Gaucher disease is an inherited lysosomal storage (metabolic) disorder in which harmful quantities of a fatty substance called glucocerebroside accumulates in the spleen, liver, lungs, bone marrow, and in some forms of the disease, the brain. There are 3 types of Gaucher disease each based on the presence or absence of early-onset brain involvement.
- Type 1 is the most common form in Western countries and in this form brain development is normal. Type 1 is currently treatable.
- Type 2 is rare and involves severe neurological (brain) abnormalities. It is usually fatal within the first 2 years, and it is currently untreatable.
- Type 3 is rare in the United States and Europe; however, it is the most common form of the disease worldwide. Individuals with Type 3 have some neurological involvement but with the currently available treatment can live into their 50’s.
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.