'He all of a sudden couldn't lift his head - it was so rare only 20 kids had it'

“We got the diagnosis, but we didn’t have very many options because there wasn’t much known about the condition, nor is there any treatment.”

The first nine months of little Cooper’s life seemed completely normal.

He was developing as usual, and apart from being slightly late to sit up by himself, he was ticking all the boxes.

Then suddenly, almost overnight, everything changed.

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“Literally he just slumped one day,” mum Kyrsten said.

“Over a few weeks he lost control of all his muscles to the point that he couldn’t even hold his head up anymore.”

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Kyrsten and David with Cooper shortly after his diagnosis. Picture: Facebook

"There wasn't much known about the condition"

The sudden change led Kyrsten and her husband David to seek answers.

While Cooper was initially diagnosed with cerebral palsy, it wouldn’t be until just before his second birthday that his parents would receive their answer.

“We went through a few doctors and ended up at the Westmead Children’s Hospital with Professor Russell Dale,” Kyrsten said.

“He suggested that it could be a type of Aicardi-Goutières syndrome, and we tested him overseas and it came back as positive.

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“At the time he was one of only 20 kids with that condition in the world, so it was super rare.

“We got the diagnosis, but we didn’t have very many options because there wasn’t much known about the condition, nor is there any treatment.”

Aicardi-Goutières syndrome is a rare inflammatory disorder that affects the brain.

Affected individuals unfortunately suffer severe physical and intellectual impacts from the condition.

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Cooper's family have done all they can to provide him with as normal a life as possible. Picture: Facebook

"He's been a much happier kid"

Cooper was quickly put on a drug that helped reduce the amount of inflammation in his body, and Kyrsten said it helped immensely.

“It took a lot of the irritability away, because he was always so upset,” she said.

“He’s been a much happier kid (since the drug), and he was able to start regaining some skills as well.

“He could hold his head up again, and he could start to work on some speech, which allowed him to progress a bit.”

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Cooper loves horses, and rides as part of his physical therapy. Picture: Facebook

"Despite the challenges, he still loves life"

Then began a steady stream of therapies like physio, speech pathology, and occupation therapy, which have continued into his school life.

“He still has a speech therapist who comes in to help train literacy once a week at school,” Kyrsten said.

“He also has a lot of intensive therapy where, rather than just a weekly therapy, he’ll do a block of three weeks at a time, and you see bigger gains.”

Cooper is now 10, and is navigating mainstream school in Year 5.

“He’s a pretty happy, engaging and social child,” Kyrsten said. “He’s always wanting to be part of everything.

“He’s a full-time wheelchair user, and he plays power chair soccer for the Newcastle Jets in reserve grade.

“He just loves giving everything a go. Despite the challenges, he still loves life.”

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Cooper with his family at Thredbo. Picture: Supplied

"He wanted to throw a snowball at his dad"

Two years ago, Cooper and his family got the experience of a lifetime thanks to the Make-a-Wish foundation and Hungry Jack’s Wishmaker.

Kyrsten had been encouraged to apply for a wish, and after some hesitation, and a lot of back-and-forth with Cooper, they eventually settled on his wish.

“He decided he wanted to throw a snowball at his dad and his brother,” Kyrsten laughs.

“When the pack arrived with all the itinerary, he was so excited, and it was so nice to have something that was just about him, that was completely positive, and was something that he likes to do.”

The family went to Thredbo where Cooper was taken by the Disabled Winter Sports Association and taught to ski using a special ski chair.

He also got to throw those snowballs.

“We could all ski down the runs together as a family by the end,” Kyrsten said. “It was so much fun, and a real bonding experience.”

Originally published as 'He all of a sudden couldn't lift his head - it was so rare only 20 kids had it'