More than just birthmarks: Living with neurofibromatosis

Before she had her children, Dr Caroline Phegan, like many of her peers, didn’t know much about the genetic condition known as neurofibromatosis, or NF.
 
‘In medical school, we learnt almost nothing about it,’ she told newsGP.
 
‘We were told that if you saw more than a certain number of café au lait patches [on the skin] at a certain age, you need to think about NF1, and that was it.’
 
However, as Dr Phegan and her husband were to learn after their children received their diagnoses, there is a lot more to know about NF than birthmarks – and while the journey has been difficult, she feels she has learnt a lot from it, as well.
 
‘It’s given me a far greater understanding of the complexity of multi-faceted disorders, and it’s deepened my empathy and understanding for families who have children with either achronic and/or genetic conditions they’re trying to deal with, and complex behavioural issues, special needs; it really is a difficult process,’ she said.
 
Dr Yemima Berman, a clinical geneticist who specialises in NF, explained the effects of the condition to newsGP.
 
‘NF describes a group of conditions that all have in common tumour predisposition, particularly affecting nerve cells,’ she said. ‘It means that tumours can potentially develop on any nerve in the body.
 
‘There are three particular sub-types, NF1, NF2 and Schwannomatosis. NF1 is by far the most common, affecting about one in two and a half thousand people, whereas Schwannomatosis and NF2 are much more rare, about ten-fold less common than NF1.’
 
According to Dr Berman, the prevalence of NF1 actually puts it almost on a par with conditions such as Duchenne muscular dystrophy and cystic fibrosis, even though it has far less recognition and awareness within the community.
 
NF1 is often identified by the presence of ‘coffee with milk’ or café au lait coloured birthmarks on the skin.
 
‘When you have more than six of the typical type with the smooth round border, that is often the first sign,’ Dr Berman explained.
 
However, NF1 can also present with emotional and behavioural issues as well as physical ones.
 
‘There’s a risk of specific learning difficulties and other issues affecting bones, growth, attention, a variety of different issues that can develop – and tumours in other areas that you wouldn’t expect when you are thinking of a nerve tumour predisposition,’ Dr Berman said.
 
Dr Phegan’s children were both diagnosed with NF1, but each child manifests the condition quite differently.
 
‘NF1 has what we call variable penetrance, which means that you can have two children with the same disorder with very different symptoms,’ Dr Phegan said.
 
As an example of this variability, Dr Phegan’s son James experiences a lack of impulse control, hyperactivity and difficulty concentrating, while her daughter Naomi has low muscle tone, speech delay and dyspraxia.
 
Because of these issues, both children required quite a high level of intervention from healthcare professionals from an early age.
 
‘Our children can have up to three sessions a week with allied health, either in school or after school,’ Dr Phegan said.
 
‘The struggle is that they often have difficulties at school, and then you are taking them out of classes to go to appointments to help them with school. But if you choose to do it after school, their entire after-school time is spent in appointments.
 
‘So that can be really hard and you’ve got to weigh up whether it’s worth it, sometimes. But they do need those interventions.’
 
A diagnosis of NF1 brings with it a lot of uncertainty for the future, because as people with the condition grow older, their risk of developing tumours increases.
 
‘Unfortunately the age at which we have our highest mortality in NF1 is actually in the mid-20s, which is really devastating,’ Dr Berman said.
 
For Dr Phegan, coming to terms with the diagnosis was difficult.
 
‘When you have a child, you wish the world for them; no one thinks their child is going to have a genetic disorder,’ she said.
 
‘The biggest thing is mourning the loss of what could have been for the future.’
 
However, the Phegans have also dealt with their children’s NF1 by celebrating their abilities – James loves sports, does well at school, and plays the piano, trumpet, violin and sings, and Naomi is very sociable and has a passion for art.
 
‘It’s changing that [grief] to positively celebrating what is,’ Dr Phegan said.
 
Another challenge the Phegans face is the lack of understanding of NF1 within the community.
 
‘This is a genetic disorder with multifaceted, far-reaching consequences and impacts on the day-to-day lives of these children and their parents, and that can be really under-acknowledged or unaccepted in the community,’ Dr Phegan said.
 
‘A lot of people outside of it think the families just need to toughen up – I don’t know how many times that’s been said to me: “You just need to parent your child better, discipline them better”.’
 
Dr Phegan would really like to see a greater understanding of NF among the community in general, and also among GPs.
 
‘The key is understanding and support for the parents,’ she said. ‘You’re not expected to know everything about everything in significant detail as a GP, but we need to know where to find the information if we don’t.
 
‘There are clinics you can refer the children to in most states, to get that input and assessment early. The Children’s Tumour Foundation website also has loads of information.’
 
However, Dr Phegan believes understanding of the condition has come a long way over the past decade, and she has great hope that it will develop further into the future.
 
‘It’s kind of like where autism was 20 or 30 years ago, people didn’t recognise that so well, and now there’s really good awareness of how it impacts people,’ she said. 

‘There is more to the condition than just skin marks.’

genetic conditions genetic disorders Neurofibromatosis NF1 NF2 Schwannomatosis