Some decisions don’t feel like choices in our Pompe disease journey

For me, one of the hardest parts of parenting a child with Pompe disease hasn’t just been learning all the new medical terms or keeping up with appointments. It’s the decisions. The ones that don’t have clear answers. The ones that keep me up at night, long after the doctor has left the room.

In those early days, I was faced with choices that didn’t feel like choices at all. Should we start enzyme replacement therapy (ERT)? Should we implant a port to make the infusions easier? On paper, these are options. In real life, they feel more like standing at a crossroads where every direction is difficult.

When my daughter Caroline was diagnosed with Pompe, I remember wishing someone would just tell me what to do. Not because I wanted to give up my responsibility, but because I wanted to know I was making the right choice. What I’ve learned is that with rare diseases like Pompe, there usually isn’t one right answer. You just do the best you can with what you know at the time.

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The choices we make

ERT is an infusion that provides people with Pompe disease the enzyme they lack to break down glycogen. It isn’t a cure, but it helps slow the disease’s progression.

For some families, starting ERT might seem like an easy decision, but for us, it was agonizing. Caroline was diagnosed with late-onset Pompe disease, which usually means symptoms show up later — in childhood, the teen years, or even adulthood. But Caroline started showing symptoms very early, and we were talking about ERT when she was just 10 months old. There are so many things to think about before starting ERT, especially knowing it is a regular, lifelong treatment.

But it wasn’t just a medical decision. It meant hours in the infusion room, changing our routines, and learning to live with a new normal. But it also gave us hope.

Deciding whether to place a port was another tough moment. A port is a small medical device surgically placed under the skin that gives doctors easy, reliable access to a vein. The thought of surgery for my child was overwhelming. I had to weigh my fear of the procedure against the pain of repeated IVs, the need for long-term access, and what would make her most comfortable. None of it felt easy.

Decisions made for you

And then there are moments that feel even heavier — when it doesn’t feel like you have a choice at all anymore.

Pompe disease sometimes makes the decisions for you. When you see your child getting weaker, or when their breathing changes, or when they’re just more tired, it’s suddenly not a matter of if, but when. Those moments can take your breath away. You realize you’re not really in control, and you just have to respond to what’s happening.

I’ve learned those moments are not about making the perfect decision. It’s about being there, asking questions, and doing the best you can for your child with the love and information you have.

There is strength in letting yourself struggle with these choices. It takes courage to keep going, even when you’re not sure. If your decisions come from a place of love and care, that is never failure.

If you are in the middle of one of these decisions right now, please know you’re not alone. Every parent in this community has been there, caught between fear and hope, just trying to do what’s best for their child. The decisions might not get easier, but you do get stronger as you go. One decision at a time.

Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.