Archie Black, 4, is one of 13,000 Australians living with a rare genetic condition, but his diagnosis gives him no certainty for the future.
"Neurofibromatosis is a hard word to say, but it's even harder to live with," his dad Tom Black said.
People with neurofibromatosis face problems with their sight, hearing, brain function, mobility and have an increased risk of cancer and chronic pain.
Archie was diagnosed with a kidney condition when he was three months old, but two years later when his speech was falling behind, his parents took him for further medical assessments.
"Within an hour and a half, neurofibromatosis type one was on the list for investigation and my heart stopped," Archie's mum Kate said.
"As much as we didn't want to accept it, we were about to approach the journey of neurofibromatosis and what it involved. We knew it was likely because he started developing little light brown markings all over his skin."
The markings are a symptom for some people diagnosed with neurofibromatosis, which is a group of genetic conditions that causes tumours to grow on the nerves.
The Black family were living in the small country town of Tambo, where Mr Black was the school principal, and celebrating the birth of George when they received Archie's diagnosis.
"Here we are with our four beautiful kids, and life's going to be perfect and really easy, and it hit us like a brick wall," Mr Black said.
There is no cure or treatment for the condition. It varies in severity from person-to-person and can develop over time with some people facing ongoing, "complex health issues that may eventually become life-threatening".
"It's a cruel gene because we might be on track now, coasting along and then we could hit a broken bridge," Ms Black said.
"We don't know what the next phase looks like for Archie and us as a family as well."
'It's quite scary'
Mr Black said Archie was currently tumour-free, but intellectually he was up to 12 months behind his peers.
He also has difficulty with his mobility, renal system, hearing and experiences fatigue.
The family had to leave their beloved country life behind, moving to Brisbane to be closer to Archie's therapies and regular medical appointments, which monitor how his small body is responding.
"It's quite scary to think that this is going to be every year. We're going to relive that month of waiting to find out results and getting results," he said.
One in 2,000 Australians have neurofibromatosis but the Children's Tumour Foundation's chief executive Leanne Dib said the condition was not attracting the attention or funding it deserved.
"The research that's been invested into NF (neurofibromatosis) is completely inadequate in comparison to other health conditions in the country," Ms Dib said.
"There is a clinical trial for children, which is quite a low percentage of people who are actually eligible for that."
Loading...Ms Dib said the condition had received minimal support from the federal government's $20 billion Medical Research Future Fund (MRFF) designed to support health and medical research.
"Less than one per cent has been invested into NF research across the country," she said.
The federal government's department of health has been contacted for comment.
Hope for the future
Thanks to fundraising, the foundation will next year launch an accelerated grant program to attract researchers in a bid to find treatments and trials.
"We'd love to see more options for families across the country so they can choose what they'd like to participate in and have more options for their medical health plan," she said.
Loading...Half of those diagnosed with neurofibromatosis inherit it from a parent, while others have no family history.
"We've got a long way to go in Australia and understanding some of those key drivers," she said.
Ms Dib said increased research could lead to early diagnosis and give those diagnosed a more certain future.
Families like Archie's are waiting for that day.
"Other diseases and conditions where there's a plan for treatment, you can go for it and get it done, but with neurofibromatosis it's a complete mixed bag," Mr Black said.
"As he gets older, it's likely going to become more and more complicated for him and as a parent, all you want is for your kid to have a happy, healthy life."
But their future remains uncertain.
"Don't get me wrong, you do enjoy each day to its fullest, however you always have in the back of your mind the worst-case scenario because it's a cruel gene," Ms Black said.
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2023-12-22 22:01:26Z
CBMiamh0dHBzOi8vd3d3LmFiYy5uZXQuYXUvbmV3cy8yMDIzLTEyLTIzL3FsZC1yYXJlLWdlbmV0aWMtY29uZGl0aW9uLW5ldXJvZmlicm9tYXRvc2lzLWFyY2hpZS1ibGFjay8xMDMxNTk5NzLSAQA
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