Learning About Pompe
Managing Pompe
Treatment Options
Finding a SpecialistFinding a Specialist
Because Pompe disease is rare, it can be challenging to find specialists in your area who are familiar with the disease. You may want to ask your family doctor to refer you to a major medical center that is known for diagnosing rare diseases.
If the nearest center is too far from where you live, work with your health care provider to find an expert at the center to consult with your physician about how to handle your case. As many people with Pompe disease and other rare diseases have learned, it is important to work closely with your health care provider to make sure you get the best care possible.
The medical specialists who may be involved in your care have a wide range of skills.
In addition to the health care professionals who provide supportive care, your care team may include the following specialists.
Care coordinator
The health care provider who takes the lead in planning and arranging for tests and disease management. It may be your family’s primary health care provider or pediatrician.
Experts who diagnose and treat medical problems caused by Pompe disease
Neurologist or pediatric neurologist: diagnoses and treats neuromuscular problems
Cardiologist: monitors and treats heart problems
Pulmonologist or respiratory specialist: monitors and treats breathing problems
Geneticist/metabolic specialist: diagnoses and counsels family members about genetic diseases
Gastroenterologist: treats digestion and feeding problems
Orthopedist: treats joint and bone problems, such as scoliosis and contractures
Providers who address psychosocial and practical needs
Social worker or psychotherapist: offers emotional support and assists with practical matters or financial concerns
Genetic counselor: provides guidance on genetic issues, such as family planning, carrier testing, and prenatal screening
Finding a facility
Few medical centers specialize in the management of Pompe disease. And there may be a limit to how far you are willing or able to travel to get care. But you may be able to obtain expert care close to home. Many clinics and rehabilitation centers treat neuromuscular disorders that are similar to Pompe disease, such as muscular dystrophy (MUSS-cue-larr DISS-tro-fee). There are also a number of medical centers at major universities that specialize in caring for patients with rare genetic diseases.
These facilities may offer comprehensive care that allows you or your child to use many health care services in one place. Services can include:
Genetic screening and counseling
Diagnostic procedures, such as muscle biopsy or enzyme level testing
Lab tests
Sleep studies
Early intervention for developmental delays
Visits with specialists, such as cardiologists pulmonologists, and neurologists
Supportive therapy to manage symptoms
Support groups
Help with insurance claims
Flu vaccines
Regular checkups
