When people find out Shirley Webb has late onset Tay-Sachs disease (LOTS), their reactions have ranged from “But you’re older than 5 years old!” to “Why are you alive?” Once, at work, someone saw her pull away from her desk in her wheelchair and exclaimed, “I didn’t know you were crippled!”
At 66, Webb, a co-founder of the Late Onset Tay-Sachs Foundation, is among the oldest LOTS patients. Anticipating this year’s ninth-annual Late Onset Tay-Sachs Conference, which was held in Philadelphia in July, Webb said she looked forward to spending time with people who understood her often misunderstood disease.
“At the conference, we function like a family, even though we all have different mutations [of LOTS] and combinations of symptoms,” she said. “We all speak the same language.”
Although there are no definitive numbers, Judy Kaplan, the newly elected president of the foundation, estimates that there are 200 people worldwide who have the disease. The annual conference is often the only time that those afflicted can meet, commiserate and socialize with others who have such a rare condition.
Dr. Gerald Hurwitz, a psychiatrist who has treated LOTS patients and written about the psychiatric effects of the disease, led a stress-management session on the second day of the conference. Depression is a neurological side effect of LOTS, and coping methods of dealing with it were discussed.
Hurwitz stressed the importance of getting out of bed in the morning and partaking in some kind of physical activity that was possible for people with the disease, considering their physical limitations. (At least one-third of the session’s participants were confined to wheelchairs or used other devices to aid in their mobility.)
“Our bodies have a certain amount of energy,” Hurwitz said. “That energy needs to go somewhere if you don’t use it.” Hurwitz explained that patients’ unused energy stores can result in mood swings if not expressed physically.
Participants compared notes about keeping busy and getting out of the house, since many of them are not able to work outside the home. One man described how he volunteers at a school for disabled children because it puts his own illness into perspective when he sees people worse off physically then he is.
Another issue discussed was the frustration patients feel when the general public is ignorant about their disease, which is a genetic disease that can be inherited by someone whose parents are both carriers.
“Everyone knows what multiple sclerosis is,” said one woman. “But no one knows what late onset Tay-Sachs is.”
The 60 patients and their family members attending the conference knew too well the devastating effects of the disease, which include weakness, trembling and trouble with walking and speech. In addition to learning about the current advancements in research for treating LOTS, the conference was also conceived of as an opportunity for participants to get together, socialize and have fun. Participants took part in a Casino Day during which they gambled at roulette wheels for prizes and socialized with other group members at a 1960s-themed dance.
The LOTS foundation’s Kaplan, whose daughter Linda suffers from the disease, stresses the importance of social activity for patients.
“Disabled people are often very lonely,” she said. “People tend to shy away from them. This conference might be the only social activity they get all year.”