Sunday, January 24, 2016

So, you ask what is Tay-sachs? Many people have no idea what disease this is. Here... I'll tell ya.

Tay-Sachs is rare and passed from parent to baby. We have thousands of enyzmes in our body. In tay-sachs disease, there is a lack of a specific enzyme that breaks down fatty acids in the brain.

Missing this enzyme (which I'll describe in detail later) leads to a build up of toxic levels. This build up consists of fatty acids. Due to the body not being able to rid itself of certain fatty acids, the nerve cells are impaired.

This leads to blindness, paralysis, and death. A baby with tay-sachs will start showing symptoms at about 6 months old. Sadly, there is no cure.

Scientists are working on transferring the needed enzymes to these affected infants, however it is still being studied. At this point in time, there is only one method of prevention: to NOT have babies if both parents carry the gene. This is extremely challenging to ask of parents, so teaching must be a priority to them.

http://www.who.int/genomics/public/geneticdiseases/en/index2.html

This is an image of a child with tay-sachs disease. Found via google images.

Sunday, January 17, 2016

I have become curious to what Tay-Sachs disease is really like. And as a future parent someday, it would scare me to death to not know what my child has. So let's go deeper shall we?