At 26 years old, I was diagnosed with having an extremely rare genetic disease, Pompe disease. This is a disease not many know people much about. Even the very intelligent physicians we rely on to assist us in understanding medical conditions could not fully explain to me what would happen to me as the disease progresses.
Pompe disease, a rare inherited disease that causes an abnormal buildup of glycogen in the body. In my case, having adult-onset Pompe disease, I was told that I will have progressively worsening limb-girdle myopathy and respiratory muscle weakness.
Throughout my life, I have always had this deep love for physical exercise and movement. This stems from being completely paralyzed when I was 6 years old from Guillian Barre Syndrome, which caused my own immune system to attack my nervous system.
Knowing how much of a gift it is to have the ability to be move and perform the many different everyday functions, as well as the many sports that I participate in, has always been my driving force in life. After being diagnosed with Pompe disease, the doctor told me to take it easy with my body and I would perhaps be putting myself at risk if I continue. This was all before even being made aware that there was Enzyme Replacement Therapy that could help me.
This was the worst news I could ever have received. It sent me into a downward spiral of depression and a feeling of complete despair. At the time of diagnosis, I was struggling to even walk correctly, I was walking extremely slow, could not climb stairs without using my arms to pull myself up, and was always in such debilitating pain. Depressive thoughts immediately crept in and I struggled to get out of bed anymore.
The mental struggle and stress of thinking that I may lose the use of my body again were enough to drive me near breaking point. As soon as I felt there was nowhere to go, I knew I was at rock bottom. So anything I could do from here would be a step forward and perhaps a step in the right direction to improving my current position.
No physicians could help in explaining to me what I should be doing to try and help my body improve. This is where I believe I should have been assisted in coming to terms with having a chronic condition that will be with me forever. Perhaps I could have been advised that I should see a psychologist for someone to talk to and help in coping with the new diagnosis and prognosis of dealing with things in the future.
Through my own research and knowledge of having a sports science background, I tried to find out what exactly the excess accumulation of glycogen was doing to my body. Everything I read pointed to the accumulation of glycogen being the biggest contributor to causing myopathy and weakness within my body. I also know that no exercise would also cause the body to become weaker.
I figured that self-experimentation may provide some form of improvement, no matter how small, if it was a step to slight improvement. It was a step in the right direction.
So I made a complete shift in my diet to try and cut out as much glycogen as I could from my diet which meant trying to cut out all sugars and carbohydrates. Initially, I started to follow a ketogenic diet which was high in fat and low in carbohydrates. Over a period of 3 months, this showed some great improvement. The pain in my body started to become gradually less and my body started to become more efficient in using fat as a fuel rather than targeting glycogen straight away.
I then started to perform some small form of exercise every single day. I started with simply walking slowly and a few laps in a swimming pool as it helped to be a bit unweighted on my body. Then I started with some exercises inside the pool included with my walking a few laps. Slowly, over a long period of 3-5 months, I started feeling a bit more strength in my body.
This strength, even if so very marginal, gave me the confidence to start swimming some laps in the pool. I started with short sessions and gradually built onto the laps when I felt comfortable to push a little bit longer. Swimming really helped a great deal, not only in strengthening my core body but also my respiratory muscles in pushing my lung capacity a little bit.
I was concerned about the long-term effects of this high-fat diet so I started experimenting more with other eating patterns or diets. The main emphasis was placed on minimal carbohydrates. After trying one diet for a certain amount of time, I would note how I felt in terms of energy levels, as well as how the pain in my body responded.
I was at a point where I was not having the best success in diets with regards to hugely fluctuating energy levels. Then I started a plant-based diet where I mainly ate whole foods that were not processed. I worked out that I was consuming more carbohydrates than in any of my previous diets yet my body was showing positive signs. My pain and inflammation markers started showing improvement and I started to feel a lot more mobile because I was not in so much pain.
I worked out that even though I was consuming more carbohydrates, they were easily digestible and absorbable carbs that did not cause an to be stored up as glycogen.
After 6 months of following this way of eating, the plant-based diet, I did many blood tests with my doctor that showed such great improvement in not only my inflammation markers but as well as my liver enzymes, which was the biggest surprise to my doctor. He also noted that my muscle tone was showing signs of strengthening which initially he believed that I would not gain any more strength from where I currently was.
To this day, 7 years later, I am still following this diet and try to perform some form of physical exercise every single day without fail. It has helped me with improved muscle development and continuously gaining confidence to go a little bit further with my exercise. Helping to strengthen my body so I can have a high quality of life without so much pain and complications caused by the disease.