quality of life

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a study suggests. Selected outcomes, part of the Patient-Reported Outcomes Measurement Information System (PROMIS), were found to represent the…

Living with a chronic disorder such as late-onset Pompe disease can lead to anxiety, stress, and feelings of isolation. If you have the disease, recreational therapy may help to improve your psychological and physical well-being. What is Pompe disease? Pompe disease is a debilitating and progressive disorder that’s…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Newborn screening for Pompe disease can help improve outcomes for babies and prevent a long diagnostic journey. Following is some information about newborn screening and how it can help the children and their parents. About Pompe disease Pompe disease is a rare genetic disease. It is characterized by…

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…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

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…

Patients with Pompe disease may have to undergo surgery requiring general anesthesia. Below is information about the disease, why patients may need surgery, and the potential risks of anesthesia. What is Pompe disease? Pompe disease is a rare genetic disease caused by a mutation in the GAA…

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…