A family member may want to consult a genetic counselor if they are:
- Receiving or trying to understand test results on a parent or direct relative who may be at risk for genetic prion disease
- Considering taking a blood test to determine whether they carry the mutation for genetic prion disease
- At risk for genetic prion disease, or known to be carrying a genetic mutation, and are planning a family
A Genetic Counselor trained in adult onset conditions, especially in the "Huntington's Protocol," can be very helpful in working with families to prepare emotionally and logistically for testing. For example, they might speak with families about:
- Understanding the various mutations, the person’s level of risk for inheriting the mutation from a parent, and their level of risk of developing the disease if they do carry the gene
- Getting life insurance or long-term care insurance set up in advance of testing
- Mentally rehearsing how the individual might respond to their results, whether positive or negative
- Building a plan for communicating or not communicating results to family and friends
For more information on the value of visiting a genetic counselor, listen to our interview with Jill Goldman, a genetic counselor who specializes in prion diseases and other adult onset diseases.
Read: "Genetic counseling for prion disease: Updates and best practices" by Jill S. Goldman and Sonia M. Vallabh, July 12, 2022.
Families can find a genetic counselor in their area through the National Society of Genetic Counselors. To search their registry, go to “find a genetic counselor”
For more information, contact the CJD Foundation at 800-659-1991 or firstname.lastname@example.org. If your genetic counselor needs more information on CJD, we’ll be happy to speak with them as well.