Despite being diagnosed with neurofibromatosis type 1 at birth, I only learnt how to spell it when I was in my teens, so I’ll be using the common abbreviation NF1 throughout. (In fact, wordpress is still telling me I’m wrong…)
I’ve decided to blog about this because there’s a lot of misinformation around, and a lot of people don’t know very much, if anything, about it. Say NF to someone and they’ll typically either say ‘N what?’ or ‘oh, like the Elephant Man?: Joseph Merrick, nicknamed the Elephant Man by a showman, is sometimes held up as an example of someone with NF but there is no medical evidence for this. Someone who does have NF is Adam Pearson, an actor who works with Changing Faces to combat bullying and attitudes against deformity.
NF1 affects 1 in 3000 people, with 50% of those cases being spontaneous mutations and the rest being hereditary. My mum has it and was diagnosed when she was pregnant with me, and myself and one of my brothers inherited it. It can vary in severity massively, and some of the symptoms are listed here: https://www.nhs.uk/conditions/neurofibromatosis-type-1/
For me, I don’t think a lot of things that with hindsight were symptoms of NF1 because I’ve always been quite an academic child – not only did this mean that I could hide some things, it also meant that some issues weren’t seen as being that important because I was a high achiever in other areas. This is particularly true of the dyspraxia-like symptoms – and one of the reasons having dyspraxia named and not completely hidden in the last episode of Doctor Who was so good – I’ve never been able to master riding a bike either! Me being the last person in my year at primary school to be allowed to progress to a pen from a pencil is just one such example! I remember having speech therapy at primary school but apart from that, and occasional visits to the ophthalmologist I don’t remember much treatment, because in the past I wasn’t that affected.
There is a proposed link between NF1 and brain tumours, although they are usually benign rather than malignant. When I was in hospital I think my situation caused some confusion – whether the brain tumour is a result of the NF or unconnected to it isn’t really clear. It definitely shouldn’t be something that other people with NF worry about – it may not even be the cause in my case, and even if it is, it’s so rare, even for more complex or visible cases than mine.
Some websites you might want to look at if this interests you: