Program addresses rare terminal disease

The difference between the pictures is shocking. One features a rosy-cheeked blonde infant. The other shows an overgrown toddler lying helpless in a crib. The pictures of six-year-old Stephanie Donegan, featured in The Philadelphia Inquirer Magazine last January, show the damaging effects of juvenile Tay-Sachs disease, a terminal illness from which Stephanie suffers. Tay-Sachs, the subject of a program held in Houston Hall last night, is a genetic disease that develops in children born without an enzyme that combats fatty substance in the brain. Without the enzyme, fatty acid attacks and destroys the central nervous system. It is possible for people to be carriers of the gene without having the disease. If each parent possesses a recesive Tay-Sachs gene, there is a 50 percent chance of producing a child who is also a carrier and a 25 percent chance of producing a child with the disease. Tay-Sachs is most prevalent among Jews of Eastern European descent, according to Nancy Donegan, Stephanie's mother. Due to generations of intermarriage, however, the disease is no longer confined to the Jewish community. The Donegans are an example of non-Jewish carriers of the gene. Doctors had difficulty diagnosing Stephanie because they did not expect her to have Tay-Sachs, Donegan said. There are three forms of the disease. Classic Tay-Sachs, which affects infants is the most common form of the disease. These infants are not expected to live past the age of five. "Can you imagine yourself not being able to swallow, constantly gagging and choking, not being able to see, yet hearing sounds, having seizures that take control of your body 20 times a day?" Donegan asked, describing her daughter's condition. The rarest form of the disease is juvenile Tay-Sachs, the form which afflicts Stephanie. Donegan said that there are only two known cases of juvenile Tay-Sachs and Stephanie is the only living one. Lastly, there is delayed on-slaught or adult Tay-Sachs. According to Susan Fishbein, many adult Tay-Sachs patients are misdiagnosed with various other diseases such as multiple sclerosis. It took four years of tests to properly diagnose her with Tay-Sachs. Their daughter, College freshman and Daily Pennsylvanian staff writer Bobbi Fishbein, has been researching the disease and arranged the program last night in Houston Hall. Fishbein said she was disappointed that no one attended the program, but not discouraged. She is planning more events for the future and is hoping that people will begin to realize the importance of being educated about Tay-Sachs. The Fishbeins and the Donegans said that although they were expecting more people, they are mainly concerned with being tested on Thursday. Marc Fishbein said that it is essential for all people of child-bearing age to be tested. "If you know, it's a lot easier to find support," he said. Free testing for all students is being offered at Hillel from 11 a.m. to 2 p.m. on Thursday.