Pompe disease is a neuromuscular disorder that can affect people of all ages and results in progressive deterioration of a person’s health over time.
Children and adults with the late-onset form of Pompe disease (LOPD) usually display more gradual and varied rates of disease progression than those with the infantile-onset form; however, the prognosis of people with LOPD is unpredictable.
Progression of LOPD is linked to dysfunction of the skeletal muscles, with the lower limb and muscles of the spine and back often affected first, followed by the diaphragm (large muscle that helps with breathing) and other associated respiratory (breathing) muscles. Eventually, a weakened diaphragm can make it difficult to breathe, leading to respiratory insufficiency, or the inability to breathe easily. Although initial symptoms can be mild, managing them with non-invasive respiratory support methods, such as respiratory muscle training, cough assist devices, airway clearance, supplemental oxygen, bronchodilators, and the use of BiPAP/CPAP machines (machines that help a person breathe easily and regularly throughout the night), can be considered. In case of respiratory insufficiency during sleep and waking hours, an invasive support option is tracheostomy tube placement (a tube placed directly into the windpipe) with mechanical ventilation. It is important, if the time comes, to discuss these options with your doctor, and which ones might be right for you.
Living with Pompe disease is not only about dealing with associated symptoms, understanding the genetic issues, or juggling doctor appointments, it is also about living day-to-day in the face of new physical and emotional challenges. The challenges of Pompe disease extend beyond individuals to their family members, friends, and perhaps to colleagues as well. As the disease progresses and a person faces greater physical challenges, they must turn more and more to others for support with daily activities. Some people may need specialized medical care that family members cannot provide, as well as support to carry the financial burden that may be associated with the disease. Although it may be emotionally challenging for some, accepting the help of nurses, home health aides, and other professional caregivers can be beneficial in managing the disease.
It is beneficial for patients to try and find their own ways to cope and deal with the various emotional and psychological issues that arise. Doing so allows for the maintenance of some sense of control and independence. However, reaching out to others is never a bad idea, and may become necessary for some tasks. There are many resources available online. You can read the following for additional tips: Coping Strategies and sources of support You can also download the Daily Routine and Tips Checklist to help keep track of your daily routine, including monitoring symptoms, tracking appointments, and accessing support resources.