Six-year-old Ryan Ravellette is a happy and sociable child; he has a smile that can light up a room.
But his beaming smile both belies and reveals a genetic condition that will affect him for the rest of his life -- and make normal communication all but impossible for the upbeat little boy.
Ryan is one of a few thousand children in the United States who has Angelman syndrome, a condition associated with severe cognitive and developmental disorders, as well as seizures.
What sets this condition apart from many others is the unusually cheerful, gregarious disposition of the children who have it. This characteristic, along with the syndrome's effects on coordination, has earned it the nickname "happy puppet syndrome."
Ryan's mother Susan says doctors diagnosed her son with the condition in 2003, when he was 19 months old. But even before a formal diagnosis, she says she and her husband knew something was wrong.
"We noticed that he was not progressing like other kids were; he did not sit up when other kids did," she says. "We took that as a pretty serious red flag."
And even since the diagnosis, Ravellette says the condition has presented her family with uncommon hurdles.
"It's a tremendous challenge raising a child with Angelman syndrome, because they will be non-verbal, and there are many cognitive disorders associated with it," she says. "It is a pretty severe syndrome."
Mysterious Condition Often Undiagnosed
In the realm of genetic conditions, Angelman syndrome is a relative newcomer. It was first described as a unique syndrome in 1965 by English physician Dr. Harry Angelman, who, in particular, noted the stiff, jerky gait and absence of speech associated with the condition, as well as the excessive laughter and seizures the children exhibited.
Angelman syndrome researcher Dr. Charles Williams, a professor with the University of Florida department of pediatrics in Gainesville, says the condition is often misdiagnosed.
"It is rarely diagnosed under 2 years of age by either pediatric neurologists or pediatricians unless that physician for one reason or another knows something about the syndrome," Williams says. He adds that many with the syndrome may not be properly diagnosed until their teen or early adult years, despite the availability of a DNA test that can pick out between 80 and 85 percent of cases.
"I would estimate that about one-half of all children with Angelman syndrome have not been diagnosed at this point."
Eileen Braun, executive director of the Angelman Syndrome Foundation, says that, while her organization's database contains perhaps 1,200 individuals in the U.S. who have the condition, she believes that many more cases are missed.
"Many physicians are not aware of Angelman syndrome, and as a result, are unable to correctly diagnose it," says Braun, whose 18-year-old daughter Kaitlin was diagnosed at 21 months with the condition.
But whether it's properly diagnosed has little effect on the often devastating impact the condition has on parents.
"Probably the first thing they have to face is the reality that this is a condition where communication is going to be difficult -- where it's very unusual for any spoken words to be used in a meaningful way," Williams says. "For the family to adjust to that reality is a tough thing."
Braun agrees. "These individuals do have some words and expressions, and some fairly high-functioning children may speak in short sentences. But they are not able to have conversations like you and I have conversations."
Fortunately, proper diagnosis of the condition can go a long way in helping parents of these children seek appropriate treatment. And while the syndrome has largely evaded many doctors' diagnostic radars, news of actor Colin Farrell's son being diagnosed with Angelman syndrome could go a long way in raising awareness.
"Of course, you never want to see anyone have their child diagnosed with this. It is not an easy syndrome to handle," Ravellette says. "But we saw the awareness being raised by the amount of people who went to our Web site later. It gets the story out there."
Uncommon Challenge for Parents
But even for parents who secure a proper diagnosis, dealing with the condition can be a lifelong challenge.
"The most important thing parents will face is that those with Angelman have a need to be cared for for the rest of their lives," Braun says. "And I think there are several other things that parents must come to terms with.
"You need to realize that you had dreams for your child before the diagnosis of Angelman syndrome, and you can still have dreams for your child -- it's just that these dreams will look a little bit different."
Support communities, such as the Angelman Syndrome Foundation, can go a long way in helping parents cope with the inevitable hurdles that the condition presents.
"When I became part of that, it felt like I had a family -- other people who knew what my life was like and who could say, 'It's going to be OK,'" Ravellette says.
And both Ravellette and Braun say the happy dispositions that their children possess are a welcome silver lining.
"That's a very important positive aspect of this syndrome," Williams notes. "Angelman individuals generally love to be around other people, like to interact socially, and very often have a happy disposition. In fact, the original description of this syndrome involved the phenomena of laughter and happiness."
Could a cure for the condition be down the road? Williams says that recent advances in diagnosis and treatment -- and even research toward ways to prevent the condition -- have been very positive. And he says that gene therapy -- specifically, a correction or replacement of the faulty gene that leads to the condition -- could be key.
"I think that 'cure' is no longer seen as a four-letter word," Williams says. "From my scientific experience, 10 or even five years ago, I would have been hesitant to use that term and skeptical of someone who did. Today, even though we have to recognize that we are still a long way from a cure, I think it is on the horizon.
"I don't see it happening in humans right now in the next five years or so," Williams adds, "but I think that it is conceivable that in 10 years we could have a cure for Angelman syndrome."
Meanwhile, Ravellette says that she and her husband continue to do everything they can to manage the syndrome, including physical therapy, occupational therapy and speech therapy for Ryan. He is also enrolled in a normal classroom, which allows him to interact with other children and develop friendships.
It is among these peers that Ryan's smile speaks volumes, even when he himself cannot.
"[Angelman syndrome] kids are just very engaging. They'll give you a smile that nobody else can give you," Ravellette says.
For more information, visit the website of the Angelman Syndrome Foundation.