parenting

My 4-year-old son, Cayden, had to do a sleep study this month. Although he’s done them before, it’s been over two years since his last one. At his most recent checkup, Cayden’s pulmonary doctor mentioned that he wanted Cayden to do another sleep study to see how things…

My 4-year-old son, Cayden, had a routine checkup with his metabolic specialists during a recent Pompe clinic day. Although we always know what to expect during these visits, that’s both a blessing and a curse. After Cayden sees the doctor and completes a physical therapy session, we then…

Last week, my 4-year-old son, Cayden, had a routine checkup with his pulmonary specialist. These visits occur about every six months. While we are certainly used to the appointments, we left with a great report this time, which isn’t always the case. Cayden’s pulmonologist has been seeing him since before…

Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety. That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care for…

Having a child with a rare disease can certainly be challenging at times, but it doesn’t make us superheroes. We’re often called this by people with typical children or no children at all. The truth is that we’re just like everyone else. We don’t have magical superpowers, nor do…

In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.

I can remember my 4-year-old son’s first surgery like it was yesterday. Cayden was just shy of 2 months old when I watched the anesthesia team wheel away my tiny baby. It was the first of many surgeries for him, but also one of the hardest. We opted to…

While my 4-year-old son, Cayden, is no stranger to specialists, it’s always a bit nerve-wracking to meet a new doctor. No matter how many doctors we see, I always worry that Cayden will be too much for them to take on, due to his infantile-onset Pompe disease. We…

It all starts with the dreaded cough and snotty nose. Next thing you know, you’re rushing your child to the doctor to make sure they’re OK. These days, most parents don’t get too worried about a common cold, unless COVID-19 is a concern. But once that’s ruled out, things…

Recently, I reached out to some other moms in our Pompe family to ask about a concern I’ve had for a while. I’ve noticed my 4-year-old son, Cayden, is complaining of pain more than ever. It’s mainly in his legs, but I assume he gets aches and pains elsewhere.