What is Familial Dysautonomia

Background Information on the Disease and the Foundation

What is Familial Dysautonomia?

Familial Dysautonomia is an inherited incurable genetic disease. It affects Jews in general and Ashkenazi Jews specifically at a ratio of 1:30 (For every thirty Jews, one is a carrier of the disease.) The disease affects the autonomic nervous system, the motor system and the sensory system as well. The damage which is extensive and multi-system, is expressed by a lack of regularity in the autonomic functions of the body such as: stable blood pressure, stable body temperature, coordination of swallowing and digestion and also the ability to control oneself in stressful situations. The disease worsens over the years and the patients are subject to dysautonomic "attacks" of uncontrolled ups and downs of blood pressure and debilitating nausea. The attacks can only be stopped by anesthetizing the patients for several days and allowing the body to "relax" and restart the autonomic nervous system.

How is FD inherited?
It is estimated that 3%-5% of all Ashkenazi Jews carry the defective FD gene. Both parents must be carriers of the defective gene for a 25% chance their child will be born suffering FD disease. Those who carry the FD gene but are unaffected by the FD disorder – do not display any outward symptoms nor do they have any dysfunctions to suggest they are carriers.

Can FD be detected before birth?
Yes. In January 2001, the gene that causes FD was identified. The genetic test for FD is available through the health clinics as part of the package of tests available to woman. The test is a simple blood test and will show if the mother is a carrier of the FD gene or not.

Who should be tested?
Every Jewish couple in which at least one partner is of Ashkenazi origin, especially those with a family history of FD. If not tested previously, pregnant couples should be tested too.