Living with Pompe disease
Fact-checked by When you’re living with Pompe disease, the condition affects you daily. However, there are ways to maintain quality of life, particularly for those with late-onset Pompe disease.
Making dietary changes, following an exercise plan, using adaptive equipment, and planning can all improve your daily routine.
How does Pompe disease affect daily living?
There are three types of Pompe disease: classic infantile-onset, nonclassic infantile-onset, and late-onset disease.
Regardless of type, people with Pompe disease lack or have reduced levels of acid alpha-glucosidase, an enzyme that breaks down the complex sugar molecue glycogen. This results in the toxic buildup of glycogen in muscle cells, leading to irreversible damage, including to skeletal and cardiac muscles, which can make daily living difficult.
Infantile-onset Pompe
Classic infantile-onset Pompe disease is the most severe form of the disease, and it typically becomes apparent within the first few months of life, usually around 4 months of age. It is characterized by muscle weakness, difficulty breathing, hearing loss, and cardiomyopathy (disease of the heart muscle).
Nonclassic infantile-onset Pompe disease tends to begin within the first year of life, and symptoms are generally less severe than those of the classic type of the disease. Common signs include progressive muscle weakness, delayed motor development, and problems breathing. Some children may also develop heart problems.
Both forms of infantile-onset Pompe may require adjustments to your child’s daily routine, including:
- regularly scheduling and attending medical and physiotherapy appointments
- changing your child’s diet, the way their food is prepared, or how they are fed
- introducing adaptive devices for mobility, such as a stroller, stander, or wheelchair
- using adaptive devices for breathing, such as a BiPap machine
Late-onset Pompe disease
The majority of people with Pompe have late-onset disease, the symptoms of which usually appear at 1 year of age or in the teenage to adult years. This type of Pompe disease is usually milder and progresses more slowly than the infantile forms.
In both children and adults, late-onset Pompe disease is characterized by progressive muscle weakness, especially in the torso and legs. It can also affect the muscles involved with breathing. Some adjustments to the daily routine may include:
- adjusting work or school hours and responsibilities
- regularly scheduling and attending medical and physiotherapy appointments
- making changes to your diet and the way your food is prepared
- using adaptive devices for mobility, such as a stander or wheelchair
- using adaptive devices for breathing, such as a BiPap machine
Pompe disease treatment options
Standard care for Pompe disease involves lifelong enzyme replacement therapy infusions, usually every two weeks. These infusions help replace the missing or deficient enzyme, slowing the progression of Pompe disease and extending life expectancy.
You may also need other treatments to manage Pompe disease symptoms and improve function in day-to-day life, including:
- pulmonary rehabilitation and breathing care, which supports your lungs and breathing muscles, helping you breathe more easily and prevent infections
- physical and occupational therapy, which strengthen your muscles and provide strategies to maintain mobility, endurance, and daily function
- orthopedic care, which manages joint, spine, or posture problems that can develop from weakened muscles, helping you stay comfortable and active
- nutritional support and speech therapy, which help manage swallowing, digestion, and nutrition issues so that you can maintain energy and a healthy weight
Experimental therapies are also being explored in Pompe, including some based on gene therapy.
Creating a daily routine
A daily routine can help someone living with Pompe disease feel more stable.
Some steps you can take include:
- planning ahead by organizing your day around your energy levels and setting aside time for rest when you need it
- making adjustments at work or school by talking with your employer or teachers about accommodations that can support your needs
- staying active by following an exercise or physical therapy plan that matches your abilities and helps maintain strength
- connecting with others by spending time with family, friends, or support groups to reduce isolation and stay motivated
- exploring enjoyable hobbies by finding activities that are both accessible and meaningful to you
- utilizing adaptive tools that make everyday tasks, such as eating, moving, or personal care, easier and more comfortable
Your routine can change over time as your needs, preferences, and physical limitations evolve.
Adaptive equipment
As Pompe disease affects the muscles, it can become difficult to walk, communicate, eat, and breathe. Adaptive equipment and careful respiratory management can help people with Pompe disease manage those challenges and retain function.
Adaptive equipment for infantile-onset Pompe can include devices for:
- breathing, such as a BiPap machine, or a tracheostomy tube and mechanical ventilation
- eating, such as a nasogastric tube that’s inserted through the nose into the stomach, or a gastrostomy tube inserted through the abdominal wall into the stomach, to deliver food to the infant or child
- mobility, such as orthotic braces, strollers, walkers, wheelchairs, car seats, and standers
- communication, such as picture boards or electronic devices with communication software
- hygiene, such as an adaptive bathing tub and toilet seat
Adaptive equipment for those with the late-onset type can include devices for:
- breathing, such as a BiPap machine, and potentially, mechanical ventilation
- eating, including devices for chopping or puréeing food to make it easier to swallow and, potentially, a gastrostomy or nasogastric tube
- mobility, including orthotic braces, walkers, wheelchairs, or standers
- communication, such as text-to-speech devices
- hygiene, such as shower stools, grab bars for the tub and toilet areas, and elevated toilet seats
Physical therapy and exercise
A physical therapist can develop physical therapy plans for children and adults with Pompe disease in conjunction with the healthcare team.
While your team will create an individualized plan tailored to your needs and fitness level, there are some general guidelines to follow when exercising with Pompe disease.
| Safe exercises | Exercises to avoid |
| Flexibility exercises, such as stretching and yoga | High-impact exercises, such as running and jumping |
| Walking, with the use of aids if needed | Contact sports |
| Swimming or aquatic exercises | Sports that increase the risk of falling, including skiing, skateboarding, or surfing |
| Resistance training, using elastic bands or light weights | Lifting with heavy weights |
| Cycling on a stationary bike |
Diet
Muscle weakness can make it difficult to chew and swallow food, or nurse in the case of infants. However, there are ways to ensure food is both nutritious and easier to swallow and digest.
These include:
- eating small meals throughout the day
- chopping food into small pieces or puréeing it
- moistening the food
- thickening liquids
- sitting upright for an hour or two after eating
- avoiding constipation by eating plenty of fiber and staying hydrated
Some studies have suggested that a high-protein diet containing 25% to 30% protein can slow muscle loss in people with Pompe disease. However, the actual benefits of such a diet are still a matter of debate.
Emotional support
Living with Pompe disease can take an emotional toll on you and your caregivers. Online and in-person Pompe support groups can provide emotional support and offer practical insights and encouragement.
For instance, after Bionews columnist Dwayne M. Wilson was diagnosed at the age of 50 with late-onset Pompe disease, he reached out to Pompe disease groups on Facebook to help cope with the changes in his life.
Since then, he has become an ambassador for the Muscular Dystrophy Association, participating in fundraising events and serving as a motivational speaker.
“I’m really involved in the community, and everything I do is to try to spread awareness about Pompe disease,” Wilson says.
Similarly, another Bionews columnist, Keara Engle, whose son, Cayden, was born in 2018 with infantile-onset Pompe disease, credits Facebook groups with helping her cope with her feelings while caregiving for Pompe disease.
“I consider these folks family now, and that was what my first column was about. There’s nothing that you can’t come to them for. They’ve been there through very hard times when my son was sick and hospitalized and helped me cope with all those emotions,” she says.
Where to find support groups
Many U.S. and international Pompe disease organizations offer support groups for people with Pompe disease and their caregivers.
For example, the Muscular Dystrophy Association lists several mental health and support groups for people living with neuromuscular diseases, including disease-specific support groups offered by MDA Care Centers, as well as online gaming groups and movie nights for children and teens through MDA Let’s Play.
Pompe Disease News also offers information and several resources, including support through its Facebook page.
Life expectancy and palliative care
Pompe disease can affect life expectancy, and this varies depending on the type and severity of the condition. Classic infantile-onset Pompe generally has the greatest impact on lifespan, while many people with late-onset Pompe disease live into adulthood with ongoing care.
As needs change, some families choose to add palliative care to their support plan. Palliative care focuses on comfort, symptom management, and quality of life, and can be helpful at any stage of Pompe disease. Your healthcare team can guide you through these options and help you make decisions that feel right for you and your family.
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.
