I’ve had to learn how to keep living in the waiting room of rare disease

We’re back in the waiting room at the geneticist’s office. Since my daughter Caroline was diagnosed with late-onset Pompe disease at birth, these appointments have become part of our routine. Today, she’s 7 years old and kneeling on a seat two chairs away from me so she can look out the window. I find myself tracing the bright patterns on the chairs, watching the door swing open again and again as nurses call out names that aren’t ours.

Even though we’ve done this so many times, the waiting never gets easier. Every time the door opens, I catch myself holding my breath, hoping it’s finally our turn. Sitting here, it occurs to me: This isn’t just a waiting room. For families like ours, waiting becomes a way of life.

By now, I know the routine by heart. The nurse will check her temperature, blood pressure, height, and weight, and we’ll get those numbers right away. Usually, nothing changes.

It’s the conversations with the genetics team that I find myself bracing for. What will they see this time? Caroline looks fine to me, but will they notice something I’ve missed? Will we leave with a new plan, or will things stay the same? I wait for their thoughts on test results, on how the disease is progressing, on what comes next. Even after we leave the hospital, the waiting follows us home.

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Living in the waiting

Seven years into this journey, I still carry a quiet anxiety with me before and after every appointment. I’m always caught between the comfort of believing everything is OK right now and the worry of “what if it isn’t?” My mind goes back and forth, trying to stay present with Caroline and my other two kids, while also preparing myself for whatever might be around the corner.

Waiting for test results can feel like carrying a heavy weight on my chest. If the doctor tells us everything looks good, we get to keep moving forward as we are. But if there’s talk of changing her dosage or adjusting her infusions, it means rearranging our whole schedule. That often means shifting the kids’ activities and routines, too. It’s never just one change — it ripples through our whole family.

Early on, I realized that having a child with Pompe disease meant living in the unknown. Living in the waiting room, both literally and in my mind. The disease can change in ways we can’t always predict, and Caroline’s journey will be her own. I find myself quietly planning for the “what-ifs,” always a little hesitant to let my guard down. I’m always watching for new symptoms or small changes, even when things seem steady.

From the outside, we look like any other family. Caroline was lucky to start enzyme replacement therapy early, and she’s been able to do so many of the things her friends do — playing sports, joining gym class, just being a kid. Most people have no idea she has a genetic disease. What they don’t see is the invisible weight we carry. As her mom, I try to shoulder most of it myself. Waiting is one of the hardest parts of living with a rare disease, and it’s also one of the most hidden.

Raising a child with Pompe disease has taught me more than I ever expected. It’s changed my life in countless ways. The biggest lesson has been learning how to live with many feelings at once: happiness, stress, anxiety, hope. I’ve learned to keep living, even while I’m waiting. In a way, I’ve learned to make a life inside the waiting room.

It took me a while to get to this place. I had to learn to listen to what I needed and to let myself enjoy the things that bring me happiness, without guilt. I remind myself that what I’m doing right now is enough, because it’s the best I can do. I try to give myself grace, though I often have to remind myself to do so. Accepting uncertainty is still hard for me — I want to fight it. But I’m learning that it’s possible to feel both apprehension and happiness at the same time.

I glance over at Caroline, still kneeling two chairs away. I notice her messy blond hair, pink T-shirt, jeans, and the muddy sneakers she wore in. I see her freckles, her dimples, and the strength in her body and mind that will carry her forward. Maybe waiting will always be part of our lives. But it doesn’t have to be a place where I feel stuck. It can be a place where I learn how to live.

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.