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Type 1 Gaucher disease is a rare genetic condition and the most common lysosomal storage disorder. It is thought to affect approximately 1 in 100,000 people in the general population. However, in specific populations, it’s much more common. For instance, in Jewish populations of Central and Eastern European (Ashkenazi) origin, the disease prevalence is 1 in every 855 people.
Gaucher disease occurs when an important enzyme called glucocerebrosidase is missing or doesn’t work the way it should. This means the body is unable to break down and recycle a specific kind of fatty substance, which then builds up, mainly in the spleen, liver, bone marrow and lungs.
Type 1 Gaucher disease is the most common of the 3 types of Gaucher disease. It is genetic, meaning it’s passed down through families. If both parents are carriers of a defective chromosome, there is a chance their child will have Gaucher disease.
Symptoms can be very different from person to person, even within the same family, and they can occur at any age. Some patients might not experience symptoms until adulthood.
Because type 1 Gaucher disease is rare and its symptoms can look similar to those in other disorders, healthcare professionals may have difficulty diagnosing it accurately. And, because the disease can progress at varying rates, diagnosis may also be delayed because symptoms might not appear right away.
To confirm a diagnosis, your doctor will likely run a blood test, which is used to measure glucocerebrosidase activity. Your doctor may also perform DNA analysis to see if there is a gene variation. DNA-based testing of a blood sample can identify variations, or mutations, in the gene responsible for the production of glucocerebrosidase.
Talking with other people who understand some of the challenges associated with being a type 1 Gaucher patient based on first-hand experience can give you ways to learn about type 1 Gaucher disease and build a support network. The following organizations offer a variety of resources and opportunities to get involved in the rare disease community.
Shire provides funding to the below organization in support of efforts that include, but are not limited to: research, education, meetings/events and support.
A rare disease umbrella organization that provides advocacy, research, education and patient services in the US. See how they help and find out how you can get involved.
The NGF helps support the Gaucher community through financial, educational and research programs. Follow them for the latest info and explore the resources on their website.
Jason has been amazing from the start. He is very knowledgeable and answered all my questions. He helped my family with the entire process including insurance approvals, which I think is fantastic.
– Amanda, Mother of OnePath Patient supported by Jason