Perspectives of The Pompe World

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…

I recall very vividly the moment they had confirmed that my daughter had Late Onset Pompe Disease. We had prayed incessantly for days that it was late instead of infantile onset. That diagnosis gave us time. (Or so we thought.) The spectrum aspect of this particular disease is a thief. In many cases, families received…

I’m sorry. I’m sorry I am not always the mother who takes this in stride. I know that’s what people hope to see. I am aware that my weaker moments make others uncomfortable and bring the mood down. It’s heavy-I get that. But I don’t have the energy to avoid my reality in order to…

“She looks so normal.” I hear. I know that. Thank you? I’m never quite sure how to respond. Do I take this as a compliment or defend her deviations? This phrase conflicts comfort and discouragement. We hope for our children to stand out in ways that do not cast a spotlight on illness or disability.…