Mary Chapman, features writer —

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…

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…

Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Raising awareness about this rare genetic disease could mean more patients would benefit from earlier diagnosis and treatment. Here are some facts about Pompe disease, and efforts to make it…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

Clinical trials can help researchers develop new treatments for disorders such as Pompe disease, which currently has no cure and few options for treating symptoms. Through these trials, scientists gather evidence to support the potential regulatory approval of new and better therapies that may improve the quality of…

Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Because it’s rare, many physicians are unfamiliar with the disease and its treatment. If you or your child has Pompe disease, working with your primary doctor to develop and maintain a…

While Pompe disease can affect the heart, respiratory system, and other functions, its chief symptom is muscle weakness. Exercise and physical therapy can help patients preserve mobility for as long as possible. Following are answers to some frequently asked questions about Pompe disease and exercise. How does…

As the caregiver of someone with Pompe disease, you know how physically and emotionally draining it can be to help your loved one with everyday tasks, partake in activities they enjoy, or — sometimes — to simply move about. A practice called mindfulness may help you cope. What is…

If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning. What do genetic counselors do? Genetic…