Pompe disease is a chronic, incurable condition, but those who have it can make adjustments that make their lives better.

The main manifestation of the disease is muscle weakness. It can also affect the heart, breathing and other functions.

Managing different treatments

The standard of care for Pompe disease is life-long injections of enzyme replacement therapy, usually once every two weeks. Patients may also need to see specialists such as pulmonary physicians, cardiologists, and physiotherapists to help them manage the different symptoms of the condition.

Frequent healthcare visits can affect patients’ work and social life. Planning schedules in advance while taking into consideration the possible need for urgent medical care can help patients balance healthcare visits and other facets of their daily life.

Equipment

Adaptive equipment can help those with Pompe overcome the physical challenges the condition causes.

Walking aids, braces, splints, and vehicle adaptations allow patients to maintain their mobility and prevent joint deformity from increasing muscle weakness.

Weakness in the breathing muscles may eventually require patients to use ventilators —  either throughout the day and night, or for short periods.

Special supportive chairs and beds are designed to take pressure off weak muscles and make standing up and getting out of bed easier.

Household modifications such as ramps, larger doors, non-slip rubber mats, a spacious bathroom equipped with handrails, benches and an adapted toilet can make Pompe disease patients’ lives easier as well.

Assistive listening and communicative devices may be needed to help patients with hearing or speech problems. A universal remote control can make it easier for patients to use a television, DVD player, lamps, and other electronic and electrical items.

Nutrition

Weakness in chewing and swallowing muscles can make eating difficult as Pompe disease progresses. Patients may need special foods that are easier to eat but that ensure they meet their daily calorie requirements. Infants with the condition may need a feeding tube inserted through the mouth or directly into their stomach.

Emotional support

Both children and adults with Pompe disease may find it difficult to cope with the changes that occur in their ability to move around, perform tasks such as bathing and dressing, and take part in activities they enjoy. Obtaining counseling, educating family members and friends about the condition, and joining support networks can help patients deal better with these emotional hurdles.

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Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.