Kevin Romer, whose son Matthew died of Tay-Sachs disease in 2003, speaks at Congregation B’nai Jeshurun on a difficult subject: prevention and early intervention for the disease.
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Testing for diseaseFebruary 07, 2008
Stuck for the perfect wedding present? Mindunn Rose has a suggestion: Give the gift of genetic testing. Rose was one of the members of Congregation B’nai Jeshurun in Short Hills who showed up on a recent Sunday morning to hear Kevin Romer speak on a difficult subject: prevention and early intervention for families at risk for Tay-Sachs — the incidence of which is particularly high among people of Eastern European and Ashkenazi-Jewish descent — and related genetic diseases.
Romer has more reason than most to care about this issue: He and his wife, LisaJane, lost their son, Matthew, to Tay-Sachs in 2003. Born in 1995, Matthew was diagnosed at six months, after the Romers noticed that “his eyes were not lining up properly.” After a pediatric ophthalmologist recommended surgery to correct that problem, the couple took Matthew for a second opinion. That doctor examined the boy’s eyes and detected the dreaded cherry-red spot — a definitive sign for Tay-Sachs.
The Romers were devastated and stunned: Both parents had been tested for Tay-Sachs carrier status before conceiving.
After the initial shock, Kevin Romer said, he and his wife had a decision to make. “The challenge became, ‘How do we as a family cope with adversity?’” They knew they needed a support network outside their family, but their early efforts were less than encouraging.
Community resources were meager. “The medical network in south Florida [at that time] was terrible,” Romer said. “There was just one medical geneticist who was driving up and down the highway from one hospital to another trying to service the needs of the entire south Florida region.” There were no laboratories or other research facilities in the area.
So the Romers decided to create the infrastructure themselves. The Matthew Forbes Romer Foundation conducts testing and education programs throughout south Florida and — in partnership with the National Association for Tay-Sachs and Allied Diseases, leading research institutions, and universities in the south Florida region — has set itself “an unprecedented goal of reaching clinical trials in three years,” Romer said.
Given their own experience, the Romers are understandably concerned about laboratory quality assurance. At the same time, Romer said, they do not want others to be scared off from carrier testing because of what happened to them. Despite the real problems with test processing and human error, he said, the carrier tests for Tay-Sachs and similar genetic conditions have a very high accuracy rate.
Romer with Richard Robbins, a B’nai Jeshurun brotherhood member.
Romer said that when he talks to people about genetic testing, he hears all sorts of inventive reasons for not being tested: These diseases are rare; it won’t happen to them; they’re too busy; they can’t afford the tests; they’re not Jewish; they’re not Ashkenazi; they already have healthy children so they can’t be carriers. Some of these concerns are legitimate: Genetic testing is expensive (thousands of dollars in many cases). Insurance does not consistently cover these costs, and even when it does, people have valid worries about discrimination.
But even when low-cost or free testing is offered, Romer said, many people still find excuses not to do it. He emphasized that testing is necessary for everyone — Jews, those married to Jews, and those with no connection to the Jewish community at all. Even for those opposed to abortion, testing is extremely important as an early intervention tool.
Romer acknowledged that Tay-Sachs and similar genetic diseases are rare even among Jews, and more so outside the Jewish community.
But “rare does not mean you can ignore it,” he said.
Romer’s appearance at B’nai Jeshurun was sponsored by the Brotherhood Speaker Series.
Testing for disease
ACCORDING TO the Jewish Genetic Disease Consortium, individuals can be screened for carrier status for all 11 major Jewish genetic diseases with one blood test. If a person is found to be a carrier, a genetic counselor can explain the implications of the finding. When two prospective parents are found to be carriers of a gene for the same disorders, a genetic counselor can provide important information and support, which may be helpful in making family planning decisions.
Although the results of these tests are highly accurate, there may be rare mutations that the test may not detect. The genetic counselor can discuss this and other concerns in more detail.
These diseases can occur in other ethnic groups as well. Individuals and spouses of partial or non-Jewish ancestry may still wish to consider carrier screening.
To find a testing center, call the consortium at 866-370-GENE (4363) or consult your OB/GYN or family physician.