WASHINGTON (JTA) – Many genetic diseases long believed to primarily affect Jews may cast a wider ethnic path.
That’s the thrust of the “Expression of Hope” exhibit at the National Museum of Health and Medicine through March 2.
The National Gaucher Foundation and Boston’s Genzyme Corp., which produces the best-known therapies for these diseases, teamed up to produce an exhibit featuring 32 works by artists and patients from around the world whose lives have been touched by lysosomal storage disorders.
The two most commonly known of these disorders, Tay-Sachs and Gaucher’s disease, both predominantly affect Ashkenazi Jews, but more than 40 exist throughout the world and in most major ethnic groups.
Lysosomes are parts of a cell that contain enzymes that break down nutrients to their most basic form for absorption by the body. An enzyme deficiency makes it impossible for the nutrients to break down further, and they build up inside the cells. Lysosomal storage disorders are classified by the type of missing enzyme.
Organizers said the exhibit is part of an awareness campaign.
“Our work has really pointed up how prevalent Gaucher disease is,” said Rosina Cristalli, a spokesman for the Florida-based National Gaucher Foundation. “There are 3,500 to 5,000 cases in this country, and 50 percent of those who are being treated are Ashkenazi Jews.”
Cristalli cited an international study released last summer, however, proving that Gaucher’s cuts across ethnic groups.
“For years it was considered to be a Jewish genetic disease,” she said. The study “made it all the more serious. We don’t want people to think you can’t have this disease because you’re not Jewish.”
The second largest group of sufferers is Hispanic, Cristalli noted.
“So we have a two-pronged problem,” she said. “If Ashkenazi Jews still don’t know that they have the disease and there are over 11 Jewish genetic diseases, how are you going to tell other people that they have these diseases, too?”
Linda Rubenstein, who has Gaucher’s, was one of the first patients to agree to collaborate with an artist for the project.
Keitaro Yoshioga took the picture of Rubenstein and her family, grinning and in good health, using the world’s largest Polaroid camera.
Rubenstein, of Massachusetts, was diagnosed in 1992 at the age of 32. Atypically she didn’t show any symptoms, although she did notice she bruised easily.
“In 1991 I went for a physical and my platelets were low and my spleen was enlarged,” she recalled. “The doctors couldn’t figure it out.”
Rubenstein’s disease was discovered just as the first enzyme replacement therapy for Gaucher’s hit the market, and she’s been able to stay healthy with a monthly treatment.
She’s been a regular at meetings of the National Gaucher Foundation.
“We now get a lot of people at meetings who get diagnosed quicker but the old-timers, a lot of friends that had the disease before the treatment, went through serious bone crises, hip replacements, lost spleens. It’s really affected them,” she said. “You can’t reverse bone problems, but you can stop them from getting worse.”
Rubenstein never believed that being Jewish set her apart in having such a rare disease.
“I think it was more like before two Jewish people get married, they test you for Tay-Sachs. I never even think of it as Jewish thing,” she said. “It’s just a rare disease. I know people of all different backgrounds that have it, but being Jewish helped them [doctors] figure it out.”
Common themes such as flying, escape, travel and pain echo throughout the exhibit, which just concluded a world tour and is on display at the museum on the grounds of the Walter Reed Army Medical Center here. Each piece features a testimonial from the sufferer.
“I am ten years old and have MPS,” wrote Nicklas Harkins, who suffers from mucopolysaccharidosis and was one of several artists who depicted his disease as an overwhelming dragon. “My painting of a dragon expresses the courage that everyone needs when they have MPS.”
Grant Bowen, 13, of Calfornia flew to Washington with his mother to attend the exhibit opening in November.
“I am a swimmer and play basketball and take art once a week,” he wrote. “My painting is a bunch of bright flowers. I really like to use bright colors.”
Grant first developed symptoms of Gaucher’s disease at age 4, when he lost the ability to walk because of severe bone deficiencies. He had been adopted from a small, predominantly Jewish village in South America, but his parents didn’t have enough genetic information to be sure of his heritage.
“He was a healthy baby. Nobody saw it coming. He never got sick,” said his mother, Tina Bowen.
Though Grant was diagnosed quickly and responded well to the treatment, he still cannot participate in all of the sports he enjoys.
“We’re not sure if he breaks a bone if it will heal,” Tina Bowen said. “His medical issues are a continuing thing. He’s restricted in some life choices.”
Grant was amazed by the support he found from the exhibit participants. Since the exhibit opening he has become more active in speaking out about the importance of early diagnosis of and therapies for Gaucher’s.
“I hope one day in the future scientists will do stem cell research and find better treatments,” he said. “It’s a bad life if they don’t have treatments.”
The most recognizable symptoms of lysosomal storage disorders are skin blemishes, clouding of the cornea, muscle weakness, skeletal deformities, short stature, enlarged organs and declining function of the brain.
Enzyme replacement therapies are available for half a dozen of these diseases. Pioneering research using small molecules that can penetrate the blood-brain barrier has given hope to many patients.
“Some are onset at birth and some live several years [without knowing],” said Jennifer Heilman, a public affairs specialist at the museum. “With testing before and after birth, it’s possible to become more aware of the risks inherent to each child.”
Heilman noted variations on MPS diseases in China, South America and Europe. In the United States, though, many of the diseases indeed disproportionately affect Jews.
The carrier rate for Gaucher’s disease, for example, ranges from one in 10 to 15 people of Ashkenazi descent and one in 17 for Tay-Sachs disease. For the general population it’s one in 500.
If both parents are carriers, they have a 25 percent chance of having a child with Gaucher’s. The Gaucher foundation estimates that one in 450 to 600 Jewish Americans now has Gaucher’s disease.
One in 7,700 children of any ethnic group worldwide will be born with one of dozens of lysosomal storage disorders.
“We don’t want researchers studying Jewish diseases to say ‘that’s not my disease. that’s your disease, I can’t work on your disease,’ ” said Cristalli, adding that the Gaucher foundation has built enormous resources in its 23-year history that could be useful to patients with other diseases.
“We wanted to say that we’re a pan-ethnic disease and we’re one of few that has treatment,” she said. “Tay-Sachs got a lot of attention because it was fatal. Many of these are fatal. It’s not about gender or age or ethnicity. It affects anyone.”
