What is Tay-Sachs?

A baby that has Tay-Sachs disease is missing an incredibly important enzyme called hexosaminidase A (HEXA). Enzymes are proteins that help control chemical reactions all throughout your body. Without HEXA, fatty proteins build up, which leads to brain and spinal cord damage.

The most common form of Tay-Sachs is infantile, for which there is no cure and has a survival rate of only a few years. Unfortunately, a child born with Tay-Sachs will not live past 5 years.

What are the signs and symptoms?

Babies born with Tay-Sachs have no noticeable signs of the disease for 3 - 6 months. However, usually after 6 months, the child gradually loses their ability to see, hear, and move. Around 24 months, a baby with Tay-Sachs will start experiencing debilitating seizures.

How is it diagnosed?

If a baby has movement problems or starts having issues with crawling or sitting up, parents or the baby’s doctor might suspect Tay-Sachs. An eye exam can be conducted, which, if they have the disease, will reveal a cherry-red spot in the eye, a formation caused by the accumulation of lipids in the retina. Further blood tests can be done to confirm the diagnosis.

Because of the rarity of this disease (one out of every 320,000 babies is affected), it is uncommon for parents to take a blood test prior to the baby’s symptoms appearing. Genetic testing is available for couples who may face a higher risk for having a baby with Tay-Sachs — which is hard to quantify, as carriers of Tay-Sachs show no symptoms of the disease.

What causes Tay-Sachs?

Tay-Sachs disease is a genetic disorder that is inherited recessively. This means that in order for the baby to have the disease, both parents must have the mutated gene. Other than genetic testing, which does not apply to a majority of parents, there is no way to know or prevent this disease from happening.