The Saline Reporter
A Heritage Newspaper
Weekly Publication
Angelman syndrome is rare
By Brian Cox, Staff Writer
PUBLISHED: April 26, 2007
When 11-year-old Jake Blovits returns home from school, he slips his backpack off and declares he wants Funyuns.
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He is a big fan of the treat.
His father and mother, Jack and Terri, tell him the Funyuns are gone.
"You finished them last night, remember?" says his mother.
It's then that an undeterred Jake takes out his Dynamo, a small portable computer designed to give people with significant speech, language and learning disabilities a quick and easy way to communicate.
Jake's finger pokes at icons on the monitor and a computerized voice named "Paul" says, "I want to go to the store."
That is, after all, where the Funyuns are to be found.
Four years ago, Jake was diagnosed with Angelman syndrome, a rare genetic disorder characterized by, among others, developmental delay, speech impediment, flapping hands, and an unsteady gait. Jake is mostly non-verbal. He understands most of what is said to him if he is paying attention, but has limited ability to communicate verbally.
That's where the Dynamo comes in. It empowers Jake, allowing him to talk and be understood.
Terri and Jack will never forget the first time Jake ordered for himself at a restaurant. They were at Bob Evans.
"I want grilled cheese, please," Jake said through his Dynamo. "And water."
The waitress didn't miss a beat.
Jack and Terri laugh recalling that moment, which had been a long time in coming, a long time of not knowing and worry.
Jake was born in Massachusetts and from the outset never hit developmental milestones. And then, when he was 2 years old, he had a seizure while at a mall with his mother.
"I thought he died in my arms," recalled Terri. "He just went limp."
Years of consulting doctors, neurologists, and other specialists followed, but no one could diagnose what was causing Jake's seizures and developmental problems. The young boy underwent spinal taps, and blood work, and MRIs and countless other tests as the doctors worked - and failed — to uncover a diagnosis.
And then Jake's father read about Angelman Syndrome on the Internet and a bell went off.
"It was like I was reading about Jake on the Web site," said Jack. "The kid I was reading about was in my house."
"We just sat there and sobbed," said Terri. "It was a long ride. It feels like it was a hundred years ago now."
The Blovits moved to Saline in July 2005, and Jake began attending Burns Park Elementary School in Ann Arbor. His progress has been heartening.
"They do wonderful things for Jake," said Terri. "They really push him."
Last year, the Blovits heard of a walk-a-thon sponsored by the Angelman Syndrome Foundation to raise money for research into AS. They were thrilled to learn it was being held in Grand Rapids.
The Blovits borrowed a special-needs tricycle for Jake and went to the fund-raiser. It was eye-opening for the family, who for so long had been alone in dealing with AS.
"It was so emotional," said Terri, "to see other Angelman kids. We had never seen another one before."
Jake felt right at home.
"For once it was about him," said Terri. "We drag him into our life. This was his life. For once he felt like he was in his own element."
The Blovits found the event uplifting and plan to return again this year May 19. Their aim is to raise $1,500 for ASF research and programs and they have started a Web page at www.firstgiving.com/angelhope07 with more information on Jake and Angelman Syndrome and for donations.
Jake's mother's greatest wish is for one day Jake to have a voice. She would love to hear him say, "Mom, I love you" or "Mom, you hurt my feelings."
"I would love to see Jake communicate his life through the computer," Terri said.
He does that now to a certain, remarkable extent with his Dynamo.
And right now Jake wants Funyuns.
Staff Writer Brian Cox can be reached at 429-7380 or bcox@heritage.com.
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