As I write this post I’m thinking about three very different groups; patients & families, the medical community, and everyone else. Some of us might be in more than one group, a few in all three. But we’re all in this big ball o’ fun together.

Patients & Families

These are the people that are closest to my heart. Hey, I’m a charter member! None of us chose to be thrust into the world of rare disease. Some of us struggled for years to be diagnosed and then had to beg to receive treatment. It’s not like we can say, “Okay, I’m done with Pompe. I think I’ll be tall, healthy and maybe play professional basketball now.” We’re more likely to say, “It’s been a good day. I haven’t fallen today.” Or, we’re happy because this time our nurse got the vein in one poke. We get excited when we reach milestones like 100 infusions. I remember my 100th infusion, it was about 100 infusions ago. And yes, we do call them poll-dances.

So, as patients or parents, what do we do? We support each other. We listen when someone is scared or needs to vent. We share our knowledge. We celebrate when someone joins our little club because being diagnosed doesn’t give you a disease, it empowers you to own it. And we use the f-word – we fight. We fight for treatment in some countries. We fight for our kiddos to be treated like other kiddos. We fight for the care that we and our kiddos deserve.

Medical Community

Once I got past the shock of diagnosis and saw things unfold, I could see that we were assembling Team Brad. I didn’t see eye to eye with all team members but we traded the ones that didn’t work out and we’re a stronger team now. The thing that all team members need to understand is that the patient is the only permanent team member. We need to be fully informed and engaged in our care. With that comes the responsibility to do our part; diet, exercise, stay informed. We expect to be listened to but we also need to be willing to listen.

The place where we can still do better is in diagnosis. Babies are still being harmed or lost to this treatable disease because they aren’t diagnosed soon enough. Children still go through their childhood not knowing why they can’t play sports, why they’re the weaker kid, why they keep getting weaker. There’s a general misconception that adult-onset Pompe disease only affects adults. It doesn’t. It can affect anyone of any age and be very serious. We’re getting there but we need to do better and we all share that responsibility.

Everyone Else

Pompe is one of over 7,000 rare diseases which affect 1/12 people. Even a perfectly healthy person is a carrier for a handful of genetic diseases. The odds of being a carrier for Pompe are only 1/100. That’s not very uncommon. The thing to glean from this is that rare isn’t really very rare. You probably know someone effected by rare disease, even if they don’t know. So, when we beg for treatments that are costly because we have few numbers, think about us. When we walk to raise awareness, walk with us. When you or your loved one receive a scary diagnosis, know you aren’t alone. We get it cuz, well, we just do.


Leading up to International Pompe Day, CAP did a #DYK unawareness campaign on Twitter. Some of those posts are shown below.

Tagged: Int’l Pompe Day