General: Loving parents bring a child home from the hospital. This baby is beautiful, looking like a porcelain doll. The child appears healthy and happy, growing normally for several months. You think that the baby will be bright, showing alertness and eagerness. Something starts to happen to this baby. It starts growing weak and listless. It stops trying to crawl or sit up. It may have trouble swallowing. At first the parents think it might just be sick, but it loses muscle in its arms and legs. The parents take the baby into the doctor and he brings them horrible news. The child has Tay-Sach's disease. This beautiful baby will grow blind and deaf and will stop being able to breathe in five years. While this seems like a horrible scenario, it is all too common, and is the general symptoms of this genetic disease.
Chromosomal cause:This is an autosomal recessive condition, so both parents must be carriers. The gene which is damaged is on the long arm of chromosome 15. Because this gene is bad, it does not make the enzyyme hexsosaminidase (heck-so sa-men-a-dayse). This enzyme breaks down fatty acids. The result of this is that fatty particles get stuck in the brain. This causes serious problems. This disease is most common among Ashkenazi Jews and French Canadians and Cajuns.
Characteristics:
When a child with Tay-Sachs Disease is born, they appear like a beautiful, healthy baby. Development is normal for the first few months, but gradually the particles which accumulate in the brain cause problems. The child may grow blind, deaf, and paralyzed. The child is unable to swallow and must be fed with a tube. The child will grow very weak and die.
This is a rare disease, but is much more common among east European Jews. There is no prevention or cure for Tay-Sachs. Chiildren with this disease generally start to show symptoms between three and six months old, and die by the age of five. Other symptoms include loss of motor skills, increased startle reaction, decreased eye contact, blindness, deafness, seizures and a whole bundle of other neurological problems*
Tay Sach's Disease
Other Information: