Tay-Sachs disease is a genetic disorder that causes the brain to store harmful quantities of ganglioside. The substance builds up in the cells of the brain and surrounding tissues because there isn’t enough of an enzyme to break them down. Children with this disease will develop normally for the first few months of life, but then begin to slide into a deterioration that cannot presently be cured. Most children with Tay-Sachs disease wind up passing away by the age of 4. Here are some more facts about this deadly disorder.
1. There is a late onset version of Tay-Sachs that affects adults.
People in their 20’s and 30’s can actually develop a variant of this disease that causes them to have difficulty balancing and results in a progressive deterioration that is similar to what is seen in children with the classic form of the disease. Kids and adults both have one thing in common: there are some red spots that can be seen in their eyes, often described as looking like small cherries.
2. Both parents must be carriers.
The chances of getting Tay-Sachs disease are actually quite remote. Both parents must be carriers of the mutated gene that causes the disease in order for a child to get the classic disease. Even then, however, there’s a 3 in 4 chance that the child won’t have Tay-Sachs. They’d become a carrier for the disease as well, but would not experience any of the progressive deterioration that is the trademark for the disease.
3. No treatment exists for this genetic disorder.
Interventions for those who have Tay-Sachs are pretty basic and involve proper nutrition and hydration. If seizures are occurring, a doctor may prescribe anti-seizure medications that can control the issue. Otherwise the priority is to keep airways open so that someone can breathe. Eventually most people with this disease are going to need a feeding tube installed.
4. It causes muscles to seize up.
A number of neurological symptoms can affect someone with this disorder. It is very common for muscles to begin to seize up and then begin to atrophy. Children will eventually wind up being unable to see or hear. Eventually they are even robbed of the ability to swallow food. Startle reflexes are enhances and eventually dementia will set in if given enough time. Despite all of this, the main cause of death is typically exposure to multiple infections.
5. It affects two primary population groups.
The population that is most at risk for this disease are Ashkenazi Jews from eastern Europe, but more recently, those with a Cajun heritage have seen increases in carrier rates. In the general population, 1 in 250 are carriers of the malformation gene. In the Ashkenazi Jew population, 1 in 27 people are carriers.
Tay Sachs disease has deadly implications, but with more research and a grasp of these facts, the future doesn’t have to be so dark. Even if both parents are carriers, there’s a 1 in 4 chance that a child won’t be a carrier and won’t have the disease. That means there is always a little hope to be found.