Tay Sachs Disease

What is Tay Sachs Disease?

Tay Sachs disease, tay sachs syndrome, tay sachs disorder, this is the most searched topic so far around the world. Apparently, a Bethel girl is diagnosed with such as disease and an organization is having a fund raising to help her life. But as I did some research on Tay Sachs disease, I found out that there is still no cure for it. Also, children who are diagnosed with Tay Sachs disease will not live more than four years even with intensive care.


Here's a complete information about Tay Sachs Disease / Syndrome / Disorder:

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-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.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.


The best way to treat a patient with Tay Sachs, and any other incurable disease, is to pray to God for a miracle. Medical science might say that it is impossible to cure Tay Sachs Disease but with God, nothing is impossible.


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