Visalia boy seizure-free after being diagnosed with rare epilepsy condition

VISALIA, Calif. (KFSN) -- Sammy Castillo is a sweet four-year-old boy from Visalia who loves to shoot hoops and watch Disney movies with his family.

"He's kind," said Lorena Castillo, Sammy's mom. "He has so much personality and when people meet him, they just love him because there's something that he brings out in people."

He also shares a special bond with his sister, Kaliana. After nearly one year, Sammy is living a seizure free life.

"In the last year, he's had only one small seizure," said Lorena. "But he's living his normal life. He gets to enjoy things that he didn't before."

On February 20, 2022, at just 20 months old, Sammy suffered his first set of seizures.

"It was just one morning out of nowhere and I thought the worst," said Lorena. "I thought my baby's not breathing, I need to do CPR. I had never seen a seizure before, so I was scared."

Sammy was rushed to the hospital, where he was diagnosed with epilepsy.

"It was scary," said Kaliana. "I thought we weren't going to see him the next day."

Sammy went through different kinds of medications to get his epilepsy under control. His father, Chris, counted at least 20 seizures in just one day.

"We were trying to find out if it was a food he was eating," said Chris. "We were tracking his diet. We tracked his medication."

Lorena and Chris searched for answers. Eventually, they met with Doctor Emily Spelbrink, a pediatric epileptologist at Stanford Children's Health.

"He has Nicolaides Baraitser Syndrome," said Dr. Spelbrink. "In Sammy's case, it's one that affects his brain and his spine. Also to some extent, much lesser extent, some other systems."

Dr. Spelbrink says that Nicolaides Baraitser Syndrome is a very rare condition caused by a change in the genetic material.

To help Sammy, Dr. Spelbrink says she learned of a drug that was FDA approved for adults but used as an off label treatment for kids.

"The medication itself is promising in the sense that it has two new mechanisms of action compared to other current seizure medications that we have," said Dr. Spelbrink.

Since then, Sammy and the Castillo's have been living their lives happily. The Castillo's say they finally feel that sense of normalcy coming back and can't wait to do more together, like go to the movies.

But on this Thanksgiving, they're grateful to be spending this holiday together.

For news updates, follow Ana Torrea on Facebook, Twitter and Instagram.