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In some alternate reality, receiving my diagnosis of late-onset Pompe disease would’ve made all my problems go away. But in this universe, my rare disease is only one piece in the puzzle of my life. Six months before my diagnosis, our oldest son, Adam, passed away at age…

A few weeks ago, my 4-year-old son, Cayden, had a rare occurrence in which the implanted port in his chest stopped working. It was a scary situation and the first time it had ever happened. The port is necessary because Cayden receives biweekly enzyme replacement infusions of Nexviazyme…

For my diagnosis day celebration last week, I indulged and had a doughnut. We also celebrated Thanksgiving early with some apple and pumpkin pie. I really do enjoy eating desserts. But when I received my diagnosis of late-onset Pompe disease four years ago, I learned I needed…

When you have a child with a rare disease, it can be difficult to find people who are both comfortable and willing to care for them. It’s been a challenge to find people I trust enough to watch my 4-year-old son, Cayden, who has infantile-onset Pompe disease. Cayden…

As a society, we celebrate birthdays, anniversaries, and births. Some celebrate when their son or daughter goes to college or gets married. Others might do a happy dance when their team wins the World Series or Super Bowl. Personally, I celebrate the day I was diagnosed with a rare disease.

Over the years, our family has become quite familiar with various types of medical and adaptive equipment. My 4-year-old son, Cayden, has used several medical and adaptive devices to help make his life with infantile-onset Pompe disease a bit easier. However, like any kid would, he eventually outgrows…

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…

At my 4-year-old son Cayden’s last appointment with the otolaryngologist (ears, nose, and throat doctor, or ENT), the doctor and I decided that we should look into getting a new set of tubes for Cayden’s ears. Cayden, who has infantile-onset Pompe disease, showed signs of mild hearing loss during…

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,…