Prather Pediatric and Allergy Center - Ask Doctor Brent

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Title: Cajun Tay-Sachs

Category: Child Care


Over the past few years research has discovered a rare phenomena in our local area. Three confirmed cases of a rare

disease usually found only in Ashkenazi Jews were diagnosed around Iota, La. The disease is called Tay-Sachs and it is a devastating neurologic disease in which a formerly well child begins to deteriorate and ultimately dies. The disease is caused by a missing enzyme called beta hexosymanodase-A or hex-A, for short. This causes a breakdown in brain and nerve cells until the entire nervous system is ruined. The children become infantile in their behavior and require 24 hour care. This is especially devastating in a child who was formerly developing normally. Due to the discovery of the three families, in the area around Iota, the Louisiana chapter of the National Tay-Sachs and Allied Diseases Association was started. Through the help of several families in that area, as well as Dr. Emmanuel Shapiro at Tulane, a blood drawing was done last year in July and 250 people were screened in the Iota area for the Tay-Sachs carrier gene. Seventeen percent were found to be carriers, which is a 7% carrier rate and is actually almost double the rate found in Ashkenazi Jews.

It is felt that probably the gene was introduced into the German farming area over 100 years ago through several generations of marriages of people who were distantly related and did not know it. The gene pool has become more focused leading to the unusually high carrier rate in the area. This phenomena occurs for many other genetic diseases throughout Louisiana and is largely due to the fact that people in our culture like to stay in one area for several generations. Genetically, when two cousins marry who don't know they are cousins, and this occurs twice over a seven generation span, it is almost like a brother and sister marrying. This makes the chance of two weak recessive genes lining up together much higher and leads to a very high incidence of genetic disease in our state.

Research is ongoing at Tulane to find out more about Cajun Tay-Sachs and to give genetic counseling and guidance to the families involved and any people in the area around Iota, Eunice, Crowley and Egan who may be concerned. For more information, contact your pediatrician or the genetics department at Tulane or the Louisiana Chapter of the National Tay-Sachs and Allied Diseases Association in Iota.