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Clair Gibbs has spinal muscular atrophy, or SMA, a genetic disease that affects crawling, walking, head and neck control, even swallowing.
Doctor Kathryn Swododa, a pediatric neurologist and geneticist at the University of Utah, is an expert on SMA.
"It's actually due to a problem originating in the nerves that connect the muscles to the spine. They undergo degeneration so that you lose nerve fibers that innervate those muscles over time and get muscle weakness," she explains.
Garrett Lerner says his son Zeke had just turned when they first thought something was wrong.
"Zeke actually could stand with support and within a couple of months he lost that ability. It was as if his legs were Jell-o beneath him," he says.
A genetic blood test confirmed the diagnosis.
Unfortunately, there's no cure for SMA and no effective treatment. But that may be changing.
"Because there's new compounds, new medicines that are becoming available that look like they may really help make a difference in this disease," says Dr. Swoboda.
With that in mind, families and experts from around the world have come together to set benchmarks to measure how the children do on different medications, to see what works and what doesn't.
"So we're trying to help in this experiment. Even though the drug is not ready quite yet, hopefully it will help Zeke, and more importantly even future families. These are a very motivated group of children and they accomplish a lot in spite of their muscle weakness," Garrett Lerner says.
Clincial research hopes to make a difference for children with SMA.
One in forty people are carriers of the disease. It's a recessive disorder, which means both parents would have to carry the gene in order for a child to be affected. Overall, one in six-thousand babies are born with SMA.