Infantile-onset Pompe disease (IOPD) is a chronic progressive illness that has a profound effect on the quality of life of the patient and the caregivers, causing considerable physical, emotional, psychological, and financial strain.
This section aims to introduce the network of supportive care and care strategies that are available for people with IOPD including symptom management. For information on LOPD, see Care and Support for LOPD patients.
Management of IOPD requires a comprehensive team approach from a variety of health care providers. Prompt referral to a suitable multidisciplinary subspecialty center with experience in managing Pompe disease is ideal.
Coping strategies may also help those caring for a child or loved one with a complex chronic condition like Pompe disease.
In patients with IOPD, ongoing monitoring of various organ systems affected by the disease is recommended. Specific areas of focus in IOPD include cardiac, respiratory, gastrointestinal, hearing, motor, cognition, and immunologic. Additionally, the patient has to undergo regular laboratory and general assessments.
In infants, Pompe disease results in a greatly enlarged and weakened heart that can pose serious health risks. Changes in the heart’s normal electrical activity and rhythm can be life-threatening. These symptoms can be managed but it requires close monitoring of the heart’s status and providing emergency care and resuscitation if necessary. Twenty-four-hour heart monitoring can be available for serious heart conditions; ensuring that abnormalities in rate and rhythm are not overlooked or missed altogether.
Doctors may perform a variety of tests to check heart health, and if required, may administer medications. Some examples of tests are:
Some drugs can pose serious risk to the person’s heart, and patients should use OTC (over-the-counter) medications (such as those for cold/cough) only under a physician’s guidance.
Children with IOPD should be monitored for signs of low muscle tone and weakness and may also undergo standardized tests of motor development. Infants are likely to have delayed motor development.
Progressive muscular degeneration can cause varying types and degrees of physical disability. Depending on the person’s needs, their rehabilitation program can include physical therapy, occupational therapy, speech therapy, and the use of adaptive and assistive devices.
If you are searching for information on LOPD click here.
Most people with Pompe disease eventually experience breathing difficulties, and respiratory failure is one of the most common causes of reduced life expectancy among children and adult patients.
Therapy and support are available to manage breathing problems and help prevent serious complications:
Mechanical ventilation machines support breathing by sending air into the lungs when muscles cannot do it on their own. Patients may first learn to use ventilators in a hospital or clinic, while portable ventilators allow breathing support during day-to-day activities. Ventilation needs will change as the disease progresses.
There are 2 forms of ventilation:
Noninvasive ventilation uses just a mask over the nose and/or mouth to deliver air from the ventilator. Depending on the type and degree of respiratory difficulty, 1 of 2 types of noninvasive ventilators are often recommended for people with Pompe disease:
Invasive ventilation involves a tube inserted into the nose, mouth, or sometimes directly into the windpipe through a surgical procedure called a tracheostomy. The tube connects to a ventilator to provide intensive breathing support in the most serious and life-threatening situations.
Figure 1. Placement of a nasopharyngeal (nay-so-far-AN-jeel) tube to maintain a clear airway for breathing.
Some patients may not be able to clear mucus from their lungs, making them susceptible to infections such as bronchitis or pneumonia. The best way to manage this is through preventive measures such as keeping up-to-date with vaccinations (patient and family members), seeing a doctor any time the patient develops a cold or a fever, washing hands frequently, getting regular medical check-ups, and carefully using over-the-counter medications, if needed, with approval from your healthcare provider.
Weak swallowing muscles also create the risk of accidentally inhaling food or liquids into the lungs while eating. Respiratory and physical therapists can teach patients exercises to strengthen muscles that can reduce these risks.
Pompe disease can weaken muscles responsible for feeding and swallowing and lead to eating difficulties and insufficient caloric intake. Breathing problems may also make people too tired to eat. As a result, many people with Pompe disease have trouble gaining weight, keeping it on, and getting proper nutrition.
Management of all patients with Pompe disease should include maintenance of good nutrition with consideration of food intake and therapeutic adjustments.
Under direction of their healthcare provider, many people with Pompe disease may benefit from light exercise. Although strenuous exercise should be avoided, gentle exercising can strengthen muscles and prevent deconditioning from inactivity. Infants with IOPD display weakness and any attempt at exercise or conditioning should be done once medical stability has been established by the infant’s physician. Intervention to improve muscle function should include positioning and support exercises to maximize biomechanical advantage, reduce the impact of gravity, and minimize the development of muscle contractures (shortening and hardening of the muscles that can lead to permanent deformity). For example, the buoyancy of water in a tub or pool provides an opportunity for movement while minimizing the risk of over-exertion. Figures 2 through 4 show examples of how facilitation of movement with active assistance can allow strengthening of muscles within the child’s physical limits.
In infants with IOPD, specific exercises including those mentioned can be used to maximize support and control of the head and body, facilitate transition between positions, and help with sitting and floor mobility (rolling, crawling, and in older children, standing and walking). Avoidance of weightbearing can be evidence of muscle weakness in non-verbal children and may manifest as inability to stand upright unassisted. Assistive support can be provided either manually (Figures 3 and 4), or in older children, by the use of walkers (Figure 5) or toys that are appropriate for this purpose (check with your doctor).
Caring for a sick loved one is difficult. Caring for a seriously ill child is a burden no family wants to face. The younger the child and the greater the level of disability, the more the child depends on the parent, and this means that increasingly more time is needed to devote to caregiving activities. Social isolation can result from increasing demands and contribute to a caretaker’s burden, which can include higher rates of depression and physical problems. Finding ways to cope and gain support is essential to maintain both mental well-being and physical health to ensure you can offer your best self to your child and others.
There are a variety of resources to help caregivers find educational and Pompe or rare disease community support as well as other sources of information. Family counseling, disease education, patient organization and advocacy groups, and support groups focused on connecting with other parents and caregivers can help manage the emotional and psychological stress.
Information about patient advocacy group and patient support organizations can be accessed in the Caregiver Resources and Support section of Resources.