Walk to help fight disease
By Tina Akouris email@example.com May 16, 2013 9:42PM
Cole Zuponek at the Angelman Syndrome Walk 2011. | Supplied photo
For more information on the walk, visit www.angelman.org or call 1-800-432-6435.
Updated: June 18, 2013 6:52AM
When Cole Zuponeck was 9 months old and not yet crawling, his parents, Kristin and George of Plainfield, took him to their pediatrician.
The pediatrician said not to worry — the boy had low muscle tone. Check back in a year. So the Zuponecks figured their only child simply was a late bloomer.
But Cole still wouldn’t crawl and instead was doing an “army crawl” where he’d lie on his belly and use his arms to push himself across the floor. Or, he’d roll around to get to where he wanted to go.
Feeling somewhat alarmed once Cole turned 22 months old, the Zuponecks contacted Early Intervention where he was evaluated. Cole was seen by a neurologist, geneticist and therapists.
Cole’s diagnosis was Angelman’s syndrome, a rare genetic disease that afflicts one in 15,000 children.
Now Cole is 12 years old and thriving — despite the diagnosis.
Saturday is the annual Angelman Syndrome Foundation National Walk-a-Thon designed to raise funds and awareness to support the foundation. There are 29 walks across the country including one in Naperville at 10 a.m. at the World of Life Lutheran Church (879 Turdor Drive). Check-in begins at 8:30.
Eileen Braun, executive director of the Angelman Syndrome Foundation based in Aurora, said there are about 700 people registered for the walk, but that number may go up before Saturday.
Braun said the syndrome is named after the British pediatrician Dr. Harry Angelman, who treated three patients with the disease.
Before the early 1980s, the syndrome was known as “happy puppet syndrome” because the afflicted children would walk stiff-armed or legged.
“Even now it is misdiagnosed as cerebral palsy or autism,” Braun said. “But the children tend to be very happy and excitable and engaging individuals.”
The age range for diagnosis is between 2 and 8 years, Braun said, but early diagnosis is key in receiving proper treatment like physical and occupational therapy and medication to control seizures. Most children learn to walk between the ages of 3 and 8.
The long-term outlook for Angelman patients is that 90 percent will have seizures through most of their lives, Braun said. Many need long-term care and can’t live independently.
“It is a huge commitment for these families,” Braun said. “Most of these individuals will outlive their parents.”
What he can do
Kristin Zuponeck said Cole cannot speak. He has seizures and has delays in his cognitive and growth motor skills. But even with those problems, Cole can fully understand everything around him.
Despite having Angelman’s Syndrome, Cole’s still able to do some of the things kids his age like to do.
He was in Cub Scouts for five years and has played baseball for the past six in the Miracle League of Joliet, a league for children with special needs. Recently, Cole participated in the Special Olympics for the first time and placed third in bocce ball.
Cole has an adaptive bike that he rides around his neighborhood.
“He is fully mobile and he can do a fast jog, just not a full-out run,” Zuponeck said. “He does have balance issues with stairs and stepping on and off curbs. It’s hard for him to stand upright. He needs special shoes and braces.
“And he does communicate with sign language.”
Cole attends Trinity Services School in New Lenox, a small school for kids with special needs. He started going there in October 2012. He’s able to use an iPad with a Talk Tablet app that allows him to speak with words and phrases.
Zuponeck hopes Saturday’s walk raises awareness and funds for the foundation. It’s also a chance for him to be social and interact.
“Cole is overall a happy kid,” Zuponeck said. “He’s always smiling.”