Our family’s experience with Pompe disease is just one of many
I am reminded that not everyone had the same opportunity my child did
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When you raise a child with a rare disease, it is easy to become consumed by your own version of that disease.
You learn your child’s numbers, memorize the medical terminology, track appointments, and pay attention to every change that might mean something. You become familiar with the research, the treatments, and the questions that keep you awake at night. Your child’s experience becomes your frame of reference for understanding what it means to live with the disease. But every so often, something reminds me that our experience with Pompe disease is just one of many.
When we travel to Duke University to see Caroline’s team of doctors and researchers, we sometimes encounter others who are living with Pompe. They may be sitting in a waiting room, walking through the hospital, or arriving for their own appointments. Some are children. Others are adults who have lived with this disease for decades.
Differences within a shared diagnosis
Although we share the same diagnosis, our experiences can look very different. Caroline is still young enough that she doesn’t fully understand what her life might have looked like if her treatment hadn’t been available when she needed it. She knows she has Pompe disease. She knows she has infusions and doctor appointments. She knows there are certain things she has to do that her friends don’t. But she also knows a life that feels, for the most part, wonderfully ordinary.
She goes to school, spends time with friends, participates in activities, and worries about the things most children her age worry about. Pompe is part of her life, but it doesn’t define it. As her mom, I am profoundly grateful for that.
Caroline was diagnosed through newborn screening and began enzyme replacement therapy before her first birthday. She had access to treatment during a critical window, before the disease had the opportunity to affect her in the ways it might have otherwise.
When I look at older people with Pompe, I am reminded that not everyone had that same opportunity. For some, their diagnosis came after years of unexplained symptoms, weakness, or declining muscle function. For others, treatment wasn’t available when they needed it. The medical advances in Caroline’s story came too late to change the beginning of theirs.
I can’t help wondering what their lives might have looked like if they’d been diagnosed earlier or had access to the treatments Caroline receives today. It’s a difficult thought, especially when I consider how much of Caroline’s future remains unwritten. I know treatment isn’t a cure, and I don’t take for granted that early intervention guarantees a particular outcome. We still have questions about what lies ahead. But seeing others reminds me that Caroline’s opportunities today are the result of years of scientific progress, advocacy, and families who refused to accept that nothing more could be done.
Those moments bring gratitude, but also sadness. I feel both at once. I am grateful that Caroline’s story began when newborn screening and treatment gave her a different starting point. At the same time, I recognize the unfairness of a disease in which the timing of a diagnosis and the availability of treatment can have such a profound impact on someone’s life.
The things that bind us
It’s easy to look at these differences and see only what separates us, so I think instead about what connects us. Every person with Pompe, regardless of age or disease progression, is part of a community working toward the same goal. Parents share information. Patients tell their stories. Families advocate for better treatments, increased awareness, and more research. Scientists and physicians continue searching for answers that might improve lives today and change the future for generations to come. We are not all standing in the same place, but we are moving in the same direction.
I want Caroline to understand that someday. I want her to appreciate the opportunities she has without feeling guilty. I want her to recognize that the treatments she receives are not simply something that happens every other week. They represent years of work by people who believed that those living with Pompe deserved better options. And I want her to understand why research matters, even when she is doing well.
Rare diseases can make the future feel frighteningly uncertain. As parents, we spend so much time watching for signs of progression and wondering what comes next. It can be tempting to focus exclusively on protecting our own children from whatever might lie ahead.
But the Pompe community reminds me that our responsibility extends beyond our own families. When we advocate for research, we are fighting for children who will be diagnosed tomorrow. We are fighting for adults who need better treatment options today. We are fighting for families who are still waiting for answers and for the possibility that a future diagnosis will no longer carry the same uncertainty.
Every visit to Duke reinforces how much progress we’ve made, but also how much work remains. Caroline may not fully understand that yet. For now, she is a little girl living her life, one infusion and one ordinary childhood day at a time. I hope she gets to keep doing that for a very long time. And I hope that, one day, the families who walk into those same hospital hallways will have even more reason to feel hopeful than we do today.
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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