Jack was born with a bowed leg. Initially we thought this was a result of how we was positioned in utero, as he was also born in the breach position.
This has now been diagnosed as Tibial Dysplasia; a rare condition (1 in 150,000) and is also a symptom of NF1.
Jack is now wearing an AFO (Ankle Foot Orthotic) to support his leg and prevent fracture until his first surgery which is planned for late 2020 - once Jack has turned three.
Jack’s Tibia will be cut in two places and a titanium rod will be inserted in an attempt to straighten and strengthen the bone."
Jack will face further surgeries in the future to lengthen his leg and to change the rod as he grows.
Until the diagnosis, we had never heard of Neurofibromatosis as Jack’s case is a spontaneous mutation.
We were very surprised to discover the condition is one of the more common genetic defects, which impacts 1 in every 2,500 births.
When Jack was diagnosed our world changed immediately.
As parents, it’s horrible feeling a sense of hopelessness against a disease that has many symptoms that can arise at any time.
We do feel fortunate that Jack is not currently displaying any other characteristics and we are well supported with a great team from the Royal Children’s Hospital in Melbourne.
It gives us comfort that Jack will be in the best hands as challenges arise in the future. He is currently seeing his Paediatrician, Orthopaedic Surgeon, Neurologist and Ophthalmologist every 6-12 months.
For Jack, having a bowed leg and wearing a ‘brace’ every day is his normal.
He only started wearing shoes once he was fitted for his AFO, so to him, putting your slippers or shoes on also involves fitting his AFO.
Jack’s condition does not impact him too much at his age; however, as he grows, we are noticing his peers are now running, jumping and climbing, which Jack has difficulty with. He continues to have difficulty walking due to his leg and does fall and trip a lot. But, he gives everything a go and is now starting to ride a scooter and use his balance bike which is great to see.
As a family, we are still grappling with Jack’s prognosis of NF1, with the greatest challenge being the unknown that lies ahead. Our little ‘Jack Jack’ is a funny little boy who’s cheeky, good humoured and extremely determined. Qualities we are sure will serve him well facing NF1. Our immediate focus is getting Jack through his upcoming surgery and supporting him through his recovery.
Jack and his big sister Edie support each other so much, they are just beautiful together.