Kate’s Take on Rare Care - a Column by Kate Manger

When my daughter Caroline was diagnosed with late-onset Pompe disease as a baby, we started enzyme replacement therapy before her first birthday. I remember spending what felt like endless hours at our children’s hospital, meeting new doctors and nurses, going through test after test. At first, it was…

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…

Our family spent last week in Florida for spring break. We skipped the theme parks and wild adventures this time, choosing instead to stay at a hotel by the beach. The kids loved bouncing between the pool and the ocean, and we all got a chance to slow down and…

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…

When my child was diagnosed with Pompe disease, I realized pretty quickly that understanding the condition was just one part of what we faced. The other part was explaining it to everyone — family, friends, teachers, other parents at the playground, even strangers who noticed something and asked questions…

When a child is diagnosed with Pompe disease, they’re not the only person affected. The disease changes everything for the entire family. Suddenly, schedules and priorities shift. One of the hardest things for me as a parent was figuring out how to talk to my other children about what…

When our daughter Caroline was diagnosed with Pompe disease through newborn screening in 2018, our world turned upside down. We were suddenly lost, searching for answers amid a flood of tests, labs, and medical opinions. We chose to start enzyme replacement therapy (ERT) within her first 12 months.

When my child was diagnosed with Pompe disease, my whole world changed in an instant. Suddenly, I wasn’t just a parent; I had to learn how to be a researcher, a scheduler, an insurance negotiator, a medication manager, and, most of all, an advocate for my child. I always…

Talking about mental health isn’t the easiest thing to do. Sharing our feelings can be uncomfortable, and asking for help may seem like exposing a part of ourselves we’d rather keep hidden. I’d always shared my feelings openly and leaned on family and friends. For a long time, I thought…

You get the call. It’s rare, they say. Probability is low, statistics meant to comfort. They assure you this doesn’t happen often. But sometimes, despite all the reassurances, rare things happen anyway. When it happened to us, I immediately wondered what I could have done differently. I blamed myself for…