caregivers

The diagnosis of a chronic, progressive disorder such as Pompe disease for yourself or a family member can be life-altering. Psychological support can help reduce the added stress and negative emotional impact of such a diagnosis on you and your family. The following will provide some information about the…

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 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 your child has Pompe disease, you may consider enrolling them in the ongoing Pompe disease registry.  Among other things, the information that researchers collect through this registry is likely to help them better understand and treat inherited metabolic disorders like…

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…

Pompe disease can affect both children and adults, and cause symptoms that range from slow growth and poor reflexes to heart and liver problems. Caring for patients with Pompe disease can be challenging and cause stress, so here are some tips if you are a caregiver to help…

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…

Information about rare genetic disorders such as Pompe disease can be hard to find, complicating life for both patients and caregivers. This article offers an easy reference to some of the most commonly asked questions about Pompe disease. What is Pompe disease? Pompe disease is a rare and progressive genetic…

Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.

Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports. The study, “Health utilities and parental quality of life effects for three rare conditions tested in newborns,” was published in the Journal of…