Essay on Genetic Disorders

5772 Words 24 Pages
Tay-Sachs Disease

Foreword: Before beginning to read this review of the case study, please note that current events of today pertain more to preconception screening for genetic anomalies and genetic studies. Today due to preconception genetic screening many parents opt to terminate a fetus with fatal or painful anomalies; therefore a large portion of the research for parents who are expecting a child with Tay Sachs Disease was noted to be during an approximate 30 year span from the mid-1950’s to the early-mid 1980’s, thus older citings will be noted.
“Tay-Sachs parents say that their child dies three times—when the disease is diagnosed, when the child enters the hospital, and the final time.” (Atwater, 1964)
“How do you parent
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Over time, after a period of 3-9 months the child will begin to show signs of regression in physical activity, mental acuity, seizures, loss of sight, loss of swallowing ability, and decreased tolerance of sound and pain. The child will continue to decline until death occurs, early as 3 months and as late as 5 years of age. (Ainsworth, 2011) Tay Sachs is known as an autosomal recessive (AR) disorder. AR disorders are conditions that involve a transmission of two mutant genes to the offspring, one gene from each donor/parent. (see image below) (Burnett, 2007)
(Please note every pregnancy has a 25% chance of the infant being affected)
Since the last quarter of the 20th and 21st centuries, many women have changed the images their mothers portrayed in adulthood. In the 1940’s through the 1970’s society saw an influx of women into the working world, breaking away from the more traditional roles of stay-at-home moms, housewives, and homemakers portrayed by their mothers and grandmothers. More and more women are placing education and career before starting families; thus many women do not begin to have children until their 30’s some even later in their early 40’s. In light of the delay in childbirth many women have prenatal testing for congenital anomalies or preconception screening for hereditary or genetic disorders. Both the prenatal testing such as;

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