May is Neurofibromatosis Awareness Month, and the Children's Tumour Foundation is determined to bring the genetic condition known as NF "out of the shadows".
The awareness campaign aims to educate the community on the signs and symptoms of NF, as well as build support for the many children and adults living with the condition, which affects about one in 2500 people.
Cessnock boy Hamish McClellan is among the estimated 10,000 Australians living with NF, a genetic condition that can cause tumours to form on nerves in the body, including the brain and spine.
Hamish - who turns 10 in June - was diagnosed with the condition when he was three years old.
His mother Melissa said she suspected something was wrong from age two, but they just needed the right doctor to know.
"While other kids would be running around, he would just want to sit in the pram and sleep. He then started to choke occasionally on fluids and some new birth marks appeared on his skin," Melissa said.
"After several doctors appointments and no answers, we finally got referred to a paediatrician, who as soon as I mentioned the birth marks knew exactly what the problem was.
"He told us the marks were 'cafe au lait' spots which were associated with a genetic disorder called Neurofibromatosis."
Skin manifestations - freckling in places that you wouldn't normally see freckling, under the arm and in the groin - are often the first sign of NF in childhood, says head of the Royal North Shore Hospital genetics department and medical advisor to the Children's Tumour Foundation, Associate Professor Mimi Berman.
"One of the issues is that the signs of NF can be easily dismissed to the untrained eye and they can just look like birthmarks," Associate Professor Berman said.
"We often get the story from families that it's taken them quite a while to reach a diagnosis."
While Hamish's family all tested negative, he was confirmed to have had a spontaneous gene change and officially diagnosed with NF1 (the most common form of neurofibromatosis).
"We were all shattered by the news, but for Hamish's sake and the sake of our other children, we had to accept what this diagnosis would mean for him and our family - and do what we could," Melissa said.
A benign, but inoperable tumour was found on Hamish's brain stem. "All we could do was to monitor it and hope for no changes," Melissa said.
Since his diagnosis, Hamish has had several MRI brain scans (the earlier ones under general anaesthetic); had his tonsils and adenoids removed, and two pharyngeal flap procedures; and undergoes weekly occupational therapy appointments, and fortnightly physiotherapy and speech appointments.
But he doesn't let this stop him from enjoying his childhood - Hamish likes to swim, ride his bike and scooter, play basketball and cricket, and recently won a golf competition for his age group.
"He may not be the best at these activities or as strong, fast or as smart as the other kids his age, but he has always given them his best effort and achieved what he strives for," Melissa said.
"He is a determined little boy who is not afraid of a bit of hard work and does it all with a smile on his face."
Melissa said their family has taken part in many events for the Children's Tumour Foundation, including the annual Cupid's Undie Run.
She said it's important to raise awareness of NF because the more people who know about it, the more likely it is that a cure will be found.
"I want to bring NF out of the shadows because no family should have to watch their children go through unimaginable pain and surgeries while also having to deal with tumours," she said.
"I definitely want to kick NF in the butt, so no more children have to deal with it."
- To find out more about NF Awareness Month, or make a donation to the Children's Tumour Foundation, visit ctf.org.au.
I definitely want to kick NF in the butt, so no more children have to deal with itHamish's mum Melissa