Tay-Sachs: The Silent Killer
By: Andrew McKinney
What is Tay-Sachs?
Tay-Sachs is a very rare genetic disease where it will cause infants to go blind, deaf, paralyzed, delayed response time, and ultimately unresposive to their environment after the first six months of being born. Babies who have Tay-Sachs will die in infancy, usually around the age of four to five.
What Causes Tay-Sachs?
Tay-Sachs is caused by a defective gene in Chromosome 15. The gene in Chromosome 15 produces the enzyme "hexosaminidase A (HEXA)" This enzyme gets rid of fatty proteins in the brain. Because infants with this disease don't have these enzymes, they can't get rid of these proteins that ultimately cause them to go blind, deaf, and paralyzed. In order for have a child to potentially have Tay-Sachs, both parents would need to be carriers of the disease, because its recessive. This disease is not a sex-linked trait, so it effects males and females the same.
Tay-Sachs and its Rarity
Tay-Sachs is an extremely rare disease, with only 16 births per year in the United States with babies having Tay-Sachs. If you are of Ashkenazi Jewish, French-Canadian, or of Irish decent, you have an increased risk of having a child with Tay-Sachs. Luckily, there's a method that can reveal if you're a carrier of Tay-Sachs. Blood tests can reveal if you are a carrier of Tay-Sachs because of the decreased count of hexosaminidase A in the blood stream.
What Are Some Options For Carrier Couples?
If a couple is found to be carriers of the Tay-Sachs disease, they will most likely want the best option for a healthy family. During the 10th week of pregnancy, doctors can test if the fetus has been affected by Tay-Sachs. At this point, it is up to the couple if they want to terminate the pregnancy or not. Another option is adoption if a couple does not want to take any chances.
Bibliograhy
Tay-Sachs disease. (n.d.). Retrieved March 20, 2016, from https://ghr.nlm.nih.gov/condition/tay-sachs-disease
Tay-sachs Disease. (n.d.). Retrieved March 20, 2016, from http://www.tay-sachs.org/taysachs_disease.php
Tay-Sachs Disease. (n.d.). Retrieved March 20, 2016, from http://kidshealth.org/en/parents/tay-sachs.html
The Cure Tay-Sachs Foundation - Carrier Statistics. (n.d.). Retrieved March 20, 2016, from http://019221f.netsolhost.com/carrierstats.shtml