I was diagnosed with Pompe disease at the age of 12, and just like everyone else who never heard of Pompe disease, I had no idea what it was and neither did my parents. To this day, in fact, a full understanding of the science behind this disease is elusive.

However, I did my research, but not right away. I took it more seriously when I got older, and my body started changing. During those changes came constant doctor appointments along with constant hospitalizations.

By the time I reached early adulthood, I began setting expectations for my doctor to help me understand my illness and the coverage options before me.

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Sometimes, for whatever reason, you could end up changing doctors. No big deal, right? We all love getting a new primary doctor after years of working with one you’ve grown to like, or kind of like, at least, who has learned your medical history and treated you with experience.

Getting a new doctor can be good depending on the situation. Many people change their doctor based on personal reasons. I just recently changed doctors, although it was because I moved, and I really didn’t care for my doctor too much.

But the issue isn’t getting a new doctor, the issue is sitting in my new doctor’s office watching him Google Pompe disease while telling me how he never heard of it. As I previously mentioned, I didn’t know what it was when I first heard of it at 12 years old. 

But I expected my physician to at least have the dignity to research it privately instead of in front of me because my first thought is . . . he’s not going to know how to treat me. He’s not going to know what part of my body needs to be checked regularly or the best medication to give me. 

Am I overreacting?

I mean this is my health we’re talking about. I will say though, the doctor eventually got it together, after getting to know me and gaining a better understanding of my condition. It would be naïve of me to expect everyone to know what Pompe disease is, especially when it’s rare and there are so many rare diseases in the world.

Just look at it like this: let’s say you’re in court fighting a case and you have a public defender (and I say public defender instead of defense attorney because we’re not all that fortunate to afford a private lawyer) who is overworked and walks into court holding your file with your case it in. He or she sits down beside you and reads your case for the first time. How would you feel?

My point is to be prepared and understand what you’re about to work with beforehand. Doctors, surgeons, nurses, anyone in the medical field should meet this basic expectation. I respect these professionals, but I’m learning that no one is perfect in their profession.

I also think patients should speak up more on matters their doctors may not fully understand. Doctors must learn how to treat unique conditions or referred them, and patients need to be active participants in their own treatment.