Misdiagnosis and lengthy diagnostic delays define the experience of many adults living with late-onset Pompe disease (LOPD), a new survey finds. Even after they finally receive a diagnosis, patients continue to face widespread gaps in healthcare provider awareness and communication, alongside insufficient pain management and psychological support. “These exploratory…
pain
The use of a multidisciplinary treatment approach was described in a recent case report of a boy in the U.S. with late-onset Pompe disease (LOPD) and chronic pain. The strategy consisted of orthopedics, physical therapy, and psychosocial therapy. The boy also had behavioral and mood disorders, which could further…
Over the years, I’ve had to make countless hard decisions for my 5-year-old son, Cayden, who has infantile-onset Pompe disease. He’s had surgeries, adaptive equipment, and appointments that haven’t been easy. I guess you could say I’ve gotten used to such decisions over time, but that doesn’t mean…
Last week, my 5-year-old son, Cayden, had a checkup with his metabolic doctors during a clinic day for his Pompe disease. This visit was mostly typical of those events and went about as expected. I was thankful for the good report from his doctors. Further, the physical therapist said…
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.
Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset Pompe disease patients who are using enzyme replacement therapy, a study found. The study, “Small fiber involvement is independent from clinical pain in late-onset Pompe disease,” was published in…
Fatigue, pain, muscle weakness, and breathing difficulties are the most common and highly disabling symptoms of late-onset Pompe disease (LOPD), according to a study that combined data collected from published literature, expert clinician interviews, and patient interviews. In addition, patients reported that mobility problems had the most impact on…
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