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Here are some suggested organisations that offer expert advice on SN.

neurofibromatosis type 1

(11 Posts)
mighty43 Mon 17-Oct-11 14:34:31

Does anyone have any experience of this? dd has just been diagnosed, she is very mildly affected but I'm struggling to know how to deal with it. Thanks in advance

2011RWC Tue 18-Oct-11 00:24:35

Sorry I've no experience of this condition but I came across this information sheet on the Genetic Alliance site and thought it might be of interest - it gives details of an associated charity at the end which might be able to provide support and put you in touch with other families similarily affected.

ApocalypseCheeseToastie Tue 18-Oct-11 01:06:53

My cousin has it, he has problem with muscle tone, some learning difficulties and speech problems but is doing ok. He's 27 now, it varies massively tho, his mum has it too and she has the groeths but no ld's. He only has the coffee marks

dolfrog Tue 18-Oct-11 01:08:21

There seems to be quite a few variations, you could have a look at the Wikipedia Neurofibromatosis type I Article

indiastar Tue 18-Oct-11 12:05:28

We are waiting to see if ds has NF1. Had the blood tests a couple of months ago, but are still waiting for the results.

To be honest, I am trying not to think too much about it at the moment until the results are in. How does it affect your dd?

Etherion Tue 18-Oct-11 12:25:04

Like ApocalyspeCheeseToastie said NF is a condition that can affect each person quite differently, with more than half being very mildly affected. Some people just have the birthmarks.
A good source of information is on the UK NF website and on the "supporting you" tab there is a phone number for speaking to a specialist advisor who can help with any queries.

mighty43 Tue 18-Oct-11 13:26:05

Thanks everyone.
Indiastar, my dd is hardly affected by it at all at the moment and she doesn't even know she has it - she just thinks that she has some unusual birthmarks that doctors find very interesting. The problem is that it is so variable and so unpredictable I'm finding it hard to know what to do for her. Every time she finds something difficult at school or seems to be having lots of tantrums I start wondering is this "normal" or is it related to the condition. It seems strange that so few people have heard of NF or know anyone who has it, given that it's a relatively common genetic problem.
Hope your ds is OK.

indiastar Tue 18-Oct-11 13:39:47

mighty43 - my ds was diagnosed with ADHD and the Dr noticed that he had a lot of 'cafe au lait' marks on his body, which is why he is being tested for NF1. He is also dyslexic and has sensory issues too. I had never heard of the condition before and if he does have it, I am hoping that it is mild too. And yes, every time he has a meltdown, does something strange I used to wonder if it was due to the ADHD etc. Now, I don't bother and just accept him for who he is - if that makes sense?
Is anyone else in your family being tested for it?
I hope your dd is ok too!

ApocalypseCheeseToastie Tue 18-Oct-11 13:59:30

Huge spectrum. In my cousins case they were told he wouldnt live, then that he would never walk, talk, eat, sit up etc. He does have some skeletal problems and the cafe au lait marks plus he dribbles due to poor tone. But he's happy enough despite his ld's, he has a very active social life. He still lives with his parents and has only been able to get voluntary work.

His mum tho wasn't diagnosed until her son was, she is absolutely covered in small growths / tumours, and has large hands/ feet plus the cafe au lait marks. She also has spinal arthritis. She's fine, other than being in complete denial about her condition and refusing to get her growths looked at, they could be removed which would improve her confidence, she stopped bothering with my cousin seeing his consultant when he was around four which is utter madness as theyre both at increased risk of cancer.

No advice really, except try not to worry and keep up with her appointments.

jippa Sun 30-Sep-12 22:43:26

mighty43 - I have just searched on here in the hope of some advice my 6 year old has just been diagnosed and as with you in 2011 she only knows that her birthmark is interesting to the doctors and she had to have it pictured at the hospital. She complains of headaches and I'm just getting a bit paranoid about everything that is going on.
Would really like to hear about any resources there are or what I should be asking for.

Theonlyoneiknow Wed 27-Mar-13 15:46:25

Just resurrecting this thread as myself and my baby are awaiting confirmation of our diagnosis. It's a very scary time. Why haven't I heard of this if it's the most common genetic disorder? help! Xx

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