parenting

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…

People often ask how my daughter Caroline handles her infusions. The answer changes depending on the season of life we’re in. Sometimes even the day. When Caroline was a baby, accessing her port was so hard. She didn’t understand what was happening — only that strangers held her down…

After my daughter Caroline was diagnosed with late-onset Pompe disease, I never imagined how complicated the idea of stability would become for our family. Before rare disease entered our lives, stability felt simple. It was something you wanted, something you worked toward, and something that brought comfort and peace.

When people hear about in vitro fertilization (IVF) after a rare disease diagnosis, they probably think the hardest part is either the cost or the medical side of things. Those parts are definitely overwhelming. But for me, the hardest part wasn’t the science; it was the question that kept circling in…