Pompe disease is a multi-system disorder, meaning that it affects many of the body’s systems and organs. For this reason, a variety of doctors and other health care providers—with specialization in different areas—are usually involved in caring for patients.
Addressing All Needs
People with Pompe disease will likely need to see several doctors and therapists for help with difficulties with walking, breathing, or other health problems. In addition, many patients benefit from additional support to deal with the mental and emotional burden of living with the disease. Regular follow-up tests to monitor the disease’s progression are also critical to a successful care and treatment plan.
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Getting Involved in Care
Pompe disease is a rare disorder, and many health care providers may not be familiar with it. Patients may also want to play a more active role in obtaining care. They may want to reach out to patient organizations for referrals to doctors and therapists who have experience with Pompe disease, or urge their doctors to consult with experts in medical centers. Becoming actively involved in care can make patients more knowledgeable about the disease and help them feel more in control of their condition and health.
For additional tips on patients playing an active role, visit the Living with Pompe Disease section.
A Multidisciplinary Team Approach
Because Pompe disease is rare and its symptoms can be difficult to predict and manage, each patient’s team of health care providers is best led by a care coordinator. This care coordinator takes the lead in planning and arranging for tests, therapy, and other aspects of disease management, as the following diagram illustrates:
Pompe disease can affect different people in different ways, so the members of the medical team will depend on each patient’s particular symptoms and health problems. Team members may include physical therapists, breathing specialists, dieticians, and others as the patient’s condition requires.
Get more details on these and other potential members of a health care team
Monitoring Patient Status
The progressive nature of Pompe disease means that it always worsens over time, but it can be very difficult to predict the speed of this progression or exactly how symptoms will change. It is important that all patients are monitored regularly—even if symptoms seem relatively mild—to track the disease’s progression and adjust care and treatment as needed.
- Affected infants almost always have very severe symptoms and very rapid progression, so they should be closely followed, especially for heart problems. Sometimes 24-hour heart monitoring is necessary.
- With older patients, a general guideline of check-ups every 6 months is usually recommended.
The Pompe Registry is a program that tracks physician information about patients’ symptoms and experiences in order to improve understanding of Pompe disease. The Registry has developed a schedule of assessments, or follow-up tests, to help guide doctors in monitoring patients. Download the Pompe Registry’s recommended schedule of assessments or visit PompeRegistry.com
Many of the tests and assessments used during the process of diagnosis are the same ones that doctors continue to use during ongoing monitoring of the disease.
Learn more about some of the tests patients may undergo
Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.