Tay-Sachs disease, while incredibly destructive to those it effects, is still a lesser-known issue. With around 16 cases of Tay-Sachs diagnosed each year, few know just how it occurs and what it does. Tay-Sachs is a progressive disease that eradicates nerve cells in the spinal cord and brain, causing paralysis and loss of motor functions. It almost always results in the death of the affected.
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
There are a few forms of the disease, but the most common of these is the one that appears in infants. Identified through a “cherry red spot” in the eyes, Tay-Sachs begins with slowed development and movements. It then progresses into the complete loss of motor skills, and as the infant grows into a child, they experience vision loss, hearing loss, paralysis, and seizures. Those affected with this type of Tay-Sachs rarely survive through childhood.
Even rarer forms of Tay-Sachs allow those affected to live into childhood, or even into adulthood, with extremely mild symptoms, such as Ataxia, weakness, and problems like mental illnesses or speaking difficulties. While Tay-Sachs disease is an autosomal recessive type inheritance, it’s most common in Ashkenazi Jewish heritage. Ashkenazi heritage is usually eastern or central European.
In the following sections, websites dedicated to the disease will be touched upon, and articles regarding Tay-Sachs will be evaluated. These resources will not only give an in-depth look at what exactly Tay-Sachs is in hopes to educate those who haven’t come in contact with something as severe. Not on that, but they will shed light on new advances made in search for the cure, as well as spreading the word of this truly horrific disease.
The first website regarding Tay-Sachs found was called, National Tay-Sachs & Allied Diseases, found at http://www.ntsad.org. This site gives wonderful insights to Tay-Sachs, support to those dealing with the disease, and how to parent a child with such a life-threatening illness. NTSAD gave examples of families who have suffered losses from Tay-Sachs, and these families offer support to those in need. Their website goes in depth, with clarifications about Classic Infantile Juvenile, and Late Onset forms of the disease. Most importantly, they have a section dedicated to videos and other Lysosomal Storage Diseases like Tay-Sachs. Their research section gives anyone looking for Tay-Sachs information clinical trials coming up, potential therapies that have been developed, and grant applications. Dedicated to finding a cure for this disease, NTSAD’s presence...