quality of life

You get the call. It’s rare, they say. Probability is low, statistics meant to comfort. They assure you this doesn’t happen often. But sometimes, despite all the reassurances, rare things happen anyway. When it happened to us, I immediately wondered what I could have done differently. I blamed myself for…

Long-term use of Myozyme (alglucosidase alfa), marketed as Lumizyme in the U.S., helped individuals with late-onset Pompe disease (LOPD) maintain their ability to walk and breathe, while remaining generally safe and well tolerated over 15 years, according to a study in Italy. While responses varied, fewer than expected…

This summer, for the first time, I made a big decision to reach out for help for my oldest son, Cayden, who is 7 and was born with infantile-onset Pompe disease. A nurse attends school with him every day during the school year, but in the past, I’ve declined…

My 7-year-old son, Cayden, started seeing a gastroenterologist (gastrointestinal, or GI, specialist) when he was just a baby. Cayden was diagnosed with infantile-onset Pompe disease when he was 1 month old, becoming the first baby in Pennsylvania to be diagnosed with the condition via newborn screening. After the…

Sean Doerr is sometimes known in the Pompe community as the man with the ambulance-turned-motor home, which he affectionally calls the “PompeTrek.” Sean has Pompe disease and type 1 diabetes. I recently spoke with him via video chat about what it’s like living with these two chronic illnesses. Excerpts…

The past six months with my newest baby boy, Kylan, have been pure bliss — apart from his acid reflux. For the first three months, Kylan was strictly breastfed. Everything was going well with my supply, and he was getting plenty of milk. However, he was constantly spitting up. Kylan…

Often my columns are concerned about my oldest son’s health, given his rare disease. This week, however, I had reasons to worry about and care for my broader family’s health — including my own. Recently, I had to take a break from writing, as I’ve been dealing with some personal…

“The Pompe Community Diaries” is a series that follows the journeys, musings, and challenges of those in the Pompe disease community. This week, I’m introducing Steve Bersani. Steve served as an officer in the Boston Police Department for 30 years before retiring in 2018. He operated in…

In my last column, as part of “The Pompe Community Diaries” series, I introduced 47-year-old Katy Arvidson, who lives with Pompe disease and is the current Ms. Wheelchair Alaska USA. In a recent video chat with Arvidson, we discussed how finding community helped her mentally. Excerpts, edited for…

“The Pompe Community Diaries” is a series that follows the journeys, musings, and challenges of those in the Pompe disease patient community. This week, I’m introducing Katy Arvidson, who is the current Ms. Wheelchair Alaska USA. Katy is wheelchair- and ventilator-dependent because of Pompe disease. She lives in…