Tay-sachs disease is a rare disorder that is caused from a missing enzyme that is used to break down fatty substances. The fatty substance is Gangliosides, which begins to build up to a toxic level in a child’s brain and begins to affect their nerve cells. As the disease begins to progress in the child, the control of their muscles weakens and it leads to blindness, paralysis, and eventually death. Symptoms begin to show in the first three to six months of an infant's life, but it can be detected before birth. Infant’s begin to lose control of their motor skills like, turning over, crawling, and sitting up. Exaggerated reactions occur when exposed to loud noises, seizures begin to occur, vision and hearing loss, and cherry red spots in the
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Children will start showing symptoms of the disease as early a three to six months of age. At this point the child will only live to about four to five years of age. “Progression is rapid” (Kim 2016). However, children that have the “juvenile form of Tay-sachs”(Kim 2016), usually show symptoms between the ages of two and ten. They usually pass away by the age of 15 years of age. The diagnosis of the child will best be determined when the child is taken to the doctor and the doctor will ask about symptoms and any hereditary family disorders. Many tests can be done to confirm the diagnosis, tests before birth can also be done. Tests before birth include, Chorionic Villus sampling (CVS), performed between the tenth and thirteenth week of pregnancy and amniocentesis, performed at the sixteenth week of pregnancy. If parents have these tests performed, a therapeutic abortion can be done. A therapeutic abortion is when a baby is tested before it is born for any abnormalities and is certain for death. However, if the baby is born and starts to show symptoms a blood test can be run to check the enzyme levels of their hexosaminidase. The doctor also will check the eyes of the child to look for a cherry red spot, that will form because of the disease. It will be recommended that the child see a pediatric neurologist to get further information on his or her
Children will start showing symptoms of the disease as early a three to six months of age. At this point the child will only live to about four to five years of age. “Progression is rapid” (Kim 2016). However, children that have the “juvenile form of Tay-sachs”(Kim 2016), usually show symptoms between the ages of two and ten. They usually pass away by the age of 15 years of age. The diagnosis of the child will best be determined when the child is taken to the doctor and the doctor will ask about symptoms and any hereditary family disorders. Many tests can be done to confirm the diagnosis, tests before birth can also be done. Tests before birth include, Chorionic Villus sampling (CVS), performed between the tenth and thirteenth week of pregnancy and amniocentesis, performed at the sixteenth week of pregnancy. If parents have these tests performed, a therapeutic abortion can be done. A therapeutic abortion is when a baby is tested before it is born for any abnormalities and is certain for death. However, if the baby is born and starts to show symptoms a blood test can be run to check the enzyme levels of their hexosaminidase. The doctor also will check the eyes of the child to look for a cherry red spot, that will form because of the disease. It will be recommended that the child see a pediatric neurologist to get further information on his or her