A genomic medicine designed to correct the genetic defect found in up to 90% of people with late-onset Pompe disease (LOPD) worked as intended in patient-derived muscle cells and a mouse model, according to a study. The study, “Splicing correction by peptide-conjugated morpholinos as a novel…
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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…
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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