No Pompe journeys are the same, but we don’t have to walk this road alone

Whenever I see a family sitting in a waiting room, I can’t help but wonder about their story. Are they just starting out on their Pompe disease journey? Are they trying to make sense of a diagnosis they never expected, feeling lost in a world of medical terms and uncertainty?

I remember being in that exact place — overwhelmed with questions, searching for answers, and worrying about what the future might hold for my child. That feeling is still so familiar to me.

Other times, it’s not a family in a waiting room. It’s a parent posting online, reaching out for advice about Pompe disease. Maybe they’re trying to figure out when to start enzyme replacement therapy, or they’re wondering if their child will need a port, or maybe they just want to find someone who truly understands what they’re facing.

Every time I see those questions, I feel this strong urge to help. I want to answer every single one, share what I’ve learned, and somehow reassure them that they’re not alone. I wish I could reach through the screen, hold their hand, and let them know it’s OK to be scared and uncertain. I remember so clearly how much I longed for someone to do that for me when we were just starting out.

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Finding our way through the same disease

After my daughter Caroline was diagnosed, I joined every Pompe support group I could find. I scrolled through social media, read story after story from other families, and asked so many questions. I was searching for someone whose experience looked like ours — a child just like Caroline, with the same diagnosis, the same symptoms, the same treatment plan. I thought if I could find that family, maybe I’d get a little glimpse into what our future might look like.

But I often ended up feeling even more overwhelmed. Every story was different — different symptoms, different ages at diagnosis, different treatment experiences, different outcomes. I hoped for reassurance, but I just walked away with more questions than answers.

It took me a long time to realize something I wish I’d known from the start: No one was ever going to be exactly like Caroline. There wasn’t a perfect comparison, no family with all the same answers, and no road map that could show us exactly what our journey would be.

But even though our experiences with Pompe may be different, those of us on this journey are still finding our way through the same disease. We’re patients, parents, siblings, spouses, and caregivers. We know the language of infusions, the anxiety before appointments, the endless questions about research, and the uncertainty about what comes next. Our journeys aren’t the same, but we’re walking them together.

Maybe that’s why I feel so strongly about wanting to help families who are just starting out. I know how isolating it can be to get a rare disease diagnosis. Even when you’re surrounded by doctors, researchers, and other families who know all the right words, it can still feel like you’re completely alone.

I wish I could tell every newly diagnosed parent that they don’t have to figure everything out right now, that it’s OK to ask questions, to feel scared, and to take things one appointment at a time. I wish I could give them the reassurance I spent so many years searching for. And I wish I could help them see that they don’t need to find a family whose story matches theirs in order to feel connected.

We might not have the same symptoms, the same prognosis, or the same treatment experiences, but we do share something important — a commitment to finding answers, advocating for better treatments, supporting each other, and making the future a little less uncertain for the families who come after us.

I know I can’t answer every question or hold every parent’s hand. I can’t promise that everything will be OK for every family. But I can share what we’ve learned along the way. I can remind them that there’s a community here, ready to welcome them. In the end, I think that’s what we all need most — not someone who has lived our exact story, but someone who understands enough to remind us that we don’t have to walk this road alone.

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.