Jack was born in 2017 in Melbourne, Victoria and is our child after his sister Edie, who is 2 years older. Jack was born with a bowed leg, which was initially thought to have been caused by his breached position in utero.
At 7 months of age, following a trip to the GP and a subsequent referral to an Orthopaedic Surgeon, Jack was diagnosed with Tibial Dysplasia - a rare symptom of NF1 occurring in around 1 in 150,000 births.
Apart from a few Café-Au-Lait spots which were thought to be birth marks, Jack did not display any other symptoms at this time.
The initial diagnosis was a shock as there is no family history if NF1.
"We had never heard of the condition like most people, we immediately Googled NF and were met with the shock and sadness after reading of many families who deal with the impact of Neurofibromatosis".
After the initial, confronting news, we started the process to understand the disease and book the multitude of appointments - Jack was off to see a Paediatrician familiar with NF, Ophthalmologist, Neurologist and continue to see his Orthopaedic Surgeon and Orthotist as we prepared for surgery once Jack was old enough.
As soon as Jack was old enough to stand and began to walk he required an AFO (Ankle Foot Orthotic) to support his tibia – at this stage Jack had a 65 degree bend in his leg and his bone was weak. We had one task – to ensure he did not fracture his leg as this would have resulted in surgery much earlier than expected, his body needed to be bigger to support the procedure.
Jack continued to grow into a happy boy with a great sense of humour and certain charm. He started Day Care and providing he wore his AFO, although not quite as fast and confident as the other children, was able to join in with most activities.
By the time Jack was almost 3 years of age, in between COVID-19 Lockdowns in Melbourne, our Surgeon felt it was time to operate and correct Jack’s tibia. His leg now had an 85 degree bow and if the bone fractured it would not heal.
In May 2020, Jack had surgery. His lower leg cut, a titanium rod inserted along with wires, plates and screws and a large bone graph taken from his pelvis to assist the weak bone to strengthen and fuse.
The recovery was long; following almost a week in hospital with his leg iced to reduce swelling and on strong pain relief, Jack spent 12 weeks in a full-length cast.
Since the initial procedure Jack has had a further 2 surgeries. The last, in March 2022, was to replace the metal rod as he had outgrown the original, smaller rod. All signs indicate the procedures have been successful and as of late 2022, Jack is able to walk without an AFO only requires a small orthotic to align his ankle. Jack continues to have regular Physiotherapy and we try and get him in the pool once or twice a week to help with recovery.
Whilst the major focus has been on Jack’s leg, there are a lot of other appointments and things to monitor and stay on top of. Recently, Jack has experienced some challenges with eyesight which led to his first MRI – moving forward we expect Jack will need to have regular MRIs every six months.
Regardless of the challenges Jack has experienced, he is a very happy and ‘typical’ busy 5-year-old boy and is looking forward to starting Primary School in 2023.
We are incredibly fortunate to live in a country like Australia and have access to some of the best medical care in the world.
We feel incredibly fortunate to live in a country like Australia and have access to some of the best medical care in the world. We cannot thank the group of medical professionals enough, including the NF Clinic funded by the Children's Tumour Foundation at the RCH in Melbourne, plus our friends and family who provided support throughout Jack’s surgery.
"When our son Jack was diagnosed with NF1 we were not familiar with the condition and shocked to learn that 1 in 2,500 births are affected by the disease - making it one of the most common genetic conditions. We want to help bring NF out of the shadows because more awareness and vital funds are required to help treat and ultimately find a cure for Neurofibromatosis".