Learning About Pompe
Managing Pompe
Treatment OptionsManaging Pompe
Pompe disease is a progressive disease with a widely variable age of onset and disease progression. The broad clinical presentation of the disease ranges from the patient who has the rapidly progressive form of the disease early in life to the steadily progressive older patient. Pompe disease is a multi-system disorder and is best managed by a multidisciplinary team led by a physician with experience treating this disorder.
Team members may include a metabolic disease specialist/biochemical Geneticist in addition to the specialists dictated by the disease manifestations, which might include a Cardiologist, Pulmonologist, Neurologist, Intensivist, Orthopedist, Respiratory Therapist, Physical Therapist, Occupational Therapist, Speech Therapist, and a Metabolic Dietitian. All specialists involved in the care of an individual with Pompe should have an understanding of the disease, its broad and varied manifestations, and challenges, including the psychological and emotional impact of this disease.
What Are Some of the Common Health Problems of Pompe Disease?
Muscle weakness can lead to many different medical problems. Yet not all people with Pompe disease have the same problems. For some, the impact will be severe. For others, it will be milder. In either case, when medical problems occur, you may not realize that they could be related to Pompe disease.
If you know what to expect, you will be better able to seek medical care that is tailored to your or your child’s needs. Keeping track of your symptoms and getting regular checkups can also help prevent health problems from becoming more serious.
