Now, thanks to growing community support, the Darfield boy and his family will fly to Brisbane on Friday to access life-changing physical therapy.
He is unable to walk unaided but can crawl, and is mostly tube-fed through a mechanical pump that delivers food directly to his stomach.
It took about seven months after his birth for a WITKOS diagnosis to be made, requiring his DNA to be sent to the rare diseases center at Helsinki University Hospital in Finland.
“Because it is so rare, they have only done two or three research studies, and they have very small sample sizes,” Cole’s mum Anna Sheen said.
Sheen said the family gets some information from a private Facebook group for other families affected by the condition, but much of what they’ve learned has been through experience.
“We just follow (Cole’s) lead basically, and Cole will be Cole,” she said.
Most of Cole’s medical challenges have centred around respiratory issues, particularly when he’s sleeping.
“He can be on CPAP sometimes, which he hates because it is a mask over the nose and mouth.”
Despite his challenges, Cole attends Annabel’s Educare kindergarten three part-days a week and is due to start at Darfield Primary School next year.
With the support of a $12,500 donation from the Malvern Lions and other fundraising efforts – including a clothing sale in Lincoln over the weekend – Cole will be able to receive another three weeks of intensive therapy at the NAPA (Neurological and Physical Abilitation) Centre in Brisbane.
Sheen said the total cost of treatment and travel is about $30,000, all of which they have to raise themselves. They raised $4170 from a Givealittle page earlier this year, and $17,317 from another page last year, which aimed to o help Cole learn to walk, talk and feed independently last year.
“We have a physio allocated to us, but she can only see us every three or four months.”
Sheen said she was amazed when they first travelled to Australia in May and saw the level of support families received there.
“The families going to NAPA had everything paid for, and they were going three to five times a year.”
She met several families who had previously lived in New Zealand but relocated to Australia full-time to access better support.
“Hopefully, with more people talking about these things, change might happen.”
