Duke discovers, treats rare childhood disease
Posted March 8, 2013
Durham, N.C. — Duke Children's Hospital has a new clinic specializing in treating just one rare disease.
Alternating Hemiplegia of Childhood, or AHC, can cause weakness and even paralysis, and has impact on the heart, cognitive and motor skills.
Duke pediatric neurologist Dr. Mohammad Mikati and genetic researcher Dr. David Goldstein discovered the gene mutation that causes AHC, and a local child is among the first to get treatment.
Jeff and Renee Wuchich took their son Matthew to see many doctors since started to show signs of occasional weakness and paralysis at three months of age.
Now, Matthew has a whole host of Duke specialists to address the many aspects of his AHC.
The right diagnosis and Duke's one-of-a-kind clinic is a big step forward for families like the Wuchiches.
"This will be a customized comprehensive care plan for the AHC sufferer and their family and the caregivers," said Jeff Wuchich.
Mikati said the team approach replaces the spotty care patients may have gotten before, and serves as a learning laboratory for research into the disorder.
"We're trying, hopefully, after we understand the exact physiology, to look for cures and more effective therapies," he said.
The Wuchich family also started a fund-raising foundation called "CURE AHC" so they can pass along what they learn to other AHC families.