The doctor said, You’ve got an angel
Published: May 14, 2008
Spend an hour or so with R. J. Gawel and the following might happen:
• He’ll embrace you in a bear hug, or a kiss, if he feels so inclined.
• On his Dynavox, an electronic communication device, he’ll ask, over and over: “Do you want to dance?”
• Look away for a moment and he’ll snitch your cell phone.
That’s the mischievous nature of the 13-year-old, who spends much of his day smiling and laughing and doing his darnedest to get others to do the same.
“R. J. is always the most popular kid in school,” said his father, Bob.
With his happy demeanor, though, come other traits.
His parents noticed the differences when he was an infant and failed to crawl or sit as expected. “He just wasn’t hitting the typical milestones,” said Gawel. “At first, doctors said that he was developmentally delayed, that potentially by the time he was in kindergarten all of this would be behind us.”
Instead, R. J. got further behind, and they still didn’t know why.
Finally, they met Dr. Luther Robinson at Women and Children’s Hospital, who had been doing some fortuitous research. He took one look at 3-year-old R. J. and said: “You’ve got an angel.”
Robinson wasn’t describing the boy’s behavior. He was telling his parents, Bob and his former wife, Mary, that the boy has the very rare Angelman Syndrome. That diagnosis placed R. J. in the company of fewer than 2,000 in the United States, with only six families within driving distance of his Hamburg home.
Robinson recognized R. J.’s characteristic behaviors, just as English physician Harry Angelman had done in 1965 when he observed three of his young patients. Until then, the ataxic gait, unsteady balance, outstretched hands, had earned the name the “Puppet Children” disease, but it was renamed Angelman Syndrome.
It is caused by a deleted region on Chromosome 15, according to information on the Web site of the Angelman Syndrome Foundation.
Getting that diagnosis brought a degree of relief to the family, which also includes, Shannon, 18, R. J.’s sister.
It explained why the boy flaps his arms when he’s excited, walks with a lurching gait, is unable to speak and appears to be in a happy state much of the time.
Before the diagnosis, the Gawels weren’t sure how to proceed because they weren’t sure what they were dealing with, they said.
Finally, they could put a name to the rare condition and begin to come to terms with the care that R. J. will need for the rest of his life.
“We know he’ll never speak,” said Gawel. “He doesn’t have any words. To this day he can only say ‘mama,’ which he says for just about everything. And because of his fine motor skills, he can’t sign.
“His functioning level is about [age] 2 1/2 and he can understand about as well as a 5- year-old, but he really doesn’t understand the concepts of danger and strangers.”
R. J. attends a BOCES class at Holland Middle School, where he works on communication skills and learns various tasks. Each week, he spends a few hours with Joe Miner, a life skills trainer for Heritage Centers, who sometimes runs around the neighborhood behind R. J. on his specially designed bike.
Because Angelmans is not well known, the Gawels want to raise money for research as well as raising awareness about the condition. Gawel understands why people may not know how to react. “You see this big kid rushing up to you,” he said. “You don’t know it, but all he wants is a high five.”
And they want doctors to be clued in, too, because it’s been undiagnosed or misdiagnosed as cerebral palsy or autism.
“It’s a pretty complex syndrome,” said Mary Gawel, a former surgical nurse who now works for People, Inc.
For the first time, there will be a local walk-a-thon to benefit the Angelman Syndrome Foundation. It begins with 8 a. m. registration (walk at 9 a. m.) Sat urday at the Casino in Chestnut Ridge Park. The two-mile walk is being held in conjunction with walks in 18 other cities.
“It’s the first year I’ve been brave enough to take on a walk here,” said Gawel, who is manager of Harlequin Sales Corp.
“Unfortunately, we don’t have the big draw of having a celebrity child, someone like Jim Kelly for Crabbe’s disease.” In fact, actor Colin Farrell disclosed last October that his 4- year-old son has Angelmans.
The Gawels say they want to get the word out about Angelmans, so they can both learn from and help other parents. Bob Gawel is particularly pleased that he helped a mother get a diagnosis for her daughter, who is 34.
Besides creating a bond with others, they can trade information on what is most effective for the various ailments that often accompany Angelmans.
R. J., for one, takes medication for migraine headaches, cyclic vomiting, reflux, constipation, sleep, all disorders that can be part of the Angelmans package, his mother said.
If there is a bright side to the angels — and it’s clear that R. J. is a bright spot to his family — it’s the characteristicly happy disposition.
“They will do anything to make themselves laugh,” said Gawel. “R. J. will pretend he’s going to kiss you, but instead will lick your face and think it’s the funniest thing he’s ever seen. He lives for getting reactions out of others.”
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