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 and12 months, Juvenile between 2 and4 years old, and Late Onset in late adolescence (but can begin later). Only one form of Tay-Sachs occurs in a family. 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 effective medical treatment for Tay-Sachs. Symptom management and supportive treatment often focus on nutrition, hydration and respiratory care. Children with Tay-Sachs have a significantly shortened life expectancy.
For more information, visit the National Tay-Sachs and Allied Diseases Association website
How Palliative Care can Help
Pediatric palliative care is all of the specialized care not directed at treating the disease itself. Depending on the patient, it might include consultations with a child life specialist, social worker, nurse and/or nurse practitioner, music therapist, massage therapist, occupational therapist, etc. In short, palliative care is designed to provide relief from the symptoms, pain, and psychological and emotional stress of serious illness-whatever the diagnosis. The goals are to promote quality of life for the child, and to ensure that families are active in the child’s treatment, so that medical decisions are patient- and family-focused.
Palliative care is often confused with hospice and end-of-life care. It is intended for children and families living with a life-threatening or terminal condition, but pediatric palliative care is NOT hospice. In fact, palliative care is appropriate for any stage of the illness and can be delivered along with disease directed curative treatments.
Palliative care providers recommend that treatment begin as early as possible in the illness journey. Integrative care that includes palliative medicine can begin at diagnosis.
Ask your pediatrician to recommend a palliative care provider. You may also visit the Center to Advance Palliative Care (CAPC) website, which includes a directory of palliative care providers and hospitals by state.