Tomorrow, my daughter Caroline has an infusion. If you asked her about her summer excitement, she’d talk about the pool. The weather has been beautiful, and we’ve taken full advantage. In these first days of summer, she splashes with friends, races barefoot across the deck, begs for “just five more…
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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.
Something I never expected about raising kids with medical conditions is how much people rely on appearances to decide who is “sick” and who isn’t. Before rare disease became part of our family, I’m sure I did this, too, without even thinking about it. Most of us do. We think…
When my daughter Caroline was diagnosed with Pompe disease, I knew life would look different. I figured our routines would change, our priorities would shift, and our days would suddenly be filled with appointments, infusions, and medical conversations I never imagined I’d have. What I didn’t expect was how…
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…
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…
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…
Recent Posts
- It’s hard on my child when home infusions interrupt summer fun
- MRI scans show different muscle damage in different Pompe types
- Learning to be comfortable with the uncomfortable as a rare disease parent
- New GAA mutations destabilize key enzyme in Pompe disease: Study
- The things people say when they don’t know what to say