I enforce lifesaving care to protect my child now and prepare her for the future
Medication is essential and gives her the best shot at staying stable with Pompe disease
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When our daughter Caroline was diagnosed with Pompe disease through newborn screening in 2018, our world turned upside down. We were suddenly lost, searching for answers amid a flood of tests, labs, and medical opinions.
We chose to start enzyme replacement therapy (ERT) within her first 12 months. In less than a year, we’d gone from never having heard of Pompe disease to making biweekly trips to the children’s hospital for treatment.
Caroline was so little, she didn’t know things were supposed to be different. Hospital visits became our norm. The staff became our second family. Everyone at check-in, security, and the infusion center knew Caroline and made us feel at home.
What I worry about
My biggest worry is about Caroline consistently taking her medications as prescribed. With Pompe, medication isn’t optional; it’s essential. It helps her muscles, protects her body, and gives her the best shot at stability with an unstable disease. She needs it, even if she doesn’t understand that yet.
But what will happen if, one day, she decides she no longer wants to follow this plan and just wants to be like everyone else? She might resent the medicine that reminds her she is different, and that might keep her from staying on track with treatment.
Right now, Caroline knows it’s important for her to stay strong because I tell her, and her doctors tell her. But what if she stops believing us?
When your child is little, “because you need it” doesn’t work. She knows how it tastes and that it interrupts her play. Now, she feels anxious just thinking about it. She sees how it sets her apart from other kids. But she can’t yet grasp what could happen if she didn’t take it.
I’ve always explained Pompe and its challenges in a way she can grasp. As she grows and asks more questions, our conversations have changed. I emphasize keeping her muscles strong and staying positive. I let her choose what she can — her cup, her flavor, her sticker. I celebrate every small win because her medication can’t be skipped.
Some days, being positive feels forced. Some days, she refuses. There are days with tears — hers, and, when she can’t see, mine. Getting her to do what she needs but doesn’t want to do feels like balancing love and force. I know it’s right, but it doesn’t always feel kind.
Caregiving marathon
People often imagine caregiving as big, heroic moments — fighting with insurance, making hard decisions, standing up for your child. Those are real. But the daily work of getting your child to take medicine is a caregiving marathon. It takes patience, creativity, and calm, even when I have none left.
I make the decisions now because she’s little. I can insist, reframe, or wait her out. Someday she’ll understand what it means to have a rare disease. But I can’t predict the future. For now, I focus on today. I prepare her with a gentle explanation. I include her, not control her. I lay the groundwork. I don’t want her medicine to feel like something done to her, but rather something we do for her. I want her to trust the process. I know that trust comes from being honest and consistent. I never want her to feel tricked. With each infusion, I try to give her more ownership — maybe she holds the syringe, twists a cap, or describes the next step.
Some days, success means getting her numbing cream on and giving a high-five. Other days, it’s sitting by her, staying calm, and letting her know I hear her frustration, but still holding the line. “I know you don’t like it. I know it’s not fair. We are still going to do it,” I tell her.
Caring for a child with a rare disease means balancing protection and preparation. I protect her health now, making sure she gets what she needs. At the same time, I prepare her to choose her own health one day. Maybe I need to trust the process, too.
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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