I have always used my social media channels to reach out to other patients who also have Pompe disease. I feel we can all learn something new from others going through their own struggles with Pompe because this disease is an extremely rare genetic mutation. We are all going to be slightly different and our symptoms may be different at different stages of the condition.
Through their interaction, I have been able to experiment with things that they have told me, which has helped me in coping and managing my own struggles with Pompe disease.
Pompe disease is an inherited rare glycogen storage disease. Glycogen is the stored energy within your body that fuels the entire body, not just your core major muscle groups but also your heart and lung muscles that regulate everything in your body. Pompe patients are missing or have a limited amount of an enzyme that helps to break down glycogen in the body to fuel muscles.
Read about HCP resources for Pompe
When the body is not able to break down glycogen, it is not because there is no glycogen present, it just does not have the enzyme available to break it down. The body then needs to use something as fuel to keep it going so it turns to the patient’s muscles and causes huge amounts of muscle trauma and damage at a very molecular level, causing thousands of cells to explode. This leads to severe pain, muscle weakness, debilitation, or sometimes difficulty breathing.
When making contact with other patients in England, I ask them simple things, specifically about how different our symptoms and experiences are from getting diagnosed to obtaining treatment between England and South Africa.
Here’s a quick look at the differences and similarities I learned from my communications with my fellow Pompe patients overseas:
What were your pre-diagnosis symptoms? My Pompe pal in England said: “I started out getting ulcerations, lesions, swollen joints, a great amount of fatigue, and pain, as well as constantly catching viruses that would take forever to get better.”
My early symptoms were different, including muscle pain and debilitation that would sometimes render me unable to walk. I also would sometimes get small cuts that would take forever to heal.
How long did it take you to get diagnosed? My diagnosis took 10 years; a mere 7 months for my social media friend in England.
How does having this rare disease affect our day-to-day activities? My Pompe pal: “I can’t do most things without supervision or assistance. I’m very restricted in what I can do when I’m on my own.”
I also started off in such a poor state in terms of how I functioned and my quality of life was not great at all. I believe a lot of this was due to taking so many years to be diagnosed as my body digressed with the disease. Having a diagnosis, though, helped me experiment with various diets and enzyme replacement therapy, which I receive via an intravenous drip every 2 weeks, has helped me improve and gradually gain back an improved quality of life.
Do you follow a specific diet? My Pompe friend is now gluten- and dairy-free, avoiding anything that is difficult to digest. I started out following a ketosis type of diet, which is very low in carbohydrates and high in protein and fats. Carbohydrates turn into stored glycogen in your body so I tried to limit the build-up of glycogen in my body. I didn’t do so well still with the amount of fat and meat proteins; it would cause really high levels of inflammation within my body.
I have found that following a plant-based diet has had the best results for me, in which my carbohydrate amount is more than before but it is all easily absorbable and digested carbs. The high antioxidant foods also help a great deal with combating the inflammation markers, and having a clean gut allows my body to function more efficiently in terms of making use of correct energy sources.