My name is Karla and I have 3 children; Chantelle (9), Owen (7) and Xavier (4)
I was diagnosed with Neurofibromatosis at 4 years old, after my little sister received the diagnosis. The only sign of the condition I had were cafe au lait spots.
Fast forward to 2008 when I had my daughter, Chantelle. She was born with a discoloration on her left arm. She was about 3 days old and I suspected NF as well. After speaking to a GP, he agreed with my suspicions and sent us to a neurologist who confirmed the diagnosis. He also diagnosed a plexiform neurofibroma in her left arm. This is a type of tumour which runs deep and takes over several nerves. Since then, it has also been discovered she has scoliosis, one leg is longer than the other and another plexiform neurofibroma in her chest. Chantelle may require surgery on the growth plate in one of her legs to help prevent further curving of her spine. She has mild learning difficulties and requires regular MRIs to check her tumours.
My son Owen was born in 2010, and thankfully does not have NF.
Xavier came along in 2013, and what a battle it was! He always had an odd discolouration on his abdomen area. We had repeatedly been told this is normal and not NF related. He had a few cafe au laits, but never enough to confirm a diagnosis. He was slow to reach his mile stones and for his first year spent most of the time crying. He started walking just before turning 2 and within 6 months we noticed things were very wrong. He lost confidence in his abilitites and stopped doing tasks he previously did well. That is when we contacted the NF clinic who were concerned. We were seen there within a couple of weeks, and had an MRI very soon after. The MRI found a very large plexiform neurofibroma in his spinal/hip region going down his left leg impacting his strength and control of his left leg. He can’t run and falls often. He has a higher than average pain threshold, which means if he is injured it is harder to know what happened and when. He also has a small growth on the hypothalamus region of his brain. Xavier has limited speech, and many developmental delays believed to be part of his NF. Xavier also requires regular MRIs to ensure his tumours are stable and not causing any further issues.
I run the NF Support Group in Geelong and have taken on the role of Race Director for the Cupid’s Undie Run Geelong 2018. This will be the first year that Cupid’s is coming to Geelong and I am so excited to help raise some much needed awareness for Neurofibromatosis in my local area. It’s a big ask to get people to strip down to their undies, but remember it’s an even bigger ask for those affected by Neurofibromatosis! It’s about being brave and doing something different for a good cause.