As said before, Tay-Sachs is a heredity disease. It is recessive, where both parents have to carry the trait. The main research so far on how it started was way back, when a particular group of Jewish people, the Ashkenazi, had married and had kids in pretty close relations. Eventually, someone left the group into another, passing on the recessive trait. If a couple were to have kids, they have a 25% chance of having a child without any trait of Tay-Sachs, a 50% chance of having a child with the trait (carriers), and a 25% of having a child that actually had Tay-Sachs. Nowadays, anybody has a possible chance of having Tay-Sachs (1 in 360,000), but the ones mainly affected are the Ashkenazi (carriers: 1 in 30 chance, Tay-Sachs: 1 in 3,600 chance), the French Canadians in the Quebec area and the Cajuns in Louisiana (carriers: 1 in 30 chance for both backgrounds), the Irish (1 in 50 chance of carrying) and the Amish.
Normally, life for someone with Tay-Sachs can be pretty limiting. Someone can have started out with great mobility, attention and learnt skills, but as the disease progresses, these previously learned skills are reduced and mobility and use of the senses decreases. The time for things to happen depends on the age (type) when someone gets Tay-Sach. The later the symptoms means a more longer lasting time as the body slowly is damaged by the build up of GM2 ganglioside.
Interesting Facts
- The most common form, (Classic) Infantile Tay-Sachs, normally first showing symptoms around the months of 3 to 6, but the damage actually occurs before birth
- The mutation happens on chromosome 15
- Though it has a pretty specific trait, there are other diseases very similar to Tay-Sachs, like Sandhoff disease
- Even if Tay-Sachs is a very brutal disease, it isn't really a main focus on cures (though gene therapy and others can help) because so few actually have to be a huge concern
- Tay-Sachs is a lipid storage disorder
- Finding insurance to help is hard, but you must be persistent
- Hospices are a great place to help care and also find support for the family
- Best to take a enzyme and DNA test to get more accurate information if you have the trait for Tay-Sachs
