Finding cures for children's genetic diseases

A rare gem in a goldminer's town

If you’ve ever been to the Victorian township of Ballarat, you’d have witnesses among the silent cobblestone pathways laced by 18th Century establishments, a feeling of nostalgia gently guiding your mind back to 1851 – the start of its gold rush era.

The once tranquil vacant land swept up by hopeful goldminers in search of their fortune. Today, the regional city boasts a population of more than 95,000. And among that figure, a family of seven, forging their own path in this historic settlement.

Louise Gleeson and husband Martin, along with their five children Marty, David, Ben, Amy and Sean have among them a rare gem – more valuable than the gold which once glistened life beneath the soil of their family home.

So rare this gem, it is found in roughly 1 in 10,000 births. Amy was born with William’s syndrome – a rare neurodevelopmental disorder.

“She was born really little and we knew she was sick,” Louise said.

“She had two open hernia operations when she was just six weeks old and then she was still really sick in and out of hospital. At 3 ½ months she had a heart problem and we took her to the Royal Children’s for a heart operation – she had two holes in her heart.”

But despite having several operations at such a young age, Amy had not yet been diagnosed with William’s Syndrome.

“A genetics specialist in Melbourne did see her, but didn’t diagnose anything,” Louise said. She adds, “It was a Ballarat paediatrician that diagnosed Amy with William’s Syndrome at 11 months.”

amy2.jpgBefore that day, the Gleeson family had never heard of the disorder.

“As a child we were looking after her more constantly than the boys and there was twice as much work, so we knew ahead that we’ll be looking after her all her life.

“She’d never be able to live independently or drive a car.”

Amy is now 26 years old and has overcome many adversities, which come hand-in-hand with Williams Syndrome, thanks largely to unwavering support from the Gleeson clan.

“She’s very loving and very caring and she would hug anyone in the street when she was little,” Louise said.

“She’s not mentally the same as other 26 year olds, but she’s pretty good. She works at the lolly shop packing and selling and she loves music – if you play a song she’ll know it.”

And while forging a new historic path is not always easy when there’s little information to guide you, Louise shared this message for anyone in similar circumstances – life’s all about perspective.

“Every time you’re in hospital you look around and there are others in worse conditions, there’s always someone worse off, so take one day at a time and look around you.”

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