Perhaps one of the most confounding characteristics of HSS is its refusal to be characterized the same way in every patient. And because symptoms vary among patients, there is no single treatment, no one medicine, that is effective in every person.

"We are not dealing with one condition," said Dr. Kenneth Swaiman, who has studied HSS for 25 years. HSS is a syndrome, meaning that it is made up of a multitude of disorders. There is classical HSS, typical HSS, and there is atypical HSS, which is even more mysterious. Some HSS patients develop dementia; others don’t, Swaiman said. Typically patients have problems with speech or motor skills. Some have problems with both.

Swaiman and other physicians and scientists shared information about the disease and answered questions at the First International HSSA Family Conference. They were taking part in the First Scientific Workshop on HSS being held the same weekend.

Swaiman said while some families have tried chelation therapy and thought it helped, he is not convinced it makes a difference. (See the March, 2000, newsletter for a discussion of chelation therapy)

The main feature of HSS is a build up of iron on the brain, and some patients try chelation as a way to flush iron from the body. "I do not believe we have an adequate means to address the iron-storage problem," Swaiman said.

Can iron be reduced by nutrition? one parent asked. Dr. Susan Hayflick, a key HSS researcher, said scientists have no reason to believe a low-iron diet will help HSS patients. "Your brain steals iron, but your body still needs it," she said. James Connor, a researcher at the meeting, warned that HSS patients should avoid vitamin supplements that contain iron.

Neurosurgery also is risky and may not produce long-term improvements, Hayflick and others said.

For now, Hayflick is trying to learn more about the disease through a worldwide registry of 120 HSS families. She has learned that the disorder affects people regardless of their ethnic background. She believes she is close to identifying the gene that causes classical HSS - the top priority of researchers studying the disease. "We have very little understanding of this disorder," Hayflick said. But "we have the tools to find the gene."

Discovering the gene, however, is not the end of the story. She warned parents not to expect an immediate cure. "Translating a found gene to a therapy takes a good many years," Hayflick said.