Appeal Decides Fate of Boy With Rare Sanfilippo Syndrome

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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.

VIDEO: Insurance company denies toddler stem cell transplant.
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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.

Facing A Diagnosis, Fighting Insurance Denials

The Lopez family gets health care through TriWest HeathCare Alliance, which is management contractor for TRICARE -- the government-sponsored health plan for military families. For now, Szabolcs is waiting to hear the final word from TRICARE, located near Washington D.C.

Scott Celley, vice president of external affairs for TriWest HeathCare Alliance, said the decision to deny the Lopez family's treatment claims had nothing to do with cost.

"It will not matter at the end of the year, plus or minus a penny, whether we cover this or not," said Celley. "We deliver care for the military, but it is the military who sets the guidelines. When there are exceptions, the final decision on this thing rests with the military."

The TRICARE coverage policy will automatically cover stem cell transplants for cancer treatments. But the policy states that "benefits for rare diseases are reviewed on a case-by-case basis by the Director…"

Austin Camacho, spokesperson for TRICARE management activity, said the Lopez case "is in the appeals process right now" and will likely be resolved soon.

A team of both doctors and lawyers will have to decide the Lopez case since some TRICARE coverage is legislated by Congress.

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