By Carol Guzman
Talking about your family health history at the Thanksgiving table is a vital tool when it comes to preventing hereditary cancers and passing on genetic diseases. However, other diseases, such as recessive genetic disorders, may go unnoticed and can be passed on generation to generation without directly affecting a family member. That’s because an individual must inherit two copies of the mutated gene, one from each parent, to acquire the recessive disease. If two people — each with one mutated copy of the same gene — have a child together, there is a 50% chance that their child will also be a carrier and not exhibit symptoms, a 25% change that the child will have no mutated copies of the gene, and a 25% chance that the child will be affected with the disorder. Most Jewish genetic disorders are inherited in this autosomal recessive fashion.
For example, Canavan disease is one of many Jewish genetic disorders that can hide in families; this disease renders the nerve cells in the brain unable to send and receive messages. Although infants may appear normal at birth, by 3 to 6 months they lack muscle tone and head control making them appear ‘floppy’.
Orren Alperstein and Seth Gelblum, founders of Canavan Foundation for the Prevention & Cure of Canavan Disease, did not have family members affected with Canavan disease and found out that they were carriers once their child was diagnosed with the fatal disease. At the time, carrier screening for Jewish genetic disorders was not available. Instead, they learned from their doctor that their second daughter, Morgan, would not reach certain developmental milestones such as walking, talking, or holding up her head up on her own. Orren and Seth continue to advocate for preconception carrier screening and hope to serve as an example that carrier couples can build healthy families.
If you or someone in your family is planning to start their own family, it is important to know that:
- Everyone carries 6-8 changes in their genes, no matter their ethnic background. While most of these changes are harmless, some can cause sever genetic disorders
- Furthermore, 80% of babies with genetic disorders are born to parents with no known family history of that disease
- Talking to a genetic counselor about your and your partner’s ethnicity and family health history can help them direct you to a panel that is best for you
- If you do know that you have a family history of a certain recessive condition, it’s important to mention that to doctor and see a genetic counselor when family planning
- The Norton & Elaine Sarnoff Center for Jewish Genetics has a convenient online, on-demand carrier screening program that is accessible to all Jewish and interfaith couples in Illinois
- Ideally, couples should get carrier screening prior to pregnancy to understand their risks and options
- If both you and your partner are carriers for the same disease, a genetic counselor can walk you through the various options available for you to build a health family
Family health histories are helpful to learn what steps we must take to reduce our risk of certain genetic diseases that have been passed down within our family. Whether or not our family health history sheds information on recessive disorders that we and our family members may be carriers for, it can still help us plan for our own health and the health of our future family. Fortunately, there are additional steps we can take when planning for a family – such as carrier screening – to learn about our risks of passing on recessive genetic disorders.
You can learn more about family health history and find tools to capture yours here. If you have additional questions about genetic health conditions or family health history, please contact the Sarnoff Center at (312) 357-4718 or JewishGenetics@juf.org and ask to speak to our genetic counselor.
