Thousands of Australian children and adults live with a complex genetic condition called neurofibromatosis (NF), which causes tumours to grow on nerves within the body, including in the brain and along the spine.
While NF is one of the most common genetic neurological conditions in Australia, it is poorly understood and underfunded.
This May the Children’s Tumour Foundation (CTF) will hold a virtual fundraising challenge, Step Towards a Cure as part of NF Awareness Month this May, with the money set to go towards life-changing research.
Progressive and unpredictable, NF can lead to significant health issues such as deafness, blindness, physical differences, bone abnormalities, learning difficulties, chronic pain, and in 10 per cent of cases cancer.
Taylah Ross of Point Clare has Neurofibromatosis Type 1.
“When I was a baby, my mum first noticed lots of marks on my body while she was bathing me,” she said.
“She took me to the doctors who then referred us to a paediatrician.
“He suggested a trip to the genetic clinic at Westmead Hospital.
“We underwent genetic counselling, where they discovered an error on gene 17.
“I was then diagnosed with NF1.
“My mum and dad were also tested but they were not carriers of the condition.”
At the age of three, Taylah had her first operation to remove a plexiform neurofibroma which was growing on the back of her neck and causing discomfort and a lot of headaches.
“It grew back a few years later and had to be removed again,” she said.
“This has left me with an unsightly scar.
“Starting school was hard.
“I had learning difficulties that made school and learning even harder.
“Throughout school I had several psychometric testing’s which showed I was not reaching my milestones.
“I had friends during primary school, but none that I could relate to. I never told anyone about my condition.
“When I was 15, I had another plexiform neurofibroma removed from my leg.
“Growing up, my life has been full of regular MRIs and PET scans.
“I never wanted to talk to anyone about it, because it meant I was different and did not fit in.
“My mum and dad have always taken care of everything and have made sure I remained educated about my condition.
“I have a lot of café-au-lait marks and many lumps over my body.
“I also suffer from scoliosis, which significantly affects my life.
“I have chronic back pain and often feel fatigued and tired.
“A few years ago, they found a tumour at the base of my brain; we now monitor this with regular MRIs.”
Taylah said she had now decided to own her condition and share her story.
“We are nowhere near a cure for NF,” CTF Executive Officer Leanne Dib said.
“Recent developments in treatment options have proven promising in slowing the development of some tumours but are limited in terms of accessibility and most are still in the trial phases.”
Registration to take part in Step Towards a Cure is free at https://www.stepstowardsacure.com.au/.
Terry Collins