Living with Pompe disease

Last updated March 29, 2023, by Susie Strachan
Fact-checked by Patricia Silva, PhD

For people living with Pompe disease, the condition has an effect on their daily lives, as well as the daily lives of their caregivers and family.

There are actions that can help with maintaining quality of life, particularly for those with late-onset Pompe disease. Making dietary changes, following a specific exercise plan, using adaptive equipment, and planning ahead can all have a positive effect.

Standard care for Pompe disease is lifelong infusions of enzyme replacement therapy (ERT), 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.

Bionews columnist Keara Engle, whose son Cayden was born in 2018 with infantile-onset Pompe disease, said being a mom of a child living with Pompe disease is a demanding task, but something she’s dedicated to doing.

“You have to plan your life around infusions, therapies, appointments, etc. These things are never ending for someone with Pompe,” Engle said, adding that Cayden received his diagnosis one month after birth and now gets enzyme replacement infusions approximately every two weeks.

Dwayne M. Wilson, who was diagnosed at the age of 50 with late-onset Pompe disease, said his philosophy is to keep “moving forward,” while fitting treatment around full-time employment and his family life.

“Living with Pompe disease, there are highs and lows, but it’s always about just moving forward and enjoying life to the fullest, and I’m living my best Pompe life,” said Wilson, who is a Bionews columnist and Muscular Dystrophy Association ambassador.

How does Pompe disease affect daily living?

Pompe disease is a rare genetic condition with three types: classic infantile-onset, nonclassic infantile-onset, and late-onset disease.

People with Pompe disease have dysfunctional or absent acid alpha-glucosidase (GAA) enzyme, a protein that is responsible for the breakdown of a complex sugar molecule called glycogen. This results in a build-up of glycogen in muscle cells, leading to irreversible damage, including to skeletal and cardiac muscles.

The estimated incidence of Pompe disease varies in different locations and among ethnic groups. In the U.S., Pompe disease affects about 1 in 40,000 people, although the rate is higher — at 1 in 14,000 — among African Americans. Among people of European descent, late-onset Pompe affects 1 in 60,000 people, and infantile-onset Pompe affects 1 in 100,000 people. In southern China and Taiwan, the incidence of Pompe disease has been estimated at 1 in 50,000 people, while in Australia, the estimated incidence is 1 in 145,000.

Classic infantile-onset Pompe disease usually becomes apparent before an infant reaches 4 months of age and 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 the classic type of the disease, including progressive muscle weakness, delayed motor development, and problems breathing.

Both forms of infantile-onset Pompe may require:

• careful planning to schedule and attend medical and physiotherapy appointments
• changes to diet or the way food is prepared and fed to the infant or child
• adaptive devices for mobility, such as a stroller, stander, or wheelchair
• adaptive devices for breathing, such as a BiPap machine.

Late-onset Pompe disease is diagnosed after 1 year of life, in both children and adults and is characterized by progressive muscle weakness, especially in the torso and legs.

Late-onset Pompe disease may require:

• changes to work-life balance, or education
• scheduling and attending medical and physiotherapy appointments
• changes to diet and the way food is prepared
• adaptive devices for mobility, such as a stander or wheelchair
• adaptive devices for breathing, such as a BiPap machine.

Pompe disease treatment options

Treatment options include ERT, as well as treatment of the pulmonary, neuromuscular, orthopedic, and gastrointestinal symptoms, to slow the progression of the disease.

ERT involves intravenous (into-the-vein, IV) infusions of recombinant human GAA (rhGAA), usually administered every two weeks.

Two ERT medications are available for patients in the U.S.:

• Lumizyme (alglucosidase alfa) was the first ERT for Pompe disease to be approved in the U.S. in 2010. Outside the U.S., it’s marketed under the name Myozyme.
• Nexviazyme (avalglucosidase alfa) is a next-generation treatment developed with the aim of delivering the GAA enzyme to muscle cells more effectively than Lumizyme. In the U.S., Nexviazyme is approved to treat late-onset Pompe disease in patients ages 1 and older. It’s also approved in other markets, though specific indications may differ.

A third option also is available that combines an ERT with an enzyme stabilizer: Pombiliti + Opfolda (cipaglucosidase alfa/miglustat). This therapy is approved for adults with late-onset Pompe disease.

A number of experimental therapies are being explored in Pompe, including some based on gene therapy. Gene therapy for Pompe disease aims to deliver a healthy copy of the GAA gene to the body’s cells, allowing them to produce a functional GAA enzyme.

Creating a daily routine

A daily routine can help someone living with Pompe disease feel a sense of stability.

This can involve planning ahead, strategizing, making adjustments at the workplace and in workload, exercising, socializing, trying hobbies that are accessible and enjoyable, along with the use of adaptive equipment.

It is estimated about 75% of patients have late-onset Pompe disease, which may be diagnosed after the first year of life or in the teenage to adult years. This type of Pompe disease is usually milder and its progression slower than that of the infantile forms.

A daily routine can evolve over time, depending on the person’s needs, preferences, and physical limitations.

Wilson said he’s figured out what works for him since his diagnosis. This might include going to the office or working from home, depending on the day of the week, and finding time to exercise.

“I do my own form of routine. I like to try different things. I go to the gym, although during the pandemic, the gyms were shut down. Where I live, there’s a pool, so I could substitute doing walking laps in the shallow end,” he said.

Like most young children, Engle’s son Cayden benefits from a daily routine. Along with regular meals, bath times, and bedtime routines, Engle has to keep track of his healthcare appointments and ERT infusions.

“I use the notes app on my phone to write down upcoming appointments,” she said, adding she’s had to learn other strategies to help her son cope with variations in routine.

For example, as Cayden is shy around new people, a change in healthcare providers means she has to talk him through this, she said.

Adaptive equipment

As Pompe disease affects the muscles, this can make it hard for individuals to walk, talk or communicate, eat, and breathe. This is where the use of adaptive devices can aid those with the infantile-onset and late-onset forms of the disease.

Adaptive equipment for those with the infantile-onset type can include devices for:

• breathing, such as BiPap machine, or a tracheostomy tube and mechanical ventilation
• eating, such as nasogastric tube (through the nose to the stomach), or gastrostomy tube (G-tube) through the abdominal wall to 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 text-to-speech devices, picture boards
• 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 BiPap machine, and potentially, mechanical ventilation
• eating, including chopping or pureeing food to make it easier to swallow, and potentially, a gastrostomy or nasogastric tube
• mobility, including orthotic braces, walkers, wheelchairs, or standers
• communication, including speech therapy and text-to-speech devices
• hygiene, such as shower stool, grab bars for the tub and toilet areas, and elevated toilet seat.

Engle said Cayden uses a wheelchair for mobility.

“He also has a stander to help him get in the standing position and stretch his muscles since he’s unable to stand on his own. We use AFO [ankle foot orthotics] braces on his feet to help stabilize his feet and ankles while standing,” she said.

“For communication we have used an Eyegaze device, as well as an iPad. He used these until about age 4.5 when he really started talking. I do find these devices helpful, but he doesn’t enjoy them all. The equipment is also big and takes up a lot of space in the home.”

Wilson uses a hiking stick to help maintain his balance when walking. He has a 50-pound electric, “fold-n-go” wheelchair he nicknamed the “Dolphinator” for longer treks and other activities, in order to conserve energy.

“I use it because it’s a comfortable place to sit, when I go to sporting events or a concert, where I have to sit for three hours for a baseball game or two hours for a concert,” he said, adding that he’s 6 foot 5 inches tall, which makes most normal seats uncomfortable.

Both Wilson and Cayden use a BiPap machine at night to help with breathing.

Cayden had a gastrostomy feeding tube (G-tube) placed when he was 6 months old, and all his food is put through a blender to ensure a smooth consistency.

“He gets real food through his tube but it just gets blended first, or we use packaged, already blended meals. Individuals without a feeding tube eat a pretty typical diet. Duke University passed out an informational paper at the pediatric conference a few years ago recommending a high protein, lower carb diet, but besides that, his diet is pretty typical,” Engle said.

She was delighted when Cayden showed an interest in tasting and taking small bites of solid food, in the hopes of one day getting rid of the G-tube.

Physical therapy and exercise

Exercise plans for children and adults with Pompe disease should be devised by a physical or occupational therapist, in conjunction with the person’s healthcare team. As everyone is different and has different interests and goals, the plan should fit the individual.

Keeping an active lifestyle and participating in mild to moderate exercise is important for people with late-onset Pompe disease, as such strategies can help individuals to better cope with the disease and preserve muscle strength.

Some of the recommended exercises are:

• stretching exercises, including yoga
• walking, with the use of aids if needed
• swimming or aqua therapy
• cycling, including on a stationary bike
• strength training, using light weights
• resistance training.

Care should be taken to avoid overexertion and muscle damage. As there is a risk of falling, the mode of exercise can be modified for safety.

Engle’s son Cayden has been receiving physical therapy services since he was a baby.

“His sessions range anywhere from 30 minutes to one hour. We don’t follow a specific exercise program but the therapist does give me exercises to do with him at home,” she said.

Wilson initially worked with a physiotherapist after he was first diagnosed. He said it can be tricky to find a physical therapist who understands how to work with a person with a neurological or neuromuscular condition, like Pompe disease.

His favorite activity is walking on the beach near where he lives in California. In the recent past, he’s also enjoyed snorkeling and indoor rock climbing.

“I prefer to go with my interests. I’ve learned to pay attention to my body. I might be sore two or three days after doing something, which is OK. If I’m still sore a week later, then I know I overdid it and need to stop doing that exercise,” he said.

Diet

Muscle weakness for someone with Pompe disease can make it difficult to chew and swallow food, or nurse, in the case of infants. There are a number of strategies used 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 pureeing
• 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 (with 25% to 30% protein) can slow the loss of muscle mass in people with Pompe disease; however, the actual benefits of such a diet are still a matter of debate. More recent studies do indicate that, when combined with an adequate exercise plan and enzyme replacement therapy, a high-protein diet can be of benefit.

Carbohydrate consumption should be spaced out in small, frequent portions throughout the day to reduce the build-up of glycogen, while avoiding low blood sugar.

Emotional support

Living with a rare and chronic condition such as Pompe disease can take an emotional toll on patients and caregivers. Online and in-person groups and therapy can provide emotional support and offer practical insights and encouragement.

After receiving his diagnosis, Wilson reached out to Pompe disease groups on Facebook to help cope with the changes in his life. Since then, he’s gone on to become an ambassador with the Muscular Dystrophy Association, taking part in fundraising events, and acting as a motivational speaker.

“I’m really involved in the community, and everything I do is to try to spread awareness about Pompe disease. And people know me by my T-shirts, like this one that says, ‘Not today, Pompe’ on it,” Wilson said.

Engle also credits Facebook groups in helping to cope with her feelings about caring for her young son, and connecting with other rare disease patients and parents.

“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 said. “I do lean on friends and family for support as well, but they don’t get it quite like the people in the support groups do.”

Most U.S. and international Pompe disease organizations offer support groups. For example, the Muscular Dystrophy Association in the U.S. lists a number of mental health and group supports for people living with Pompe disease:

• online therapy services such as Amwell, Talkspace, BetterHelp, and Open Path Collective
• disease-specific support groups offered by MDA Care Centers
• online gaming groups and movie nights for children and teens via MDA Let’s Play.

The Pompe Disease News website also offers information and several resources, including support through its Facebook page.

Life expectancy and palliative care

Pompe disease affects life expectancy according to the type and severity of the disease. There are a number of factors affecting life expectancy for people with Pompe disease, including:

• type of Pompe disease
• cardiac issues
• respiratory issues
• treatment effectiveness
• lifestyle.

The type of Pompe disease has the highest effect on life expectancy. Children with classic infantile-onset have the shortest life expectancy, while those with late-onset Pompe disease have the longest.

As the disease progresses, decisions about the future of care have to be made, including about hospice care, palliative care, and end-of-life care.

These decisions can be overwhelming for a person with Pompe disease or their caregiver. The healthcare team may suggest involving family and friends for support, and provide reminders that all decisions do not have to be made at once, and can be changed.

Palliative care can be done in the community or in a hospital setting. Family-centered care is a priority during palliative care, highlighting shared decision making, desired locations of care, and easing the end of life for children who die at home.

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.