Health-related quality of life for children with Pompe disease in the Netherlands is generally similar to healthy peers when self-reported, but worse when rated by their parents, a study found. Results also showed that children with classic infantile Pompe had greater fatigue and more limitations than those with non-classic…
fatigue
I remember a day when I could play three softball games on a single, sunny Sunday afternoon in Spokane, Washington. As a valuable left-hander, I was allowed to pitch and spend more time on the mound. Granted, these experiences were in my 30s, and the league was co-ed and affiliated…
Being a parent can be exhausting. Whether the child is a newborn, a toddler, or even a bit older, there are some days when we hear the alarm go off or wake up to our kids crying and mumble, “Just five more minutes, please!” I knew what I was getting…
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…
Being the parent of a special needs child can be difficult in many ways. One challenge is the effect it has on mental health, which makes self-care essential for parents of special needs children. But it also can take a physical toll on the body. One way parents can…
Pompe Disease and Sleep
Pompe disease is a rare, progressive, neuromuscular genetic disorder characterized by muscle damage and weakness. Fatigue, excessive daytime sleepiness, and sleep disturbances are common, especially in the late-onset form of the disease. How Pompe disease may affect sleep As Pompe disease progresses, the abnormal buildup of glycogen — sugar molecules…
Spoon Theory for Late-onset Pompe Disease Patients
If you have late-onset Pompe disease, you’re likely dealing with muscle weakness, aches, and cramps, and possibly headaches and fatigue. Many people may not understand how overwhelming all this can be, and it may not always be easy to explain. However, an analogy called the spoon theory can help…
Warning Signs of Depression in Pompe Disease
Experiencing the symptoms of Pompe disease, a rare genetic disorder resulting in muscle weakness, fatigue, developmental delays, breathing difficulties, and heart problems, can have a profound psychological impact on patients and may even lead to depression. Pompe, characterized by the buildup of a type of sugar called glycogen…
Managing Fatigue in Pompe Disease
Pompe disease is a rare, progressive genetic disorder characterized by the abnormal buildup of a type of sugar called glycogen within the cells. Muscle weakness and fatigue are among the common symptoms of late-onset Pompe disease which can affect daily activities and overall quality of life. Here…
Recent Posts
- Next-generation therapy may help babies with Pompe live longer, better
- I wonder about the questions my daughter hasn’t asked me yet
- TRPML1 activation may boost Pompe ERT effects in new cell study
- How a mother helps her daughter face Pompe disease treatment
- Muscle MRI may detect early changes in late-onset Pompe disease