Macroglossia, or an abnormally enlarged tongue, caused difficulty swallowing, speech abnormalities, and reduced breathing during sleep for five people with late-onset Pompe disease (LOPD), according to a recent French study. Treatment with enzyme-replacement therapy (ERT), a standard of care for Pompe patients, did not alleviate the debilitating symptoms,…
gastrostomy
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We’ve Found the Right Dentist
Last week, we again had to take my son, Cayden, on the dreaded 2.5-hour drive to Philadelphia. We usually make this trip to see all of Cayden’s specialists, but this time we went to the dentist. Plenty of pediatric dental offices are in our area, but none are very…
A rare disease is not always visible. Just because someone may look “fine” on the outside doesn’t mean that they don’t have struggles they face daily because of their disease. Pompe disease is one of those diseases. Pompe disease can onset any time throughout a person’s…
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Pompe Disease and Surgery
Patients with Pompe disease may have to undergo surgery requiring general anesthesia. Below is information about the disease, why patients may need surgery, and the potential risks of anesthesia. What is Pompe disease? Pompe disease is a rare genetic disease caused by a mutation in the GAA…
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