Tay-Sachs is a rare genetic disease. Caused by gene mutations on chromosome 15, this disorder results in progressive neurological damage. There is no cure and it is always fatal. Most patients are young children, however, occasionally an adolescent or adult may develop late-onset Tay-Sachs.
The human body needs an enzyme called hexosaminidase A. This substance is responsible for breaking down GM2 gangliosides, a fatty substance. Individuals with this particular genetic mutation are unable to produce this enzyme, which results in a toxic build-up of gangliosides in the brain. Specifically, it affects the nerve cells.
When a child has Tay-Sachs, he will typically appear healthy and normal for the first few months after birth. Often, he will begin to display symptoms at about three to six months of age. As gangliosides continue to accumulate, the child will become deaf and blind. He will also be unable to swallow.
Parents may notice that their child has a heightened startle response to noises. Other common symptoms include loss of muscle strength, loss of motor skills, and even paralysis. Parents will observe delayed development and slowed growth. Children can be irritable, listless, and may suffer from seizures. They may also experience dementia.
Pediatricians who notice signs of Tay-Sachs will likely check the child's eyes. Patients with this disorder display a red spot in the eyes. The doctor will also run a blood or tissue test to check enzyme levels, specifically looking for the hexosaminidase A enzyme.
These symptoms become progressively worse. The prognosis for a child with Tay-Sachs is bleak, and patients typically die by the time they are four or five years old. Since there is no cure for Tay-Sachs, the doctor will recommend treatment options that serve to make the patient more comfortable.
If the child experiences seizures, the physician will likely prescribe an anti-convulsant medication to manage them. Patients who cannot swallow food will use a feeding tube. These tubes may be surgically placed directly into the abdomen, or the doctor may insert it through the nose. In addition, physical therapy can help with muscle tone and range-of-motion. Stimulating the muscles by physically moving them may help delay pain, joint stiffness, and loss of function.
Parents need to keep a careful eye on their child for signs of respiratory problems. Tay-Sachs patients often experience mucus accumulation in the lungs. Caregivers will likely be trained to perform chest physiotherapy (CPT). This consists of physical movements performed to loosen the mucus.
Since Tay-Sachs is a genetic disease, people who are at a higher risk of carrying the genetic mutation may have themselves tested prior to having a child. Both parents must be carriers of this gene malfunction in order for the child to be affected. A blood test may be used to detect possible problems among potential carriers, such as those of Askhenazi Jewish or Eastern European descent.