Gaucher 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. Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.
 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.
Note: As science advances, we continue to experience a fast-evolving landscape of potential new therapies. The families portrayed here offer 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.