Perspectives of The Pompe World

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…

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,…