Neurofibromatosis and Me

 

One thing that people don’t know really about me is that I have Neurofibromatosis. I use the verb have, rather than ‘suffer from’ because I have been quite lucky in life that it has caused very few problems. It is a little known disorder, although more than 1 in 4000 kids are born with it (my daughter included). In short it causes fibrous tissues to grow on nerves. They can be deep in the body, or also near the surface. Thankfully I have the least aggressive form of it, and a very low grade form of it. There are also visual clues to people who have it – such as large discolourations on their bodies; these are known as café au lait spots, and dark circles under the eyes that can look like I have a black eye if I haven’t had enough sleep.

I’ve met only a handful of other people in my life who have had it, and sadly for most of them they are in a much worse off way than I am with the symptoms of this condition.

I was diagnosed with the condition when I was quite young, so I have pretty much known about it for my entire life. Aspects of it I used to be quite self-conscious of. I have several café au lait spots on my chest, that as I was younger I disliked very much, and went as far to wear a shirt every time I went in the pool even indoors.

I developed my first tumor before I was even thirteen. I remember small moments of this, as it had grown on the inner part of my bicep on my right arm (I have not so fond memories of knocking it and the pain being unbearable). I persevered through the pain and discomfort of it until I was about 15 or 16 when it started to grow. I recall having my appts with the Dr – and moments in the hospital before and after my surgery.

Thankfully I was symptomatic free until a few years ago when I had another tumor grow on my left ribs. For a couple of weeks I thought I just had bad indigestion, but one day on close inspection I realised that it was indeed a tumor. As it grew, it started to get extremely painful, and I was quite dependent on (then over the counter at a chemist) codeine painkillers. Since then codeine is now prescription only, which is an utterly ridiculous law. Having been through a very short moment of being in tremendous amounts of pain, I sympathise with those who live with this type of pain for years, or even an entire lifetime.

I went through an unnecessary procedure (fun fact – X-ray’s do not show fibroma tissues – if you think you might have a tumor – please PLEASE ask for an ultrasound. I then had my pre meeting with my surgeon, had the surgery, and was pain free within days (I then stopped taking all those painkillers straight away, and can honestly say the detox from this was horrible – I was in bed for almost two days!)

Both were removed successfully, and both were, as expected, cancer free.

Recently the condition has been made aware on a few different TV shows (I’m fairly positive House, and Grey’s Anatomy have done episodes on it, but one of the more positive ones was in Bones, where it was brought to the surface to make people aware of it. Also the always brilliant Gillian Anderson is a spokesperson for it in the United States.

I’m lucky in regards to the severity of my condition. I’ve seen others who have it much worse – for those of you who follow me, and read my posts, you may not have even heard of this condition until now – but if I can get the word out about it, and let one more person know about it – then I have done my part in being one of those suffering from it. I now also face to process of both my own life with it, but also my daughters.

 

3 Replies to “Neurofibromatosis and Me”

  1. I’m not really that familiar with NF, but there’s some kind of link between NF and autism, isn’t there? A friend’s daughter who was suspected autistic (but didn’t quite fit the diagnosis) was later diagnosed with NF1, and I know two young boys who are diagnosed with both conditions. I’m guessing your son will have been checked for NF though..?

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    1. We haven’t had that idea put to us through any of the specialists yet. My daughter quite clearly had NF from birth, just by the physical characteristics – but it is definitely something we will check out in the coming months as we go forward. Thanks for the advice and feedback. Much appreciated!

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      1. My friend’s daughter who wasn’t diagnosed until aged 15 (despite going to several different doctors from an early age due to severe delays in speech as well as other developmental differences) only had a couple of small and not very obvious cafe au lait marks. The dr who finally spotted them and made the connection to NF was surprised that previous dr:s had missed it, but it could be because they went in with a preconception that she was probably autistic. If she had lived in the UK or US she’d probably recieved an autism diagnosis as well, I suspect. But in Sweden (where she lives), they’re very restrictive with multiple diagnosis, and her autistic traits are seen as part of her NF, so they see no need to add an autism diagnosis on top.
        Best of luck with everything!

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