Tay-Sachs: An Unfortunate Birth Defect

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Birth defects in newborns and the unborn fetus can be crippling and emotional for parents. Depending on the severity of the defect the baby may have serious complications. Tay-Sachs disease is a defect causing severe developmental delays. Tay-Sachs occurs when a baby is born without the enzyme hexosaminidase A or (HEXA) for short. As fatty proteins build in the brain the baby will begin to lose its sight, hearing, movement, and mental development.

This defect is very rare with 16 cases occurring in the United States each year. The population most commonly affected by Tay-Sachs is people of Jewish heritage, typically of central and eastern European descent. Tay-Sachs is an inherited disease. It can only be inherited when both parents are carriers of the recessive gene. This gene is mutated and causes the problems that occur from Tay-Sachs.

This disease will show itself at birth and will gradually remove eye sight, hearing, and mental development. At around age 2, the baby will most likely become completely disabled. They may suffer from seizures and can become immobile. The life expectancy of a child born with Tay-Sachs is approximately 5 years.

Tay-Sachs can be screened during pregnancy in multiple ways. At around 10 to 12 weeks it can be screened with Chorionic Villus Sampling (CVS). If there is cause for the fetus to be tested after 12 weeks, it may be tested using Amniocentesis. It can also be diagnosed at birth by screening the baby for the chemical HEXA. If there is a deficiency in this chemical then the baby may be diagnosed with Tay-Sachs.

Although this disease may be fatal, children born with Tay-Sachs can live up to 5 years. Doctors can prescribe medications to manage the symptoms of Tay-Sachs and provide comfort. As a parent, you can reach out to support groups. You may be able to talk to your doctor about counseling for extra support. A diagnosis of Tay-Sachs can lead to very serious and even fatal health conditions, but with adequate support you can help meet your child’s needs.

 

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