Talking to your child about Pompe disease
Last updated May 12, 2025, by Susie Strachan
When you have a child living with Pompe disease, you will probably need to decide when and how to talk to them about their condition, especially if they were diagnosed at a very young age.
Even if your child hasn’t yet brought it up, being prepared for their questions about Pompe disease in children can help you better support them emotionally, physically, and socially.
Keep in mind that talking to your child about Pompe disease isn’t something you do just once. Like most important parenting conversations, it’s an ongoing discussion that evolves as your child gets older.
When is the right time?
There is no one right time to begin talking with your child about Pompe disease. Although, asking you questions unprompted may be a sign they are ready.
Kids often notice more than we think. While at a young age they may not know they have muscle weakness because of infantile-onset Pompe disease, for instance, but they may sense that their body works differently or that they need more medical care than their friends.
Eventually, natural curiosity may develop into a deeper awareness. But sometimes, kids with a chronic illness such as Pompe wonder if they did something wrong to cause their situation, which can lead to confusion or anxiety.
Having short, supportive conversations early on can help them feel safe as they begin to better understand their disease. What to say and when depends on many factors, including the type, such as late-onset Pompe disease, and the progression of their symptoms.
If your child has many questions or seems frustrated, reassure them by talking more directly about how Pompe disease will affect them and how you will work together to manage it.
But what matters most is that the conversations are ongoing and age-appropriate.
Age-appropriate conversations
It’s normal to be nervous about talking to your child about Pompe disease.
How do you begin to explain something so complex to someone so young? What’s too much? What if they ask a question you can’t answer? Should you protect them from some information?
These conversations may seem overwhelming, especially if you’re still processing the diagnosis. But children can pick up on differences in their bodies or routines, even when they don’t fully understand them.
What and how you share information should be guided by your child’s age, maturity, personality, and the disease’s progression.
Toddlers and preschoolers
A child who is not yet school age does not need detailed explanations — keep it simple and reassuring.
Focus on what’s happening now and how Pompe disease symptoms may affect them without making it sound overwhelming. The goal is to create a comforting space so your child feels supported and secure.
Early school age
Expect more questions when kids are in elementary school. Your child may become frustrated when they aren’t able to do everything their friends can, miss school, or can’t go on playdates because of Pompe disease treatments, doctor appointments, or physical therapy.
Be honest, but focus on what they can do. Try saying, “Your muscles work differently, so we’re doing things to help them stay strong.” Books, drawings, and digital tools may be helpful in explaining the disease.
Support your child’s feelings by listening and being patient, and don’t ignore their worries. If they say they’re scared or upset, try saying, “That sounds scary. I understand why you feel that way.” This shows them you’re listening and that their feelings matter.
Older children and teens
As children get older, their questions become more complex. They may start to wonder how a Pompe disease diagnosis will affect their quality of life.
Teens might ask about their ability to play sports, wonder about college and a career, or think about adulthood, including questions about Pompe disease life expectancy.
These conversations can be tough, but being open and honest can help you keep their trust. Address their questions directly. Be clear about what they can expect, both in terms of symptoms and treatments.
Discuss how physical therapy and enzyme replacement therapy can help manage their symptoms and support them in continuing to do the things they enjoy. This approach can help them feel more in control of their condition.
Don’t expect to have all the answers. When you aren’t sure of the right response, tell your child you will try to find out.
Prepare them for the transition to adult healthcare by encouraging them to take an active role in their care, from asking questions during medical appointments, to helping make decisions about treatments.
Having Pompe disease can make older children and teens feel left out or different, including at school. You can offer to work together to figure out what to say to explain their condition when other kids ask questions. You may also suggest talking with their teacher or a guidance counselor if they need more support at school.
Handling their emotions
Children can react emotionally to living with Pompe disease in different ways, depending on their age, personality, and health.
Anger, sadness, confusion, and fear are common. One day your child might be fine, and the next, they might be overwhelmed. Stay calm and supportive by listening carefully and reassuring them that whatever they are experiencing is valid.
Supporting your child’s mental health is as important as managing their physical symptoms. A therapist or mental health counselor experienced with chronic conditions such as Pompe disease can help guide these conversations.
Children and teens with Pompe disease may not know how to talk about their feelings. Little ones can draw pictures or play-act to show what’s on their mind.
Older kids and teens might like writing, making music, or doing art. Help them find ways to relax, like deep breathing, gentle stretching, or light sports if they are allowed.
Tips for thoughtful conversations
The effects of Pompe disease are a constant part of your child’s daily life. So, instead of saving talks for big moments, have short, honest conversations every day. It may help your child become more comfortable asking questions and sharing how they feel.
- Keep explanations age-appropriate and revisit topics as your child gets older.
- Talk with your child’s Pompe healthcare team or therapist for help with explaining tough topics or treatment changes.
- Connect with other parents through support groups or social media forums to learn how they approach these conversations.
Helping siblings understand
Your child’s siblings might feel that their brother or sister gets more attention, has special routines, and is not treated the same as they are. Some kids may become jealous, resentful, and guilty about the way they feel, which is why talking openly is important.
Let siblings know that everyone in the family is important and loved. Try saying things like, “Your brother needs extra help, but that doesn’t mean we don’t care just as much about you.”
Have age-appropriate conversations with siblings. Let them ask questions and express their emotions. Open conversations with, “It’s OK to be upset or confused. Do you want to talk about it?”
When possible, set up one-on-one time with each of your children. Do your best to help them feel heard and included.
Whether you are talking with your child living with Pompe or their siblings, your conversations should always be age-appropriate and ongoing. Just as important is that you stay open, honest, and guided by love.
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.