Pompe disease is considered a rare disease but it’s actually not as rare as it used to be. Of course, many have never heard of it, but with it falling under the muscular dystrophy (MD) category, awareness of it is growing. Even though it’s a terrible disease, there’s so much more hope for patients diagnosed today.
Compared to when I was diagnosed, which I can’t believe was actually 20 years ago, there is a much better chance of keeping your life as it is and avoiding any major changes.
I was diagnosed at the age of 12 and I can’t imagine a 12-year-old being diagnosed today and going through what I went through. I can’t imagine a kid going from walking and being active to losing the ability to walk and being stuck on a ventilator. But in order for that to not happen, there have to be a few life changes.
Once you’re diagnosed with Pompe disease, the worst thing you can do is nothing at all. Your doctors will treat you the best they know how, but always remember doctors go by the book. The first thing they’re going to do is get you a team of doctors you will be assigned to because you will now need to see specialists: a pulmonary doctor, a muscle doctor, a genetics doctor, a cardiologist, and an orthopedic doctor. Your primary doctor will now be your least important doctor.
Read about how Pompe is diagnosed
In the beginning, it will be scary because all of the medical tests those doctors will have you take will be overwhelming. Just take everything step by step and speak up about any and everything you don’t understand. Ask questions.
When I was diagnosed with Pompe, I had just been separated from my family, and my 8 siblings and I were put into foster care. Right after my diagnosis, I was moved to a new foster family and then a couple more after that so my condition was never talked about or taken seriously. I didn’t even know I had Pompe and it was never explained to me.
Eventually, the system found my dad, who I had never met. I moved in with him permanently and he noticed a few abnormal things about me. He took me to the doctor and they said there was nothing wrong with me, only later to find out I was diagnosed with Pompe disease 3 years prior. Because my diagnosis wasn’t taken seriously, my dad didn’t take it seriously either. But over the years, I got weaker and sicker, and we were forced to take my illness seriously.
Getting on treatment was the best thing I ever did for my health.
I think my story was a bit unfortunate just because of my childhood and everything I have been through. Besides jumping from foster home to foster home, I also dealt with abuse, depression, abandonment, and being bullied. I know how important it is to put your health first because I lived through a time when my health wasn’t the main priority. And I say that to encourage those who are dealing with a new diagnosis of Pompe disease, or anything else, to take it seriously.
When you feel healthy is the best time to start the proper changes to stay healthy. And if you’re a parent, it’s your responsibility to make sure your child gets immediate care after a diagnosis. I never want any kid to go through what I went through as a child.
Ask questions, start treatment, eat right, exercise, pay attention to everything your body is going through, and most importantly don’t neglect your mental health. A strong positive mindset is key.