Editor’s Note: In this question-and-answer feature with Pompe disease Patient Perspectives columnist Bruce Campbell, issues related to the long road from symptoms to diagnosis and the importance of daily nutritional practices are addressed.
Q. Has nutrition, diet, and exercise become a more important part of your daily life?
A.I believe nutrition is the biggest contributor to assisting the body’s ability to heal correctly. I have focused a lot on trying to limit the amount of carbohydrates and sugars I consume as they both turn into glycogen. The excess accumulation of glycogen ends up causing damage to my cells and muscle breakdown. I follow a plant-based diet, which has helped me gain control of my energy level fluctuations as well as ensuring I am having easily digestible foods that my body does not want to store as glycogen continuously.
Being a multisport coach, I know how important exercise is for the human body. I have focused on trying to perform at least 30 minutes of exercise daily. This will not only help keep my glycogen levels low but also help in slowing the deterioration of my muscles. By performing exercise I am helping keep my body’s strength.
Q. How important is social media as a source of information and inspiration to support you?
A. I have been making use of social media from the very beginning. It was 6 years ago when I was first diagnosed. It has truly helped me get in touch with so many others who have Pompe disease and hear all about their struggles in being diagnosed and how they have coped with being on treatment.
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Today, I still have many people messaging me from all over the world to find out more about the things I am doing to help me manage the symptoms of my disease and what I have done to allow me to do exercise again.
Q. Was it difficult to find an “expert” to help you navigate your treatment path?
A. It took 9 years of going from one specialist to the next before I was able to find someone who was willing to look outside of the narrow medical spectrum and start looking at genetics as well as other strange symptoms that I was portraying.
I still feel there are not many experts in dealing with this rare Pompe disease. I always seem to be the one assisting the doctors as to what worked for me and what did not.
Q. Can you briefly describe how your life has changed post rare disease diagnosis?
A. Finding the diagnosis after years of struggling seemed like 90 percent of the battle was won. However, I never realized how rigorous the process would be to try and obtain the enzyme replacement therapy that would ultimately save my life.
Once I was granted treatment, the process of learning how to mix this very delicate enzyme medication took some time. I was taught how to use needles, syringes, IV bags, IV infusion pumps, and all while maintaining a safe and sterile environment.
I then had to learn how to manage time and life with having to perform this infusion treatment every 2 weeks for the rest of my life. It is a lot more tricky than just having the infusion treatment, as some days I experience small reactions and don’t feel well. Yet, I cannot always take off time from work every time I experience adverse effects.
The process roughly runs 2 hours for mixing the medication and then 4.30-6 hours for the infusion to run at various controlled rates, every 2 weeks.
Q. Have treatment costs prohibited you from receiving the best options?
A.The medication, Myozyme, is so extremely expensive. It costs just over $25,000 per month. There have been some improved methods and treatments that have come about but we do struggle to get our medical aid to accept them, so we do not have access to any advanced treatments.