Gaucher disease (Gaucher's disease)
As a result of research, development and years of education and outreach, there are thousands of people who have been diagnosed with Gaucher disease. It is the most prevalent Lysosomal Storage Disorder (LSD) in the world and is present in approximately 1 in 20,000 live births.
These are a group of disorders that affect specific enzymes which normally break down materials for reuse in the cells. If the enzymes are missing or don't work properly the materials can build up and become toxic.
Although Gaucher disease can affect anyone, Gaucher disease type 1 is the most common inherited Jewish genetic disease affecting Jews of Ashkenazic descent. Approximately 1 in 450 have Gaucher and 1 in 10 are carriers.
Since Gaucher disease is an autosomal recessive disorder, both parents must carry the Gaucher gene in order to pass it on to their children. It is imperative that we become better educated about Gaucher disease, especially if there is a family history. Presently, there is no cure for Gaucher disease, however there are a number of treatments available, including palliative care. Course of treatment is determined by a Gaucher specialist.
Gaucher disease, also known as glucocerebrosidase deficiency, occurs when a lipid called glucosylceramide accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. Depending on the type, Gaucher disease symptoms can include fatigue, anemia, easy bruising and bleeding, severe bone pain and easily broken bones, distended stomach due to an enlarged spleen and more.
Unlike 1984, when research on the first drug was being conducted, today, there are many options, tools, treatments and programs available for those with Gaucher disease. Because of the progress and great strides that have been made, our children and our grandchildren may never have to suffer the debilitating and painful affects of Gaucher disease.
Learn more about Gaucher disease treatments, symptoms and programs by clicking the menus below.
Prevalence/Transmission | Symptoms | Testing | Treatments | Clinical Course | Gaucher types 2 and 3
Gaucher-related Videos | Resources | NGF Gaucher Network Registry | Mentor Program
The National Gaucher Foundation, Inc. (NGF)
The National Gaucher Foundation, Inc. welcomes you to its website. Whether you or your family members are newly diagnosed, misdiagnosed or are currently being treated for Gaucher disease, we want you to know that you are never alone and will always have a place to turn. The Foundation comprises a talented and dedicated group of people who have contributed to its sucess for more than 31 years. We are here to here to help you find physicians, treatment, financial assistance and information related to all aspects of Gaucher disease.
We are the only independent, non-profit organization of its kind serving the Gaucher community in the US. Founded in 1984, the NGF funded millions of research dollars toward the cause, treatments and cure for Gaucher disease. We are an objective, independent voice of the Gaucher community, providing leadership, outreach and innovative thinking. The number of families and individuals affected by Gaucher disease have grown tremendously, necessitating more services and programs. Since its founding, the NGF has risen to the challenges those needs presented by fostering growth and development of its programs and services.
The NGF provides support and help by granting financial assistance and lobbying for legislation on behalf of Gaucher and other rare diseases. Our patient meetings, conferences, events and marketing programs have provided education and awareness of Gaucher disease for more than 30 years. More recently, other programs important to the Gaucher community have been added and include a Mentor program and the first patient-centered Gaucher registry (GNR).
For more information, contact firstname.lastname@example.org or call 800-504-3189.