Perspectives of The Pompe World

That first year is the hardest.

When you Google Pompe Disease and read something along the lines of how some kids don’t live to see their first birthday, it wrecks you.

I remember thinking, “I’ve only got a year?”

And I swear I don’t think I exhaled for the first time until we reached that one year mark.

Even aside from inaccurate Google findings, that whole first year is full of so many unknowns. This is the point where we are watching ever so closely, ever so anxiously, and ever so exhaustingly. It’s this whole first year when they develop so much so fast and we as parents are waiting to see how ours will develop.

Will she lift her head?

Will he roll over?

Will she crawl?

Will he stand?

Will she walk?

Will they see their first birthday?

Because the doctors can’t say exactly what this is going to look like. They have educated guesses and comparative assumptions but they assure you that they can’t definitively say. So we wait, and we watch, and we hope. We do appointment after appointment. We trend the labs. We collect the procedure reports. And we watch our child while we hold our breath.

But MAN, do we celebrate! We celebrate every small victory that we were not sure we would see. These things become monumental when we were not certain they would come.

When he holds his head up.

When she rolls.

When he crawls.

When she stands.

And my goodness, when they walk!

And then we exhale.

Maybe these things happened because they started treatment early. Maybe they happened without treatment yet. But the fact that they are happening when we once questioned that they would, it’s everything we need to exhale. It’s everything we need to feel like it’s going to be okay, and to have hope for the future of our families.

And when they blow out that candle we can reframe our minds. We can accept that we don’t always know the answers, feel assured that it won’t be as bad as we once feared, and take it all one day at a time with hope in our hearts.