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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Secret Mom Thoughts said...

I had never heard of this disease. Thanks for sharing.

Melody said...

Thanks for sharing all of this with us Trish. I didn't know there was such a disease, so thanks for opening my eyes.

Dina said...

I think you were very brave to write that.

I'm sorry for all you've had to go through.

I learned a lot about NF because I wrote a novel about it a few years ago... If you're interested, you can just google "Thirty Cats" and "Dina". I wrote it to help raise awareness for NF. But I don't think I've actually helped much because not many people bought the book. I had it online for awhile, but most people who read it actually had NF and already knew about it.

I don't think it's a very depressing book. It's about a teenager who has a mild case, but her father has a much more severe case. She's very self-conscious. The whole book is her trying to come to terms with everything.

leany17 (Leanne) said...

Hi, thanks for sharing. I also have NF and rarely talk about to anyone,, though it is really noticeable. I am covered in varying sized lumps.
It not that I don't want to make it known, its just depressing when I think about it. I have two sons, i have passed this on to, but I was the only one of six kids in my family to have it. Spontaneous they call it.
I have found friendship with others online who have this condition rather than seek out others in my area as I can cope better with it then.
Hugs from Leanne

Alison said...

Knowledge is power, Trish. Thank you so much for sharing your power with us!

Veronica said...

Thankyou for finding the courage to talk about it. I had never heard of it either.

It's funny, I am able to talk about EDS on my blog, but talking about it in person to anyone other than Mum leaves me a bit cold. Medical professionals need more educating about apparently 'rare' things (like EDS and NF1) that aren't actually rare.


Mum-me said...

No I had never heard of it until now. Thanks for sharing your thoughts, and I hope you can get some relief from the lump on your thigh.

Blossom said...

how brave of you to write all that.hugs.
Not a pleasant thing to deal with.
lots of gentle hugs

•´.¸¸.•¨¯`♥.Trish.♥´¯¨•.¸¸.´• said...

@Secret Mom - lots of people have never heard of it - I guess partly because we ourselves don't want to talk about it.

@Melody - thanks for taking the time to read it.

@Dina - I will check it out I am interested in your novel. Thanks for sharing this too.I have been coming to terms with it for a long time too.

@Leanne - thank you for commenting and I am glad I am not the only one who feels 'depressed' about NF and rarely talks about having NF1. Strangely I am the same's easier to (cope with)talk to people online than in real life.
I know what you mean about passing it on too (hugs).

@Alison - thank you , yes knowledge is power !

@Veronica - I know what you mean about talking about talking about 'IT'. I hope some day it is easier for us all ... and that Drs get a better understanding of our disorders.

@Mum me - thank you - most of the time it doesn't cause any discomfort but I very careful about making sure they don't put pressure on it.

Blossom - thank you for your kind words.

Anonymous said...

This is a new disease to me. I wish you all the best and send you much love and support. xxx

Natalie said...

SMOOOOOOCH to you for courage. Well done, Trish, that was really very informative.
I admire you very much.x

Lilly said...

Thanks for letting us know Trish. And yu may find lots more people come forward whom you can share this with too. You are beautiful my friend in any package. Never, ever lose sight of that. I ahve thought it from the first time I cam to your blog. You are strong and a gorgeous woman. Love you and this was a brilliant post!!

jannifergrier said...

I found your blog on google alerts and wanted to tell you thank you for sharing your story. My almost 4 year old son has been diagnosed (also spontaneous) and I am trying to connect to others and learn as much as I can to help cope and hopefully help him as much as I can. Your boys are cuties! Thanks.

Jayne said...

It was called Von Recklinghaus Disease back in my FIL's day when he was diagnosed and in the late 70's when The Spouse had his first lumps removed from his leg.

Over Yonder said...

Thank you for sharing all of that. I have never heard of it. I love your blog btw. :)

magikquilter said...

Thanks so much for sharing this with us, this disease has touched our family too.
Kisses and hugs xox

Louisa said...

Oh Trish, that is full on. Thanks so much for sharing here.

M+B said...

A very courageous post, Trish. Thans so much for sharing xoxox

h&b said...

Ok, so I googled your blog for NF, and now I am more informed. Am off now to read your links.

Sounds awful, and I can see why you'd get into a funk every now & again, or often..

Thanks for sharing xx

Anonymous said...

Hi, My family also has NF. we just found out today that my granddaughter has 2 tumors in her brain called bilateral optic tumors. Do you know anything about this and how to deal with these. She's only 2 yrs old. I'd appreciate any info. my e mail is Thanks, Denise

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