The Health Care Team

The lists below summarize and define the various professionals who may contribute to the care and treatment of Pompe patients.

Each patient’s health care team may consist of specialists based on the patient’s individual symptoms and needs, led by a professional with experience managing Pompe disease or other similar disorders.

Medical Specialists

Doctors from various specialties may be involved in managing patients with Pompe disease. Some doctors may have expertise in managing more than one aspect of the disease.

  • Neuromuscular specialists and neurologists – Experts in treating muscular diseases and related loss of muscle function, one of the primary signs of Pompe disease
  • Geneticists and metabolic specialists – Experts in genetic diseases and problems with metabolism
  • Pulmonologists – Experts in treating diseases affecting the lungs and resulting breathing problems, one of the primary signs of Pompe disease
  • Cardiologists – Experts in heart conditions
  • Gastroenterologists – Experts in various disorders of the digestive tract

Supportive Care Providers

Once diagnosed with Pompe disease, a patient may see many different therapists for supportive care to help manage the disease’s symptoms.

 Care coordination chart

Remember that not every patient will need to see all these providers—a patient's team will depend on the nature and severity of the case.

  • Physical therapists – Help improve muscle strength and overall mobility through the use of strengthening exercises, stretching and flexibility training, massage, and other techniques
  • Occupational therapists – Help patients adapt to their environment and learn new ways to perform tasks at home, school, and work to compensate for disabilities brought on by the disease
  • Respiratory therapists – Help improve respiratory function by teaching exercises designed to strengthen weakened breathing muscles and instruct in proper use of mechanical ventilation
  • Dieticians and nutritional therapists – Help maintain proper nutrition status by developing special diets and eating plans as well as teaching exercises to strengthen muscles used in eating
  • Speech therapists – Help correct speech difficulties brought on by weakened facial muscles (especially in children)
  • Psychosocial therapists – Experts who can provide nontherapeutic intervention such as counseling and coping mechanisms for individuals and families dealing with the impact of a chronic disease on themselves or a loved one

Genzyme Support Services

Learn how Genzyme can help people affected by Pompe disease with medical information, advocacy, treatment support, and more.

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Organizations & Websites

Get lists of online resources and worldwide organizations and associations that offer information, support, and more for people living with Pompe disease.

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