Anyone know anything about neurofibromatosis - I am absolutely terrified

[MsAnthropy]

Help! I am completely in a panic. My lovely, beautiful little boy is diagnosed with Aspergers, and I've recently been concerned because he is so short compared to the rest of the family. I saw a paediatrician who ordered some tests and said it might be a genetic condition. Ds has always had some cafe au lait birthmarks which I thought were cute, but on doing an internet search I have found that having six or more over .5mm is almost certainly a sign of neurofibromatosis, which could disfigure and even kill him. He has at least seven of them that meet the criteria. He also has the clumsiness, shortness, big head and other things that are symptoms. I have written to his paed to ask for him to be looked at but feel physcially sick and panicky. Has anyone any experience of this?

[WobblyPig]

More than 6 is a feature of NF in that less than 6 are allowed to be 'normal'. Son needs to be examined for other signs.
To be honest no one over MN is going to be able to diagnose or reassure you on this one.
Sorry, how soon can you get paediatric appointment? I wouldn't wait for a written reply , I would ring up not because the condition is urgent but because you are so concerned.

[MsAnthropy]

Hi, do you have experience of NF?

[WobblyPig]

Not personal. Am medical and see the kidney complications sometimes.
Do you have other children?

[Elibean]

My bil had NF, but he wasn't short at all, if that means anything.

Whatever your paed does or doesn't find, your lovely boy is ok today, and from what I understand could be ok even if he does have NF and he may very well not. Its pretty rare. WobblyPig is right, no one is going to be able to reassure you or diagnose for you, but FWIW I do understand your panic (have had different issues with dd2, all fine now, but caused varying degrees of panic both pre- and post-google in the past) and wish I could help.

[MsAnthropy]

I've torn up letter and emailed consultant in what I hope is an 'I'm not mad or paranoid, please take me seriously' way. I am sort of frozen between denial and panic right now. I have a younger child, who hasn't got a mark on them.
How was your BIL elibean? I have read that only 1per cent of children with three or more cafe au lait spots are perfectly healthy - for the rest it is part of a syndrome. Fantastic.

[Elibean]

MsA... I wish you could get an instant appointment, its horrid being in that frozen space of worrying but not knowing, worst place to be I think.

BIL was fine, apart from having a slightly shorter fuse than his brothers, finding school hard work, etc. But as his Dad was a temperamental (to say the least!) type and the schools were not easy either, its hard to say what was to blame for either. Health-wise, he was ok enough to go undiagnosed until his 40s when he developed a very rare cancer....he was very unlucky with that, its not the case for the majority of NF people by any means. They only spotted the NF in retrospect.

We had the genetics thing checked out before having the dds, but were told in BILs case it was a sort of one-off bad luck thing - so we went ahead. dd2 has a cafe au lait mark, and I asked the GP about NF again...but she only has the one, so they're not even checking her. It is pretty rare, I'm amazed that more than 3 means syndrome...there must be loads of people with more than 3, surely?

[msanthropy]

I feel extremely preoccupied and jumpy. I hope the consultant comes back to me soon. Because ds has an Aspergers diagnosis he has quite a lot of support at school. he's a lovely, lovely, very clever little boy but distractable and impulsive - no real patience. I never ever thought I'd find myself in a position where I'd be overjoyed to find it was 'only' Aspergers. I have read that all children with six or more should be treated as if they have NF... Lots of other symptoms only show after puberty and there is no blood test or anything. It's more than three which is unusual and six or more that is really indicative. I went over ds with a tape measure last night, which he thought was great fun and even his tiniest spot is at least .5mm. It is often a spontaneous mutation.

[Elibean]

Yes, I know that feeling. Hope he gets back to you soon too.

Your ds sounds adorable! I'll be thinking of you both.