Gaucher - Almost 10% of Ashkenazi Jews 'At Risk'
By Alana Goodman
While Gaucher disease is not as well known as Tay-Sachs, it can affect anyone and is the most common Lysosomal Storage Disorder among the Ashkenazi Jewish population. One out of 10 to 15 Ashkenazi Jews carry the gene that causes it. The National Gaucher Foundation is on a mission to raise awareness about the disease, and it could just help save your life or the life of a loved one.
The National Gaucher Foundation (NGF) was founded almost 25 years ago to fund research, raise awareness, and educate people about Gaucher disease.
The symptoms of Gaucher disease (pronounced “Go-shay”) vary in severity, and include lethargy, susceptibility to bruises and bleeding, easily fractured bones and bone pain, enlarged liver and/or spleen, and a swollen mid-section. Unfortunately for many Ashkenazi Jews, who account for more than 50% of Gaucher sufferers, these debilitating symptoms are often overlooked or misdiagnosed.
CEO Rhonda Buyers has been with the NGF for 14 years, and constantly sees people with Gaucher disease not getting the proper care. “Some people are undiagnosed for years and think the way they feel is normal. Once they’re diagnosed and treated they’re amazed at how good they actually feel.”
Cyndi Frank, Director of Development for the NGF, is familiar with this problem. As a child, she was diagnosed with everything from malnutrition to leukemia before discovering that she had Gaucher. Her advice to other sufferers is to be proactive. “There is a treatment, so get out there and get tested.”
Gaucher can be diagnosed through a simple blood test, and the most common treatment for the disorder is enzyme replacement therapy every two weeks. If the disease goes undiagnosed or untreated, it is possible for serious medical problems to occur, including death.
To foster awareness within the Jewish community, the NGF began a marketing campaign in 2000. “The NGF was founded almost 25 years ago to fund research and find a cure, but little to no marketing was done and there was little awareness of Gaucher disease,” said Rosina Papantonio, the company’s Marketing Director.
Despite the obvious challenges that come with marketing a genetic disorder, the NGF does a great job at raising awareness in unique and innovative ways.
On August 11th, the organization is hosting its 15th annual Wachovia Golf Classic at the Lansdowne Resort and Spa (Lansdowne, VA). The charity event has raised hundreds of thousands of dollars for Gaucher research and education.
Last year, the NGF, in collaboration with Expression of Hope, sponsored by Genzyme Corporation, collaborated with the National Museum of Health and Medicine to educate people about Lysosomal Storage Disorders. As a result, the exhibit, “Expression of Hope,” ran at the Museum for about six months. EOH features works by artists who are affected by Gaucher Disease and other genetic disorders such as Pompe and Fabry Disease.
One of the most exciting new projects is the NGF’s Gaucher Mentor Program, which can be accessed through the NGF’s website at www.gaucherdisease.org. The program connects individuals with Gaucher disease with mentors who have had similar experiences. And these mentors aren’t just sympathetic ears—they have all participated in an extensive training program and either they or a family member has Gaucher disease.
Stacey Feuer, a mentor who was diagnosed with Gaucher 11 years ago, believes that the program will help combat both the isolation and confusion that many people feel after being diagnosed with a rare disease. “Having a mentor would not only have helped [my family and me] to feel less isolated and alone, but to more quickly and accurately find important information, resources, and support at the beginning of the journey, when it was most needed.”
In addition to raising awareness in the Jewish community, the NGF also funds research for new treatments. “For the first time in a long time I am able to say that there is research going on for alternative treatments,” said Buyers. The alternative treatments being tested include pills which would be a welcome change to the bi-weekly enzyme replacements.
Frank, who is responsible for the group’s fundraising, has a personal interest in ensuring these treatments become successful. “I call the infusions my ‘ball and chain’,” she laughs. “But they have given me my health back and my life back. Once we find a pill treatment, then I can move to a tropical island.”
The NGF also offers financial assistance programs, supports legislation, publishes a quarterly newsletter, holds international conferences, hosts live web meetings, and creates patient support groups. All of this, miraculously, with just five employees.
Papantonio explains their dedication. “We can never stop working—if we stop, who’s going to do all of this?” she asks. “This is the most rewarding, most fulfilling job I’ve ever had. This is different. This has become a mission.”
When asked how the Jewish community can help raise awareness for Gaucher disease, Buyers said simply, “Just help get the word out. We have a limited amount of money…one of the problems is we’re very small.”
Another way to help is to get tested. The genetic trait that causes Gaucher is recessive, and many parents may be unaware that they are carriers. According to Frank, “If people are tested or parents know they are carriers, they can make an educated decision as to the next steps they should take.”
Buyers also suggests sharing this article with family and friends. “What we find is that people will pull out these articles [on Gaucher], and while they may not use the information, they will send it on to someone they know. It is important for people with Gaucher to understand what it is, and also understand that there is a treatment for it.”