Learning to translate the language of Pompe disease
It's hard to explain to others when I'm still figuring it out myself
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When your child is diagnosed with Pompe disease, it’s like being caught in a storm of information. Suddenly, you’re overwhelmed with medical terms, appointments, and emotions. I remember feeling like I was trying to drink from a firehose. It took me months, perhaps years, to really grasp what was happening with my daughter Caroline. Even now, seven years later, I’m still learning, double-checking with doctors, and rereading information to be sure I haven’t missed anything.
Trying to learn everything about Pompe disease is exhausting. Sometimes I wish there were a simple guidebook for parents — one that explains not just the science, but also how to answer our children’s questions, carry the mental load, and explain this rare disease to friends and family.
My loved ones asked so many questions because they cared. They wanted to know: What is Pompe disease? Will Caroline get better? What does her treatment look like? Will she be OK? The hardest part wasn’t their questions, but the fact that I was still figuring it all out myself.
When your child is diagnosed with a rare disease, your world fills with words you’ve never heard: glycogen, enzymes, biomarkers, mutation analysis, infusions, cardiomyopathy, pulmonary function tests. These become part of your daily life. I spent hours listening to specialists, scribbling notes, reading articles, and sitting through appointments just trying to keep up. Gradually, I learned the language of Pompe disease.
But then comes the next challenge: explaining all this to others. Sometimes it felt like I was still learning a new language myself, and now I had to teach it. I remember stumbling over my words, unsure of where to start. I worried that if I couldn’t explain it clearly, people might think I wasn’t doing enough for Caroline. That worry weighed on me.
I still sometimes pause and wonder where to begin. Should I talk about genetics? The missing enzyme? Treatments and symptoms? The truth is, Pompe disease is complicated, and explaining it without overwhelming people can feel impossible.
Starting with the simplest explanation
When someone asks about Caroline, I start with the simplest explanation I can: Pompe disease is a genetic condition that affects the muscles. Caroline’s body doesn’t make enough of an enzyme that helps break down stored sugar called glycogen. Without enough enzyme, glycogen builds up in her muscles and can cause damage over time.
Usually, that’s enough for one conversation. If someone wants to know more, I add that Caroline has late-onset Pompe disease. Even though it’s called “late-onset,” that doesn’t mean it’s mild — it just means her symptoms appeared later than they do in babies with infantile-onset Pompe disease.
That distinction matters. Some people hear “late-onset” and think it isn’t serious, which isn’t true. Every child’s journey with Pompe is different. Caroline was lucky not to have cardiomyopathy, a serious heart problem that can affect babies with infantile-onset Pompe. Still, her doctors keep a close eye on her heart.
Caroline has seen specialists since birth, and her doctors decided early to start her on enzyme replacement therapy (ERT), which is currently her main treatment. ERT gives her a version of the enzyme she’s missing. It’s not a cure, but it helps her body do what it can’t do on its own, and we hope it serves as a bridge until future treatments are available. That’s usually the explanation that makes the most sense to people.
Learning takes time
After Caroline’s diagnosis, I felt pressure to become an expert overnight. I wanted to understand every test, acronym, and recommendation so I could be her best advocate.
But nobody learns everything about Pompe disease overnight. Like learning a new language, it takes time. You pick up a few words, then a few more. Eventually, the conversations that once felt overwhelming start to make sense. You begin to understand what the doctors are saying and start asking better questions. You get more confident. Before you know it, you’re the one helping another family understand the words that once confused you.
When I talk to parents just starting this journey, I remind them it’s OK not to have all the answers. It’s OK if your explanation changes as you learn more. Mine definitely has. Understanding Pompe disease isn’t something you accomplish in one sitting; you keep learning, day by day.
Even now, years after Caroline’s diagnosis, I’m still learning, asking questions, and translating. And sometimes, when someone asks about Pompe disease, I still take a deep breath before I start to explain.
It’s not that I don’t understand — it’s that distilling something so complicated, personal, and important into a few simple sentences is one of the hardest things I’ve ever had to do.
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.
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