Tay Sachs disease is a terrible genetic disorder that consists in a relentless deterioration of the mental and physical abilities that shows up around the age of six months and usually results in death by the age of four. Tay Sachs disease can manifest itself under different forms, according to the age of the patient. The infantile Tay Sachs disease appears to develop in the six months after birth. The nerve cells are characterized by a high degree of deterioration, that affects the mental and physical abilities. The child suffering from Tay Sachs disease may become blind, deaf, unable to swallow, experience muscle atrophy and most of the times paralysis, or can develop other complications, that would eventually lead to immediate death.
The Tay Sachs disease is a recessive genetic disorder. This means that in the case when both parents are carriers, thus there is a high risk of giving birth to an affected child. There are cases when the Tay Sachs disease can be passed genetically from the parents to the children, without manifesting a genetic disorder. The development of improved testing methods has allowed neurologists to diagnose Tay Sachs disease with greater precision, by means of prenatal diagnosis.
Parents can undergo genetic examination, in order to determine whether they are the carriers of the Tay Sachs disease genes or not. Moreover, genetic testing can also determine whether the Tay Sachs disease is inherited by the child. Parents may opt for terminating the pregnancy, despite the fact that abortion raises many ethical, social and religious issues. Another way of determining whether the parents and the child are carriers of Tay Sachs disease is the preimplantation genetic diagnosis. The process consists in retrieving the eggs of the mother for in vitro fertilization. The mother can ask for the testing of the eggs to see if the embryo carries the Tay Sachs disease. The healthy eggs are implanted back into the womb. Although there is no cure for the Tay Sachs disease, the doctor can provide you with all the necessary information and advice.