First appointment done – Is it Neurofibromatosis?

At long last Master A went to see the paediatrician last Tuesday. Sorry for the lack of update but I have been busy. This appointment was to see whether Master A has got neurofibromatosis. We still don’t know.

Yes he has cafe au lait marks. He has six, maybe seven. According to the paediatrician, it is a matter of waiting and see whether new signs appear. Last week I was content with this. I was happy that at least he was in the system. Now I am not. I am far from content. We have to wait six months. I can’t wait that long to find out whether he has it or not. I want to either deal with it if he has it or feel really really lucky that he doesn’t have it.

Why would I be lucky if he doesn’t have it? Well I have read that 95% of children that have cafe au lait marks have neurofibromatosis. With that knowledge how can I just be happy with waiting.

I phoned an advisor from The Neuro Foundation yesterday. There is a test they can do to see if Master A does have neurofibromatosis or not. I wish he could have that test done now. Right now. I really want a referral to the genetics clinic in Manchester. Then hopefully everything will be all right. I think I can cope with a diagnosis and I would be over the moon if Master A doesn’t have it. The not knowing is the worst thing in the world for me right now.

I want to phone the hospital in Manchester but I know that they will need a referral from the doctor to see me but I have to wait for the report from the paediatrican. I really can’t wait any more, I want to know whether there is something wrong with my lovely little boy.

He went to Diddi Dance today and he was not happy at all. I don’t know what was wrong with him at all. He can’t tell me, he cannot talk. He seemed so vulnerable and scared.

I will love my boy regardless and I only want whats best for him, for Miss A, my OH….and for me. The not knowing what is wrong is not doing me any favours at all. Six months is such a long time to wait.

One comment

  1. LBeaton says:

    Hi there, I just wanted to say I have been where you are. It was a very long 6 months wait and I we had a blood test and it came up positive for legius syndrome. Take care x

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