Daily living

Imagine getting ready for bed at night. You sit down on the side of your bed with your feet touching the floor. The bedspread and sheets are turned over already, and you lie down on your mattress flat on your back. In that instance, you gasp for air and the…

Our Hawaii vacation was full of activities and adventures every day, but living with late-onset Pompe disease, I didn’t know how my body would respond to all the opportunities to do new things. Would my leg muscles be sore and achy every day? Would I need to…

Recently, we had a weird occurrence. For the first time, we had trouble accessing the port of my 4-year-old son, Cayden, for his infusion. A port is a small device that’s placed under the skin, usually in the chest, for multiple tasks, including blood draws, infusions, transfusions, IV fluids,…

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…

If you’re the parent of a child with a rare disease, or if you have a rare disease yourself, you’re likely accustomed to juggling various appointments with rare disease specialists. My 4-year-old son, Cayden, sees many different specialists due to his infantile-onset Pompe disease. Recently, we had an…

Infusions of enzyme replacement therapy (ERT) are something my 4-year-old son, Cayden, is used to at this point in his life. He started receiving them when he was just 1 month old, shortly after we got news of his diagnosis of infantile-onset Pompe disease through Pennsylvania’s newborn screening…

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…

My 4-year-old son, Cayden, has been receiving multiple therapies every week for years. He started physical therapy when he was an infant, then speech therapy, and eventually occupational therapy. All are important for those with infantile-onset Pompe disease, which Cayden was diagnosed with at just 1 month.

A toddler girl with infantile-onset Pompe disease is able to walk independently and lives with a healthy heart after receiving treatment as a baby, according to researchers who used a combination of early enzyme replacement therapy (ERT) and immunotherapy. Immunotherapy helped tone down the body’s immune…

A few months ago, I had to make the hard decision to pull my 4-year-old son, Cayden, out of his preschool class. It wasn’t easy because I knew how much he enjoyed it. At the time, though, his health was at stake. Cayden has infantile-onset Pompe disease, which…