parenting

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…

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…

When people meet my daughter Caroline, they often call her brave. They see a little girl enduring enzyme replacement therapy every other week, the port in her chest, long infusion days, doctor’s appointments, blood draws, and tests. She smiles through experiences that would make most adults cringe, and people…

Enzyme replacement therapy for Pompe disease — a standard treatment for the rare genetic condition — can be safely continued during pregnancy and breastfeeding, a new study indicates. In the small European study, the use of any of several approved treatments did not result in adverse effects in the…

I could sense from the moment we woke up that this infusion day was going to be a tough one. Over the past several months, I’ve shared how my 7-year-old daughter Caroline’s relationship with her infusions has been changing. When she was younger, she cried because she was scared…

When your child is diagnosed with Pompe disease, it’s like being caught in a storm of information. Suddenly, you’re overwhelmed with medical terms, appointments, and emotions. I remember feeling like I was trying to drink from a firehose. It took me months, perhaps years, to…