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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.

We’re back in the waiting room at the geneticist’s office. Since my daughter Caroline was diagnosed with late-onset Pompe disease at birth, these appointments have become part of our routine. Today, she’s 7 years old and kneeling on a seat two chairs away from me so she can look…

For me, one of the hardest parts of parenting a child with Pompe disease hasn’t just been learning all the new medical terms or keeping up with appointments. It’s the decisions. The ones that don’t have clear answers. The ones that keep me up at night, long after the…

In this column, I’m introducing what I call “The Pompe Community Diaries,” a series that will follow the journeys, musings, and challenges of the fellow Pompe disease patient community. I’ll collaborate with community members to share their voices and day-to-day experiences over time. It’s a space meant to foster…

My 6-year-old son, Cayden, and I plan to put together a small presentation about his infantile-onset Pompe disease for his kindergarten class later this week, in recognition of Rare Disease Day on Feb. 29. Unfortunately, he’ll have to miss school that day because he’s scheduled to get his…

When I was younger, I never imagined that I’d become a teen mom. I was scared to share with my mom the news that I was pregnant. I didn’t know how she’d react because she’d been a teen mom, too, and that was the last thing she wanted for…

I’m going to be dating myself here, but let’s go for it. Not quite the Stone Age, but around the time “The Flintstones” was on television, I remember watching the “MDA Labor Day Telethon” one year with my parents. I wasn’t sure why we were watching this and not some…

Growing up, I got all my information from newspapers and encyclopedias. I used a typewriter to send letters to friends and family about special occasions. It seemed like it took forever. Then came computers, which changed everything. Information was now accessible as fast as my dial-up modem could connect. Today,…

Having a child with a rare disease can certainly be challenging at times, but it doesn’t make us superheroes. We’re often called this by people with typical children or no children at all. The truth is that we’re just like everyone else. We don’t have magical superpowers, nor do…

When I was a kid growing up, my mother used to say I was husky. I wasn’t very active, and I rarely found myself exercising. You definitely would not call me athletic — I never could do a pushup, situp, or pullup like the “normal” kids. It was just the…