Aniesa only serious, but one of the genetic disorders

Aniesa Moore

Georgia Northwestern Technical College

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Abstract

Tay-Sachs is a very serious genetic disorder that affects the functionality of the Central Nervous System. Tay-Sachs is passed from parents to their children at a probability of 25% if both parents are carriers, but they can be carriers rather than sufferers of the disease. Couples often abort babies who are diagnosed in the womb as having Tay-Sachs because of the horrible symptoms including blindness, deafness, and loss of motor function. If a fetus is not diagnosed before birth, a baby can start showing the symptoms as early as six months old and can unfortunately pass away by the age of four. This fatal disease has no cure but has some experimental treatments that include trying to replace the enzyme missing, Hex-A. These treatments are not a guaranteed success and are actually extremely difficult due to a barrier in the brain. Tay-Sachs is a difficult genetic disorder that causes grief and suffering for families whose children suffer from the disease.

Keywords: Tay-Sachs, Hex-A, symptoms, fatal

Tay-Sachs: Genetic Disorder and Forgotten Infant Killer

Genetic disorders are serious afflictions that cause pain and strife in the lives of people of all ages, not just adults. While there are several genetic disorders that can affect infants, one of the more serious disorders is Tay-Sachs. Tay-Sachs is genetic disorder that is not only serious, but one of the genetic disorders that a fetus is tested for during pregnancy. Tay-Sachs is a disease that usually winds up fatal because there is no cure currently available. Babies with Tay-Sachs usually die from the disease with the first four years of their lives (“Infantile Tay-Sachs Disease,” 2014).

Tay-Sachs: The Disease

Tay-Sachs is a disease that was first described in 1881 by a man named Warren Tay before Bernard Sachs five years later “explaining cellular changes and the genetic nature of the disease” (“Tay-Sachs Disease”, 2017).  Tay-Sachs disease is simply explained as a genetic disorder that leaves a child without an enzyme that is necessary for normal health in the central nervous system. The lack of this particular enzyme leaves children unable to function normally and can cause a ride range of issues that are related to brain function and the functionality of the central nervous system. The specific enzyme that Tay-Sachs positive children are missing is called Hex-A, or hexosaminidase. The lack of Hex-A causes a build up of something called GM2, or ganglioside which is then responsible for a failure inside the central nervous system. According to the Columbia Electronic Encyclopedia, Tay-Sachs “starts in the fetus and is… apparent in the first few months” (2017).

Tay-Sachs: Signs and Symptoms of the disease

Tay-Sachs is a very serious disease, as mentioned above. Any disease that can affect the central nervous system needs to be taken seriously, but Tay-Sachs is particularly difficult to handle. Tay-Sachs Disease has a variety of symptoms that affect a person suffering from the disease. According to the Mayo Clinic, symptoms of Tay-Sachs are “loss of motor skills…, exaggerated reactions when the baby hears loud noises, seizures, vision and hearing loss, “cherr-red” spots in the eyes, muscle weakness, and movement problems” (“Tay-Sachs Disease,” 2018). One of the hardest aspects of Tay-Sachs is that children who are not diagnosed before birth often develop healthily. It is not until months later that they start to regress and experience symptoms that show they might be suffering from Tay-Sachs. Children with Tay-Sachs often suffer from more than poor motor and mental functions. Children can also become mentally handicapped or “blind, deaf…, paralyzed and nonresponsive to the environment” (“Tay-Sachs Disease,” n.d.).

The Genetic Factors of Tay-Sachs Disease.

Tay-Sachs, as mentioned above, is actually a genetic disorder that affects infants and children. This disease is usually inherited only if both parents are carriers for the Tay-Sachs gene (n.d.). Even though a baby who has Tay-Sachs must be born from parents who both carry this gene, not all children of parents with the gene will have Tay-Sachs. The probability of having a child with Tay-Sachs when both parents carry the gene is 25 percent (“Tay-Sachs Disease,” 2017; n.d.). There seems to also be a tie between Tay-Sachs and children who are either Jewish, French-Canadian, Old Amish Order of Pennsylvania, or are of Louisianan Cajun descent (“Tay-Sachs Disease,” 2018; 2017). Since it is possible for people to be unaware that their family carries the gene, it is not a surprise to hear that some people never know they are at risk of having a child with Tay-Sachs until they give birth to a child suffering from the disease (n.d.). There are two separate tests that a physician can perform in order to determine if a baby will be born with Tay-Sachs and it is not uncommon for couples to choose to have a “therapeutic abortion” in the case of an afflicted child (n.d.).

Genetic tests to confirm Tay-Sachs. The tests used to try and figure out whether or not a fetus is positive for Tay-Sachs are called amniocentesis and chorionic villus sampling, or CVS (“Tay-Sachs Disease,” 2017). A chorionic villus sampling is a test that requires a needle entering a woman’s uterus. The amniocentesis takes amniotic fluid in much the same way. These tests are crucial to discovering whether a child will be born with Tay-Sachs or will be just a carrier for it.

Conclusion

In conclusion, Tay-Sachs is a fatal disease that is caused by a genetic trait passed from parents to their children. It is highly fatal for there is no cure yet. Tay-Sachs is caused by a missing enzyme, Hex-A, which causes a buildup of GM2, a fat that can cause a cell to be shut down from the inside out (2014). Couples who are told they are having a baby with Tay-Sachs often opt to abort the fetus and those who have infants that later show the symptoms of Tay-Sachs eventually lose their child. The life expectancy for a baby born with Tay-Sachs is no more than around four years old. There has been some progress towards treatments for the disease, or ways to prevent an onset of the symptoms. Some of these treatments include “enzyme replacement therapy/gene therapy and substrate reduction therapy” (2014). There have been issues with the effectiveness of this type of aid because it is difficult to deliver the therapy to the brain “because of the blood-brain-barrier” (2014). The disease is a deadly one that severely impacts a fetus and whether or not it can survive infancy. Babies suffering from this disease can go blind, deaf or lose total control over their motor functions; just to name a few of the horrible symptoms.

References
·         Tay-Sachs disease. (2017). Columbia Electronic Encyclopedia, 6th Edition, 1.
·         Tay-sachs Disease. (n.d.). Retrieved January 24, 2018, from http://www.tay-sachs.org/taysachs_disease.php
·         Tay-Sachs disease. (2018, January 10). Retrieved January 25, 2018, from https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-causes/syc-20378190
·         Infantile Tay-Sachs Disease. (2014, April 18). Retrieved January 25, 2018, from https://bcm441.kericolabroy.bergbuilds.domains/diseases/diseases-h-through-n/infantile-tay-sachs-disease/