NGF Community Blog

[Video] Meet The Garay Family

The Garay family has three children: Diego, 9, Sienna, 5, and Annika, 3. Annika and Diego have Gaucher disease. This video shares their story.

Topics: Living With Gaucher Disease, Patient Journeys

Gaucher Disease Screening vs. Testing

Gaucher disease affects up to 6,000 people living in the United States. This rare disorder results from certain genetic mutations that occur on the GBA1 gene. In fact, more than 400 possible mutations can be present on this gene, and while some are more common than others, all can lead to the development of Gaucher… Read More »

Topics: About Gaucher Disease, Gaucher Disease Diagnosis

National Gaucher Foundation’s CARE Programs

It’s no secret that living with Gaucher disease can be pricy. Enzyme replacement therapy (ERT), the mainstay of Gaucher disease management, runs between $139,000 to more than $300,000 each year(1). Patients often encounter unexpected expenses, including fees for emergency services and travel costs, during the course of their treatment. Many people living with Gaucher disease… Read More »

Topics: About the National Gaucher Foundation, Financial Support

Psychosocial Impacts of Living with Gaucher Disease

Doctors and scientists have already made tremendous progress in the diagnosis and treatment of rare diseases, including Gaucher disease. However, many patients and families still experience a significant psychosocial burden. Often, those living with the disease must become their own “disease experts” as they navigate the healthcare landscape, deal with significant financial challenges, and learn… Read More »

Topics: Living With Gaucher Disease

[Video] Meet Nate: Gaucher Disease Patient Journey

For 10 years, Nate struggled to receive a diagnosis for his excruciating bone pain. He was finally diagnosed with Gaucher disease and made a miraculous recovery.

Topics: Living With Gaucher Disease, Patient Journeys

Are We Close to a Cure for Gaucher Disease?

Scientists have been searching for a cure for all genetic diseases, including Gaucher disease, for more than 40 years. Since inherited genetic disorders result from an altered sequence of genes located on chromosomes within each cell in your body, a cure must permanently reverse the underlying genetic mutations that cause Gaucher disease(1). Beginning in the… Read More »

Topics: About Gaucher Disease, Gaucher Disease Research

The 5 Most Common Ashkenazi Genetic Diseases

According to current estimates, as many as one in three Ashkenazi Jews, those with Eastern European descent, are carriers for certain genetic diseases, including Gaucher disease. Researchers think Ashkenazi genetic diseases arise because of the common ancestry many Jews share. While people from any ethnic group can develop genetic diseases, Ashkenazi Jews are at higher… Read More »

Topics: About Gaucher Disease, About the National Gaucher Foundation

NGF honors the life of biotech legend, Henri Termeer

National Gaucher Foundation is saddened by the sudden passing of Henri A. Termeer, the former chief executive officer (CEO) of Genzyme Corp. Described by a former colleague as “the dean of the biotech community,” Henri’s contributions to lysosomal storage diseases including Gaucher disease and other rare diseases are immeasurable. May his memory be for a blessing.

Topics: Gaucher Disease Treatment

Should your Medical History be in the International Gaucher Registry?

When it comes to improving Gaucher disease treatment, knowledge is power. The more data the medical community can gather on this rare condition, the better equipped they are to develop new ways of treating it. That’s where the International Collaborative Gaucher Group (ICGG) Gaucher Registry comes in. Launched in 1991, and directed by an international… Read More »

Topics: About Gaucher Disease, Living With Gaucher Disease

ERTs and SRTs: How They Work & What is New

For those whose lives are touched by Gaucher disease types 1 and 3, ERT (enzyme replacement therapy) and SRT (substrate reduction therapy) are often part of their regular routines. But in 1991, when the FDA approved the first form of ERT, this breakthrough felt miraculous, radically easing the disease’s signs and symptoms. This was followed… Read More »

Topics: About Gaucher Disease, Gaucher Disease Treatment

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