Melissa McClellan knew "something wasn't right" when her then two-year-old son, Hamish, preferred to sleep in his pram instead of playing with the other kids.
Key points:
- Neurofibromatosis is a set of three genetic conditions
- Treatment options are limited and there is currently no cure
- Landmarks across the country will light up blue and green tonight for World Neurofibromatosis Awareness Day
"I would say to my friends, 'He shouldn't be tired all the time. He's lethargic,'" Ms McClellan said.
"Kids that age are just running around crazy, but Hamish wasn't like that."
Numerous doctors appointments failed to offer an answer but the appearance of several new birthmarks provided the diagnostic key.
The paediatrician revealed they were called 'café au lait' spots, a hallmark of neurofibromatosis, a genetic condition.
ABC Newcastle: Anthony Scully
)Progressive and unpredictable
Neurofibromatosis (NF) is a set of three complex genetic conditions that cause tumours to develop on nerve cells throughout the body, including the brain, spine and skin.
It can lead to a range of other complications including chronic pain, learning difficulties, deafness, visual impairment and cancer.
According to Newcastle geneticist Tracy Dudding-Byth, neurofibromatosis is one of the most common neurological genetic conditions, but she says not a lot of people know about it.
"The Children's Tumour Foundation is trying to raise awareness so that people who have NF are supported but the people who don't know anything about this condition, learn about it," Dr Dudding-Blyth said.
"The impact of having a diagnosis of NF1 (the type that most often appears in children) is really difficult for the individuals with NF1 but also their parents.
It is a feeling Hamish's mum, Ms McClellan, relates to.
"While Hamish is cruising along smoothly now and his tumour is stable, we don't know what's going to happen once he hits teenage years," she said.
"That could change everything."
Treatment options are limited and there is currently no cure.
But it is hoped $8 million recently announced by the Federal Government in dedicated research funding will help change that.
"We were completely blown away by the fact that we have this funding and hopefully through this funding, we will give hope to people who have NF," Dr Dudding-Blyth said.
ABC Newcastle: Anthony Scully
)'Does everything with a smile on his face'
Now nine, Hamish, who is an avid sportsman, has not allowed the condition to get in his way.
"I love sport because I get to play with my friends. I really love playing pool, cricket and basketball," he said.
"When I grow up, I want to be a professional golf player."
The condition has impacted Hamish's muscle tone, speech and fine motor development, which have improved through weekly therapy sessions.
Supplied: Melissa McClellan
)"I'm scared about hitting my head and getting headaches. I don't like the MRIs," he said.
Hamish recently started trialling a Mollii Exopulse suit, a tight-fitting garment fitted with electrodes that stimulate certain muscle groups.
Despite the challenges presented by neurofibromatosis, Hamish's mum said he was determined to overcome the condition.
"Nothing will keep him down," Ms McClellan said.
"He gives everything a try and even though he can't do it perfectly, he doesn't care, he does it to his ability.
"He really is just happy and does everything he has to do with a smile on his face."
Source: ABC