Daily living

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Children with Pompe disease, like other children with special needs, may benefit from an individualized education plan (IEP; also called an individualized education program). What is an IEP? An IEP, authorized under the federal “Individuals with Disabilities Education Act,” is a plan or program intended to…

Speech therapy is commonly used to help Pompe disease patients, especially those diagnosed with the infantile-onset form of the disease. These patients show symptoms such as difficulty breathing, swallowing, and speech articulation due to weakened facial muscles, an enlarged tongue with poor motor control, and…

Pompe disease is a rare inherited disorder in which mutations in the GAA gene lead to a deficiency in the enzyme alpha-glucosidase. This causes an abnormal buildup of a type of sugar called glycogen in the cells and tissues of the body. A personal health record…

Enzyme replacement therapy (ERT) is the first-line treatment for Pompe disease, a rare genetic disorder characterized by the buildup within cells of a large, complex sugar molecule. That sugar molecule, called glycogen, accumulates within the cells in people with Pompe due to the deficiency of an enzyme called…

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…

Rare genetic diseases such as Pompe disease are difficult to deal with, not only for the patient, but also for caregivers. Here are some tips to ensure you are able to give the best possible care to a person with Pompe disease. Be conscious of your own health Your…

Most patients with juvenile- and adult-onset Pompe disease have difficulties coughing that put them at an increased risk for respiratory problems, but few of them incorporate techniques of pulmonary hygiene into their daily routines, a small study suggests. The study, “Cough Effectiveness and Pulmonary Hygiene…