Gaucher Disease Type 2

Gaucher disease type 2 is an inherited lysosomal storage (metabolic) disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Liver and spleen enlargement are often apparent by 3 months of age. Children typically develop extensive and progressive brain damage and many die by 2 years of age.[1] Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.

[2] While enzyme replacement therapy is available and may help alleviate enlargement of the spleen and liver, it cannot cross the blood-brain barrier. There is still no effective treatment for the brain damage that typically occurs in children with this devastating condition.

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.