Editor’s Note: In this Q&A, Pompe disease columnist Bruce Campbell answers questions from his editor covering the challenges leading up to his diagnosis and how he positioned himself to take ownership of his health post-diagnosis.
Q: How difficult was it for you to finally get your diagnosis?
A: It took me 10 years before I was finally diagnosed with Pompe disease. I spent tens of thousands of dollars on various specialists and doctors trying to find the cause of my pain and symptoms. All the while, my body was slowly deteriorating and getting weaker by the day.
Q: Did you have any knowledge of your disease, or had you even heard of it, before your diagnosis?
A: I had never heard of Pompe disease or many of the other rare diseases out there that people are suffering from.
Q: Did your primary physician or first-line health care providers know about your disease, treatment options, and other relevant, actionable information related to your disease?
A: The doctor who finally diagnosed me did not know about the disease. He called me to his office late one Friday afternoon and explained what Pompe disease was and how it is affecting my body. He was reading this from his computer, where he had pulled up a document about Pompe disease. He was explaining how the treatment was extremely risky and how serious the disease is.
He did not know, however, that late adult-onset Pompe disease is a lot less severe than if you have an infantile-onset of the disease and that treatment is a lot less risky for adults.
Q: Once diagnosed, how easy or difficult was it to learn about the disease, your prognosis, and the treatment options available to you?
A: There is not a lot of information out there about Pompe disease, particularly adult-onset Pompe. I read many medical journals and messaged other people via social media who also have Pompe disease and slowly started to learn more about how to obtain treatment and that it is very effective in helping.
Rare disease nonprofit organizations were also instrumental in assisting my doctor and me to put forward the correct motivation to get me onto this extremely expensive treatment. There is only one real treatment option, which is enzyme replacement therapy.
Q: What regular sources of information did you come to rely on?
A: I joined a few Pompe Facebook groups that really helped me develop a bit more knowledge of this disease. I also have a degree in sports science, which I relied heavily on to study journals and then experiment with various diets and exercises to see how they reacted with my body and which made me stronger and which made me weaker.