Tay-sachs disease

Tay-Sachs Disease is a rare Genetic disorder that you can get from both parents. Most everyone with this disease will die between 4 and 5 years of age no matter what treatment they receive. Tay-Sachs disease is the absence of a vital enzyme and it currently has no cure. If you have it one may feel faint or like they are wasting away. There are three forms of Tay-Sachs disease Classic Infantile, Juvenile and Late Onset or Chronic Tay-Sachs.

What is Tay-Sachs Disease
Tay-Sachs is a rare and terminal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. The absence of a vital enzyme (hexosaminidase-A (Hex-A)) is the main cause of it. This enzyme breaks down a fatty acid that without it, will build up in nerve cells and cause them to die. The most common form of Tay-Sachs appears in infancy. It is a type of lipid metabolism disorder.

Symptoms
A baby with Tay-Sachs disease may seem to be healthy at birth, and may be developing normally for a few months. You would start to see symptoms generally by six months of age. Most children by about two years of age, experience recurrent seizures and diminishing mental function. Symptoms often include deafness, progressive blindness, decreased muscle strength, increased startled response, paralysis or loss of muscle function, seizure, muscular stiffness (spasticity), delayed mental and social development, slow growth, red spot on the macula (an oval-shaped area near the center of the retina in the eye). Progression is fast, and the child will typically die between the ages of 4 and 5 years old. The child may eventually get to the point where they feel faint or like you are wasting away.

How can you get it
Tay-Sachs carriers are found most frequently among families of eastern European Jewish descent (Ashkenazi Jews). In the United States today, approximately one in every 27 Jews is a Tay-Sachs carrier. They are also found in Irish, French-Canadian, and Cajun heritage. Tay-Sachs is a genetic disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the bad gene to their child. There is a 25% chance of the child having the disease.

Who were Tay and Sachs
The disease was named after Warren Tay, an ophthalmologist who first described the cherry-red spot on the retina that's now the marker of the disease. It was also named after Bernard Sachs, a New York neurologists who first described the changes in the brain and the prevalence among Ashkenazi Jews

Video
i28OVh8kBuQ The life of a boy with Tay-Sachs disease.