Daily living

While the effects of late-onset Pompe disease on everyday life are far-reaching, there are steps you can take in your daily routine to help ease these difficulties and work around your limitations. It just takes some advance planning, a little bit of creativity, and perhaps some adaptive equipment.

Patients with late-onset Pompe disease (LOPD) usually develop breathing problems as the disease progresses. If you have LOPD, you may eventually need ventilation to aid your breathing. Here is more information about how Pompe affects breathing and about ventilators that may help to ease the disease’s symptoms. How…

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…

Eating and drinking or nursing can pose a problem for patients with Pompe disease. These patients may require feeding tubes to ensure safety and proper nutrition. Here is some information about feeding problems in Pompe disease and options for different feeding tubes. What is Pompe disease? Pompe disease is a…

People with Pompe disease will likely need, at some point, to undergo medical procedures that require anesthesia. Here is information about the different forms of anesthesia, how Pompe disease may complicate its use, and precautions doctors should take. What is Pompe disease? Pompe is a rare genetic disease caused…

Pompe disease is characterized by progressive muscle weakness and disability. A number of adaptive devices are available to maintain patients’ quality of life. What is Pompe disease? Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. This gene contains the instructions necessary…

While late-onset Pompe disease can affect your ability to perform daily tasks, creative problem-solving skills and support can help you live independently for as long as possible. Here is some information that may help you. About late-onset Pompe disease Pompe disease is a rare genetic disease characterized…

Receiving a Pompe disease diagnosis for you or your child can come as quite a shock. But now that you know, you may want to start planning for the future. Types of Pompe disease There are three main types of Pompe disease, each with different ages of onset…

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…