My journey of learning how to explain Pompe disease to others

When my child was diagnosed with Pompe disease, I realized pretty quickly that understanding the condition was just one part of what we faced. The other part was explaining it to everyone — family, friends, teachers, other parents at the playground, even strangers who noticed something and asked questions I wasn’t ready for.

In those early days, I didn’t know what to say. It wasn’t that I didn’t care; I cared so much that I didn’t even know where to start. How do you take something this big and put it into words that make sense to someone else?

At first, I tried to avoid talking about it. When someone brought it up, I would hesitate, hoping the moment would pass. I worried I’d say too much, or not enough, or just get it wrong. Pompe disease isn’t something most people know about, and explaining it felt like stepping into a conversation I wasn’t ready for. So sometimes, I didn’t open the door at all.

When I did try to explain, I usually ended up at one extreme or the other. Sometimes I’d try to cover everything — the genetics, the enzyme deficiency, the muscle weakness, all the unknowns. I could see people’s eyes glaze over, and I’d walk away feeling like I’d said a lot, but hadn’t really helped them understand. Other times, I’d just say, “It’s a rare disease,” and move on.

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Part of our journey was learning how to talk to our children about Pompe

Finding my footing

Over time, as I learned more and lived with the diagnosis, I started to find my footing. I came up with what I call my elevator speech: a simple way to explain Pompe that doesn’t overwhelm people. I usually say something like, “It’s a rare genetic condition that affects muscle strength because her body is missing an enzyme. There isn’t a cure right now, but we manage it with medicine and regular checkups.”

It’s not a perfect explanation, but it’s enough for someone to get the basics. It’s enough to keep the conversation going and to help me feel a little more in control. And that confidence changed everything.

I also realized that not every situation needs the same story. The way I explain Pompe to a teacher is different from how I talk about it with another parent at the park. A coach needs to know different things than a grandparent does.

At school, I focus on what Pompe looks like day to day. My daughter may get tired more easily, she may need breaks, and it’s important for staff to let me know if something seems off. For sports, I talk about balance: She can join in, but we make sure she doesn’t overdo it. On the playground, I keep it short and simple: Pompe is a muscle condition, and she’s doing great. We just keep an eye on things.

Each version is true. Each one serves a purpose.

Learning how to adjust these conversations has been one of the most important parts of this journey. It helps others understand, but it also helps me speak up for my child in a way that feels right and allows me to keep doing it. Because the truth is, explaining Pompe isn’t just about facts. It’s emotional, too.

Every time I say the words “Pompe disease,” I’m reminded that this is real and part of our daily life. Some days, the words come easily. Other days, they feel heavier.

People’s reactions can be unpredictable. Sometimes there are long pauses or lots of questions. Even well-meaning concern can feel overwhelming. I’ve learned that I don’t have to share the whole story with everyone. It’s OK to keep it simple and only say what feels right in the moment.

There’s no perfect explanation

Looking back, I can see how much has changed. I used to avoid these conversations, but now I lead them. I used to second-guess every explanation, but now I speak with more confidence. Not because I found the perfect way to explain Pompe, but because I found what works for my daughter and me. And it is still evolving.

As she grows and we go through more together, the words change with us. What stays the same is my goal: to help others understand just enough, while knowing there’s so much more that can’t fit into one conversation.

If you’re still in that place where the words feel tangled and hard to find, you’re not alone. You don’t need the perfect explanation. You don’t have to say everything at once. Start small, keep it simple, and let it evolve.

Over time, you’ll find your words, and when you do, they won’t just help others understand your child’s diagnosis. They’ll help you step into your voice as their advocate. And that voice matters more than getting the explanation exactly right.

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.