Comprehensive Care Team

Pompe disease is a multisystem disorder, meaning that it affects many of the body’s systems and organs.

It requires a multidisciplinary team, which means a group of physicians, nurses, and other healthcare providers (HCPs), each specialized in managing different aspects of your healthcare.

For example, a pulmonologist (lung doctor) will manage signs of respiratory function, a cardiologist will make sure that the heart is functioning properly, a dietitian can ensure that the patient is meeting proper nutritional goals, and a physical therapist will help maintain muscle tone and function. Ideally, the multidisciplinary team is led by a physician with experience in managing Pompe disease.

A Multidisciplinary Team Approach

Because Pompe disease is rare and its symptoms can be difficult to predict and manage, each patient’s team of healthcare providers is best led by a care coordinator. Additionally, depending on the affected organs, the team could include an array of specialists, including a genetic counselor.

The care coordinator’s responsibilities include making sure the patient/family understands all information pertinent to the patient’s care, providing appropriate contact information for supportive services, and updating the patient/family on the care plan and patient progress at regular intervals.

This figure displays the care team for infantile-onset Pompe disease with a care coordinator helping to coordinate respiratory therapy, genetic counseling, nutrition & dietary therapy, speech therapy, cardiology, a neuromuscular specialist, physical therapy and occupational therapy.

Ongoing monitoring through assessments and management of symptoms are critical to an infantile-onset Pompe disease (IOPD) patient’s care plan.

Some doctors may have expertise in managing more than one aspect of Pompe disease. Since Pompe disease is different for every person, every patient may not require the services of all of these specialists. Moreover, based on where a person lives, not all specialists listed in the coordinated care team above will be readily available. Patients may need to seek out the best care based on what is available to them in their geographic region, but may need to be prepared to travel to find a specialist located elsewhere if the need dictates.

  • Neuromuscular specialists and neurologists – Experts in treating muscular diseases and related loss of muscle function, one of the primary symptoms 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. Respiratory complications can significantly impact patient quality of life, and a combined and collaborative approach between a pulmonologist and a neurologist is especially important for effective management of the disease.
  • Cardiologists – Experts in heart conditions
  • Gastroenterologists – Experts in various disorders of the digestive tract

The following providers can provide supportive care for associated symptoms of Pompe disease:

  • 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 if needed
  • Dietitians 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). A collaboration between a dietitian experienced in metabolic disease and a speech therapist can provide the best feeding plan for the patient

Professional counselors and other healthcare providers listed below can help patients and their families manage the challenges of Pompe disease and deal with any lifestyle changes that may be required.

  • Psychotherapists provide psychological counseling and the opportunity for individuals and families to talk about their worries, fears, and feelings
  • 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
  • Social workers offer practical assistance on financial concerns and other matters
  • Nurses and home health aides help ease the disease’s burden on families and loved ones by providing the patient with medical and personal care