Perspectives of The Pompe World

Autosomal Recessive.

In short, it means every child we create has a 25% chance of being affected by the disease they inherit from us.

Every child.

So while wrapping our heads around the diagnosis of our second child, it hit us—wait…our first child could have this too?!

Yeap.

Talk about a kick while you’re down.

As if the truck that just ran me over threw it in reverse to come back again.

Please, God, no.

This moment of realization has a home among the list of my worst fears. I remember it so clearly and tenderly.

Luckily, our first was not affected. He was born the same year that our state began screening so he was already tested at birth—we just didn’t know it. He still has a 50% chance of being a carrier but that won’t matter until he’s having his own babies.

But, not everyone is so lucky.

Not every previous child was screened at birth depending on when they were born and in what state.

That means that a parent who has just received a diagnosis for their newborn, also learns that they have other children who have the same diagnosis. They learn this seemingly all at once and the weight of that reality feels impossible to carry.

This scenario is bittersweet. The devastation of learning about multiple children is earth shaking for the family. However, this provides answers. Answers that would have likely been hard to reach without newborn screening. The older siblings would have likely spent much time with their symptoms, irreversible damage and confusion. The younger sibling’s diagnosis saves their older sibling from so much hardship and improves their outcomes. In a sense, the younger sibling is a bit of a hero in the story, shedding light on an issue that could have been so much worse.

A blessing in disguise.

This does not diminish the affects of such hard news but it does offer a glimmer of mercy.

Every child born to carrier parents have the same chance of being affected by the disease. The diagnosis happens to the whole family because upon learning about one diagnosis, any previous or future children have the potential to be affected as well.

This understanding changes the trajectory of family dynamics is a huge way and feels much like a blessing and a curse for those families involved.

Bad with the good.

Bright side and dark.

A hard truth.

These families’ unique stories shed some light on the possibilities of the autosomal recessive pattern and will undoubtedly change the future of diagnostic practices. It also sheds some light on the stages of fear and special considerations that occur when navigating the diagnosis. These families mourn the bad news but also describe it as a gift to their other children and to their future as a team in the fight against the disease.