Deceptively Happy: Mysterious Syndrome Often Misunderstood

"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."

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