Tay-Sachs
Teagan Kress
What is tay-sachs?
Tay-Sachs disease is a rare genetic disorder most commonly found in babies as little as 6 months. It results when an enzyme used to break down fatty substances (lipids) is absent from the body. Symptoms caused by Tay-Sachs will only get worse with age for many whom are struggling with the disease. Although it's most commonly found in children, symptoms of Tay-Sachs may begin to occur as late as one's mid-thirties.
Causes & Complications
Because the enzyme hexosaminidase A is absent from the body, the body will begin to lose function. Many complications include deafness, blindness, irritability, listlessness, and many other symptoms that make life difficult for an individual.
How to Test For It and/or Treat the Defect
One of the first signs of Tay-Sachs is a cherry-red spot on the back of the eye and lack of mental and physical growth. Very little can be done to help a victim of the disease. They can receive medication, respiratory care, some also need feeding tubes and physical therapy.
Life Outlook/Prevention
There's no cure for Tay-Sachs and many victims die between the ages of 4 and 6. A couple can receive genetic testing/counseling before having children.
Work Cited
"Tay Sachs Disease." WebMD. National Organization for Rare Disorders, 15 Aug. 2015. Web. 9 Oct. 2015. <http://www.webmd.com/brain/tay-sachs-disease>.
"Tay-Sachs Disease." Mayo Clinic. 21 Oct. 2014. Web. 9 Oct. 2015. <http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799>.