Jackson, Avery, and Julie
What is Tay-Sachs Disease?
Tay-Sach’s disease is a genetic inherited disease that can be inherited recessively. It works by slowly destroying nerve cells in the brain and spinal cord. There are a few different forms of this disease but the most common appears as an infant; from 3-6 months. As the nerve cells are destroyed, their muscles get weaker and slowly deteriorate.
Causes
Tay Sachs starts as a defective gene on chromosome number 15, this slows the body's production of the protein Hexosaminidase which brakes down chemicals in the brain. Without enough Hexosaminidase harmful chemicals build up in the brain and cause many terrible symptoms. People have the chance to be immune from the gene, be a carrier of it, or be a victim of it. Everyone has two copies of the HEXA gene, which is what causes Tay Sachs. But you only get the disease if both of the genes are not working properly. If only one is working properly, but the other has a mutation; then that person is a carrier.
Symptoms
The noticeable symptoms of Tay Sachs disease start to take their parts around 3 to 6 months of age. This is when the signs such as muscle weakness and sudden muscle contractions. During the 6 to 10 month stage, a child will start to have decreased movement and not meet the cognitive milestones that they should be meeting. Going from a year up, a child will begin to develop seizures around a year old, and a significant head size growth can happen around 18 months of age, this is one of the more noticeable symptoms. Death will usually occur between the ages of 2 and 4 from this disease. Other symptoms that occur include blindness, loss of hearing, mental retardation, increased startle response
Treatment
There is no known cure for Tay Sachs at this time. Usually the best way to cope with it is palliative care (keeping the person comfortable). There is a plethora of medications to help ease the many of the symptoms such as seizures or pain. Physical therapy can help slow the degradation of the muscles. Feeding tubes can help the babies eat because as the disease progresses the muscles used for chewing and swallowing eventually become to weak to do their job properly. The mental toll on the people taking care of the infants can be massive, it is beneficial to seek help from support groups. Talking to other families who are dealing with the same or similar problems can ease the mental toll.