Sunshine was surely an attraction for Devra Barr when she chose Arizona for college.
But little did the Massachusetts native know that coming here would shed light on a health issue that had confounded her family for years.
Barr, an Arizona State University junior, was one of 134 individuals, ages 18-45, who participated in last spring's genetic-testing program sponsored by the Greater Phoenix Jewish Genetic Diseases Project, in collaboration with Jewish Family & Children's Service, the Council for Jews with Special Needs and the Deutsch Shalom Center at Temple Chai. Participants were tested for a panel of four genetic diseases prevalent in the Jewish community, Canavan disease, cystic fibrosis, familial dysautonomia and Tay-Sachs disease, at a subsidized cost of $36. The purpose of the program was to identify carriers and minimize the risk of having a child affected by one of the debilitating diseases.
Barr was found to be a carrier for familial dysautonomia.
When she received notification, Barr went online to research the condition; in Massachusetts, her parents, Elaine and Alan Barr did the same.
They concluded that Devra's brother, Jonathan, who had a number of serious health issues, most likely suffered from FD.
"Nobody put it together," says Elaine Barr of the disparate symptoms that plagued Jonathan, now 24, for years. Doctors had been unable to diagnose his condition and had treated him for an array of physical ills.
Jonathan was tested and the FD diagnosis confirmed, leading the Barrs to new doctors and protocols.
"Jonathan feels like he is making headway now that he knows what it is," says Elaine Barr, who says she and her husband have urged their extended family to undergo testing.
She says she is grateful to the Valley Jewish community for making the testing available - and thankful that her daughter chose to participate.
Initially, Devra says, she was hesitant to be tested, but her boyfriend, Jeffrey Wolf, and parents encouraged her to take advantage of the opportunity.
"We told her it was insurance in her back pocket (to be tested)," says Alan Barr. Wolf, who had already decided to be tested, says he felt it was essential for any couple that might consider marriage and children.
"It was important to know," says Wolf, a part-time ASU student and youth activities director at Har Zion Congregation, where Devra teaches Hebrew school. "And it was a golden opportunity to do it inexpensively."
He notes that testing provides important information that can affect family-planning decisions.
"Why wait till later if you can do it now?" he says.
A second genetic-testing program is planned for Sunday, April 2, 2006, at the Barness Family East Valley Jewish Community Center. The new location is part of the project's commitment to making the testing not only affordable but also accessible. Last year's testing was done at the Ina Levine Jewish Community Campus in Scottsdale.
For the second year, St. Joseph's Hospital Foundation will help underwrite the program, and the project is seeking another grant from the Jewish Community Foundation, which has helped support the project from its inception. Plans include expanding the number of optional tests that participants can choose beyond the panel of the four most prevalent diseases. Last year there were five: Bloom syndrome, Fanconi anemia, Gaucher disease, mucolipidosis IV and Niemann-Pick disease. Two additional options this year are maple syrup urine disease and glycogen storage disease.
Testing for these two diseases just became available, explains Becca Hornstein, CJSN executive director. It is a sign of hope for the future, she says.
"If you can find a way to test for a disease, then research can perhaps address or treat the disease," she says, noting that all the genetic diseases are significant and can have devastating repercussions for an individual and his or her family.
Efforts to educate the community about the genetic-disease project are under way. Contact Hornstein at 480-629-5343 or becca@cjsn.org to schedule a presentation.
She says that organizers were heartened by the response last year and hope to reach a larger segment of the community this year. Devra Barr's story points up not only the importance of testing but its potential impact.
"For those of us working on the project, we never know who the results can touch, since testing one person can affect a whole family," she says.
