treatment

My daughter Caroline has been part of a research study at Duke University since she was just a few months old. Every fall, our family packs up and flies down together. We stay in a hotel, squeeze in as many appointments as we can, and then head home. With fall…

Home infusions of enzyme replacement therapy (ERT) are safe for children with Pompe disease after an initial period of hospital-based treatment, a Dutch study spanning more than 20 years found. Infusion-associated reactions occurred in fewer than 5% of nearly 12,000 infusions, and most were mild. About half of…

I could sense from the moment we woke up that this infusion day was going to be a tough one. Over the past several months, I’ve shared how my 7-year-old daughter Caroline’s relationship with her infusions has been changing. When she was younger, she cried because she was scared…

Electrical impedance myography (EIM), a painless, noninvasive test that sends a small electrical current through a muscle, may help doctors measure the severity of Pompe disease, especially in children, because its results closely match what is seen in MRI and physical tests, according to a study. “EIM may represent…

People often ask how my daughter Caroline handles her infusions. The answer changes depending on the season of life we’re in. Sometimes even the day. When Caroline was a baby, accessing her port was so hard. She didn’t understand what was happening — only that strangers held her down…

Tomorrow, my daughter Caroline has an infusion. If you asked her about her summer excitement, she’d talk about the pool. The weather has been beautiful, and we’ve taken full advantage. In these first days of summer, she splashes with friends, races barefoot across the deck, begs for “just five more…

Two newly identified mutations in the GAA gene, along with a previously known variant of unclear significance, were found to reduce the activity of the enzyme whose deficiency causes Pompe disease, a study has shown. The three variants appeared to produce unstable forms of the enzyme that were prone…

Combining the allergy medicine omalizumab with a desensitization protocol helped a 40-year-old woman with Pompe disease overcome a persistent allergic reaction to enzyme replacement therapy (ERT), according to a case report. People with Pompe disease who experience hypersensitivity, or allergic reactions, to ERT often undergo desensitization, a strategy…

When my daughter Caroline was diagnosed with late-onset Pompe disease as a baby, we started enzyme replacement therapy before her first birthday. I remember spending what felt like endless hours at our children’s hospital, meeting new doctors and nurses, going through test after test. At first, it was…

Certain immune cells in people with late-onset Pompe disease (LOPD) show abnormal activation that may be linked to differences in how patients respond to treatment, a new study suggests. Researchers found that T-cells, a type of immune cell that helps coordinate the body’s response to infections and other threats,…