Every fall, I round up my kids for their flu shots. And every time, you’d think I was asking them to endure some sort of medieval torture. There’s bargaining, pleading, and all sorts of creative attempts to get out of it. No one is excited for flu shot day, but…
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As the mother of an 8-year-old with late-onset Pompe disease, I think about her future a lot, but not in an obvious or dramatic way. I’m not always sad or anxious; like any mom, I’m busy getting the kids to school, making dinner, and juggling the chaos of family…
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…
After my daughter Caroline’s Pompe disease diagnosis, our world changed overnight. I was desperate to learn about everything — enzyme replacement therapy, biomarkers, milestones, muscle strength, respiratory function, nutrition, dosages, and lab results. Terms that were once foreign became our daily language. There were appointments, questions, records,…
My daughter Caroline has been part of a research study at Duke University since she was just a few months old. Every fall, our family packs up and flies down together. We stay in a hotel, squeeze in as many appointments as we can, and then head home. With fall…
A few days ago, I stumbled across Caroline’s old infusion backpack tucked away in the far corner of her closet. For a second, I barely recognized it — soft and pastel, the color of cotton candy, and shaped like a unicorn cat — it was so clearly a piece of…
The first day of school is usually about freshly sharpened pencils, new backpacks, and figuring out where to go after lunch. But for my daughter Caroline, the first day this year was about feeling anxious — not just about the first day, but about whether she would make it through…
When people meet my daughter Caroline, they sometimes tell me how lucky she is. They say she is lucky to have such a supportive family. Lucky to have parents who advocate for her. Lucky to have access to the treatment she needs. Lucky to have a sister who looks…
People often tell me they can’t imagine what it’s like to parent a child with a rare disease. I know they mean well. Sometimes they say I’m stronger than they could ever be, or call me a superhero, or wonder how I manage it all. I understand what they’re trying…
After my daughter Caroline was diagnosed with Pompe disease, the question that kept me up at night wasn’t what had happened or how. It was why. Why did this happen to her? Why our family? And why me? I immediately began replaying my pregnancy. My husband and I had…
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- High antibodies limit enzyme therapy in infantile Pompe, study finds
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