Perspectives of The Pompe World

The Deidesheimer family brought home baby number 2 in 2019. Evelyn “Evie” was only 7 days old when her mother received the heart-wrenching call. 5 missed calls and frantic voicemails from the pediatrician’s office was only the beginning of learning their bad news: Evie was diagnosed with Pompe Disease. There was panic in their pediatrician’s…

There is no right or wrong way to cope with receiving this diagnosis. You can be in every stage of grief in a single day or live in one stage for weeks. Maybe you skip some stages entirely. Maybe you never make it past a single one. There is no itinerary to grief. There is…

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…