Pompe disease has 2 different forms: early-onset and late-onset. I’m almost positive that physicians are not aware of the difference in the 2 types of symptoms, at least those who are just learning about the disease. I’m only a Pompe patient speaking from experience, sharing my thoughts. Pompe disease patients don’t share all the same symptoms, and because we don’t share the same symptoms, we don’t all require the same treatment. 

Early-onset Pompe disease shows early symptoms in babies and is more likely to be fatal compared to late-onset patients. However, when it comes to late-onset patients, the death rate varies. There’s no way to precisely determine how long a late-onset person will survive because the symptoms differ in us. Many of us are on different levels and, as such, require different care. 

Even though I consider myself healthy, I’m on a different level than some people I know who have late-onset Pompe like myself. And while I hate to use the word “level,” I just don’t know any other way to say I’m in a wheelchair and on vent all day while others can still walk and only use a vent to sleep. My situation and lifestyle are different and that’s okay. 

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The unique characteristic of Pompe disease and many other rare diseases is that some of them are like snowflakes, they can look and be different from us. This means that our lifestyles and treatments are different. But here’s a question, should our doctor’s visits be different as well? Should all Pompe patients be tested and checked out about the same thing even though some look different and live a healthy normal life?

Read more about the origins of Pompe disease

I have a team of doctors who work together for my care. The team includes a pulmonary doctor, cardiologist, orthopedic doctor, nutritionist, genetic doctor, and a few others that I don’t even know what they do but they seem to pop up during physicals. What I’ve come to realize is that some people with Pompe disease who don’t have the level I have, don’t have the same care plan as me. I was surprised to learn this. I understand it but I have to question if it’s a good idea to not have us all on similar care.

The disease itself causes muscle weakness and the deterioration throughout the body is a sure thing despite the overall health of the patient. The treatment care I have should be the same for anyone with Pompe disease. Moreover, don’t underestimate any rare disease. The deterioration is silent even to the patient. Regular checkups with our heart and bones and breathing are important. I feel like doctors can sometimes believe their vision more than science. And they can sometimes believe their patients more than science as well. There have been plenty of times when I have talked myself out of getting certain tests done and treatment, but in the long run, I realize I should have done what was suggested by my doctor.

Even though we do have choices as patients and we’re never forced to do anything, sometimes I wish doctors would push for different approaches. It’s up to patients to push for the kind of treatment care that we need. And for those that have a great team of doctors, we have to stay on them. Physicians will notify us when it’s time for our yearly physical but that’s all. Doctors are great and some are amazing, but too many are too comfortable in their careers.