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Nathan's Story; Tay-Sachs Disease in the Irish Population

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Tay-Sachs Disease is a rare, inherited disorder that allows the destruction of the nerve cells in the brain and spinal chords.

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1. muscle weakness

2. problems with coordination

3. feeling faint

4. difficulty speaking and swallowing,

5. hearing and vision loss

6. seizures

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Hexosaminidase is an enzyme that breaks down GM2 gangliosides. High levels of GM2 gangliosides lead to high toxic levels and the destruction of nerve cells in the brain. This then reduces brain function so that one affected with Tay-Sachs Disease cannot survive.

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There is no cure for Tay-Sachs disease. Life expectancy in children with Tay-Sachs disease is 4 years of age.

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On chromosome 15 (HEX-A) there is a defective gene that does not allow the production of hexosaminidase.