Pompe disease is a multisystem disorder, meaning that it affects many of the body’s systems and organs.
It requires enlisting a multidisciplinary team led by a physician with experience in managing Pompe disease.
Periodically, medical associations publish guidelines for disease diagnosis and management. Guidelines are based on the compilation of a large amount of information, research, and experience from experts in that particular field, and can inform physicians on how to best diagnose a particular disease, and what management strategies have been shown to be safe and effective. Guidelines are also important because they may sometimes determine whether a particular management strategy will be reimbursed by insurance. The American College of Medical Genetics (ACGM) has published standard-of-care guidelines for the diagnosis and management of Pompe disease. An international team of multidisciplinary experts in various aspects of the disease developed these guidelines, which aim to facilitate timely diagnosis and treatment of people with Pompe disease.
Figure 1. Examples of some possible Pompe disease multidisciplinary care team members
Guidelines recommend a multidisciplinary approach, with disease management coordinated by a physician with experience managing people with Pompe disease. The coordinating physician can be a specific type of doctor, like a geneticist, or they can be a general healthcare provider (HCP). Ideally the physician should have some experience managing patients with Pompe disease and is someone with whom the patient feels comfortable. Additionally, depending on the affected organs, the team could also include a cardiologist, pulmonologist, neurologist, orthopedist, respiratory therapist, physical therapist, occupational therapist, audiologist, speech therapist, intensivist, orthopedist, genetic counselor, and a metabolic dietitian. A patient or caregiver may seek out the best healthcare team members available in their particular geographic region, but know that not all healthcare specialties may be necessary at all times, and certain specialists in other locations may need to be sought out if the need arises.
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.
Contact Sanofi Genzyme to assist with comprehensive care coordination or consult with Resources for Patients and Caregivers for links that will assist you in finding a genetic counselor for your family.
A similar team may be useful for patients with the infantile form of Pompe disease. Access further details about members of the care team in the Care and Support of Patients With IOPD section.