Tay-Sachs Disease
Tay-Sachs Disease (TSD) was discovered by Warren Tay (1843-1927) and Bernard Sachs (1858-1944). Tay studied medicine at London Hospital and then became an assistant surgeon. He also had glaucoma and was known as “a walking encyclopedia.” Sachs was an American Neurologist and moved to Europe to study with great physicians. They discovered it from a cherry red spot on the retina of the eye.
TSD is caused by a single recessive gene that both parents must have. When both parents are carriers they have a 25% chance to have an affected child. Tay-Sachs is disease of the nervous system found in Jewish people and those of Eastern European ancestry. It is also found in French Canadians and Louisiana Cajuns. Children with this disease lack an enzyme called hexosaminidase or hex A. Hex A helps break down a fatty acid in the brain and without it brain cells get destroyed.
During the pregnancy of the child until the age of 6 the child appears healthy. Some of the first symptoms include: loss of vision, abnormal startle and response convulsions. Infants stop smiling, crawling, turning over, reaching out and grasping. They also have doll like faces, translucent skin, pale-pink coloration and long eye lashes. By the age of 2 the child with TSD has recurrent seizures and almost no mental status. As the disease progresses, deterioration of all functions leads to blindness, mental retardation, paralysis and death by the age of 5.
Carriers are not physically affected and usually don’t have a history of the disease in their families. One in twenty five Jews in USA are a carrier for TSD. More and more cases are now found more in non Jewish people. There is no cure or effective treatment for TSD. Doctors are trying to use stem cells as a treatment. The best thing to do is make the child as comfortable as possible and be very supportive.
If couple are identified as carriers before pregnancy, they should consider adoption or sperm donation. If both...