Discovering YOU Magazine August 2018 Issue | Page 14

HEALTH AND WELLNESS

treatment, it helped tremendously.

While there is currently no cure for Angelman syndrome, researchers are working on medicines to target specific aspects of the disorder. For example, therapies that could help with balance and coordination could help someone walk further on his or her own. For the Cecere family, a therapy that helps Weston achieve even more small victories - like taking an extra few steps or being able to point - could have a major impact on how he interacts with his world. It's these small changes that can have a big impact and open doors for children like Weston to do the things many thought they would never do.

What is Angelman syndrome?

A genetic disorder affecting the 15th chromosome, Angelman syndrome requires lifelong care for those who are diagnosed, beginning when very young. In most cases, the first signs of Angelman syndrome that parents notice are significant developmental delays such as a lack of crawling, lack of speech or - in some cases - seizures. Because these symptoms can be easily mistaken for other conditions such as autism, cerebral palsy and Prader-Willi syndrome, Angelman syndrome is frequently misdiagnosed.

Those with Angelman syndrome are easily excitable, have short attention spans and exhibit a generally happy personality. They also don't sleep as long as people without the syndrome, rarely more than five hours at a time, which means family and caregivers struggle with sleep deprivation on a regular basis. One of the biggest challenges families face is in trying to control seizures. It's hard to know just what will trigger a seizure, which can become a source of constant anxiety.

What treatments are available?

One of the first geneticists the Cecere family saw said that the best thing for Weston to do would be to play with other kids. With a neighborhood full of friends, that's just what they did. It was not a cure, but combined with love and expert

"While there is currently no cure for Angelman syndrome, researchers are working on medicines to

target specific aspects

of the disorder."