Thursday, 18 November 2010

N is Neurofibromatosis

What ?

Yes, neuro f.ckity fi-bro-mat-o-sis it is a hard word to say; it's even harder living with it.

NF 1 isn't 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.

Everyday, I feel like I am dodging a bullet just never know which one going to get you. No exaggeration.

I rarely talk about NF, even within my extended family, so believe me when I say how hard this is to do. Lately, because of what my husband had to deal with his cancer I've been immensely anxious and terrified by unmentionable fears for both of us. Mind games I don't want to talk about.

I finally got the courage to ask my GP to refer me for a Brain MRI. It's booked for 2 weeks. I'm also having a few more tests for other concerns I have... I am so sad I can't talk to anyone.

Thursday 14 ...because I am superstitious about 13.
  1. I have rarely mentioned it on my blog that I have NF1(much less in real life, many friends would have no idea). It affects about 1 in 3000. It is more common than CF but I know many would never have heard of NF1 or 2. I discovered it quite by accident , though the features had been there since infancy. In 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 complex brain surgery in 1988/9).It left her blind in right eye & cosmetically affected. (She is now 25, a lovely young mum, still they use chemo to treat it.)
  2. 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. It was before Google and the Internet (showing my age) No mistake, I knew from what I'd read that it was a potentially horrible neurological disorder. 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 clinical features.
  3. The end of her 4th year medical student the other day hadn't heard of it.
    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.
  4. I've seen a few DRs over the years. I decided a long time ago to move on with things and not let NF1 defeat me. I made some appointments , got myself checked by a neurologist and broke the news to my boyfriend (my DH).He said he didn't care, he still loved me ...this I think was my greatest concern apart from the NF1.He told his mother, who at the time had her concerns I hadn't explained it fully to him. (Not that it was her business -really he was 22). Her neighbour a Paediatrician had given worst case scenario. I HAD...honestly told by BF (DH) everything.It didn't break us.We got engaged 2 months later and married 7 months later.
  5. 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 (K 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.
  6. I suffered a fair amount of 'bullying & teasing' at school because of my many dirty 'birthmarks'. Bullying and social 'exclusion' wasn't too much to deal with ..just enough to bring misery.
  7. We [my affected family members] all live relatively normal lives though we have almost all had various 'surgery' for removal various tumours.
    My Uncle K, had died in a nursing home at 31yrs of age (he was 1o yrs older than me). He had a benign [non cancerous] brain tumour but surgery had debilitated him and broken him. Surgery and complications from blocked brain shunts left him physically handicapped , ? incontinent , barely able to walk or talk or swallow properly. My elderly grandparents had no choice but to admit him to a nursing home.K died 3 wks later - l think it was a seizure not from the tumour .I didn't know it then but suddenly I knew K had NF1 most definitely (he had birthmarks too). I was in shock.
  8. I've had a large one in my left thigh(over 7yrs) It only causes pain if pressure is applied (which wriggly little boys do often climbing onto my lap) and other sensations -tingling/pulling/tightness.They say they leave them alone unless they cause pressure/pain or other damage by structure /organ or nerve compression.
  9. Nekkid (of course that isn't going to happen) ... it's no exaggeration when I report I have maybe thousands 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).
  10. I joined the NFAA years ago for a few years .Then I didn't renew my subscription because the newsletters were too depressing and scary. I couldn't read them anymore.( I still haven't re joined.).It still 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.
  11. There I said it...Neurofibromatosis that I have to live with this fear 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 has minor vision problems.He is being followed up by the Children's hospital clinics. The cosmetic things you learn to live with you can't hide them.I worry every day for my little boy.
  12. Some children have learning difficulties but most attend mainstream schooling with some therapy as required. I didn't have any learning difficulties I am not exaggerating but I was chosen for a gifted & talented program at school and I did manage well academically.
  13. If you saw me walking down the street you probably wouldn't know I had NF.My clothes hide me well.I don't leave home without them. Some others are less fortunate as they have severe facial disfigurement or other disfiguring tumours . 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 .
  14. I revised and pulled it out again wrote this post not to 'whinge' but because if I could bring awareness to one person /family and help them in some way then it was worth baring all.
Sorry if it was too long ...
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