Perspectives of The Pompe World

Newborn screening saved us a lot of time and heartbreak. Early detection is vital to a care plan and improves outcomes drastically.

As much as I feel pulled to advocate for the newborn screening, there’s a catch.
As much as I am “drop-to-my-knees-grateful” for knowing about what our future will hold with this disease, I’m also “cross-my-arms-pouty” for what that did to my “newborn experience.”

I did not get to enjoy my newborn like I wanted because I was so preoccupied with my devastation and worry. When my Facebook memories pop up with these photos, I see it in my face. All of it. The fatigue that was not just “I stayed up with a newborn” fatigue but also “I stayed up googling everything I could about this disease” fatigue.
With my first I feared minor things and with this one, I feared a slow death. With my first, I studied breastfeeding and development, with this one I studied genetics and wondered if we needed to build a wheelchair ramp in the yard. The sadness was so intense. Not just regular “baby blues” and not even like the PPA/PPD I had after my first child—this was an elevated sadness that made my bones feel like lead. I see that in these photos and it stings.

Month after month, that sadness became hope and I’m glad for that. I’d never change anything about being in a state that screens newborns but I still feel cheated. And I feel sorrow for the other new moms I’ve met along the way, knowing they probably feel cheated too. So many worries have been resolved but my heart still aches remembering how I felt in those times that should have been happy times. It aches even more knowing that we are done having children and I won’t get another chance to experience a newborn stage in a better way.
Luckily, this community has worked hard to ensure that the sea of muddy information is becoming a pond, with clearer waters. What I would have given for these resources during my newborn stage!

It’s the unspoken struggle among us—and it’s unspoken because we don’t want to seem ungrateful. But you can be grateful and also sad/angry/cheated at the same time. It doesn’t have to be one or the other. You can hope for the future and mourn the life you envisioned. You can admit that you did not enjoy the newborn stage.

I didn’t.
I cringe thinking about it.
And I’m still drop-to-my-knees-grateful for what we learned early.