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The Travel Bug Has Infected This Pompe Warrior

For 25 years, my vacations had always revolved around visiting family. My wife and I would pack up the minivan and take our four boys to Southern California to visit Grandma. We did all the fun things, such as visit amusement parks and the beach. But the thought of traveling…

How My Children’s Experiences With Newborn Screening Differ

In the United States, every child gets tested for a multitude of rare diseases and conditions at birth. However, each state picks and chooses which rare diseases and conditions they’ll screen for. Pennsylvania, where I live, added Pompe disease to their newborn screening panel in February 2016, a…

Why I’ve Been Feeling Oddly Calm Lately

Living with or caring for someone with a rare disease means that life is often hectic. Between the endless appointments with specialists, infusions and other therapies, getting sick, and other responsibilities, it can feel like there’s barely any downtime. Eventually, one grows accustomed to the lifestyle, which makes things…