Families find hope for rare genetic brain disorder

For most parents, their child’s first steps or first words are incredible moments in their lives and a reason to celebrate. Well before their child is born they look forward to these milestones.

Parents Mike and Lori Cecere looked forward to watching their son Weston crawl. Most babies learn between 6 and 10 months old; however, as the weeks passed and Weston still had not hit this milestone, the Ceceres grew increasingly worried. Eventually, they went to a specialist.

Weston was diagnosed with Angelman syndrome when he was 15 months old.

A rare genetic brain disorder, Angelman syndrome affects between 1 in 12,000 to 20,000 people, and is characterized by delayed development, cognitive disability, severe speech and sleep impairments, and problems with movement and balance.

At the time of Weston’s diagnosis, those common milestones seemed distant, maybe even impossible. His parents were told he would never be able to walk, and things that may seem insignificant to most – something as simple as using a straw – might be impossible for him.

Yet despite the odds and the diagnosis, Weston learned how to walk. And though it took his siblings just nine months to learn how to use a straw, after five and a half years, Weston, too, was able to accomplish this task. For families impacted by Angelman syndrome, these are more than milestones; they are victories amidst lifelong challenges and emotional struggles.

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 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.