Pompe disease is a deteriorating illness that causes muscle weakness throughout the body and eventually results in confinement to a wheelchair and respiratory failure. At least that’s what others take from it after doing internet research.
However, Google doesn’t go into detail about how every person living with a rare disease is different. And the medical world can sometimes be black and white. From my experience, I know how important it is to be open about your rare disease. It is difficult to talk about because you don’t want them to view you as a sick person and treat you differently. No matter your limitations you want to always feel normal, or more so just treated like a regular person.
When you Google “Pompe” you are most likely to come across the life expectancy, which states up to 30 years. I think that’s the part that I hate the most. Not only have I lost potential relationships because of that but I also lost job opportunities.
The harsh reality is that nobody wants to work with someone who is gonna die in a few years. But that’s not the reality. Many people with Pompe, like me, are over 30 years old. That communication is so important because being open about your condition makes others feel more comfortable with you. Even doctors will use statistics and science not only to treat you but define you.
Most of the time, you will be your doctor. And you will be the only patient. It’s your job to have your medical team see you as a person with Pompe and not a Pompe patient.
Read more about experimental treatments for Pompe
I want to speak on friendships because I think it’s a bit underrated. Many people say that not everyone is your friend and friendships never last. But I don’t think true friendships are praised enough. When something happens to us we are most likely to run to a friend with our news more than a family member. Those of us who are lucky to have a best friend have someone who knows the most about us. Pompe is one of those rare diseases that can and will keep you going back and forth to the hospital and that gets very lonely.
Your friends are your light, your laughter. Your family is your support. Your friends can sometimes be your sanity, especially when you’re young. When I was young, my friend was the key to helping me feel normal. I was able to get out and do things because she knew my limitations and she knew about my condition. She was the reason I would go to the beauty salon or shopping, and get dressed up.
If you ever heard someone say laughter is medicine, then you heard correctly. You need fun and you need friends. It’s even more important when you’re an adult. Being an adult and dealing with bills and work and kids, while having a rare disease, is tough. It’s easy to say take a break and make time for yourself, but that is not easy.