Perspectives of The Pompe World

In past I’ve spoken about the “late onset limbo” and how hard that can be. We have the diagnosis, we know that the progression is happening, and we know ERT is in the future, though we don’t know when.  We watch and wait our turn.  One of the harder things I’ve had to come to…

“Carrier status” is something that comes up in this community often. That’s because of the nature of Pompe Disease being Autosomal Recessive. As you can see, that means that children born of those parents have a 25% chance of having the disease (inheriting 2 mutations) and a 50% chance of being a carrier (inheriting 1…

I’ve seen some amazing things grow in less than ideal conditions. One of those things is the community that forms under unfortunate circumstance. I’ve expressed my gratitude toward having this community for nearly 5 years now and that gratitude only continues to grow each year. Something about Pompe Disease just feels less scary when you…

I’d like to start by saying, I am so proud of you. Getting your sibling’s Pompe Disease diagnosis and living with all it entails was hard for all of us, and the way you navigate it makes me swell with pride. This experience entails a lot of hard feelings and you’ve shown so much resilience…