parenting

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 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…

Being a mom comes with a heavy mental load. I constantly have a list of tasks running through my mind — all the work I need to do to manage my family’s life. I’m not just thinking about those tasks, but also making plans, remembering events, and carrying the tasks…

Parents face significant anxiety and uncertainty after their newborn screens positive for a lysosomal storage disorder (LSD) like Pompe disease, but these emotions usually resolve over time once families receive clear, comprehensive information, a new study finds. However, researchers warn that this anxiety often persists in parents whose children…

A man was diagnosed with late-onset Pompe disease (LOPD) after prenatal genetic counseling, even though he exhibited no symptoms. “This example stresses the importance of pretest consultation and the relevance of clinical and ethical implications during prenatal genetic testing for the whole family group,” scientists wrote. His condition was…

I have always struggled with my weight. In elementary school, I remember visiting a nutritionist and coming up with a diet plan. Over the years, I’ve tried multiple times to implement a diet and exercise regimen, but I could never seem to stick to it. Now, I’m taking things a…

The past six months with my newest baby boy, Kylan, have been pure bliss — apart from his acid reflux. For the first three months, Kylan was strictly breastfed. Everything was going well with my supply, and he was getting plenty of milk. However, he was constantly spitting up. Kylan…