EVERY parent wants their child to be exceptional.
But when your son is one of only 120 people in the world with a rare genetic disorder, being exceptional can be isolating and scary.
For the Melbourne family of Ace Bartlett, who is nearly two years old, the path from diagnosis to treatment was dark and arduous.
When he was born, their blue-eyed little boy slept so much, mum Bianca and dad Ian would joke that they didn't see what was so hard about raising a baby.
"We thought, gosh this is easy," Bianca Bartlett says.
But when he was about three months old, something in Ace changed.
He became irritable and wouldn't feed.
Mrs Bartlett remembers the hot, long weekend when they realised something was critically wrong.
"He was just awful, screaming, refusing to feed, just a completely different child," she says.
They rushed him to the hospital, but nothing showed up on the tests doctors ran.
After more referrals and yet more tests they still had no answer.
Mrs Bartlett was beside herself with worry.
"He just wasn't reaching those developmental milestones," she says.
It took several months to find a definitive answer.
Ace's symptoms were originally diagnosed as a cow's milk protein intolerance, and then a stroke, before it turned out to be an extremely rare, degenerative genetic disorder.
Aicardi-Goutieres Syndrome had caused calcification in Ace's brain that has hampered his motor development.
So far he has defied his prognosis, but with so little information, helping Ace achieve his potential is a matter of trial and error for the Bartletts.
"Literature says he should be going backwards but he's not, he's getting better," Mrs Bartlett says.
The internet has been useful for connecting them with other families who are also dealing with AGS; there's a little boy in France, and a family in Washington who have a daughter with it recently contacted them.
Ace attends the Cerebral Palsy Education Centre (CPEC) for a range of therapies to help his development.
This currently includes being dressed in a burns suit after the CPEC accidentally discovered it helped children with muscle development.
"If things don't work we pull out of it and try something else," Mrs Bartlett says.
She scours the internet for information and forums, but she says she tries to avoid paying too much attention to what others are doing because she wants Ace to find his own way.
"Ace is Ace and he's going to make the progress that he's going to make," she says.
"I don't care what he can do, as long as it's the best he can do."
* The Bartlett's Melbourne Marathon team Race for Ace will be raising money for the CPEC on Sunday. Donations can be made at http://melbournemarathon2013.gofundraise.com.au/page/BartlettI
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