Community

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…

At this year’s Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, researchers and clinicians are talking about the central role of patients, families, and caregivers in driving change for people living with neuromuscular diseases. Bionews, the parent company of this site, sat down with John F. Crowley, president and…

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…

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…

I still remember the phone call as if it were frozen in time. It was mid-morning, and I was in bed feeding my newborn, Caroline. With the shades slightly drawn, just a sliver of light crept in, letting us both cozy up and drift off. Caroline was only a week…

This summer, for the first time, I made a big decision to reach out for help for my oldest son, Cayden, who is 7 and was born with infantile-onset Pompe disease. A nurse attends school with him every day during the school year, but in the past, I’ve declined…

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…