Perspectives of The Pompe World

There are many special gifts exchanged between adults and children diagnosed with Pompe Disease. These two perspectives really highlight the spectrum of this disease and the importance of newborn screening. As a mother of a child diagnosed, the diagnosed adults meant so much to me. For my family, they offered a real life view of…

As a parents of a child with Pompe Disease, I am always watching my back. Pompe isn’t at the back of my mind—it’s the front too. This is most obvious when I notice something off about my child. Every minor thing I notice, I catch myself asking “is this Pompe?” That milestone that’s a little…

Not today, Pompe. The majority of the time that phrase is used in the manner of triumph and strength. It’s with pride that I say it, knowing that Pompe isn’t getting us down. And some days, it’s dismiss. Not today, Pompe. Because today, I can’t. Because sometimes I feel exhausted and overwhelmed. Sometimes I feel…

Thank you to the people who first breathed hope into me during my darkest days. You found me, or I found you, and I can’t help but feel like everything changed then. You knew. You knew how I felt, because you had felt that too. You knew what I feared, because those fears were once…

Firstly, I think you’re perfect. You are so loved, so cherished, and wanted. I don’t have to try harder to love you as you are. It is natural, unconditional, and you are NO less in my mind and heart. Anything I think I may want to change about you would be for your quality of…