By: Rylie Vann and Laura Bertino
The cause of Tay-Sachs is the lack of a vital enzyme called beta-hexosaminidase A, Hex- A. Chromosome 15 is effected by this, causing a layer of fat to grow around the brain. It is the result of a recessive allele. If one of the parents is a carrier each of their children will have a 25% chance of inheriting the disease. There is 12 reported cases of Tay-Sachs in the United States each year there is a 1 out of 3,600 chance to get it.
- Destroys the nervous system
- Fat builds around the brain
- At six months development slows
- At two years the child has seizures and diminishing mental function
- The child can't crawl, sit up, reach out, or turn over
- The child becomes blind, cognitively impaired, paralyzed, and non-responsive
- Most children usually die by age five
Prognosis, Treatment, and Current Research
The survival rate of Tay-Sachs is 10% and the death rate is 90%. There is no know cure for the childhood form, there is only ways to make the patient more comfortable. Recently scientists have perfected a gene replacement technique, but this is expensive and doesn't work every time.
- People of Jewish, Irish, French-Canadian, and Cajun heritage are more likely to get Tay-Sachs
- It was named after Warren Tay because he was an ophthalmologist who fist described the cherry-red spot on the retina that is now a tell-tale sign of the disease, and Bernard Sachs, a neurologist who fist described the changes in the brain
- Symptoms of this disease usually occur when the patient is three to six months old
Imagine you DO NOT have this disorder, but you marry someone that does. Create a Punnett Square to show the chances that your future children would inherit this disorder. This Punnet Square show the percentages that your children would inherent the disease.
Person Living with Tay-Sachs
Meet, Seth, the oldest child living with Tay-Sachs. Seth was born in 2002 and is 11 years old. Seth is not a normal child, "he's very special," says his mom, Crystal. Anything having to do with the nervous system is slowed, and Seth can't move or talk. “We believe every day is a miracle,” Crystal said at Seth's latest birthday party. They said that his disease was found by the eye doctor and later confirmed by Mayo Clinic in Rochester, Minnesota, a day that struck a devastating blow to the England family. “He's not just another child. He's special,” she added. “He has gifts just like everyone else. Just because he can't move his body doesn't mean that he doesn't have gifts. He has courage. He's been through so much. He's been poked and prodded and tested. He's been through so much. He never complains. He's strong and he always comes out on the other side.” Seth has 2 siblings that have not shown symptoms of Tay-Sachs.
"Tay-Sachs Disease." Wikipedia, the Free Encyclopedia. N.p., 17 Mar. 2011. Web. 5 Feb. 2015.
"Tay-Sachs Disease - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. N.p., Oct. 2012. Web. 5 Feb. 2015.
"Tay-Sachs Disease." KidsHealth - the Web's Most Visited Site about Children's Health. Ed. Louis E. Bartoshesky. Nemours Foundation, Oct. 2008. Web. 5 Feb. 2015.
Chromosome 15. Digital image. Http://imgkid.com/tay-sachs-disease-eyes.shtml. IMG Kid, n.d. Web. 10 Feb. 2015.
Tay-sachs Disease ::. (n.d.). Retrieved February 10, 2015, from http://www.tay-sachs.org/taysachs_disease.php
[Diagram of Tay-Sachs]. (2013, March 27). Retrieved February 10, 2015, from http://abclocal.go.com/story?section=news/health&id=9036458
[Tay-Sachs acronym]. (n.d.). Retrieved February 10, 2015, from http://www.medical-institution.com/tay-sachs-dise...mnemonic/
Research. (n.d.). Retrieved February 12, 2015, from http://www.tay-sachs.org/research.php
Happy birthday Seth. (n.d.). Retrieved from http://www.bhpioneer.com/news/article_26c22169-fe54-59ab-88ca-7b0fbe59d0cc.html