Family copes with rare disorder

Kate O'Brien's first seizure came some eight years ago when she was almost 4.

It was, needless to say, a frightful time for her parents who didn't know what was happening.

And so began a year of scrambling for the right medical help and trying to diagnose her problem.

"The first year is the most unbelievable of your life," said her father, Jim O'Brien.

Lennox-Gastaut Syndrome (LGS) is a rare form of epilepsy resistant to many types of medication.

It also is a regressive disease that can impair its victims both physically and mentally.

"She was perfectly normal as a child," Jim said. "She now has slight mental retardation. She walks with a limp."

Vagus nerve stimulation therapy is a form of treatment that may be tried when medications fail to stop seizures, according to information from the Epilepsy Foundation. The therapy is designed to prevent seizures by sending regular small pulses of electrical energy to the brain via the vagus nerve in the neck.

The surgery amounts to placing a pacemaker under the skin on the chest wall with a wire running to the vagus nerve.

The vagus nerve is part of the nervous system, controlling functions of the body not under voluntary control, such as the heart rate.

Since undergoing such surgery several years ago, Kate can go weeks without many seizures at all.

"But the next week she'll have multiple seizures throughout the day," her father said. "Yesterday, she missed school because of seizures."

Unfortunately, there is no known cure for LGS.

Because LGS is often resistant to medications, it can take a long time for parents of a LGS child to know where to turn.

"The toughest part is not knowing what tomorrow will bring." Jim said.

Often, Kate's seizures are exacerbated if she becomes ill with a cold or the flu.

He noted she's experienced all types of seizures, including grand mal seizures.

And her seizures can be violent.

"Right now she is going through puberty, so her seizures are changing," Jim said.

The O'Briens, who live in Plunketts Creek Township along Loyalsock Creek, have a sign in front of their home that reads: "Watch for Kate."

It's a warning to motorists entering the property to be prepared for a 12-year-old girl having a seizure.

Her mother, Cathy, said it's tough just to realize all the medications her daughter has to take.

"Just watching her deteriorate, that's pretty hard," she said.

The couple noted they can look back on videos of their daughter when she was just 3 and already talking.

"It's sad to watch that," Jim said. "She was a perfectly normal child, now it just goes backward."

Many kids with LGS, he said, end up in wheelchairs

Beside him on the couch, his daughter and wife are playing Uno, a card game Kate loves to play.

She also likes to bowl.

Cathy noted that among her other problems, their daughter has a compulsive-obsessive disorder and will watch her favorite videos repeatedly.

Jim said for all her problems, Kate remains a resilient and tough kid.

Accompanied by a full-time nurse, she attends a Life Skills class each day at Shick Elementary School.

He realizes that her problems could become worse, but remains hopeful that medical science will find more answers.

In some 30 to 35 percent of cases, there is no known cause for LGS, according to information from the LGS Foundation. Some of the known causes include brain injury associated with pregnancy or birth, brain infections such as encephalitis or meningitis, developmental malformations and a history of infantile spasms.

Kate was adopted by the couple shortly after her birth, so it has been hard for them to pinpoint the cause of her LGS.

Because Kate has seizures that apparently originate from different parts of the brain, it is not believed surgery can help their daughter.

In March, the couple participated in the Walk for Epilepsy in Washington, D.C. The fund-raising event gave the two a chance to meet others with loved ones with Lennox-Gastaut.

Jim said his hope is to become more involved with the Lennox-Gastaut Foundation and reach out to more people.

"Maybe someone will read this story and realize their son or daughter has this," he said. "My goal is to get the word out."

More information about LGS is at www.lgsfoundation.org.