Hi
I am really freaking out and need a hand hold please.
DD is 6 mo and was at the doctor for something totally unrelated and he commented on her cafe au lait birthmarks and counted five. He asked me If I had any and I said yes, quite a few! He them referred her to the genetisct and mentioned NF1 which I had never heard of.
Cue google when I got home and I am now in a real state. Not only do i have two of the criteria for a diagnosis (6 cafe au lait spots bigger than 15mm and underarm and groin freckling) but i also have à couple of fatty lumps under the skin which GP had said were lipomas but could be wrong and they could be neurofibromas.
How can i be 40 and never diagnosed! I also counted 4 cafe au lait spots and saw underarm freckling on 3 year old DS.
I am in a mess, not only do i have à genetic disorder I didnt know i had but I have very probably unwittingly passed it on to my two beautiful babies. I have spent too much time on google and am horrified at how severe this disorder can be. I feel like i am living in the middle of a very bad dream. I cannot sleep for worrying what is going to happen. Its a,very unpredictable
isorder and can vary wildly in symptoms between family members.
I know none of us have been officially diagnosed yet but enough criteria is there. It is really getting me down and I cant stop thinking about it.
Does anyone have any experience of NF1 or how i can get my head around such life changing news?
Thanks xx