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Tay-Sachs is a rare genetic disease that causes progressive neurological damage, affecting nerve cells. It is always fatal, with symptoms appearing at around three to six months of age. There is no cure, but treatment options can help manage symptoms. It is important for potential carriers to get tested before having a child.
Tay-Sachs is a rare genetic disease. Caused by genetic mutations on chromosome 15, this disorder causes progressive neurological damage. There is no cure and it is always fatal. Most patients are young children, however, occasionally a teenager or adult can develop late-onset Tay-Sachs.
The human body needs an enzyme called hexosaminidase A. This substance is responsible for the breakdown of GM2 gangliosides, a fatty substance. Individuals with this particular genetic mutation are unable to produce this enzyme, which results in a toxic buildup of gangliosides in the brain. In particular, it affects nerve cells.
When a baby has Tay-Sachs, they will typically appear healthy and normal for the first few months after birth. Often, it will begin showing symptoms at around three to six months of age. As the gangliosides continue to build up, the child will become deaf and blind. He won’t even be able to swallow.
Parents may notice that their baby has an increased 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 slow growth. Children can be irritable, listless, and may suffer from seizures. They can also experience dementia.
Pediatricians who notice signs of Tay-Sachs will likely check your child’s eyes. Patients with this disorder exhibit a red spot in the eye. Your doctor will also do a blood or tissue test to check enzyme levels, especially looking for the enzyme hexosaminidase A.
These symptoms get progressively worse. The prognosis for a child with Tay-Sachs is bleak, and patients typically die when they are four or five years old. Because there is no cure for Tay-Sachs, your doctor will recommend treatment options that will help make you more comfortable.
If your child is having seizures, the doctor will likely prescribe an anticonvulsant drug to manage them. Patients who cannot swallow food will use a feeding tube. These tubes can be surgically placed directly into your abdomen, or your doctor can insert them through your nose. Additionally, physical therapy can help with muscle tone and range of motion. Stimulating the muscles by physically moving them can help delay pain, joint stiffness and loss of function.
Parents need to keep an eye on their baby for signs of breathing problems. Tay-Sachs patients often experience mucus buildup in the lungs. Healthcare providers will likely be trained to perform chest physiotherapy (CPT). It consists of physical movements performed to loosen mucus.
Because Tay-Sachs is a genetic disorder, people who are at a higher risk of carrying the gene mutation can get tested before having a child. Both parents must be carriers of this genetic malfunction for the child to be affected. A blood test can be used to detect possible problems among potential carriers, such as those of Askhenazi or Eastern European Jewish descent.
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