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 a long way in ensuring people with Pompe are able to live a full life.
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.
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.
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