Tay-Sachs is a hereditary metabolic disorder caused by the absence of the enzyme HexA, which causes cells to become damaged and results in progressive neurologic deterioration. There are three forms, determined by the age of the child when symptoms first appear: Infantile typically presents between 6 and 12 months old, Juvenile between 2 and 4 years, and Late-Onset in late adolescence (but can begin later). All forms of Tay-Sachs have a shortened life expectancy. Symptom management and supportive treatment often focus on nutrition, hydration, and respiratory care. If a child has Infantile, older siblings are not at risk to develop Juvenile or Late Onset Tay-Sachs later in life. There is currently no cure or treatment for Tay-Sachs. There are several trials in development.
For more information, visit the National Tay-Sachs and Allied Diseases Association
Note: As science advances, we continue to experience a fast-evolving landscape of potential new therapies. The families portrayed here offer a perspective on coping with rare and/or life-limiting conditions. They also each represent a particular moment in time.
If you are considering a clinical trial for your child, please also see the Courageous Parents Network Guided Pathway on Clinical Trials.