Your daily routine with late-onset Pompe disease
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The effects on everyday life of late-onset Pompe disease, which typically begins during childhood or adulthood, are far-reaching. Nonetheless, certain strategies, when applied to an individual’s daily routine, can help ease these difficulties and work around a patient’s limitations.
Some advance planning and creativity, and in some cases adaptive equipment, might be required.
Pompe disease is a rare genetic disorder characterized by the buildup of a sugar molecule, called glycogen, inside cells. This buildup of glycogen can impair the function of different organs and tissues, especially the heart, and respiratory and skeletal muscles.
How can LOPD affect a patient’s daily routine?
There are three Pompe disease types: classic infantile-onset form, non-classic infantile-onset form, and late-onset form.
It is estimated about 75% of patients have late-onset Pompe disease (LOPD), which may be diagnosed and first appear in late childhood (after the first year of life), or even in the teenage or adult years. This type of Pompe disease is usually milder and its progression slower than that of the infantile forms.
Muscle weakness, especially in the torso and legs, is often a key symptom of LOPD. As the disease progresses, patients may find daily activities to become increasingly challenging. There may difficulties in walking, standing, running, or climbing stairs.
Weak muscles surrounding the spine may lead to scoliosis, seen as an unusual side-to-side curvature, in LOPD patients. Individuals with late-onset Pompe also may experience muscle cramps, headaches, and severe fatigue. Respiratory problems, due to weakness of the muscles required for breathing, also may develop.
Learn new strategies
LOPD affects each patient differently. Before implementing any new strategy or lifestyle change to help cope with the disease, LOPD patients are advised to discuss their plans with their healthcare team. Together, doctors and patients can decide which options might be more beneficial in a particular case.
The main goal is to help patients live independently for as long as possible — and for them to be able to participate in activities they enjoy.
The support of healthcare teams, but also family and friends, is important for the adoption of new care strategies. In general, depending on the disease symptoms and their severity, different strategies can apply to make everyday activities more manageable. These include:
- planning ahead
- using adequate assistive equipment
- making adjustments at the workplace and in workload
- staying active and exercising
- being socially active and having hobbies
- practicing meditation.
It also is important to note that these strategies may evolve over time, depending on the patient’s needs, preferences, and physical limitations.
Plan ahead
Planning activities in advance, and allowing extra time to complete them, can be of help to patients living with Pompe disease.
For example, preparing meals in advance or setting out clothing the night before might make the morning routine less stressful. Allowing adequate time for needed travel also may help ease stress.
Frequent healthcare visits can affect one’s work and social life. Planning schedules in advance, while taking into consideration the possible need for urgent medical care, can help LOPD patients and caregivers to balance healthcare visits and other aspects of daily life.
Use special equipment whenever needed
Several adaptive devices are available to help LOPD patients maintain their quality of life and ease daily life tasks. These include:
- adaptive equipment to assist in mobility, such as canes, walkers, wheelchairs, and power scooters, as well as ramps and stair lifts
- orthotics to prevent deformity, including ankle-foot orthosis and finger splints
- adaptive devices or aids to help in basic hygiene and bodily care, including grab bars to safely get in and out of the shower, nonslip mats, benches, and elevated toilets or raised seats
- devices, including feeding tubes, that help patients receive proper nutrition
- tools to help improve communication, such as picture boards or technical communication aids like text-to-speech programs
- devices that offer respiratory support to ease breathing issues.
Adjust the work
Given the physical limitations that LOPD patients can experience, workplace adjustments might be needed. Patients are encouraged to speak to their employers about adaptions that my help. The Job Accommodation Network, offered through the U.S. Department of Labor, can help with questions about workplace accommodations.
Moreover, patients should evaluate their workload, and if necessary reduce work hours or adjust their schedules to offset times of the day when fatigue levels are higher.
Keep moving
Apart from treatment with medication, and specifically enzyme replacement therapy, evidence suggests a combination of aerobic, resistance, and core stability exercises offers benefits to Pompe disease patients. Such exercise may particularly benefit those who are ventilator-free and able to walk.
Engaging in mild to moderate exercise, and keeping an active lifestyle, should be part of the regular routine for LOPD patients, as such strategies can help individuals to better cope with the disease and preserve muscle strength. Some of the exercises recommended are:
- stretching exercises
- walking
- swimming
- cycling
- strength training
- resistance training.
Exercise plans should be created under the supervision of the patient’s healthcare team, including a physiotherapist, and started and extended gradually. Overly strenuous exercises should be avoided, as they may cause more physical damage.
Combining exercise training with a high-protein diet for LOPD patients taking Lumizyme (alglucosidase alfa) could improve exercise tolerance, pulmonary function, and quality of life, a 2020 study showed.
Maintain your interests
Studies have suggested that being socially active and engaging in interpersonal relationships may improve the quality of life of people with LOPD.
It is important to one’s overall well-being to maintain interests, hobbies, and social activities as part of a regular routine. Nurturing friendships and participating in fun activities also can have a positive impact on a person’s mental health.
Consider meditation
Research has shown that the practice of meditation can have a positive effect on patients’ experience with chronic illnesses, such as Pompe disease. Meditation has been suggested to reduce anxiety, depression, stress, pain, and sleep disturbances, and to enhance mood and self-esteem. LOPD patients should therefore consider incorporating meditation into their daily routine.
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.
FAQs about LOPD and daily routine
Late-onset Pompe disease, a disease form that may also be referred to as juvenile/adult-onset Pompe disease, is when symptoms begin later in life (after the first year of life), during childhood or adulthood. In general, people with late-onset Pompe tend to have less severe disease manifestations and a slower disease progression.
In the U.S., Pompe disease is estimated to affect one of every 40,000 people, although the disease incidence varies among different ethnic groups. A study in the Netherlands reported an incidence of one in 57,000 newborns per year for late-onset Pompe disease, and one in 138,000 for infantile-onset disease, with a combined Pompe incidence of one in every 40,000 people as well.
Late-onset Pompe disease symptoms typically include progressive muscle weakness, especially in the torso and legs. Patients may develop gait disturbances, and have trouble when they need to stand, run, or climb stairs. Scoliosis, an unusual side-to-side curvature of the spine, also may develop, and respiratory problems and frequent lung infections may occur. Patients with late-onset disease also may experience profound fatigue, chronic pain, headaches, trouble hearing, and digestive issues.
Late-onset Pompe disease patients are encouraged to engage in mild to moderate exercise, as it can both help preserve muscle strength and help the individual better cope with the disease. Recommended exercises include stretching, walking, swimming, strength and resistance training, and evidence suggests that a combination of aerobic, resistance, and core stability exercises offers benefits to Pompe disease patients. Importantly, any exercise plans should be made together with the patient’s healthcare team. Strenuous exercises should be avoided as they may cause more physical damage to the patient.
People with late-onset Pompe disease can have children, as the disease is not thought to affect fertility. However, patients are advised to seek genetic counseling before planning a pregnancy to better understand the chances of having a baby with the disease. Women with late-onset Pompe disease, in particular, can also face some extra health concerns, such as weight gain, which can further complicate already existing muscle weakness and breathing issues, and having a longer postpartum recovery period. Additionally, some patients they may not be physically able to carry or nurse a newborn without help. Late-onset Pompe disease patients are advised to explore family options with their healthcare providers to make the best-informed decisions.
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