Powering Through Pompe – a Column by Keara Engle

Infantile-onset Pompe disease has caused a lot of challenges for my 4-year-old son, Cayden. Until recently, he was never able to communicate with us verbally. We depended on a few different types of nonverbal communication devices and techniques, which I’ve discussed before. But his ability to speak just…

It was nerve-wracking for my son, Cayden, to be the first child in Pennsylvania diagnosed with infantile-onset Pompe disease via newborn screening. It was four years ago, but I still remember it like it was yesterday. Back then, Cayden’s visits felt very unorganized. However, our team of doctors has…

Recently, my 4-year-old son, Cayden, had an appointment with his metabolic specialist. This doctor manages everything related to his Pompe disease and is part of a team of doctors that diagnosed him when he was just 1 month old. They also oversee everything related to his enzyme replacement infusions.

Last week, we took my 4-year-old son, Cayden, to the cardiologist, one of the many specialists who help manage Cayden’s complex medical needs. He has been visiting the cardiologist since he was diagnosed with infantile-onset Pompe disease at just 1 month old. When Cayden was diagnosed, he was already…

Last week, we again had to take my son, Cayden, on the dreaded 2.5-hour drive to Philadelphia. We usually make this trip to see all of Cayden’s specialists, but this time we went to the dentist. Plenty of pediatric dental offices are in our area, but none are very…

I knew having a child meant that I would lose a lot of sleep, but I didn’t realize the extent of it. Most children sleep through the night by age 4, but my son, Cayden, does not. There are many reasons why sleep is challenging for him, but it doesn’t…

This month, we started back up with home-based therapies for my 3-year-old son, Cayden. He receives a few different services, such as physical therapy, occupational therapy, and speech therapy. Each of them is extremely beneficial for Cayden, who has infantile-onset Pompe disease. He has been getting these different…

When I became pregnant with my son, Cayden, at the young age of 15, I knew I had to start working as soon as possible. So, the week before I turned 16, I began my job hunt. Getting hired as a teen can be a challenge in itself, and being…

Last week, I started the dreaded process of potty training my son, Cayden, who turns 4 years old next month. I realize we started this process a bit later than most parents do, but we have our reasons. Cayden has infantile-onset Pompe disease. Some of the symptoms include muscle…

My family had managed to avoid being exposed to COVID-19 until recently. Earlier this month, on the same day I got my vaccine booster shot, I was exposed to the virus by my mom. She woke up feeling very sick the next day, and shortly after that, all…