Perspectives of The Pompe World

For those who didn’t get screened as a newborn, the diagnostic journey looks much different. The initial identification of symptoms is usually brushed off. They chalk up these symptoms to things like not being athletic, growing pains, puberty fatigue, or even just normal aging. As these symptoms worsen and it becomes clear that this may…

Having a healthy child is not all that matters. I saw that written somewhere and I think about it so much. I was the woman who prayed over my belly and thought “please just be healthy.”As if the worst thing that could happen to my child was to have medical complexities. Don’t get me wrong,…

As parents, we adore those things our kids get from us. When they get our blue eyes or full lips. Red hair or curls. Artistic or athletic talent. We love to see those little pieces of ourselves in them. I imagined the worst thing my kids would get from me is a smart mouth or…

Newborn screening gave my family a “heads up.”  Even on the bad days when I feel like this is all so heavy, I am still always grateful for that heads up. Grateful in the deepest and most desperate way.  Every child deserves that heads up, but not all get it.  The more severe end of…

A lot of times on this journey, us mothers are the ones who are out loud about everything. We tell the story, connect with others, interact online and are usually the ones sharing things publicly. But let us not forget about the fathers. They experienced this too. They feel afraid and worry. They sulked with…