Pompe disease is a multisystem disorder, meaning that it affects many of the body’s systems and organs.
It requires a multidisciplinary team, which means a group of physicians, nurses, and other healthcare providers (HCPs), each specialized in managing different aspects of your healthcare.
For example, a pulmonologist (lung doctor) will manage signs of respiratory function, a cardiologist will make sure that the heart is functioning properly, a dietitian can ensure that the patient is meeting proper nutritional goals, and a physical therapist will help maintain muscle tone and function. Ideally, the multidisciplinary team is led by a physician with experience in managing Pompe disease.
Because Pompe disease is rare and its symptoms can be difficult to predict and manage, each patient’s team of healthcare providers is best led by a care coordinator. Additionally, depending on the affected organs, the team could include an array of specialists, including a genetic counselor.
The care coordinator’s responsibilities include making sure the patient/family understands all information pertinent to the patient’s care, providing appropriate contact information for supportive services, and updating the patient/family on the care plan and patient progress at regular intervals.
Ongoing monitoring through assessments and management of symptoms are critical to an infantile-onset Pompe disease (IOPD) patient’s care plan.
Some doctors may have expertise in managing more than one aspect of Pompe disease. Since Pompe disease is different for every person, every patient may not require the services of all of these specialists. Moreover, based on where a person lives, not all specialists listed in the coordinated care team above will be readily available. Patients may need to seek out the best care based on what is available to them in their geographic region, but may need to be prepared to travel to find a specialist located elsewhere if the need dictates.
The following providers can provide supportive care for associated symptoms of Pompe disease:
Professional counselors and other healthcare providers listed below can help patients and their families manage the challenges of Pompe disease and deal with any lifestyle changes that may be required.