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Please can any help re possible neurofibromatosis? Very scared (also posted in health)

(5 Posts)
MsAnthropy Mon 13-Oct-08 22:04:16

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?
(sorry to post this twice but didn't know where it would be read most)

Christie Mon 13-Oct-08 23:07:05

Message withdrawn at poster's request.

MsAnthropy Mon 13-Oct-08 23:29:39

Thank you - have emailed his consultant to ask for an appointment to look at him properly. He is so beautiful - I cannot bear that he might have a disfiguring disease as well as his other problems.

needmorecoffee Tue 14-Oct-08 08:20:57

no real advice. I have a friend who has 2 children with this disorder. It has a wide range of symptoms.
Hopefully your paed will get back to you quickly.

jimjamshaslefttheyurt Tue 14-Oct-08 09:05:45

I read up quite a bit on this last week (having come across something similar that reminded me of ds1). It has a very wide range of symptoms with some people barely knowing they have it at all. I think the scariest scenarios (severe learning disabilities, bad seizures etc) would have been apparent at a young age if they were going to be an issue iyswim.
Hope you don't have to wait too long.

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