Four-year-old Zoe Tamsett hasn't had the start to life that she deserves, but a supportive family and finally getting access to medical care has helped her through it.
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Zoe has a condition called neurofibromatosis [NF].
Despite being one of Australia's most common genetic neurological conditions, few people know about it.
Her parents, Tegan and Chase Tamsett, want to help change this.
"We had no idea what it was either," Mrs Tamsett said.
"No one else in my family has it. Zoe was our special little case."
World NF Awareness Day on Wednesday aims to shine a light on the condition.
And the Children's Tumour Foundation is running a virtual fundraising challenge this month called "Steps Towards a Cure".
A child is born with NF every three days in Australia.
When Zoe was in the process of being diagnosed, Mrs Tamsett was halfway through her second pregnancy.
"It was such a daunting diagnosis to begin with," Mrs Tamsett said.
"Let's just say with the hormones combined, it was a mess."
Zoe's first sign of having the disease was a larger than normal head size.
"My family and I laughed that off because we all have big heads. It was just, 'she's part of the family'," Mrs Tamsett said.
Then a paediatrician pointed out that Zoe had the condition's telltale "cafe-au-lait spots".
"We thought they were birthmarks."
The Tamsetts feared their second daughter could also get NF. But Mackenzie, now 20 months, is showing no signs of it.
About half of those who develop the disease inherit it from a parent, but Mr and Mrs Tamsett tested negative for the gene that causes the disease.
A geneticist in Sydney gave Zoe a blood test that was sent to the US.
It confirmed she had a genetic mutation that causes the condition.
"There's been many tears shed, but we've always tried to raise our kids with a positive attitude," Mrs Tamsett said.
"We've got to make the best of the situation and we're just lucky to have a supportive family that has been there for us."
NF causes tumours to form in the body. It can lead to deafness, blindness, physical differences, bone abnormalities, learning difficulties, chronic pain and cancer in 10 per cent of cases.
The foundation is running "Shine a Light on NF", with iconic landmarks in Australia to be lit blue and green to help with the awareness campaign.
Leanne Dib, Children's Tumour Foundation chief executive, said the condition had been "under-recognised for far too long".
"Despite affecting more than 10,000 Australians, NF manifests differently in each person," Ms Dib said.
"For those with visible signs of NF, they can struggle to be seen as more than their condition.
"Those with invisible symptoms often struggle to make others understand."
As part of the condition, Zoe was last week diagnosed with autism.
"She has a lot of developmental delays," Mrs Tamsett said.
She currently sees physio, occupational and speech therapists.
"We were living on the Central Coast and she was on waitlists there for two years, since she was about 18 months old."
Then they moved to Woodberry in Maitland.
"We were very lucky an awesome place, Neuro Alliance Paediatrics at Thornton, opened and we could get into those three specialists straight away."
Zoe gained approval for NDIS funding this year.
"Prior to that, we were paying everything out of pocket. It took a while because we couldn't get in anywhere to get evidence that she had delays," she said.
Mrs Tamsett said it is "quite a scary condition".
"Honestly, with Zoe it has been one thing after the other."
But they "feel blessed" that "so far it's not too doom and gloom for her".
"We're trying to get her ready for school next year as best we can."
Many children with the condition face hospital stays and chemotherapy.
Zoe has to see an ophthalmologist every six months and a paediatrician once a year.
Ophthalmologists check her brain stem for optic glioma, a tumour that grows between the eye and brain.
That's the most common tumour that forms in NF patients before age 8.
For more information or to make a donation, visit ctf.org.au/outoftheshadows.
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