Family raising awareness for rare disorder

By Dale Woodard on February 13, 2021.

Lethbridge Herald
A family dealing with a rare disorder is doing their part to raise awareness for the condition.
Monday is Angelman Syndrome Awareness Day, a rare disorder that statistically occurs in one of every 20,000 births worldwide.
For Bella Duce and her husband, Ben, the day takes on a personal importance. Their son Rhett, who will turn three in May, was diagnosed with Angelman Syndrome shortly after his first birthday.
“The focus is giving us much information as we can about our kids and about the syndrome to raise awareness, whether it’s for other families to help them through trying times or trying to find a diagnosis or recognizing the simliars symptoms in their kids,” said Duce. “Most have never even heard of Angelman Syndrome and those that have don’t know a ton about it.”
Angelman Syndrome is a neuro-genetic disorder, said Duce.
Children and adults with the disease have balance issues, motor impairment, debilitating seizures, epilepsy and severly disrupted sleep cycles.
“The things we noticed when he was little were a lot of jolty movements,” said Duce.
“He never stopped moving and they were very spastic movements. The sounds he made were really off because his oral motor skills were not what your typical kids would have. So the way he moved his tougue and the way he moved his mouth around wasn’t typical.
“But as they grow up a lot of the signs are non-verbal. Some don’t walk. Most typically do, but it can be anywhere from age one to 14, there’s no real time limit on it. You never really know when it’s going to happen.
“But it’s poor balance, lots have feeding issues and things like that. His hands and his motor skills, like picking something up or using one finger to point at something, that doesn’t go from his brain to his nerves that well.”
It was through a family member that the Duce’s started exploring to possiblity of Angelman’s Syndrome in Rhett.
“My sister came home the Christmas before we had the diagnosis and she mentioned that someone she knew had Angelman Syndrome,” said Duce.
“Some of the symptoms matched and a lot didn’t, so we kind of pushed that to the back of our heads and didn’t really look much further into that. But once we started talking to a doctor, he was thinking it was possibly cerebral palsy before we got all of our testing done.”
But other symptoms were coming up.
“He was smiling and had an overly happy personality, which is cute in a baby, but it became one of those indicators, he was getting hurt and he was still smiling,” said Duce.
“He was exhausted and still smiling. He was constantly happy and smiling, so that pointed us more in the direction of Angelman Syndrome.”
Duce went onto Instagram and searched the hashtag Angelman Syndrome, locating videos partents would post of their children affected by the disorder.
“Once I started watching those and reading their stories it was ‘This is what Rhett has. Rhett moves likes these kids and the sounds he makes are just like this and his sleep patterns are the same,'” she said. “So it clicked as soon as we started reaching out further on social media. That’s when we realized Angleman Syndrome is probably what it was and got the diagnosis soon after that.”
The condition gives Rhett a sleep disorder, said Duce.
“He doesn’t require the same amount of sleep that your typical child would need. He sleeps anywhere from two hours a night to six hours. He usually gets up for the day at around 3 a.m., which is pretty typical in our house.”
As of now, there is now cure or medication for Angelman Syndrome, said Duce.
“But there are clinical trials going on and testing being done that actually cured it in mice with different testing. We’re really hopeful that in Rhett’s lifetime we can see a cure happen. But as of right now there is nothing to treat it.”
Starting Friday and running until Monday, Bo Smith & Co., a non-profit organization in southern Alberta, will be selling shirts as part of a fundraiser.
“They buy and sell T-shirts with little embroidered symbols and all of their proceeds go to kids with cancer. They did one for Mo-November,” said Duce.
“I reached out to them and (asked) about doing wings on shirts that can be for Angelman Syndrome and they hopped on board immediately. They were thrilled to help out however they could.
“One hundred per cent of the proceeds are going to go to Rhett. So we’re going to put that into special needs eqiupment or what he needs.”
Also debuting on Monday is a 24-minute video #RootingforRhett — the Story of an Angel. Which will be available on YouTube.
“I wanted to put something on the Internet that parents could find or anyone looking into Angelman Syndrome could search.
“It goes over our journey we’ve had leading up to a diagnosis and post diagnosis and where we’re at now,” said Duce, adding she saw a similar video that inspired her.
“There are people who are going to help you and there are resources you can use. It was really comforting to find a video like that for me. I just wanted to be able to hopefully do the same for someone else.”
For a two-minute preview, visit https://youtu.be/PpNjujv_lQo.
For a link ot Bo Smith and Co. visit http://www.bosmithandco.ca

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