In four months Jasper Lyon has endured more than most people endure in a lifetime.

The little boy from Port Macquarie has Costello syndrome, a rare genetic disorder that affects every cell in his body.

Worldwide there are around 300 recorded cases of Costello syndrome.

Only two children in the world have the same scale mutation.

If that isn't enough to cope with, Jasper also has a very rare and life-threatening form of epilepsy called SCN1A and can suffer over 50 seizures per day.

His uncle Steve Lyon said Jasper's parents Matt and Sas are "putting on a brave face".

The couple had just returned to Port Macquarie where they had both been raised hoping to start a new chapter.

"When Jasper was born it was a really graphic site and they were completely unprepared because all signs (of which there were many) were missed on the multiple x-rays taken during the pregnancy," said Mr Lyon.

"Obvious there was something drastically wrong, the hospital didn't really know what to do."

When Jasper finally came home he stopped breathing and mum Sas had to revive him.

He was then airlifted to John Hunter Hospital where he has remained, with his mum "pretty much living in the PICU ward".

Father Matt returns to Port Macquarie during the week to work and look after their daughter Darling who has just started school.

"Initially they didn't want him to be judged before meeting him so they kept the diagnosis quiet," said Steve Lyon.

"You type in Costello in google and it is pretty confronting."

Jasper suffers from uncontrollable seizures brought on by the pain.

On his best day he may have one, on his worst day he may have up to 100.

Jasper's monumental battle continues with a life threatening staph infection in his feeding button and the central IV line that runs to his heart.

He is currently in an induced coma because he was seizing continually due to the pain of the infection.

Tomorrow (June 10) he has a lumbar puncture to see if the infection has spread to his brain.

Jasper will require 24hr nursing care for the rest of his life but his family wouldn't have him any other way.

"He's a little unicorn and we love him just the way he is," said mum Sas Lyon.

She paid tribute to Jasper's granddad Guy Rowland who has "basically put his life on hold to care for the family going back and forth twice a week between Port Macquarie and Newcastle" and Matt's mum Roz Lyon who has moved in with Matt and Darling to help keep family life running.

"Without them the family would not have survived," said Sas Lyon.

Steve Lyon is raising money for the family through GoFundMe "to provide some financial relief so Matt and Sas can focus their love and attention on their beautiful family in this extremely tough time".