Thursday, 2 May 2013

N is for Neurofibromatosis

I have rarely mentioned on my blog that I have NF1(much less in real life). It affects about 1 in 3000. May is International Neurofibromatosis awareness month .
More people have NF than Cystic Fibrosis, Duchenne Muscular Dystrophy, Tay Sachs Disease, and Huntington’s Disease combined
I know many would have never heard of Neurofibromatosis , it is a hard word to say and it's even harder living with it. I hate talking about it.Twenty four years ago this month I discovered it , quite by accident , though the signs and features had been present since infancy.

In May 1989, I was visiting my Aunt, and my three cousins (all under 4yrs). I started to browse a newsletter I'd found on my Aunt's dining table, it was Neurofibromatosis Association of Australia (NFAA), - (now NF Australia).

My toddler cousin had recently had an optic glioma removed (common NF1 tumour found on the optic nerve ~ in 1988/9 removed via brain surgery treatment is different now).

Shell shocked. I knew straight away NF1 was what I had ...had since birth. At the time I was sharing a house with friends, I cried for days alone and terrified, dreams for my future disappearing.

Despite being a registered RN nurse I didn't know much about it. I think the medical profession was largely undereducated too as 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 or 'dirty' marks) plus other definite signs. After I calmed down I went to see a neurologist and a geneticist. It was more of a case of wait and see...then manage the symptoms. My boyfriend (husband of 23yrs) was 100% supportive when I told him.

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 fell into place, my grandfather, mum, aunt, 2 uncles (1 deceased @ 31), my sibling, 2 cousins ... one of my sons and my cousin's daughter.

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, thankfully I always had a few good friends to make things okay.

We [my affected family members] all live relatively normal lives though most of us have had 'surgery' for removal of tumours. I have a large neurofibroma in my left inner thigh that causes pain if pressure is applied and other sensations -tingling/pulling/tightness when exercising.

I'll have an appointment to see a surgeon next month. The consensus is to leave lumps alone unless they cause pressure/pain or other damage by structure /organ or nerve compression or malignancy .

I struggle with the cosmetic side of it because I have hundreds of small nodules/skin tumours/ ugly bumps & soft lumps and freckling (skin pigmentation). My body seems hideous to me; clothes cover up most of the ugly.There are people very significantly affected so I don't whinge !

I have small soft lumps on my face,  not noticeably outward . 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).

NF is difficult to diagnose and describe because of the wide spectrum of symptoms and problems it presents

I joined the NFAA , then one year because the newsletters were too depressing , I didn't renew my subscription.
I hadn't met anyone in real with it , despite it being quite prevalent. In a bizarre twist a friend, from my former playgroup who was diagnosed with breast cancer a month before I was, also has a son with NF1 too. His NF is a mutation. We discovered we had it in common too , when we met up during our chemo.

I still haven't re joined the association though a stranger at the Zoo (in March), recognised NF and boldly told me all about it, her identical twin daughters ' journey with NF and family camps which may benefit my son.

Thinking about the potential severity of NF gives me a spirit of darkness and can be very upsetting . Rattling my cage and freaking me out more for my little boy.

I feel so much guilt - There I said it...

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 by the Children's hospital clinics. There is no cure ...yet !

Neurofibromatosis awareness is about being aware of a change in symptoms.

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 have also been participating in a 7 yr study about cognitive development in NF1. Our participation concludes in July.

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.
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