People with infantile-onset Pompe disease (IOPD) may develop breathing issues during nighttime sleep even if they start enzyme replacement therapy (ERT) very early in life and don’t show obvious declines in daytime respiratory function or motor abilities, a long-term study in Taiwan suggested. Researchers who followed 16 people…
Discussion
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…
Discussion
Newborn screening (NBS) for Pompe disease in North Carolina identified more babies with presumed late-onset Pompe disease (LOPD) than previous estimates suggested, a study found. Among more than 228,000 newborns screened over 20 months, 52 tested positive for possible Pompe. After additional testing, about one-third were ultimately classified…
Becoming educated and informed about Pompe is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnist’s words of wisdom to help you along on your Pompe journey.
There is no cure for Pompe yet, but there are treatments that can help manage the disease. Learn more about current therapeutic approaches here.
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