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 ...you 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 beautiful..now 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 ...now 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 ...
rrsahm
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14 comments :

peskypixies said...

you are a brave lady my friend.

and beautiful inside and out.

gentle hugs

Naturally Carol said...

Thanks Trish for becoming my newest follower/friend! Please feel free to drop by at any time, I hope you enjoy the site. I have just read your post and have been healed of kidney disease among other things, by Jesus Christ. Keep your eyes on Him, not the disease, ask Him for an answer and go from there. I will pray for you too, I know He loves you and your lovely family.

Crazed Nitwit said...

You are NOT whining in anyway! Chronic disorders/diseases are very difficult to manage psychologically and physically. I wish this was easier for you. Most women have image issues with 'normal' body image and aging....but you, my friend, well I think you're amazing.

I know a few things about genetic disorders etc. Major suckage.

I love you no matter how you look, what physical disorders you have, I love you. Just you just the ay you are.

Huge (yet soft) hugs to you!!!!!!!

Super Sarah said...

I think you are brilliant for posting this and sad that you were teased as a child and now live with the fear of the what the future holds. I am trying very hard to teach my girls that beauty lies within.

Cate said...

No body could ever say that was whinging! A truely informative post.
Is this what your 'sign' says?? xxx

Glowless said...

Not too long a post at all!

I admire you so much for speaking up about this Trish, you are truly courageous.

I can totally understand not wanting to renew your membership, I think the newsletters would get me down too.

Best of luck with it all, I look forward to hearing how it all goes at the scan.

Glowless x

phonakins said...

I think i word with a student once who had learning difficulties mostly because she FATIGUED so quickly :\

allison tait said...

If nothing else, you have raised awareness today. I had never heard of Neurofibromatosis before reading this post. Thank you for sharing. It always amazes me, the everyday courage of the people around us. Stay strong.

Rachel said...

Thank you for your visit and comment today... I also had never heard of Neurofibromatosis before today so thank you for sharing... you succeed in the fact you just brought awareness to at lest two people .... and who knows how many more.... have a beautiful weekend

Maxabella said...

I hope that felt a bit better to get it out? It is never whinging or whining when we share such important parts of ourselves, Trish. It is admirable and necessary.

I had heard of Neurofibromatosis before as a friend at uni had a brother with it. He was severely visibly affected and sadly it meant his confidence was the biggest issue for him. It bothered me then and it bothers me now that he had to feel that way. I hope you find some peace, Trish. You are a beautiful person. x

Joni Llanora said...

Your courage amidst life challenges is truly inspiring. I wish for a world with no disease, no disorder, no defects. And no cruel & judgmental people.

Wanderlust said...

Trish, I think you show strength and courage by talking openly about something that is both difficult and frightening for you.

I have something called Klippel-Trenauny Syndrome and one of the symptoms is that I have a large port-wine birthmark on one leg. I was very self-conscious about it too, when I was younger, but now it doesn't really phase me.

I hope you reach a point where you see this disorder as a challenge to be managed, as opposed to a 'demon'. Perhaps the more you learn about it, the less scary it will seem. But I think by writing about it you are helping to educate others who may be suffering from it as well or who, like me, had simply never heard of it.

Louisa said...

Just sending love and hugs xxx

info said...

Hi there. I am the NFAA Support person now and read with interest your comment on our newsletters. I dont know which years you were a member, and am so sorry they made you feel low. I have been here since Nov 2005 so if I'm responsible, I apologise twice. I hope they are not depressing now.
best regards
Susn

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