Ds is 6, and has nf1. After 3 negative genetic tests for nf1 we recieved a diagnosis for nf1 anyway, as he developed lumps in his neck which his geneticist examined and determined to be neurofibromas. He has now developed more on that side, some on the other side (smaller ones) and yesterday I discovered some on his scalp. He sometimes say they hurt when I touch them, which I'm sure is not really entirely normal? He's also complaining of headaches quite often and of leg pain. I've left a message for the nf specialist nurse to call me, but haven't had a call yet, so I'm really just looking for support / experience from anyone with nf1 or a child with nf1. Really I want to see a geneticist, but he was passed over to his current geneticist because he was a bit of a mystery (his blood tests presented quite oddly and there was talk of him perhaps having a uniqueness that would end up having journal articles written about him) and she's the expert in nf1 in the uk but she's based in Manchester I believe, while we are in Newcastle, so he now has no geneticist in this city, and I have no indication that his geneticist will be doing another clinic here any time soon.
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Children's health
Ds was tested after about 4 years of being treat with watchful waiting with a probable diagnosis of nf1 due to his numerous cafe au lait patches. It was a mutual decision with his geneticist based on me wanting an answer and her being pretty sure he had it but being frustrated at being unable to give a diagnosis as he only had one sign (the cafe au lait patches).
The neuro foundation has information including the list of signs used for diagnosis, they need two or more signs, one of which is 6 or more cafe au lait patches of over 5mm in children, or 15mm in adults.
Typically most neurofibromas are around pea sized and usually don't cause issues on their own. They can grow larger, and can cause indirect issues if they rub on clothes etc. But it's a very unpredictable condition, with identical twins (so identical mutations) able to present completely differently.
It may be worth checking out the neuro foundation for info, and they have a helpline that I've never used but may be helpful. If you have CAL and lumps, potentially you could be diagnosed, which would make diagnosing your child easier if it came to it. Nf1 is usually diagnosed by signs rather than genetic testing as testing can produce false negatives (like my ds... Thrice 
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I'm by no means an expert, in fact I'm feeling pretty lost and ill informed right now, but I'm always happy to chat, I felt very worried and alone when we were in the early stages of wondering with ds.
Which makes me think I should say, ds had an unrelated hospital admissions at just short of a year where the many CAL, that the hv had told me were just birth marks when I asked on a number of occasions why my child was growing dalmatian patches, drew interest from the Dr's and a referral to genetics. Ds had his first blood test at age 4. Until then they just did the usual checks that a diagnosed child has, just in case, and waited for more signs to develop, this is pretty usual procedure. I'm under the impression they don't suggest testing all that much, though that may have changed as the newer test (the one ds had 3 times) is more accurate than the old one that was used when he was a tiny tot.
How old is your ds?
Me - though my story is rather surprising
I 'self diagnosed' myself and DS only 18 months ago. In my own case it affects only my skin: freckles in "unusual places" cafe au lait marks a couple of raised lumps.
DS .... Well suffice to say it answers all the difficulties he has ever had!!!
I mentioned my concern to the paediatrician (DS also has epilepsy) she took one look at him one look at me and said, "Yes, I think you're probably right' Referred to genetic clinic and both given a clinical diagnosis. DS has yearly check ups and I have yearly breast screening
Certainly no expert but willing to share 'experience' stories etc
Btw DS is 18 and I'm 43
*GinAndSonic
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As I've mentioned previously my/my sons diagnosis only happened last year - but it explained every difficulty he has ever had. I also supported a child at school with ADHD alongside NF1 his behaviour fluctuated quite a lot. He did struggle socially at times, had issues with motor skills and was behind his peers with his work. Whether this was related to one or both of his conditions is anyone's guess **
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