Editor’s Note: In this Q&A feature, Pompe Disease columnist Bruce Campbell reflects on his long journey from mysterious, debilitating symptoms to a diagnosis and the remarkable progress he’s made in managing his rare disease and inspiring others to do the same.
Q. How important is Pompe Disease Awareness Day to you?
A. Pompe Disease Day means so much to me as it is a day where we can create so much incredible and important awareness for the many rare diseases out there. There are 7000 known rare diseases and more are being discovered constantly that are affecting over 300 million people globally. I struggled for 10 years to find a diagnosis for my rare Pompe disease and all the while I was suffering from unexplainable symptoms that many doctors could not figure out the cause of my pain. By creating awareness, I hope to help others struggling to get a diagnosis for their rare condition and guide them into obtaining treatment that could help them, even save their life as my medication treatment has saved mine.
Q. In the time since your late-onset Pompe diagnosis about 9 years ago, has awareness of the rare disease, its diagnosis, and research to discover better treatment, increased?
A. Yes. Slowly but surely through raising awareness through many rare disease non-profit organizations and having access to incredible websites like Rare Disease Advisor, the spread of knowledge for the many rare diseases out there has expanded in a positive way. I have learned a great deal about my disease and the many experimental treatments out there that are trying to make medication more easily available as well as helping us living with rare diseases individuals live a better quality of life.
Q. What singular message do you have for others who just learned they have Pompe?
A. Being diagnosed with Pompe disease is most certainly not a life sentence. Finding the diagnosis and placing a name to your symptoms is half the battle won. Being able to get onto treatment for Pompe and adopting a possible lifestyle shift to incorporate physical exercise into your everyday routine as well as a small diet shift can significantly help your body in managing the disease better.
Having Pompe, I have learned that every single day is a gift and it is most certainly not about how many hours you have to live here on this earth but about what you can fit into those hours that can allow you to still live a remarkable life.
Q. In the early days of identifying your symptoms before the firm Pompe diagnosis, how prolonged and difficult was that process?
A. It was an incredibly tough and scary time in my life. Having these symptoms of extreme pain and muscle weakness when no doctors or specialists were able to assist in an explanation as to what is causing my body to experience these symptoms. There were days when I was unable to get out of bed and this deterioration continued for 10 years until I was finally diagnosed.
Q. Is there a turning point moment you can identify that sent you in the right direction for managing Pompe?
A. I was told once diagnosed that I should take it easy and not try to perform much physical exercise. As a sport scientist, I knew that everyone needs to perform at least 30 minutes of physical exercise every day for their health. So I aimed to just do 30 minutes a day and the only exercise I could do was walking in a pool. After some time doing this every day, I could feel my body very gradually getting slightly stronger, which the doctors said was not possible. This changed my outlook on managing my disease completely and I still focus on ensuring I do some form of exercise every day to continue building my body back up even if it is slower than everyone else, it is still a step in the right direction, forward.