Friday, 19 November 2010


What a mouthful, I had never heard this word until 18 months ago, but now it is part of my life 24 hours a day.

I have never spoken about my daughters genetic disorder in my blog, but I just feel the time is right to do so, to maybe help others in the same situation, it is always good to hear about someone who is going through the same experience as you.

Well where do I start.

Never in a million years did I think there was anything wrong with my daughter, she was a terrible sleeper, incredibly clingy and adorable. Then one day I just asked a friend of mine who is a doctor to look at my daughters birth marks, as my other 2 had molluscum and she was just checking on that. Ahhh she says these are cafe au laits, what a lovely name for a birth mark, what she didn't tell me, probably a bit afraid of doing so. Is if you google cafe au laits you world falls apart. I still remember that evening looking at the computer screen in floods of tears, saying no this just cant be right.

More than 5 cafe au laits is a pretty definite sign that your child has neurofibromatosis, a genetic disorder, which unfortunately when googled brings up very scary images. So there I was devastated, but then I decided this can not be the case, so booked to see my GP deciding she just cant have NF. When they brought in a support worker into the consultation room I realised that she most probably did have it.

The next few hours were pretty damn awful, I will never forget how I felt and a horrible horrible (in nice words) man made things much worse. Picture this, a mum with 1 year old and 3 year old in floods of tears is approached by an old man who attacks her for getting her kids out of the wrong side of the car on a dead end street and calls me an irresponsible bad mother, I laughed about it afterwards, but he did get a huge mouthful from me at the time.

Anyway living with NF, she has had fantastic care. She is looked after by the geneticist at Manchester Children's Hospital who is incredibly knowledgeable on the subject of NF, a consultant paediatrician and the eye hospital. If anyone wants any info on these people just contact me.

But living with NF can be scary, we are flying to Manchester next week to visit the eye hospital for her regular check to see if she does not have any tumours behind her eyes, I am sure she won't, but it is still upsetting and she hates going, she can remember last time with all the tests. You always wonder if she is reaching her development targets as 60% of kids with NF have learning difficulties, but so far so good.

I think the scariest thing about NF is you will never know how bad it is going to be or how good, but my hubbie's attitude and mine, is if everyone had more than the most minor symptoms of NF everyone would have heard about it. We will ensure that she has the confidence and self esteem to deal with any of the symptoms she might get in later years. She will know she is beautiful even with the birth marks and fibromas, as beauty is from within and she is one beautiful little girl and we love her with all our hearts.


1 comment:

  1. Hi, have just read your comments on Neurofibromatosis and am so pleased to read how happy you are with the care at Manchester - my daughter has just been referred to the geneticist there. We were referred to Alder Hey nearly a year ago as she has a bad leg problem and I'm sure when they finally get round to seeing us again they'll be great but in the meantime I feel abandoned. Just wanted to say I'm glad to find I'm not alone and I'm also lucky enough to have a beautiful,amazing daughter. Vicci x