Nick's Story: "Suddenly Everything Changed"
Nick Skluzacek was about a year old when he had his first seizure.
"It was very scary," recalled his mother Joan.
By age two, Nick was a cheerful, talkative toddler, a daredevil in the pool who always seemed to be smiling and loved to play with bubbles.
But the seizures became more frequent and more severe and Nick began to regress cognitively, socially and physically.
"He went from talking to us, expressing his needs," said his father Paul, "to not saying hardly a word."
"He hasn't spoken a word since he was six years old," said his mother. "That's the last time we heard him speak."
That was seven years ago. When Nick's problems first began, his doctors were at a loss to diagnose the cause.
"As a matter of fact," said his father, "one of our neurologists literally threw his hands up and said, I don't know."
The anti-seizure medicines doctors prescribed actually increased the frequency of Nick's seizures.
Finally, at Gillette Specialty Healthcare in St. Paul, Dr. Beverly Wical, a Pediatric Neurologist, properly diagnosed Nick's condition: Dravet's Syndrome.
"Dravet's syndrome is named after Dr. Charlotte Dravet," explained Dr. Wical. "She's a French neurologist who first described the syndrome in 1978."
Dr. Wical describes Dravet's syndrome as a "heart-breaking" form of epilepsy.
"As the child progresses over early childhood," said Wical, "the family is engaged in an intense war with the epilepsy and other symptoms. Part of the heartbreak is that their perfectly normal infant is now a child that they can see has significant developmental impairment emerging."
On a recent walk near their home in Afton, the Skluzacek family is escorted by Ruby, a three-legged Hungarian Pointed who has brought joy to the family.
"I think it's very poetic," said Paul, "that a handicapped child has a handicapped dog that takes care of him."
Repeatedly, Ruby has alerted the Skluzaceks when Nick begins to have a seizure, allowing his parents to spare Nick from dangerous falls.
"Ruby has awakened us in the night when Nick has nighttime seizures," said Joan.
Constantly seeking to improve Nick's quality of life anyway she can, last year Joan founded the "IDEA League" -- a non-profit organization intent on finding a cure for Dravet's Syndrome.
Earlier this summer, at the Minnesota History Center, Joan also organized the first-ever international conference on Dravet's Syndrome. The conference allowed experts and families from around the world to meet face-to-face.
Among those who attended the conference was Vicky McNabb, who brought here daughter, Lucy, with her all the way from Leicester, England.
"Every stage of Lucy's life has been awful," said McNabb. "Until recently, she had hundreds of seizures everyday.
Dravet's Syndrome is a relatively rare condition. Vicky and her husband, Colum, brought Lucy to the conference, in part, because they felt so alone.
"It's incredible, actually," said Vicky, looking around a large room filled with children who've been diagnosed with Dravet's. "There are so few of us internationally and yet look at how many are here in this building."
A lucky few of the conference participants got a consultation with Dr. Charlotte Dravet herself.
In an interview, Dr. Dravet said the key to successful treatment of the syndrome is early detection.
"Children have to be tested by psychologists and neurophysiologists from the beginning," Dravet said. "That can help the families and help the children have better development."
As for a cure, Dr. Dravet said that's a long way off.
"At this time, we are not very optimistic," she said. "That's a problem."
The Skluzaceks, however, remain undeterred.
Nick’s younger brother Blake said, if nothing else, he hopes Nick understands this: "That I'm his brother, I love him, and I feel bad for him having to be like this."
The entire Skluzacek family vows not to give up seeking a cure because they know others are counting on them.
"We're trying to help Nick become the best Nick he can be," said his mother, Joan. "I would like to see that happen for all the children with Dravet's Syndrome."
"His family has taken his set of problems and challenges," said Dr. Wical, "and found a way to turn that into a great blessing for other people."
By Mark Daly KARE 11 News
