Kobi Doyle is a six-year-old boy who loves the swing, kisses and swims in the river.
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He is also one of only 100 children in the world living with coffin-siris syndrome.
For his mother, Ella Delphin, the journey to Kobi’s diagnosis in December was long and challenging.
“I had a great pregnancy … when Kobi came, at first he had trouble feeding, he would turn blue and need oxygen and CPR,” she said.
“Then he was moved to Westmead Children’s Hospital where they did some tests and found some things in his brain and his skeletal makeup were a bit different.”
Ten months later, with no consensus from doctors about why Kobi’s condition was deteriorating, Miss Delphin was faced with a choice.
“We had a choice of palliative care or tracheotomy, a tube in the neck,” she said.
“We chose the tracheotomy to buy more time.”
Kobi can’t walk or speak, but with hard work in physiotherapy, his mum hopes he will one day sit unassisted.
She also hopes to find another family in their shoes.
“Kobi’s case was put to a genetics conference in Melbourne,” Miss Delphin said.
“Geneticists from around the world couldn’t come up with anything new.
“In December, the testing was negative but the geneticist is sure (coffin-siris syndrome) is what he’s got.
“It means I don’t have to worry that it’s degenerative.
“He’s never fit into a mould, so it would be good to see what the families are doing.”
In the meantime, Miss Delphin needs a wheelchair-accessible vehicle to transport Kobi, who attends Belvoir Special School, safely.
“We’re hoping to raise about $30,000, the price of a second-hand car,” she said.
“With the car we are borrowing, we fold the wheelchair up and put Kobi in a special chair.
“The buses here are great, but if its raining, Kobi’s machinery can’t get wet, his tracheotomy can’t get wet, it makes life so much harder.
“A wheelchair vehicle is much safer, we’ll be able to wheel and lock him in.”
The freedom of travel is not the only reason Miss Delphin needs a vehicle – Kobi will soon have a sibling.
“Since birth, Kobi has been treated as fragile, whereas the kids rough and tumble and he loves it,” she said.
“He’s a visual person, so once the baby comes I think he will be very responsive – he will be a good big brother.”
To donate, go to www.mycause.com.au/page/127956/just-4-kobi.