This is a summary of a story that was originally on Duke University School of Medicine .
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that affects about one in a million children worldwide and requires lifelong care.
AHC often appears before a child's first birthday. Its symptoms include recurring episodes of paralysis on one side of the body or the other or both, seizures, abnormal movements, cognitive impairment, and development delays. The disorder is most damaging during the first five years of childhood and becomes less severe later on.
For decades, doctors could diagnose AHC only by its symptoms, but a School of Medicine study reinforces the importance of early intervention as well as careful monitoring.
"This is the kind of information families have been asking about for decades," said senior study author Dr. Mohamad Mikati, professor of pediatrics and neurobiology.
Parents searching for answers on behalf of their children are at the heart of the study. Matthew Wuchich was 18 months old when he was diagnosed with AHC in 2008. His parents, Jeff and Renee Wuchich of Rolesville, N.C., had spent more than a year being told Matthew's symptoms didn't make sense. Doctors suggested epilepsy. Todd's paralysis. AHC was not mentioned.
Matthew's neurologist referred the family to UNC Hospitals for further evaluation. A paralysis episode occurred during an appointment, and Matthew was admitted for a series of tests and blood work. There, Matthew was diagnosed with AHC. At the time, there were only 200 known cases in the world.
In 2011, after Mikati arrived at Duke, Matthew's parents helped organize a gathering in Raleigh that was pivotal.
"We helped recruit families to submit genetic samples to Duke," said Jeff Wuchich, a therapist and pastoral counselor. "That effort led directly to the discovery that mutations in the ATP1A3 gene causes most cases of AHC." This gene mutation is usually spontaneous, meaning it rarely runs in families.
Soon after, the Duke AHC clinic and the study was launched.
