awareness

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 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…

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…

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…

My 6-year-old son, Cayden, absolutely loves going to school. He’s doing exceptionally well in first grade. A few weeks ago, during routine testing, Cayden received the highest scores in the entire class. I’d be lying if I said I didn’t brag a little to friends and family about the high…

After attending new student orientation at my 6-year-old son Cayden’s new school a few weeks ago, we eagerly anticipated the first day of classes. Now that he has officially completed the first week of first grade, we have lots of great updates to share. Every day when Cayden arrived…

I was recently confronted with some scheduling issues. While it’s not the first time this has happened, it’s also not very common. I was on my way to the lab to take my glucose test for my current pregnancy when I received a text from our home nursing agency’s case…

A few days ago, my 6-year-old son, Cayden, woke us up with quite a surprise. We were getting everything ready for his biweekly enzyme replacement infusion, the treatment for his infantile-onset Pompe disease. When I woke up Cayden that morning to get him prepared for the day…

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…