For people affected by Pompe disease, it can be a challenge to balance daily life with all the considerations that come with managing a chronic condition. Treatment regimens, fluctuating activity levels, dietary needs, the use of assistive devices, and more need to be taken into account in a patient’s day-to-day routine. But educating oneself on Pompe and learning how to adapt to and overcome these challenges can go along way in ensuring people with Pompe are able to live a full life.
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.
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.
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.
Managing late-onset Pompe disease means having to make certain adjustments in your daily life. However, the right strategies, advance planning, and a little creativity can go a long way in helping patients maintain a manageable daily routine.
The use of enzyme stabilizers is being investigated in Pompe disease as way to boost the action of enzyme replacement therapy by helping to stabilize the functional protein/enzyme and enhance its delivery to the tissues.
A number of adaptive devices are available to help people living with Pompe disease. These types of assistive equipment can help maintain quality of life and assist with digestion, breathing, and mobility.
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