Williams Syndrome Awareness week runs from Aug. 1 to 7, but the Lac La Biche branch of Brokerlink will be running a fundraising campaign for a full month, from July 16 to Aug. 17, in the hopes of raising money for research into the rare genetic disorder.
The cause hits close to home for one of Brokerlink’s personal insurance brokers—Bailey Walsh and her husband Jamie only just found out this year that their one-year-old son Cole suffers from the unusual syndrome.
“I didn’t know anything about Williams Syndrome,” Walsh explained. “I’d never heard of it. Cole was six months old and he was very behind in development. In fact, he was regressing. He wasn’t eating, he wasn’t growing—he couldn’t even sit up anymore.”
The Walshes brought Cole to a local doctor before they were sent to a paediatrician in Edmonton. The problem was that Cole was in such bad shape doctors didn’t think he was up to the rigorous testing it would require to get to the bottom of his medical mystery.
Finally admitted to the University of Alberta Hospital in Edmonton, doctors performed a number of tests including a heart echo, which showed aortic narrowing, one of the telltale signs of the disorder. With this as their first clue, they tested Cole for high levels of calcium, another of the calling cards of Williams Syndrome, and indeed Cole had an extreme case of hypercalcemia. Too much calcium in the blood can cause many problems, including nausea, pain and poor appetite.
“The doctors said Cole had enough calcium in his blood to put an adult into seizures,” Walsh said.
With these red flags flying, doctors performed the genetic testing that confirmed Cole was missing the genes common to people suffering from WS. Once the doctors knew what they were dealing with, helping Cole became much easier, but the process is rigorous.
“It’s been busy,” Walsh said of the numerous doctors appointments, usually based in Edmonton, that they have had to attend in the past months—treatment for Cole’s hypercalcemia, visits to a kidney specialist for his enlarged kidneys, visits to a cardiologist for his heart problems, as well as physiotherapists, speech therapists and geneticists.
“But now he’s doing well. Now he’s really happy since they got his calcium levels down—he’s a different kid. He never used to smile. He didn’t smile until he was one.”
Williams Syndrome is a genetic disorder that affects about one in 20,000. Those affected have a certain facial similarity, with what are called “elfin” features—a wide mouth, flat nose with teeth widely spaced. WS causes physical and developmental problems, but the most interesting aspect of the syndrome is the extreme sociability of those affected by it.
“It’s almost like the opposite of autism,” Walsh said musingly. “They have no social inhibitions. They’re so friendly and so outgoing. They just can’t help it.”
Indeed, there are two well-documented hallmarks of Williams Syndrome. A person with WS is extremely outgoing and empathetic—they are irresistibly drawn to other human beings and don’t know the meaning of mistrust, a trait that can be both a blessing and a curse. People with WS also share a love and affinity for music. Most become accomplished musicians in some capacity, but all share a remarkable love for melody.
“We don’t know what he’s going to be like,” Walsh said of the trademark Williams Syndrome traits. “But we live in Plamondon, and I’m grateful for that because everyone will get to know him and look out for him. [People with WS] are very loving and sensitive. As long as he can cuddle you, he’s happy.”
As for Cole’s taste in music, Walsh says that he will sit and listen to classical music, enraptured, for hours.
Brokerlink and Double L Confectionary in Plamondon will be selling pink hearts for CAWS—the Canadian Association for Williams Syndrome. The hearts are $2 each and all proceeds will go to research into the educational, behavioural, social and medical aspects of WS, as well as to increasing awareness about the disorder.
“We invite everyone to come and participate,” Monear Abougouche, branch manager of Brokerlink said of the campaign. “That’s the whole idea.”
