Perspectives of The Pompe World

Autosomal Recessive. In short, it means every child we create has a 25% chance of being affected by the disease they inherit from us. Every child. So while wrapping our heads around the diagnosis of our second child, it hit us—wait…our first child could have this too?! Yeap. Talk about a kick while you’re down.…

Sometimes, my grief takes up only a moment of a day. Other times it’s a thief of the entire day. Sometimes I can sit with it calmly, and sometimes I wrestle it with everything I can muster. Many times it just sits lazily at my shoulders, or quietly down my cheek. It can be taunting…

Let’s talk about trauma. Mothers are holding their days-old infants down for procedures while they scream. Fathers are bracing their toddlers arms while needles draw the blood that will deliver the news. Pain, fear and discomfort for your child as you watch them cry—it will gut you. As parents, we understand necessity but that doesn’t…

Life goes on. I wasn’t always sure it would but it does. Even with a tender heart, a sea of unknowns and a cloud of worry, life still goes on. Our other children need us. Our jobs, our partners and families need us. We have to get back to life after the bad news. Even…

Yes, we do this for the attention. Not for the attention it brings to myself, my family or even my daughter but for the attention it brings to this disease. I want people aware. I want people to hear this story and ask “was my child screened?” I want people who have experienced symptoms and…