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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…

When I was a kid growing up, my mother used to say I was husky. I wasn’t very active, and I rarely found myself exercising. You definitely would not call me athletic — I never could do a pushup, situp, or pullup like the “normal” kids. It was just the…

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…

I was sitting in the small waiting room at UCI Health’s ALS & Neuromuscular Center, in Orange County, California, early on a Monday morning. The date was Nov. 19, 2018, and as I waited for my name to be called, I thought back on the previous six months and…

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…

I remember the day vividly. It was an overcast morning on Saturday, Nov. 17, 2018. My wife and I hopped in the car and headed north toward Marina del Rey, California, giving me an hour to contemplate all the thoughts racing through my mind. A few months earlier, my neurologist…

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…