Perspectives of The Pompe World

As parents, we adore those things our kids get from us. When they get our blue eyes or full lips. Red hair or curls. Artistic or athletic talent. We love to see those little pieces of ourselves in them. I imagined the worst thing my kids would get from me is a smart mouth or this unruly hair.

But, I was wrong. And sometimes that guilt can be all too much.

Pompe Disease happens from receiving genetic mutations that were passed from both parents. Our geneticist explained that everyone carries recessive genes for 3-10 diseases that they’ll never know about without being tested. Usually these only come to light when a child is created with a person who also carries a genetic mutation for the same disease. The statistical odds blow my mind.

This came from me. From us. My body did this.

In most cases, the parents never even know they are carrying around this ticking time bomb. I didn’t. My husband didn’t. Most parents I’ve met through this had no clue. And every one of them will mention guilt. That still proves to be the biggest and most overwhelming emotion I feel as we’ve navigated through life after getting the diagnosis. And this kind of guilt has nothing on those other “parent guilts” like too much screen time or excess junk on the weekends.

Those guilts just needed a little grace and a new day. This guilt needs much more.

I have to tell myself on a fairly regularly basis things like:

“You couldn’t have known.”

“It can happen to anyone.”

“There is nothing you could have done to change it.”

At the end of the day, I know these things are true to their core. Even if I could have known before, I can’t imagine not having her here with us either. Still, sometimes I sink myself into an impossible place as I tally up the ways this has impacted (and will always impact) my family. This whole experience has tested me to points I’m not proud of, but it’s also given me no choice but to grow. I have found permission for grace through the other moms and dads I’ve met in this community. Maybe I wouldn’t have had that opportunity to be a better version of myself without it. It’s made me the mom I’m called to be and I find some comfort in that. It’s pushed me to advocate for this disease and encouraged me to get my hands dirty with shaping the future of her life with Pompe Disease. Maybe it’s the guilt that fuels me, maybe it’s the hope. Maybe it’s both.

When it’s all said and done, that’s what I have to remember most when the guilt gets overwhelming. One day at a time with light on the horizon, doing our best with our matching hair, her daddy’s nose and a tricky disease that must have needed our attention and advocacy.