in the air by a pulley system.
After 3 months of being in the same room, I was finally allowed out of the hospital. And while I was still in a wheelchair, I was so happy to see my friends back at school. I slowly started learning how to crawl again, and eventually made a full recovery after 8 months.
In my young adulthood, I went from one specialist to another after x-rays, MRI scans, many blood tests, and muscle biopsies. The doctors would always lean toward overtraining or DOMS (delayed onset of muscle soreness) as impediments to my progress. Having a degree in sports science and following a very specific training regime, I knew this was not the case. Many doctors were puzzled and could not find any reason for my severe muscle trauma and hugely elevated creatine kinase (CK), liver enzyme levels, and inflammation markers.
My symptoms started to become more frequent and severe with every episode. At times my muscles were in so much pain, I struggled to walk or even get out of bed. My breathing started to become hampered as my lungs and heart muscles weakened.
Read more about Pompe disease symptoms
Everyone kept on asking me questions and performing testing relating to my previous virus of GBS. I kept on mentioning that I have no paralysis, just extreme pain. It felt as if my muscles were tearing themselves apart, like my body was in a constant cramp (spasm) without any muscles actually contracting and getting hard.
In 2015, I went from doing a few activities to struggling to walk.
I was a school teacher and my classroom was upstairs. I hit rock bottom the day I tried to climb the stairs to get to my class and I couldn’t, I was in such excruciating pain that I couldn’t lift my leg to take a step up. It was extremely embarrassing as I was once a fit role model for the kids and now I couldn’t make it up a flight of stairs.
I was fortunate to have a child in my class whose dad was a doctor (endocrinologist) and he immediately admitted me into hospital and started doing more specific blood tests. After a few weeks of testing, he found a genetic mutation and managed to diagnose me with the extremely rare genetic disease called Pompe disease.
While going through college and university into my early adulthood, I could slowly start noting comparative differences between myself and other people around me. This was especially true when it came to recovery rates. I would compete or perform the same exercise that some of my friends were doing and the very next day they would be able to exercise again, whereas I struggled with muscle pain and did not feel I could go do anything the next day.
Body composition is also a sign to evaluate. From doing many sports, my upper body would develop a little bit of muscle but my lower limbs would stay thin and lacked muscle mass and definition.
Extreme dry eyes also caused by Pompe disease can be a key symptom to be noted. I always complained about dry eyes and constantly had to put eye drops in throughout the day without any alleviation of uncomfortable feeling. It even caused a pterygium to form in my eyes and since I had to get the one eye scraped to remove it.
Every time I went to doctors, I believe they were taking one look at me which showed I was a fit individual who participates in many sports and drawing a conclusion without acknowledging my symptoms. I complained of muscle breakdown, extreme muscular pain, and weakness in the limbs. The tension would eventually subside to allow me to walk but with a great deal of pain.
No amount of painkillers would even help to alleviate the pain, they would just cause me to become drowsy and have to sleep.