Living with Pompe disease

Muscle weakness and fatigue can make dressing difficult with Pompe disease. Adaptive clothing offers simple, comfortable solutions — like soft fabrics and easy fasteners — to help reduce strain and support independence.

Pompe disease gradually progresses, with symptoms worsening at different rates depending on the type and severity. Early intervention, treatment, and supportive care can help manage symptoms and enhance quality of life.

Pompe disease, a rare genetic disorder caused by GAA gene mutations, leads to glycogen buildup and muscle weakness. Experts estimate 5,000 to 10,000 cases globally, though the true number may be higher.

Late-onset Pompe disease typically begins after 1 year of age through to adulthood and is characterized by symptoms that include slowly progressive respiratory problems and skeletal muscle weakness.

Managing school or work with Pompe disease requires thoughtful planning, tailored accommodations, and support from educators and employers to help individuals thrive while balancing their health.

Although ERT can be an effective therapy for slowing the progression of Pompe symptoms, there are some challenges and limitations associated with the treatment, and patient responses can vary.

ERT for Pompe disease provides a person’s cells with a working version of the GAA enzyme, meaning glycogen molecules can be broken down, helping to counteract the toxic buildup of glycogen that occurs with the disease.

For people with Pompe, regular exercise and physical therapy can help preserve muscle strength and flexibility. It also can slow disease progression to help maintain independence.

With proper advance planning — including arranging access to medical care, managing mobility, and other potential issues — people with LOPD can still enjoy memorable adventures.

A common symptom of late-onset Pompe disease, fatigue can have a significant impact on daily life, but there are strategies you can try to help manage fatigue and maintain your overall energy levels.

One of the possible symptoms of late-onset Pompe disease is breathing difficulties and other respiratory challenges, which may be treated by a combination of pulmonary rehabilitation, regular exercise, medication, and lifestyle changes.

Making lifestyle changes — such as exercising safely, eating a well-balanced diet, and using assistive equipment when needed — can have a positive effect on how you feel and enhance your quality of life.

There are some reproductive options people with Pompe may want to consider before getting pregnant, including personal genetic screening, along with in vitro fertilization and genetic analysis.

Pompe support groups provide the opportunity to connect with others in a similar situation, offering emotional support and friendship, practical advice about disease-related difficulties, and useful resources.

People with Pompe benefit from the same types of exercise as the general population; however, they should avoid very intense exercise due to the potential of muscle damage. Physical therapist Tracey Boggs gives us the scoop on exercise for the Pompe patient.

In 2018, Dwayne Wilson was struggling under the weight of a Pompe diagnosis. Today he is living life to the fullest. Learn how he adjusted his thinking and adapted his life to thrive with Pompe disease.

The Pompe disease inheritance pattern is known as autosomal recessive, which means that the rare disorder will only develop in individuals who have mutations in both copies of the GAA gene.

While there is no one specialized Pompe disease diet, research suggests certain approaches, such as a high-protein diet that includes meat, fish, eggs, and dairy, as well as some plant-based sources such as beans and leafy greens, may be beneficial for Pompe patients.

Pompe disease adds a new dimension to daily living, but there are some steps that patients and caregivers can take to help maintain quality of life, including dietary changes, following a specific exercise plan, using adaptive equipment, and planning ahead.

For most people with Pompe, enzyme replacement therapy is a lifelong treatment. As such, patients should consider how ERT sessions will fit into their daily routine, and how and when to get to the healthcare clinic for infusions.