Dialog Box

Children's Tumour Foundation of Australia

Emily's Story

Emily was diagnosed with NF Type 1 in 2008 at just 10 months old.

After our local GP noted numerous “birthmarks” resembling café-au-lait spots, indicative of NF, Emily was promptly referred to Westmead Children’s Hospital for further evaluation. It didn’t take long for specialists at Westmead to confirm the diagnosis.

During infancy, Emily experienced a severe curvature in the lower part of her right leg, which hindered her ability to stand or walk comfortably. This curvature was symptomatic of NF-related pseudoarthrosis of her right tibia (shin bone), which impaired both bone development and weight-bearing strength in her lower leg.

Emily underwent the first of several surgeries and was also fitted with a leg brace shell to safeguard her fragile infant leg.

Emily recalls, "...I remember it being really hard to get about because of my broken leg. I didn't really understand what NF was, but Mum and Dad were very worried."

At the age of 4, we learned that Emily had two inoperable lesions deeply embedded within her frontal lobe. Additionally, Emily began experiencing epilepsy, enduring frequent absence seizures. By the time she turned 5, she had already undergone multiple leg surgeries, which included the implantation of donor cadaver bones and the application of a confronting illizoroth frame to help mend and stabilise the deteriorated bone. The external frame penetrated her leg and pierced her bone to help stabilise the tibia and fibula.

"...The (illizoroth) frame was very scary, it was painful, it was so scary and painful to clean and often hurt when I bumped it. I had it for about 15 months. Other kids used to stare at my leg and were very curious about it. I was so happy when they finally removed it, but my leg was not healed, and I soon broke my leg again riding a trike when on holidays in Coolangatta. We had to go straight back to Westmead hospital." says Emily.

As Emily commenced her kindergarten year at the age of 6, she was forced to rely on a walker and wheelchair for mobility at school.

In 2013, Emily and her parents faced a difficult decision – to undergo surgery to amputate a portion of her lower leg and receive a prosthetic limb. The decision was driven by the need to protect her fragile leg from future fractures and breaks.

Emily eagerly awaited the procedure, hopeful for relief from the pain and fractures in her shine. Remarkably, within just three days post-surgery, she was already wheeling herself around the hospital ward in a wheelchair, brimming with excitement for the newfound mobility that lay ahead.

"I was so happy to finally have the surgery that would help my painful broken leg. I could tell Mum and Dad were worried, but I was excited, but a bit scared too," recalls Emily.

At this time, her frontal lobe lesions were still being closely monitored, but thankfully remained stable in size, causing no noticeable issues. Emily’s epilepsy was also managed effectively with medication.

Only a few months after her final leg surgery, Emily strode confidently about with her first custom music styled, and very colourful prosthetic leg. Throughout her journey, Emily’s unwavering positivity and bravery has shone bright, guiding her through surgeries and recoveries with resilience.

Throughout the primary school days, Emily’s prosthetic legs underwent regular replacements, often coinciding with her appointments at Westmead, where her NF, brain lesions and epilepsy were closely monitored. Each prosthetic reflected Emily’s personality, uniquely crafted with vibrant colours and styles she hand-picked from materials at Spotlight.

During her high school years, Emily experienced a significant reduction in her epilepsy symptoms and medication, with episodes becoming less frequent and less severe over time. Eventually, she was able to discontinue her epilepsy medication altogether and now manages her condition without the need for medication.

Additionally, the lesions in her frontal lobe continue to be monitored and have remained consistently stable throughout this period.

During Emily's NF journey, we have hosted and attended many Cupids Undie Run events, as well as NF Hero days and an NF Mates Day. We have attended CTF camps and functions, which has all helped to raise our awareness of NF in our local community with the support and kindness of the Children’s Tumour Foundation

"...The Undie Runs and Hero Day in Port Macquarie that my Mum and Dad put together were really fun. We had a lot of friends support these fun days and helped to make it really exciting. We went to the Gold Coast one year and met people from MAFS and the GC Titans NRL team...it was cool..."

Through Emily’s Dad’s workplace at Essential Energy, we have also been able to establish further awareness and support through an employee Essential Giving voluntary donation stream that help provide funding to the CTF. Funds that are matched by Essential Energy.

Now at 17 years old, Emily has started her senior high school years, studying Aged Care, Tourism and Child Care. She loves art, Harry Styles, creating digital pet art and has an amazing circle of friends who support and care for her.

"I know more about NF now, and am pretty open with what I remember about my own NF experiences, it doesn't seem as scary as we once thought. I am lucky to have a kind group of friends, and a very loving family that support me."

Emily has also begun learning to drive and drives surprisingly well with her prosthetic leg! Emily has worked at a local cafe and volunteered at a petting farm. She is now currently employed part time at Kmart whilst studying.

Emily is well known for her kind and generous nature, but most of all, her big generous smile that she welcomes all with. Often when asked about her colourful prosthetic, she takes the opportunity to tell people about NF and the CTF.

Emily and her two sisters are a formidable team.