NATIONAL (NBC/KAIT) -Doctors in Texas looked at genetic testing to find the key to treating children with epilepsy.
16-year-old Ryan Olin suffers from a epileptic disorder that causes tremors and an unbalanced gait.
Genetic testing to determine the exact cause of his disease provided no answers. However, researchers at UT Southwestern just wrapped up a new trial that would change that.
“Our research question was, if the patient had a previous genetic test result - if we used the latest information would that change the interpretation that was originally given several years ago,” Associate Professor Dr. Jason Park said.
Dr. Park and his team re-evaluated the genetic testing of more than 300 children with epilepsy. Using the latest in genetic advancements, they were able pinpoint the exact cause of epilepsy in almost 1/3 of those children.
They also discovered that some children didn’t have the kind of epilepsy doctors originally thought.
“It can explain why current therapies aren’t effective," Dr. Park said. "It can also mean that more testing and investigation needs to be done.”
When the Olin family heard about the trial results, they had Ryan’s original genetic testing re-evaluated. They then discovered he has what’s called a glut1 deficiency, a rare disease that blocks glucose from getting to the brain.
“Now we can figure out how to make his life better,” Ryan’s father Tim Olin said.
Researchers suggest parents review gene tests done in children with epilepsy at least every two years.
This will ensure their diagnoses and treatments are based on the latest discoveries.