Living with Pompe

 

Pompe disease can affect many different parts of the body. Because of this, management of Pompe disease needs input from a wide range of medical specialists and supportive-care health professionals.

 

 

Getting diagnosed for Pompe disease can be a long and complicated process. It often involves several different doctors and a variety of tests, since symptoms may affect many areas of the body.

Usually doctors need to first rule out other more common disorders that share similar symptoms with Pompe disease.

 

Healthcare teams

 

Pompe disease can affect many different parts of the body. Because of this, management of Pompe disease needs input from a wide range of medical specialists and supportive-care health professionals.

 

 

Medical specialists

 

Doctors from various medical areas may be involved in managing the care of a person with Pompe disease. Some doctors have expertise in managing more than one aspect of the condition, whilst others focus on one particular area:

 

  • Neuromuscular specialists and neurologists
  •  Experts in muscular diseases and related loss of muscle function (one of the main signs of Pompe disease)
  • Geneticists and metabolic specialists
  • Experts in diseases passed through families and problems involving chemical processes within living cells
  • Respiratory specialists
  • Experts in conditions affecting the lungs, resulting in breathing problems (one of the main signs of Pompe disease)
  • Cardiologists
  • Experts in heart conditions (especially relevant for infants with Pompe disease)
  • Gastroenterologists
  • Experts in disorders of the digestive tract (i.e. the stomach and guts)

 

Supportive-care health professionals

 

Once diagnosed with Pompe disease, a person may see many different healthcare professionals for supportive care, to help manage their condition and live life as normally as possible: