Kids Health Matters: Genetic studies for epilepsy

PHILADELPHIA (WPVI) -- Genetics play a bigger role in many diseases than we ever thought. And it's not always a matter of inherited genetics, but ones damaged at some point in our lives.

Now, doctors are studying them to better understand and treat an age-old disorder.

Benjamin Moyer is a little guy facing a bigger challenge - epilepsy.

It started suddenly when he was about 4 months old.

"He had an episode of his eyes rolling back into his head," said Benjamin's mother, Erin Moyer.

Erin and her husband, Chris, weren't too worried, but when other episodes happened in the days that, they headed for the ER.

"He ended up having a seizure as we were walking into the emergency room," she recalled.

"His whole body would clench and tighten up," said Chris.

Tests at Children's Hospital showed Benjamin had "infantile spasms," one of many types of epilepsy.

After several weeks - and medications - the seizures stopped.

During that time, the Moyers joined a national study looking at the genetic roots of epilepsy.

"Up to 30% of epilepsies seem to have a genetic cause," said Dr. Ingo Helbig from CHOP.

Children's Hospital is one of 8 sites in the Epilepsy Genetics Initiative, launched by CURE Epilepsy.

Dr. Helbig says thousands and thousands of genetic profiles will be analyzed continuously.

"A genetic variant we don't understand today may become very important a year from now," he said.

These days, Benjamin is making big progress at regaining skills lost due to the seizures.

And while he's exploring his world, his parents are happy to be involved in the study.

"It's good to be part of something that's going to help so many," said Erin.

That help could come sooner than later.

Any findings from the study will be reported back to a patient's doctor, to guide them on the best drugs or treatment.