Parents of a Bendigo boy with one of the world's rarest degenerative conditions, which was misdiagnosed for years, are hopeful new research could slow the disease.
Edward Boyer, 12, is one of only about 500 people worldwide to be diagnosed with a neurological degenerative condition called KIF1A Associated Neurological Disorder (KAND).
It has left him legally blind and unable to walk, with nerve damage causing loss of blood flow to his lower limbs.
He also has absent seizures and a melatonin deficiency, as well as cognitive and behavioural challenges.
At the time of his diagnosis in 2015, Edward was one of just 12 people recognised with KAND in the world, but his parents were initially told by doctors he had cerebral palsy (CP).
"It wasn't until they did the genome sequencing in 2015 that they found the KIF1A mutation," Edward's mother Catherine Boyer said.
"You couldn't even look it up on Wikipedia. It didn't exist apart from this one, six-page document because somebody had researched these particular mutations in the gene."
It wasn't until 2016 that Edward's parents discovered the KIF1A Foundation — an organisation that believes the incidence of this condition could be in the tens of thousands, but many are yet to receive a diagnosis, or they've been misdiagnosed.
According to the foundation, one in four of those diagnosed with KAND mutations previously had a cerebral palsy (CP) diagnosis like the Boyers.
"We always thought we were dealing with cerebral palsy and all of the medical professionals kept saying to us we don't think it's CP, but it's very similar to CP," Ms Boyer said.
US study could lead to treatment
The Boyers are hopeful Edward could soon be part of a United States-based research study that could lead to the development of medication that would slow the condition and stop some aspects of it.
"For Edward, the main thing that regressed so badly was his eyesight and his ability to walk," Ms Boyer said.
"When he was four-and-a-half, he was able to walk a lap around a local lake with the assistance of a walking frame. Now he's lucky to walk from the kitchen to the front door in a frame.
"It certainly frustrates him, he's very vocal about it, which is good – that's something that I got onto very early in the piece with his speech because I noticed there were delays, that he wasn't hitting these milestones at a very young age."
But first, Edward's family has to raise enough money to take him to New York. Once he gets there, he'll undergo tests to see if he can be part of the research study.
"It's one of the most expensive things to do, especially when you've got to take into consideration a 12-year-old that is in a wheelchair, travelling potentially a 26-hour journey with stopovers and flight delays," Ms Boyer said.
The search for a cure
Families getting a confirmed diagnosis from genomic testing is key, according to Simranpreet Kaur, senior research officer at the Murdoch Children's Research Institute (MCRI) and Royal Children's Hospital.
"With the genomic testing now, things are quite different from 10 years ago, in fact even five years ago, when it used to be very slow and very costly," Dr Kaur explained.
The cause of the KIF1A gene mutation is unknown.
"It could be inherited from the parents, or it could be a brand new variation in the individual child, so there are multiple different ways this can be costly to the genome of each child," she said.
MCRI is part of a national collaborative network, which includes the Royal Children's Hospital, Children's Medical Research Institute (CMRI) at the Children's Hospital at Westmead, the University of Melbourne, and the University of Sydney, along with international researchers who are also looking into treatments for KAND.
"The research that we're leading here in Australia is the first program that's been initiated to find the possible cure for KAND," Dr Kaur said.
Something the Boyers and other families living with KAND are desperate to see happen.
