By Olivia Condous
Like many other five-year-old children, Caleb Ross loves jumping on the trampoline, karate and playing outside.
But Caleb is unique from other kids his age, as he’s one of eight people in the world with a rare genetic disorder that causes him constant pain and leaves him with an uncertain future.
Caleb’s condition is caused by a disruption in the protein coding gene called Neurod2, a gene that is located in the brain and has been linked with epilepsy and autism.
Caleb’s mother and Bacchus Marsh resident Michelle Ross said as the disorder is so rare, genetic experts are unable to provide an official diagnosis or any information on how it will affect her son’s future.
“We’ve got no idea what each day is going to bring, so it’s just an absolute nightmare and because there’s no information out there, it’s so scary,” Ms Ross said.
“They just said that he’s going to deteriorate over his life, from what they can tell.”
Expert researchers are currently conducting tests on mice with the gene overseas and have been sent Caleb’s genetic results by the Royal Children’s Hospital genetics team to try to learn more about the disorder.
Ms Ross first suspected something was not right with her son when he was four months old, as he started behaving strangely.
“He used to roll to whatever he could get to and head bang, bang his head on absolutely everything… so obviously we got that looked into straightaway, because I was very concerned.”
Caleb was diagnosed with autism at the age of three, but Ms Ross knew there was something more that wasn’t right.
“I just knew something more was going on with him.”
The family started the genetic testing process more than two years ago and only received confirmation of Caleb’s rare genetic disorder in March this year.
The disorder presents with symptoms that align with autism and ADHD, but with added neurological, behavioural and physical complications.
Ms Ross said her son struggles to sleep, can only walk for a couple of minutes at a time without pain and has ‘silent’ epileptic seizures.
“He loves to be active but can’t because he struggles with pain, it’s really hard for him and he gets frustrated because of that,” Ms Ross said.
Caleb’s family are currently running a Go Fund Me campaign in order to raise much needed funds for an assistance dog and other equipment he needs.
Caleb receives funding from the National Disability Insurance Scheme (NDIS), but with his growing needs he’s already exhausted funds and is currently undergoing an extremely lengthy plan review process.
The cost of purchasing and fully training an assistance dog is about $70,000 and Caleb’s parents are reaching out for help.
“We’re doing what we need to do now to get him the support he needs,” Ms Ross said.
To support Caleb, follow the link to the Go Fund Me page here: www.gofundme.com/f/calebs-rare-condition-fight
