Slideshow Image 1

Gaucher disease (Gaucher's disease)

Incidence and inheritance of Gaucher diseaseAs 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

National Gaucher Conference - Register Today!
For information and registration, click here!
Bethesda, MD - Oct 18 & 19, 2015

The National Gaucher Foundation, Inc. (NGF)

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 ngf@gaucherdisease.org or call 800-504-3189.

NGF's Gaucher Network Registry
Click here to register TODAY!
First secure patient-centered registry of its kind.

Support the NGF!

Through education and awareness programs, we can help individuals who have been misdiagnosed, undiagnosed or know nothing about Gaucher.

The money raised by the NGF helps fund awareness and outreach programs. Your donations make these educational programs possible.

Click here to donate!

NGF Mentor Program

The Gaucher Mentor Program provides people with Gaucher disease the opportunity to connect with others to share experiences, stories, and resources related to Gaucher disease. You have direct contact with individuals who have experienced and problem-solved many of the questions that families and individuals with Gaucher may have.

Click here for more information!

Financial Support

Much has changed in the Gaucher community. New treatments have been approved, new treatment facilities identified, and there are many changes in protocol. We at the National Gaucher CARE Foundation want you to know that the CARE and CARE+PLUS Programs are available to all individuals, whether you are on therapy or not.

Click here for more information!

What's new?

Parents seeks treatment for 4-year-old son's rare illness which causes stomach to swell
Parents seeks treatment for 4-year-old son's rare illness which causes stomach to swellJul 21, 2015 - The parents of a four-year-old boy who was diagnosed with a rare illness causing his stomach to swell to the size of a basketball are now seeking medical treatment to cure him. Read more
Cerdelga Patient Webcast
Jul 17, 2015 - Patient Interview and webcast with Dr. Pram Mistry. In this webcast patients share their treatment experiences. Dr. Mistry answers some of the most commonly asked questions about Ceredelga. Read more
Desperately ill Alrene yet to receive medication
Desperately ill Alrene yet to receive medicationJul 8, 2015 - THE life of a critically ill 5-year-old girl from Booysens Park hangs in the balance as her parents await the outcome of the government health department "procurement procedures" for the medication she needs. Read more
Crossing the Blood Brain Barrier
Crossing the Blood Brain BarrierJul 22, 2015 - According to Irwin Hollander, Ph.D., vice president for research and development at Lauren Sciences, "V-Smart™ for GBM, formulated with a potent anti-tumor agent, has promise as an effective new treatment for GBM patients. Read more
Nutrition: Banning trans fats is a healthy change
Nutrition: Banning trans fats is a healthy changeJul 21, 2015 - The U.S. Food and Drug Administration recently announced that partially hydrogenated oils or trans fats are no longer considered safe and will be banned from all foods in three years. Read more
How Climate Change Could Threaten The Nutrition Of Millions
How Climate Change Could Threaten The Nutrition Of MillionsJul 16, 2015 - The world already has a hard time properly allocating crucial nutrients to its 7.125 billion residents — and a new study published in The Lancet Wednesday suggests that global warming is only going to increase that challenge. Read more
Woman suffers rare disease after taking over-the-counter drug
Jul 21, 2015 - The Food and Drug Administration has recently asked for new warnings on painkillers like ibuprofen, saying these over-the-counter drugs do raise the risk of heart attack or stroke. But a different side-effect recently landed a woman in the burn unit at Vanderbilt. Read more
Young Boy Inspires Documentary Series
Jun 21, 2015 - Currently, they are working on a new series for TLC about people with rare genetic conditions. The documentary series will feature inspirational adults and children as well as, in some cases, their parents, carers, close family and friends. Read more
How can these scientists get their promising new drug to market?
How can these scientists get their promising new drug to market?Jul 21, 2015 - Raw TV has produced documentaries for networks in the UK and US including Discovery, the BBC and National Geographic Channel. Currently, they are working on a new series for TLC about people with rare genetic conditions. Read more
(EACT), S 139/HR 209 letter from CFF to rare disease partners
Jul 20, 2015 - See attached March 2015 Senate Coalition Letter sent on behalf of Senators Wyden, Hatch, Markey and Brown. Read more
The Cystic Fibrosis Foundation Applauds Passage of the Ensuring Access to Clinical Trials Act of 2015 in the U.S. Senate
Jul 16, 2015 - The Cystic Fibrosis Foundation applauds passage of a bill today in the United States Senate to remove barriers to participation in clinical trials for much-needed treatments of rare diseases or conditions, including cystic fibrosis. Read more
How to Discuss Genetic Disease with Your Loved Ones
Toolkits for rare diseases produced by Global Genes. This toolkit is based on the Global Genes Webinar “How to Discuss Genetic Disease with Your Loved Ones” that was originally webcast April 1, 2015. A replay can be viewed at http://globalgenes.org/april2015webinar/
Read more
Resource of the Month
Caring Voice Coalition, Inc.
Caring Voice Coalition is dedicated to improving the lives of patients with chronic illnesses. Our organization continues to accomplish its mission by offering outreach services that provide financial, emotional and educational support. Read more