How a Pompe disease diagnosis both tested and transformed our marriage
There's a closeness that comes from standing side by side in a crisis
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My husband and I have been together for 20 years. We met in college, dated on and off, and got married 13 years ago. We decided to wait a few years before having kids so we could enjoy things like traveling, sleeping in on weekends, and having control over our own schedule. Looking back, I realize that we had no idea how easy life really was back then.
Like most newlyweds without kids, we just didn’t know how good we had it.
We had our girls two years apart. Everything seemed to move forward smoothly — until our second daughter, Caroline, was diagnosed with late-onset Pompe disease through newborn screening. To describe what the diagnosis felt like to me, as a caregiver and a mother, imagine being on a scenic train ride. Our life had been like a train journeying through breathtaking landscapes. Yes, there were rugged peaks and deep canyons, but we glided through them with ease and comfort. Then, suddenly, the brakes were pulled, and the train came to a screeching halt. Before us were multiple tracks with switches and gears, all of them taking us in different directions.
In that moment, my husband faced one direction while I looked in another.
Yet, at our core, we both felt the same. We wanted the same things. We wanted answers for Caroline, the best care, and to do the right thing and make all the right choices. There was no doubt we were on the same team. There’s a closeness that comes from standing side by side in a crisis, both of us trying to make sense of something overwhelming.
But as daily routine took over after the diagnosis, our approaches to our new way of life started to shift. My husband began researching everything he could about Pompe disease, wanting to know all possible outcomes and curveballs. He would share this information with me, but I found it overwhelming and scary. I was so caught up in the day-to-day activities of being a caregiver that thinking about what this disease could bring in the future felt paralyzing.
The stress of the disease was changing the way we communicated with each other. Conversations that once felt easy about our children suddenly became transactional. Even when we weren’t talking about Pompe disease, it hovered in the background, shaping our tone, our patience, and sometimes our ability to hear one another.
Processing things differently
There were moments when I felt like we were speaking entirely different languages. I wanted to talk — process everything out loud, revisit conversations with doctors, share every worry that crossed my mind. I was very emotional at doctor appointments, many times forgetting half of the things discussed. I wouldn’t be able to recount them for him at the end of the day. It felt like I was carrying the emotional weight on my own. And he felt like I was disengaged from learning more about what we could do for Caroline.
Recognizing these differences became crucial for us. People respond to trauma differently. On that scenic train of life, when we come to a screeching halt, everyone’s gears and switches work differently to take them down a different track. In this instance, I coped by talking and seeking connection; my husband internalized and focused on what could be done. Neither approach was wrong. Both responses were necessary at the start. Over time, we realized that adjusting our approaches was the most important part of navigating our marriage after diagnosis.
It also required grace — more than I ever expected. I had to let go of the idea that my partner should respond exactly as I would. I recognized that we were both doing our best in a situation neither of us chose. And I began to understand that love, at this point in time, might look less like romance and more like resilience.
A rare disease like Pompe doesn’t just test a marriage — it transforms it. It exposes cracks but also creates opportunities for deeper understanding, for those willing to do the work. It asks couples to redefine their partnership, communicate in new ways, and find connection even when it feels out of reach.
The important thing to keep in mind as you move forward is that, even if you and your partner feel like you’re on different trains, you want to be headed to the same destination. It took ongoing communication and sharing about our individual journeys to realize we were still together in making the right choices for our daughter.
We are not the same couple we were before the diagnosis. In some ways, we’re more fragile. In others, we’re stronger than we ever imagined. And while this journey has challenged us in ways we couldn’t have predicted, it has also taught us that even in the hardest moments, there is still a path back to each other.
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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