Finding out your child has a rare and life-changing condition is shocking news – but a Botanic Ridge family is channelling their experience to create awareness for other families.
The Thomas family was floored when son Hugh was diagnosed at birth with Williams Syndrome, which is caused by a small deletion on chromosome seven.
It can cause a variety of symptoms, including growth delays, sensitivity to sounds and heart problems.
The condition is so rare that normal testing during pregnancy doesn’t pick it up.
Hugh’s mother Tess said she and her husband Shaun had never heard of the condition before Hugh was born.
“It was a shock for us, we didn’t expect or prepare for it,” she said.
“My pregnancy was really good, and then he wasn’t diagnosed until nearly 10 months … his development was not keeping up with other kids.”
Hugh didn’t begin walking until nearly two years old, and now at two-and-a-half, he is still unable to speak.
He currently has a full calendar of early intervention therapies including physio, occupational therapy and speech therapy.
Mrs Thomas said it was hard to tell what Hugh’s future would look like.
“People with Williams Syndrome can be quite disabled but it ranges from mild to moderate.
“Some can go on and live independently but others can’t, they’ll need that support all the time.”
She said Williams Syndrome was just “a random thing” with no specific cause.
“It’s not inherited, it’s just a thing that happens,” she said.
The family soon realised that Williams Syndrome was so rare that even some allied health professionals had never heard of it.
They’re now committed to raising as much awareness of the condition as possible.
Mr Thomas is now the president of the Victorian Williams Syndrome Family Support Group.
“It’s a place where families with kids or relatives with Williams Syndrome can join and speak about their experiences and support one another,” Mrs Thomas explained.
“The group is purely for support, educating, and celebrating the beautiful people we have in our lives with Williams Syndrome.”
With May being Williams Syndrome Awareness Month, the group spent the month posting stories on Facebook that celebrated the successes of people with the condition.
Mrs Thomas said she hoped the group’s activities would create more awareness of Williams Syndrome to assist those with the condition and create a more inclusive world for them.
And as Hugh gets older, Mrs Thomas said she hopes her son can achieve his dreams.
“I hope he’s not excluded in any way,” she said.
“I hope he has little goals he’ll strive for.
“I want him to live a relatively normal life and have opportunities to do the things he enjoys.”
To find out more about Williams Syndrome, visit www.wsfsgvic.org.au
