Speaking up for Angelman Syndrome

May 16, 2008 6:13:54 PM PDT
Angelman Syndrome is a rare genetic disease that experts say often gets mis-diagnosed. But local efforts are hoping to change that by raising awareness, and money for research to help Angelman kids live to their fullest potential.

Jackson Waicus, 7, of Voorhees, N.J. likes spending time with his grandparents, looking at books and swimming. He's also a 'people person.' "Anybody new, he's interested," said his mom, Julie Waicus.

In fact, as we pulled up to their house, Jackson and his sister Darcie greeted us with big smiles, but the friendly personality isn't just the sign of a happy kid it's also a sign of Angelman Syndrome, or AS, a rare genetic disorder.

Julie said, "By the time he reached a year, when he wasn't crawling, he was barely sitting up and there was no babble," they knew something was wrong. But it took two years to diagnose Jackson with AS.

At that time, Julie was pregnant with Darcie and because Julie is a rare carrier of the disorder, Darcie had a 50-percent chance of also having Angelman Syndrome. Through a genetic test, Darcie was diagnosed with the disorder when she was two-months-old. "I just had to take it day by day and kind of slowly heal because if you think of the magnitude it's just devastating," Julie said.

Kids with AS can have seizures, they're developmentally delayed and they don't speak. The disorder is rare but genetic counselor Livija Medne of the Children's Hospital of Philadelphia said there may be more kids with AS who are mis-diagnosed with other disorders such as autism or cerebral palsy. "It is not completely unheard of that we diagnose between the ages of seven to 10 where they should be diagnosed before," she said, adding the earlier the diagnosis, the better the outcome.

Julie said aggressive therapy and the Larc School have helped the kids in their motor skills and they're ability to communicate. They use a special 'talker' to say what they want or need.

Experts say research is paving the way not for a cure but to help Angelman kids live to their fullest potential, something every mother wants especially when despite their special needs, they bring so much joy. "They treat every day like it's Christmas Day and I hope others can learn from their example," Julie said.

Research helps Angelman kids get the proper diagnosis and the best therapies. If you'd like to help this cause, the National Angelman Syndrome Foundation is having a walk-a-thon Saturday, May 17th at the Cooper River Park.

Registration starts at 8:00 am, the 5-K walk kicks off at 9:00 am at the Lobster Trap. For more information on the walk or Angelman Syndrome, visit: www.angelman.org For more on the Waicus' story, visit: www.voicesforangels.org