Stuart and William are determined to live a normal life with Nurofirbromatosis.

Stuart tells the incredible story of his and his sons fight to live a normal life despite having the genetic condition Neurofibromatosis Type 1.

'Neurofibromatosis (NF) is probably not a word you’re familiar with' Stuart begins to tell us. 'I certainly had never heard it until the back end of 2019 when my wife came home from a parenting group she’d been going to saying that she thinks it might be something our 8 year old son William has.'

Very briefly Neurofibromatosis is a genetic disorder which causes tumours to grow on nerve tissue. The tumours (which are usually benign) can develop anywhere in the nervous system including the brain, spinal cord an on nerve endings. There are different types of NF but for Stuart and William's journey we will be focusing on Neurofibromatosis Type 1 (NF1) which affects around 1 in 3000 people.

'As I mentioned before, this wasn’t something we had heard of until my wife Gemma was at a parenting group which we had been referred to by the family support group Malachi following struggles we had been having with William’s behaviour.' Stuart continues to tell us. 'We had been thinking that he may be on the autistic spectrum and/or has ADHD. One week during a discussion at the group, one of the other parents mentioned that a health care professional she had been seeing with her child had shown some concern at the amount of cafe au lait spots (light brown birth marks on the skin) that he had as it can be a marker for the genetic disorder Neurofibromatosis. This got her attention because William had been born with quite a lot of cafe au lait spots, as had I, but we just thought they were birth marks and thought nothing of it.'

Cafe au lait spots
Cafe au lait spots

Stuart continues to tell OSN his story. 'Gemma was on google as soon as she was home from the group reading up on the genetic disorder she had just been told about. There were various symptoms which described William including 6 or more cafe au lait spots, bone deformity which tends to be scoliosis (curvature of the spine) or bow legs but Williams is pectus excavatum which means he has a sunken breast bone, an enlarged head- he’s now been diagnosed with macrocephaly, ASD and ADHD which was the reason Gemma was at the group in the first place. After reading the list of symptoms we were pretty sure that William had NF. We got him booked in with a GP but as concerned as I was for our sons health all the while I was thinking about how this was a genetic disorder which I also have symptoms of. Do I have it too!?'

Based on William's symptoms the GP referred him onto a paediatrician. 'We all went along to the appointment where the doctor checked William over and we discussed his symptoms.' Stuart said. 'By the end of the appointment the paediatrician said he was 95% sure that William has NF1 and with me having symptoms too he was pretty certain that he’d inherited it from me. I didn’t really know how to feel but I know I was feeling guilty; I’ve been through a lot in my life and now at the age of 32 I was being told I probably had a genetic disorder and that I had passed it onto our son.'

The family were referred on to a geneticist who took blood samples from Stuart and a saliva sample from William to send to the lab for testing. The results took two months to come back but sure enough it was confirmed that they both have Neurofibromatosis type 1. 'What they couldn't determine from the test was if I had inherited it from one of my parents or if it was a spontaneous mutation.' Stuart explained. 'What I do know is that women under the age of 50 with NF have an increased risk of developing breast cancer and because of this they should start their breast cancer screening at the age of 40; my mum passed away when she was only 43 after her second battle with breast cancer. I will never know for sure if my mum had NF or if it was the reason she had cancer but it weighs heavy on my mind at times and is one of the reasons I want to raise awareness of neurofibromatosis.'

'My diagnosis did answer some questions about me.' Stuart continued to say. 'The NF is the likely reason I suffer with awful pain in my shoulder and neck; I am awaiting an appointment for an MRI to see if I have a tumour causing the issues that have been ongoing for a few years now. NF is also the likely reason to be the cause of struggling with my mental health. Psychiatric disorders are more frequent in people with NF1; these include Dysthymia, depressive mood, anxiety and personality disorders.'

Stuart finished by telling OSN 'Both William and I are now awaiting various appointments to check us over but other than that as long as we have no complications, we will both be seen by our doctors annually to keep an eye on our health and as long as we keep on with our check-ups there’s no reason we cant live a relatively normal life.'

What a fantastic way to look at life! Stuart and William will be trying their best to lead a normal life despite the challenges they face. OSN would like to thank Stuart for telling us his story and helping raise awareness of this condition in the hope that other people will take comfort from it.

You can read more about the different types of neurofibromatosis at