Psychosocial Support

As a chronic, degenerative illness with profound effects on the physical aspects of quality of life, Pompe disease can have a considerable emotional and psychological impact on patients and their families. An integral part of patient care is providing a range of psychosocial support services to help ease the burden and improve overall patient well-being:[1-3]

  • Individual and family counseling
  • Access to disease education
  • Patient organizations and advocacy groups
  • Support groups and networks for connecting with other patients

Take Note: Genetic Counseling

Individuals with Pompe disease, and parents of affected children, should be offered genetic counseling to help them understand the inheritance patterns of Pompe disease, the risks to other family members, and family-planning options.

Learn more about genetic and family testing

References

  1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  2. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. 2008;71(23 Suppl 2):S4-11.
  3. Oba-Shinjo S, da Silva R, Andrade F, et al. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol 2009;256(11):1881-90.

Ask a Medical Question

Genzyme Medical Information can answer questions about Pompe disease.

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Schedule of Assessments

The Pompe Registry has developed a recommended schedule of assessments to help in the care and monitoring of patients with Pompe disease.

Download Schedule of Assessments

Pompe Registry

Find out about the Pompe Registry, an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease.

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