Powering Through Pompe – a Column by Keara Engle

I attended an in-person educational presentation on Pompe disease this month in Hershey, Pennsylvania, that was hosted by Sanofi, the creator of two drugs that are treatment options for Pompe. I got to hear great information about “Taking Charge of Your Pompe Disease.” Most of the presentation…

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…

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…

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…

If you have a rare disease or are the caregiver of someone with a rare disease, then you’re probably no stranger to research companies reaching out to you. Companies conduct a range of studies and seek out those living with rare diseases to gain more information. While everyone…

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.