Gangliosidosis (GM-1) is an inherited Lysosomal storage disease that progressively destroys neurons (nerve cells) in the brain and spinal cord. The signs and symptoms of the most severe form of GM1 gangliosidosis, called Type I or the infantile form, usually become apparent by the age of six months. Affected infants typically appear normal until onset, but developmental regression (loss of acquired milestones) eventually occurs and muscles used for movement weaken. There is currently no effective medical treatment for GM1 gangliosidosis. Symptom management and supportive treatments often focus on nutrition, hydration and respiratory care. GM-1 has a shortened life expectancy. For more information, visit NTSAD.org.
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.