Tay Sachs Case

Tay-Sachs

A couple has one son with Tay-Sachs. In their second pregnancy, prenatal diagnosis indicates that the fetus has Tay-Sachs. The parents choose to abort the fetus. Tay-Sachs is a genetic disorder which a person locks an enzyme called hexosominidas (Hexa) which breaks down a lipid in the brain. This lipid then accumulates in the brain destroying the normal functions of the nerve cell. The symptoms of Tay-Sachs disease appear after about six months. They include of deafness, paralysis, blindness, dementia, seizures, and unable to swallow. Eventually, it cannot roll over or sit without help. Dementia (uncontrolled laughter) may set in and the head grows abnormally large. The baby then becomes blind, and dies, usually before its 5th year.

Children who have Tay-Sachs may also have Asthma, their muscles may not work in the right way and they may end up in a wheelchair because of paralysis. Children with Tay-Sachs may have trouble sleeping at night with how much pain they would be in. There is no cure for Tay-Sachs. There are medications to help relieve symptoms and pain, it is not a cure. This medication will not help them live any longer, only relieve pain and help with seizures.

Tay-Sachs can only be passed on in its fatal form if both parents are heterozygous for the disease. If both parents are heterozygous for Tay-Sachs, there is a one in four chance of the infant having the disease. If only one parent is heterozygous, the infant has a one in two chance of being a carrier.