Tay-Sachs:

Tay-Sacks-Disease (TSD) is a fatal degenerative disease of the nervous system that is found primarily (but not exclusively) among Ashkenazi Jews – those of East European ancestry.

TSD is one of the most tragic inherited conditions. The symptoms first appear at about the age of six months when an apparently healthy, happy baby stops smiling; crawling or tuning over, loses the ability to grasp or reach out, and gradually becomes blind, paralyzed and unaware of the surrounding world.

Death usually occurs by three or four years of age. Babies with TSD are born without a blood chemical that is necessary for breaking down certain fatty deposits in brain and nerve cells. The cells soon become clogged, causing the entire nervous system to stop working. Tay – Sachs disease is now known to be caused by the absence of a gene called hex A. The absence of the gene results in absence of the metabolic pathway necessary to prevent the deposition of damaging fatty deposits in nerve cells. Carriers of the gene (see below) make about 50% less of the enzyme required, but that is sufficient to protect them from nerve damage.

Treatment of Tay – Sachs disease

There is no cure or treatment to date that will prevent the disease from running its fatal course. Affected children can only be made as comfortable as possible. Manage the symptoms, like maintaining the range of motion, breathing exercises. To keep the child happy the important rehabilitation will keeping the air-way clear and breathing exercises.

Goshi’s Journey with a child with Tay-Sachs:

15 month old boy, who was suffering with Tay-Sachs, was treated by Goshi and the rehabilitation was very supportive for this particular child for good breathing pattern, free limb movement, improvement in muscle tone. Child enjoyed music, Child improved in emotional responses like smiling, griming of face and crying.