symptoms

Stem cell-mediated gene therapy normalized glycogen build-up in muscle, heart, and brain tissue of a Pompe disease mouse model, a study shows. Treatments also restored cellular defects and motor impairment associated with the condition. The researchers recommended stem cell-based gene therapy as a candidate for future clinical development. The…

I attended an in-person educational presentation on Pompe disease this month in Hershey, Pennsylvania, that was hosted by Sanofi, the creator of two drugs that are treatment options for Pompe. I got to hear great information about “Taking Charge of Your Pompe Disease.” Most of the presentation…

A number of enzymes involved in synthesizing glycogen – the molecule that accumulates to toxic levels in Pompe disease – are elevated in a mouse model of the disease and these metabolic changes may contribute to the disease’s progression, a study found. In fact, the buildup of these proteins…

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…

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…

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…

A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…

It all starts with the dreaded cough and snotty nose. Next thing you know, you’re rushing your child to the doctor to make sure they’re OK. These days, most parents don’t get too worried about a common cold, unless COVID-19 is a concern. But once that’s ruled out, things…

Recently, I reached out to some other moms in our Pompe family to ask about a concern I’ve had for a while. I’ve noticed my 4-year-old son, Cayden, is complaining of pain more than ever. It’s mainly in his legs, but I assume he gets aches and pains elsewhere.

The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset Pompe disease (LOPD) — are increased in muscle samples from LOPD patients relative to healthy people, a small study shows. Autophagy is a pathway by which cells break down damaged…