Appeal Decides Fate of Boy With Rare Sanfilippo Syndrome

May 11, 2009— -- A month ago Penny Lopez of Lakewood, Wash., faced some of the worst news doctors could give. Two of her three young children have Sanfilippo syndrome, a rare genetic disorder found in 1 in 70,000 people that will slowly lead to mental decline, spasms, wheelchairs and, ultimately, an early death.

But then, even more excruciating words: There may be a treatment with a glimmer of hope for one child, but her health insurance denied coverage of the $700,000 stem cell transplant.

Lopez says she fought to get 5-year-old Hannah and 1-year-old Aiden diagnosed, and so she'll fight to get treatment too. Although Hannah started showing symptoms in infancy -- she only started crawling at 12 months -- it took until Thanksgiving of last year to confirm her diagnosis. Aiden tested positive for the same syndrome later, on March 3.

Lopez said that although each child now has a confirmed diagnosis, doctors offered little else.

"They said there is no treatment, no cure for it. They gave us no hope," said Lopez. "I did research on my own, and I found doctors at Duke University who were studying this."

One of those doctors is Paul Szabolcs. Because of the nature of Sanfilippo, he says there's more hope for Aiden than there is for Hannah.

"Children can never be normal with Sanfilippo," said Szabolcs. "What we are hoping is that further deterioration can be halted and to some degree some new milestones can be reached."

Szabolcs said children with Sanfilippo lack an enzyme that helps the body clear old sugar molecules from cells. Year by year, the molecules build up, causing irrevocable damage to the brain and other organs.

"Typically what happens in Sanfilippo is they keep learning until they are 2 years old, and then they stop learning, and they are stuck and in some cases start declining," said Szabolcs, who is an associate professor of pediatrics and assistant professor of immunology at Duke.

Children lose words, their livers swell, eventually they start seizuring and, Szabolcs says, "the majority may die within the teen years with seizures and complete mental retardation."

"The hope is here that we are providing the enzyme to Aiden at not too late of a stage," said Szabolcs.