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What is Tay Sachs disease?

Tay Sachs disease is a rare disorder that is inherited from both parents. The baby with Tay Sachs disease does not possess the important enzyme Hexosaminidase A (Hex A) which eliminates abnormal growth of fatty proteins in the brain.  This unnecessary amount of fatty tissues would destroy the important nerve cells in the system hence resulting to physical and mental developmental problems.

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The infant affected with Tay Sachs disease appears normal at first; but as the fatty tissues begin to develop, damaging the nerve cells, the baby would then lose mental and physical abilities such as hearing, seeing, and even swallowing. In some cases, the infant with Tay Sachs disease take nourishment through feeding tubes. Unfortunately, medical science still hasn’t found a cure for this disease. There are no medicines or surgeries that could save the baby. The child with Tay Sachs disease would usually die by age 4 to 5 years old.

Risk Factors for Tay Sachs disease

The Jews of the central and eastern European descent, or more popularly known as the Ashkenazi Jews, are at high risk to produce babies with Tay Sachs disease. Although it also sometimes happens in the United States and studies show that there is an average of 16 cases of babies with Tay Sachs disease in the US in one year. A child can only have Tay Sachs disease if both her/his parents are carriers of the defective gene. Blood screening test can be done to couples who are planning to start a family and who are at high risk or might be carrying the gene that causes the disorder. If the said gene is present in both parents, it is recommended that both of them seek advice from a genetic counselor.

 

Signs and Symptoms of Tay Sachs disease

On the first few months of the baby’s life, he/she is no different from the children who do not have the disease and can still live normally. Like any other baby, he/she would laugh, cry, smile, and move around. But as time progresses, the baby with Tay Sachs disease would slowly lose his/her ability to do all those. The sense of sight, hearing, and the normal movement would slowly deteriorate. One of the indicators of Tay Sachs disease is the presence of a red spot behind the child’s eye. By age two, the child often experience seizures and normal movements would be totally paralyzed.

 

Caring for the Child with Tay Sachs disease

There is still no treatment for Tay Sachs disease; however, the search for a cure is still ongoing. The best way to care for a child with Tay Sachs disease is to find ways to alleviate the symptoms. Doctors would usually prescribe medications that would help relieve the pain, control the seizures, and relax the muscles.

 

Tay Sachs disease is an unfortunate thing to happen to the parents and especially the child. If there is good reason to believe that a couple may be carrying the abnormal gene that causes Tay Sachs disease, it is important for them to first undergo blood screening before conceiving a child. Because there is still no cure, prevention is the best thing to do.

Tay Sachs disease pictures

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