The parents of an Edmonton toddler with Angelman Syndrome (AS) are hoping to raise awareness about the rare neurogenetic disorder.
Two-year-old Isabelle has the disorder but her fraternal twin Olivia does not.
“It’s a rare genetic disorder that affects about one in 15,000 people,” said Bridey Roberts, Isabelle’s mother.
According to the Foundation for Angelman Syndrome Therapeutics (FAST), people with AS often have feeding difficulties as infants, then show noticeable delayed development with things like crawling and babbling around six to 12 months of age. They can also experience poor sleeping habits, seizures and have a very happy demeanor.
“I’d say almost 24/7. She still has her two-year-old moments. But yeah, typically very happy, does not sleep very much, but she definitely loves eye-to-eye contact, she loves it. She doesn’t play shy like her little sister does I think that’s one of the main differences,” Phil said.
“Quite often they are misdiagnosed actually as cerebral palsy or autism and it’s often times after they’re two years old until they have a correct diagnosis,” said Bridey.
“It’s definitely best to have early intervention right, we were really lucky Isabelle was diagnosed at nine and a half months so we already had therapies in place, we already knew there was issues,” she added.
There is a normal life expectancy for people with AS, however some may never walk and most will not speak.
“She’s not going to be able to do things that Olivia can do just because of this disorder. She doesn’t have the coordination with her muscles and that,” said Phil.
“There has been a lot of specialists that have come by and helped us out with early diagnosis so that’s really helped her progress and we’re seeing the dividends of some of that right now,” Phil said.
The family hopes the organization FAST is able to find a cure.
“They’re working hard at developing a cure and they’ve actually cured it several times in mice and so it’s just working towards clinical trials for humans which is so exciting so it’ll be in the next, you know in Isabella’s lifetime we’ll be able to see some effects of that,” said Bridey.
The High Level Bridge will be lit blue for Isabelle and all those who have AS. Feb. 15 is International Angelman Syndrome Awareness Day.
