Saturday, Jul. 23, 2011

Grant allows Rolesville charity to grow, lets research progress

AHC Foundation holds national conference in Wake County

Paralysis can strike Rolesville preschooler Matthew Wuchich at any time.

There is no visible warning, but the 4-year old can sense when it's coming. Just before the seizure shuts down one side of his body, Matthew looks down.

"Bye-bye, arm," he says.

Matthew was born with alternating hemiplegia of childhood, a permanent disorder that causes temporary paralysis of one or more limbs that can last minutes or days. His big brown eyes helped win the nonprofit AHC Foundation $250,000 in the online Pepsi Refresh grant competition last year.

Six months in, the money has allowed researchers to start whole genome sequencing, an expensive procedure that they hope could lead to a treatment or cure for kids like Matthew. The grant also has freed up cash to bring back the nonprofit's national conference, held in Cary this weekend, for the first time in three years.

"It's shown us that the impossible can happen," said Jeff Wuchich, Matthew's father and president of the foundation. "People say it's impossible to find a cure for AHC - well, they thought it would be impossible for a little organization like us to win Pepsi Refresh, but we did."

At the conference, which ends today, about 40 families from as far as Montreal and Iceland gathered at the Embassy Suites in Cary to meet with leading specialists and strengthen the AHC family support network. Half signed their child up for evaluations with researchers from the University of Utah to help track down the root of the currently incurable condition.

Paul and Renee Hodes of Shrub Oak, N.Y., answered behavioral questions about their daughter Lisa in a hotel room Thursday as the 11-year-old fit pegs into small holes and criss-crossed the room barefoot so researchers could watch her walk.

The process is always difficult, Renee Hodes said.

"It's a little heartbreaking to be in that room answering those questions, because it makes you think about the things your kid can't do," Hodes said.

The Hodes family attends every conference they can. Being an AHC parent can be lonely, Hodes said. With only about 100 documented cases in the U.S., even doctors often have never heard of the disease. True empathy is hard to come by.

"It's difficult to explain to people what it's like, when everything can be fine one minute, and then the next your child is in excruciating pain," Hodes said. "Your life is changed from something normal to where you can't do anything except try to help your child not be in pain."

Little more is known about the disease than when foundation vice president Lynn Egan's daughter Kathleen was diagnosed in 1993. Doctors still don't know what causes the condition.

That's where whole genome sequencing comes in. After years of trying and failing to identify the problem with other methods, the sequencing has been the "holy grail" for researchers, but out of reach because of its cost.

Then came the sudden infusion of $250,000. In March, researchers sent DNA samples from kids with AHC to a company in San Francisco for mapping, analysis and cross-referencing of any patterns the kids have in common.

"It's like getting the whole text of a novel from start to finish, when before it was like we were taking only every tenth sentence," pediatric neurologist Matt Sweney said.

Sweney is a clinician working with leading AHC researcher Kathryn Swoboda at the University of Utah. By identifying which gene or combination of genes are responsible and why, researchers hope they can then develop a treatment - and possibly even a cure.

The first step, the sequencing report, is expected by November.

Until then, Wuchich is in the midst of organizing a run/walk fundraiser in Rolesville on Sept. 10. The group continues to pursue other sources of research funding.

Life continues as usual for the kids and their cautiously hopeful families while they wait.

Matthew was diagnosed with diabetes in January, after being hospitalized with an attack of paralysis that immobilized the left side of his body for 10 days.

But he can walk on his own now, and his speech has become more coherent, Wuchich said.

Matthew is about a year behind his peers developmentally, a gap that is likely to grow as he gets older.

But Wuchich hangs on to his optimism.

"We still aim to change that," Wuchich said. "We don't give up. On anybody."