Friday, 29 May 2009

N is for Neurofibromatosis

Another confession . I hate talking about it.

May is International Neurofibromatosis awareness month .I have rarely mentioned it on my blog that I have NF1(much less in real life). It affects about 1 in 3000. It is more common than CF but I know many would never have heard of NF1 or 2. Yes, neuro f.ckity fibromatosis it is a hard word to say and it's even harder living with it.

Twenty years ago this month I discovered it quite by accident , though the signs and features had been there since my infancy.

In May 1989, I found a newsletter from the NFAA - (Neurofibromatosis Association of Australia) on my Aunt's table .I was visiting and as she was busy with her 3 toddlers, my then small cousins, I started to read it. My toddler cousin had not long had an optic glioma removed (common NF1 type tumour on optic nerve ~ removed via brain surgery in 1988/9).

I knew straight away NF1 was what I had ...had since birth. I cried for days , alone and despairing.I was so shocked. I almost lost the plot.

Despite being a registered RN nurse I didn't know much about it. I think the medical profession was largely undereducated too or rather they never mentioned it to most of the 'family' the implications of having NF1 signs & clinical features.

No doctors had ever mentioned it ~ though I had numerous and very large cafe au lait spots (milky coffee coloured / 'dirty' marks) plus other definite signs. After, I calmed down I went to see a neurologist, a geneticist and other doctors. It was more of a case of wait and see...then manage the symptoms. I've seen a few Drs over the years.

NF is a genetic disorder, 50 % dominant inheritance which means pretty much 1 in 2 chance if you have an affected parent. It can also be a new mutation in about half the cases...not quite a freak event but you know what I mean.

The family history started to fall into place.My grandfather, mum, aunt, 2 uncles (I deceased @ 31), my sister, 2 cousins one of my sons and my cousin's daughter (2). My grandfather didn't have much contact with his extended family after he got married but I suspect they carry this too from a few things that were mentioned in hindsight.

I suffered a fair amount of 'teasing' at school because of my many 'birthmarks'. Mild bullying and social 'exclusion' but it wasn't too much to deal with. Just enough to bring misery, luckily I always had a few good friends to make things okay.I am /was so thankful for them. I loved books and reading too so the library was my friend some days.

We [my affected family members] all live relatively normal lives though we have almost all had various 'surgery' for removal various tumours. Now, I have a large one in my left thigh that causes extreme pain if pressure is applied (which wriggly little boys do often climbing onto my lap) and other sensations -tingling/pulling/tightness.

When I wean my sons I'll go see a surgeon maybe ! They say they leave them alone unless they cause pressure/pain or other damage by structure /organ or nerve compression .

I have hundreds of small nodules/skin tumours/ ugly bumps & soft lumps and freckling (skin pigmentation). My body is hideous to me but clothes cover up most things , thank 'God' ! I have several small soft lumps on my face but nothing too hideous or noticeable ...yet. Click here to see a picture of elderly woman's back severe NF 'skin'.

There is a huge range of severity and manifestations even within the one family and it varies from individual to individual. (They call it variable expressivity).

I joined the NFAA years ago for a few years .One year I didn't renew my subscription .I put it off because the newsletters were too depressing and scary. I couldn't read them anymore.( I still haven't re joined.)

Still , it gives me a spirit of darkness and has been upsetting me more lately. Unsettling and freaking me out.I won't describe it as being depressed, but my mood lately has been bleaker and it scares me.
There I said it...
Neurofibromatosis awareness month is almost over but the awareness that I have to live with this sh.t is with me everyday.
That my young son has to face this life long 'demon' too gives me a lot of grief. We keep a close watch on him .He is being followed up closely by the Children's hospital clinics. There is no cure ...yet ! Management is a program of treatment by a team of specialists to manage symptoms or complications as and if they arise ... if .
My twin sons are also participating in a 7 yr study about cognitive development in NF1.

Facts & Stats about NF1.NF is not a rare disorder, it is the most common neurological disorder caused by a single gene. Find out about the facts and stats for NF here.
It is (was) Ehlers Danlos awareness month too Veronica knows all about this.

Like Veronica ...the main reason I wrote this post was not to 'whinge' but that if I could bring awareness to one person /family and help them in some way then it was worth baring all.
I rarely talk about NF, even within my extended family, so believe me when I say how hard this was to do.

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