A number of ethnic groups have a higher risk for inheriting specific genetic conditions than the general population. In the Ashkenazi (Eastern European) Jewish population, there are many well-known inherited conditions such as Familial Dysautonomia.
For FD, you have an approximately 1/27 chance of carrying the FD mutation. If your partner also has the genetic mutation, your chance of having a baby with FD is 25% with each pregnancy. The good news is that FD is preventable. Even if both parents are carriers, your obstetrician can help you to avoid having a child with FD. Getting tested, and if both partners are carriers, working with your obstetrician, are the two best ways to prevent FD.
Testing is having a dramatic effect on the number of FD births according to one center that tracks FD statistics. Prior to 2001, the total number of reported FD births averaged 15 per year. Once testing became available for FD in 2001, however, the number of reported FD births steadily declined to 2 births in 2006 and 1 birth in 2007. This downward trend continues today.
If you or a loved one are of Ashkenazi descent and are planning on having children, genetic testing is available. Be sure to ask if the lab tests for both of the two known FD mutations; one is more common than the other but not all labs test for both. Outside of the Jewish population, there are some very very rare mutations that turn up when a Jewish carrier has a child with a non-Jewish partner. Many insurance plans cover the cost of testing. In addition, local testing centers offer free or reduced rates. Click here to learn more.