We are supporting the Children's Tumour Foundation of Australia after our second child, Jack, was diagnosed with Neurofibromatosis Type 1 (NF1) earlier this year.
Jack was born with a bowed leg which we initially thought was due to his position in utero as he was breached. This has now been diagnosed as Tibial Dysplasia; a rare condition (1 in 150,000) which is a symptom of NF1. Jack is now wearing a brace to support his leg and prevent fracture until his first surgery at age 3 which will be the first of many.
Until the diagnosis we had never heard of Neurofibromatosis as Jack’s condition is a spontaneous mutation which around 50% of cases are. We were very surprised to discover the condition is one of the more common genetic defects which impacts 1 in 3000 births. Currently there is no cure for this disease.
We feel fortunate that Jack is not currently displaying any other characteristics of the condition. We are well supported with a great team from the Royal Children’s Hospital which gives us comfort that Jack will be in the best hands as challenges arises in the future. As a sufferer of NF1 Jack will see a Neurologist and Ophthalmologist at least annually to monitor for tumours.
As parents, we are still grappling with Jack’s prognosis of NF1 and the greatest challenge is the unknown. Our little ‘Jack Jack’ is a funny little boy whose cheeky, good humoured and extremely determined; qualities, we are sure will serve him well facing NF1.
We are only just beginning this challenging journey and hope our involvement with this important cause will help raise awareness and well needed funds.