This month’s premier podcast is focused on the basics of U.S. health insurance and how it affects Gaucher patients and their families. We spoke to Aviva Rosenberg, a healthcare attorney from Pittsburgh, Pennsylvania. She is passionate about educating people on genetic diseases and screening, as well as sharing her journey with Gaucher disease, and being… Read More »
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 »
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 »
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 »
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.
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 »
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 »
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.