Finding cures for children's genetic diseases

Genetic disease can't keep Joel earthbound

“We’re all good at different things,” Amanda Short explained to her two daughters about their brother Joel’s condition.

“Joel has things he’s good at, he’s very loving and affectionate and he’s a good reader and loves to read.”

In May 2012, the Short’s discovered Joel has 2q37 deletion and 11q 24.3 duplication.

“I explained it to the girls that we all have chromosomes which make up the human body, but Joel is missing some and has more of others.

“This can make him very emotional and makes it harder for him to understand a lot of what we do, so we have to be patient with him.”

But nine-year-old Joel is not the kind to sit back and let deletion or duplication of chromosomes hold him back.
His aim is to be an astronaut – a certain movie about genetic disposition and external limitations crosses the mind.

And if Ethan Hawke’s character Vincent Freeman in Gattaca is any measure, Joel’s got every chance of turning his dream into a reality.

But first thing first – High School.

“Joel’s in mainstream school in year four and he’s coping alright at the moment,” Amanda said.

“He has some difficulties with handling his emotions and difficulty in class.

“He’s a bit later in terms of speech development than other kids and very emotional – he can have outbursts – and as he got older that’s when we noticed children his age were progressing further along than he was.

“He has trouble with learning, but the big thing for him is social and emotional development, particularly in the way he processes things.

“He thinks about things and processes his thoughts slower – he can do things, but it takes more for him than other kids.”

But Joel has a good role model at hand and one ready to provide an inspirational boost with the ability to prevail over any mental or physical hurdle.

Joel’s mum has competed in the City to Surf 14km fun run in Sydney the past eight years to raise money for charity and support research into her son’s rare chromosomal disorder.

And it seems inspired by his mum’s efforts, over time, Joel has proven there’s no challenge he’s not ready to face.

Keep your eyes peeled for astronaut Joel Short, who as a nine-year-old refused to see the sky as a limit.

One day we will beat childhood diseases. Until then, we need your support.

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