What should I do first after being diagnosed with Pompe disease?
There is one FDA approved treatment for Pompe disease in the United States with a drug called Alglucosidase Alfa (Trade Name: Lumizyme). Lumizyme is an enzyme replacement therapy (ERT) which is a man-made enzyme that is infused into the vein of a person with Pompe disease every two weeks. The man-made enzyme can break down built up glycogen in the muscles. It is important to start ERT as soon as possible when someone is diagnosed with Pompe disease, because muscle that is too damaged by glycogen may not be able to be helped. Lumizyme is better at clearing out glycogen storage in the heart muscles compared with the skeletal muscles (muscles which help the body move).
In addition to ERT for Pompe disease, it is important to follow up regularly with several different medical specialists to manage different symptoms or possible symptoms of Pompe. First, it is recommended that everyone with Pompe disease be followed by a doctor who is knowledgeable about lysosomal storage diseases and/or Pompe disease. This may be a medical geneticist (genetics doctor), a neurologist (nerve doctor) in a Muscular Dystrophy Association clinic, or other doctor who has followed similar patients. Anyone with Pompe disease should follow regularly with a cardiologist (heart doctor) who may recommend an echocardiogram (ultrasound of the heart) and/or electrocardiogram (ECG; study of the heartbeat). A pulmonologist (lung/breathing doctor), gastroenterologist (GI; doctor for eating and swallowing issues), or an orthopedic surgeon (bone doctor) may also be needed depending on the symptoms. Regular physical, occupational, and speech therapy can be very helpful in helping to keep the muscles working longer.
Aside from medical management, an important first step after an initial diagnosis of Pompe disease is to get in touch with a support group that can provide the emotional support and resources that a newly diagnosed individual and their family may need.