Neurofibromatosis is a word that Alison and her husband have only been familiar with for the past nine years. When their first-born William was 12 months old Alison knew that something was not quite right, but the diagnosis of Neurofibromatosis was something that Alison had to fight for. Her mission to find answers was a long and tedious road that required numerous appointments with doctors and specialists.
After months of trying to navigate the medical system, Alison and her husband finally found a doctor that would listen and it was then that William was sent for genetic testing.
The wait for results was agonising and when the specialist confirmed Neurofibromatosis Type 1, Alison and Brendon had never heard of the condition.
It was explained to the Aberley’s that NF could result from a spontaneous genetic mutation or it could be passed on from a parent.
Much to her shock, Alison was also given a diagnosis of Neurofibromatosis as an adult, based on what she thought were simply birthmarks and innocent moles.
Unlike Alison, who had reached adulthood without being symptomatic of her NF, William faced numerous medical issues caused by his NF1. William was diagnosed with lesions on his brain, a blocked artery in his brain and spine and low muscle tone, which makes simple tasks like walking, playing and eating difficult. It also affects his ability to gain weight.
Will was also diagnosed with ASD and ADHD, and according to Alison, “with all the medication he is on to help him regulate his behaviour and function, he could rattle when he walks”.
The medication that Will is on for his ASD and ADHD also means that, he is restricted in the activities he is able participate in. It has also meant adding various therapies to his already full medical schedule and that he has struggled in his early years of school and has required significant early interventions.
Nine years on William now has a little brother and is in grade five at school and is loving learning. According to Alison, “Will is required to see a team of specialists for his tumours, learning and development and with all the specialists and tests, he is at hospital at least once a month. This makes schooling difficult, when we are having to pull him out of school constantly.”
It is difficult to explain to William because he can see his younger brother learning without medication, participating in sport and can identify the differences in their childhood experiences.
His brother isn’t required to attend the hospital and doctors every month nor does he struggle with everyday tasks.
Alison and Brendon are always playing tag team with specialists. These include speech therapy, occupational therapy, phycologist, paediatrician, cardiologist, generalist, neurologist, dietitian, ophthalmologist, orthodontist just to name a few.
“Remembering doctors names and appointment times becomes a full-time job.”
If there is one thing Alison and Brendon have become experts at, it is organisation and organising appointments.
“Although the diagnosis was devastating, you move on. You have to. You want your child to have a childhood that is as normal as possible. You do what you need to keep your child healthy and happy. Like any parent I would do anything for both of my children. As long as they are healthy and happy, I figure I’m doing something right.”
Alison Aberley
Will aspires to be a primary school teacher when he gets older, and according to Alison, “We as parents will do everything possible to make this happen as we believe he can do anything he puts his mind to and he would make a fantastic teacher.”
Alison says, “the hardest thing about NF is seeing your child struggle and not being able to do anything to help but be there as support. No one likes seeing their child hurt. It’s not fair when you have a child struggle with health issue and know that it is not their fault”.
Alison and Brendon have had to educate William’s school, teachers, doctors and numerous medical professionals about Neurofibromatosis. She says, “It is still surprising at the lack of knowledge and understanding of NF1. It’s upsetting when you see a doctor who has never heard of it”.
As an adult who was diagnosed with NF, Alison says, “It is shocking that so many people have NF but so few know about it. We need to get more information out into the public about NF and educate people of the effects of it. NF affects everyone differently. I think that is why it is hard to improve awareness and educate the broader community just how detrimental it can be for some to live with”.
As for Alison, she has been lucky as far as NF goes. If you ask Ally about her NF journey she is nothing but positive and grateful to have had such a “mild case”. This is even after having to endure a double mastectomy in 2020.
Women with NF have a much higher chance of developing breast cancer. Alison especially because she has a family history of breast cancer with a high mortality rate.
Due to this, Alison had to have yearly MRI breast scans. In 2018 her scans were clear. In 2019, in less than 12 months, her scans showed multiple growths in both of her breasts.
Alison is incredible and refuses to let her NF diagnosis define her or dictate her life. She volunteers for the Children's Tumour Foundation, she is a firefighter for NSW Fire and Rescue, and she is a loving mother, friend, and daughter.
She is also an apprentice electrician. Alison's priority and purpose in life is being a mum to her two boys. Specialists suggested a double mastectomy, to save her life.
In 2020, just after new year’s celebrations, Alison had both of her breasts removed. She returned to work as soon as she was physically able and despite undergoing major surgery, she was on the front line fighting fires with her crew when Australia faced the bushfire crisis during the 2019/2020 fire season.
Alison is an inspiration and she is determined to show her son that NF is just a diagnosis, it doesn’t define you and that you can achieve anything you put your mind to and work for.
“Explaining to everyone what NF is – what it does, what they can get what tests need to be done – it’s so exhausting. Since finding out William had NF1 I was so surprised at the lack of public knowledge or help available. It’s amazing how many people have NF, but so many have never heard of it. Now we just need to spread awareness and get the word out about NF.”