Can a person with the Tay-Sachs disease live healthy life?

Unfortunately, individuals with Tay-Sachs disease face severe health challenges and have a shortened life expectancy. This debilitating neurodegenerative disorder, caused by a genetic mutation, leads to the accumulation of harmful substances in the brain and a progressive decline in neurological function.

From early infancy, those affected by Tay-Sachs exhibit developmental delays and a gradual loss of previously acquired skills. As the disease advances, it causes muscle weakness, vision problems, seizures, intellectual disability, and eventually complete paralysis. Patients typically require 24-hour intensive care and have a life expectancy of a few years, usually not exceeding five years.

While medical advancements can provide supportive care to manage symptoms and improve quality of life, currently, there is no cure or effective treatment for Tay-Sachs disease. Research continues to explore potential therapies, including gene therapy and enzyme replacement, but they remain experimental and at an early stage of development.

As of now, prevention through genetic counseling, screening, and prenatal testing offers the best option to reduce the incidence of Tay-Sachs disease and help couples make informed reproductive choices.