Perspectives of The Pompe World

Every child with Pompe looks different.

This has to be one of the most frustrating concepts about Pompe. Our doctors cannot and will not tell us exactly what we can expect in regard to disease presentation, age of onset, progression speed, or their response to treatment.

So they make educated guesses. Based on the amount of enzyme the body makes, the involvement of cardiac decline, and overall presentation, they can tell us if it’s infantile onset (or the most severe form of it.) That tells us that the child must start treatment immediately, but it doesn’t tell us what their life will look like moving forward. Those parents still wonder about things like “will they dance at their prom? Will they be able to lift their child from the crib? Will they live to see their hair turn grey?” All the days with all the wondering, but very little knowing—it’s hard.

Genetics is a complicated realm and no two children with Pompe Disease present the exact same. Two siblings who inherited the exact same mutations, still don’t present the same. Late onset children can still start treatment before a year old. Late onset can have cardiac involvement (it’s rare but we were one of those rare cases!) There are so many things to factor in.

We can never feel settled in acceptance. We watch and wait and see.

I recall our geneticist being so careful with her terminology when saying “She could need to start treatment in grade school, or she could not need it until she’s middle aged, we just can’t say for certain.”

WHAT?

The range of presentation for this is vast and it takes at least a few years of monitoring to learn where your child is landing on the spectrum of disease presentation. And comparing your child to another child—even if they have the exact same mutations—is not accurate.

We just can’t say for certain.

We’ve had to learn to let go of that need for black and white, the need for a solid timeline, and the need for definitive answers. Because we don’t get them until we are wading through that part of the disease progression and that part can come at so many different times. We just white knuckle this life with anticipation, and curiosity sleeps beside us.

Sometimes we feel very defeated trying to explain this disease to the people around us. It’s just a complex thing to wrap your head around and since we don’t always have the answers, we don’t always have them to give to others. The confused looks they give are a reflection of our own hearts too. Some things, we just won’t be able to help you understand because we don’t have an understanding about it either.

It’s been quite the lesson in patience, acceptance, and just life in general.