What is Tay Sachs Disease?
Tasacs (sometimes written as Tay-Sachs) is a hereditary disease that is deadly and has no cure. There are enzymes in the baby’s body that remove fatty protein and other wastes from the body thereby ensuring that smooth growth of the baby isn’t interfered with. However, with Tay-Sachs disease, the baby is born without the all important Hexosaminidase A (Hex A) enzyme which prevents fatty acids from building up in the child’s nervous system and tissues. The result is that the nerve cells are destroyed, leading to mental as well as physical complications. The disease is named after the two scientists that discovered and described the disease, Warren Tay, who was an ophthalmologist and Bernard Sachs who was a neurologist.
Causes of Tay- Sachs
Tasacs is an inherited disease and there is no other way of contracting it. If the genetic trait is inherited from only one parent, it does not pose any danger to the child. However, if the child inherits the genes from both parents, then they develop the disease which leads to the complications and eventually death. The chances of giving birth to a tasacs affected child for couples that are carriers is approximately 25 percent. On the other hand, the chances of such parents giving birth to a baby who is also a carrier are 50 percent. For this reason, the disease is normally common amongst a certain group of people or community. Bernard Sachs described the disease in Ashkenazi Jews who up to now, are the most affected by it. Other communities in which the Tay-Sachs gene is more prevalent are the Cajun who are found in Louisiana and some Ireland descendants. For all these three communities, the prevalence rate stands at 1 person in 27 people.
Diagnosis and Symptoms
Tasacs can be detected at birth. However, since the disease has no cure, it is normally advisable for couples to first get tested for Tay-Sachs gene before deciding to conceive. A blood screening test can diagnose the presence of Tay-Sachs gene in a person. In many circumstances, a Tay-Sachs test does not form part routine family health check-ups and one has to request for this test. During pregnancy, the disease can be detected in the fetus using the CVS (chorionic villus sampling) or the amniocentesis tests done at the 10th -13th week and the 16th week respectively. Symptoms of the Tay-Sachs disease in infacts start to manifest at the age of six months. The symptoms depend on the form of the disease, which are the juvenile form and the late on-set form. The early symptoms include an abnormal surprise reaction to sound and red sports appearing in the center of the child’s both eyes. Other symptoms include:
• Muscle weakness and eventually develops into paralysis.
• Gradual loss of vision and hearing
• Dysphagial, which is the difficulty in swallowing
• Fits that occur repeatedly
• Spasticity
Treatment and Prevention
Currently, tasacs doesn’t have a cure and the treatments available are only to ease the child’s pain and discomfort. If the disease is determined the early stages of pregnancy, termination of the pregnancy could be a viable option. However, the only way to prevent the condition disease is for couples to get screened and establish if they have any HEXA mutation before conceiving.
