Genetic Counseling

Because Pompe disease is a genetic disorder, family members of an affected individual are at risk of having the disease (having two copies of the defective gene) or of being carriers (having only one copy of the defective gene).

Learn more about how Pompe disease is inherited within families

Genetic counseling can provide information and support to families affected by the disease, helping them better understand inheritance patterns and make more informed family-planning decisions.

Take Note: Disease Carriers

The term “carrier” is used to describe a person with only one defective copy of the gene. Carriers do not have Pompe disease or experience symptoms, but they “carry” the gene defect and may pass it on to their own children.

Because of Pompe disease’s genetic nature, when one person in a family has the condition, other family members may be at risk of having the disease or being carriers. Genetic counselors are specialized health care professionals with expertise in medical genetics and family inheritance issues. They are trained to help families by:

  • Explaining family inheritance patterns and identifying potentially at-risk individuals
  • Providing balanced information about what genetic testing involves to support decisions about who to test
  • Helping family members cope with positive test results
  • Providing guidance on genetic issues such as family planning and prenatal testing

For more information about genetic counseling and to find a counselor in a specific area, visit the website of the National Society of Genetic Counselors.

Find out more about family testing options 


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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