More than just birthmarks: Living with neurofibromatosis – RACGP

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.

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