Patients And Carriers Of Tay Sachs Disease example essay topic

Tay Sachs Disease Tay-Sachs is a genetically inherited disease that which is terminal and incurable. A genetic disease is one which is obtained through hereditary; which basically means they are born with the disease. Tay Sachs is when the body is unable to produce an enzyme necessary for fat metabolism in the nerve cells. Scientifically, Tay-Sachs disease is when harmful quantities of a fatty substance called gangliosides GM 2 gather in the nerve cells of the brain. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become swollen with fatty material, a persistent weakening of mental and physical abilities occurs.

The child becomes blind, deaf, and unable to swallow. Muscles begin to deteriorate and paralysis sets in. A much rarer form of the disease occurs in patients in their twenties and early thirties is characterized by shakiness and neurological decline. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes.

The condition is caused by deficient activity of an enzyme called Hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as Gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures Hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation in Hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired.

Presently there is no treatment for Tay-Sachs. Even with the best of care, children with Tay-Sachs disease usually die by age 5. Tay-Sachs carriers are found most frequently among families of eastern European Jewish descent (Ashkenazi Jews). In the United States today, approximately one in every 27 Jews is a Tay-Sachs carrier.

Among Jews of Sephardic origin and in the general, non-Jewish population, the carrier rate is about one in 250. There are certain exceptions. French-Canadian and the Cajun community of Louisiana have the same carrier rate as Ashkenazi Jews, one in 27. Also, individuals with ancestry from Ireland are at increased risk for the Tay-Sachs gene. Current research indicates that among Irish Americans, the carrier rate is about one in 50. The only fight available against Tay Sachs is knowing if you " re a carrier.

The solution to that is an easy blood test. The Tay Sachs gene is passed from one generation to the next. Those who are coupled and are from either Jewish or Irish decent are urged to get tested. Otherwise, a presumed healthy baby may be the next victim of Tay Sachs.