One family's journey with the little known condition affecting one baby born every three days

Picture: Shelly with her two sons Jonathan, 15 and Alex, eight who has NF1
Picture: Shelly with her two sons Jonathan, 15 and Alex, eight who has NF1 

Neurofibromatosis is a condition that affects one in every 2,500 Australians, yet most have never heard of it. 

The genetic disorder, also known as NF, causes tumours to form in the brain, spinal cord and nerves, and can cause a number of related, chronic and debilitating health conditions.

In Australia, one baby will be born with the condition every three days and of the three types (NF1, NF2 and Schwannomatosis), one also causes bone deformities and learning disabilities, another hearing loss and the third chronic pain among many other symptoms.

Picture: Alex, eight, who lives with NF1
Picture: Alex, eight, who lives with NF1 

The condition was new to Shelly Lynde when she discovered what looked like a light birthmark on her son Alex Neamontis when he was six-months-old. 

When more started to appear, she asked Alex's neonatal pediatrician, who told her they were 'café au lait' spots, a common marker for NF1.  

"It seemed like he went from having one to having them popping up all over his body in a short period of time," Shelly told Essential Kids. 

"Alex had a number of soft markers, which in isolation would be perfectly normal, but when grouped together, quite clearly NF1 was to be suspected. We were referred to a pediatrician who had a background in NF1 and he looked at these markers collectively and said he felt it was that." 

​It would take close to a year, due to a complex range of other health complications for the toddler - including emergency heart surgery for an underlying defect and a brief family move interstate, before genetic testing of Shelly and her husband found it was definitely NF1. 

"I had never heard of it, and me being me, when the first birthmark popped up I played Dr Google and NF1 was one of the things that came up. It's so common - as common as cystic fibrosis numbers, and I thought 'why has no one ever heard of this?'"

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"It's still a struggle with family and friends, it's such a long word and no one has much awareness of it so people forget what Alex is dealing with. It's been a big journey for us as a family to learn about it." 

While around 50 per cent of cases are inherited, both parents tested negative, meaning Alex's condition was caused by a spontaneous mutation. While the cause does not impact his treatment, it gave them comfort that their elder son Jonathan, now 15 - who Shelly describes as his brother's biggest supporter - would not be affected. 

Now eight, Alex is at school and doing well, but it takes an army of specialists - 11 all up and regular speech, occupational therapy and physiotherapy to manage the condition. 

Additionally he also has ADHD and Autism - which affect around 20 per cent of children with NF1 - as well as a global developmental delay. 

Despite the family's challenges, Shelly said she feels grateful, as she's linked in with the Children's Tumour Foundation (CTP), who help to provide access to support services, invest in research and treatments and advocate for improved access to care and promote awareness. 

"I feel so fortunate on so many levels that we have been able to access great specialists, and Alex's schools is amazing, his specialists are on the same page and work colaboratively...the CTF have helped with that," she said.

"They're really the only organisation that provides that support. For everything from dealing with the medical system to the government system like NDIS funding, plus work and if families might have other children, the list goes on so it's nice to know there's someone you can call upon to say 'hey I'm stuck with this, where do I go?'" ​

It's something Shelly would like to see all families living with NF to be able to have access to.

On Wednesday the federal health minister Greg Hunt announced $8 million in funding to support more research into the condition. While $7 million will go towards developing new interventions and improving health outcomes, $1 million will help CTF continue their support and advocacy work.

While this is a huge win for the community, Shelly says there's always more needed, especially as the CTF are mostly reliant on donations.

Which is why this weekend she's roping in a number of girlfriends for a virtual Cupid's Undie Run event, the annual fundraiser for NF and the CTF. 

Pre-COVID-19 times would seen a large cohort of scantily clad runners in red underwear running around 15 towns and cities, this year the event has been moved online.

Running from Valentine's Day to February 28, it will open with a virtual run and two weeks of challenges for participants.