Posted: Thu Aug 26, 2010 4:02 am
we have an appointment at the end of the month and i did and still am getting slightly stressed over this.... if you say noonans syndrome to anyone without a computer in front of them they automatically answer with. what is it or whats does that mean.. the latest is will he die! ER< NO!! any way.. there is no specialists in the uk.. except one, in aberdeen.. im lucky to have contact with a noonie mummy there!
so, anyway, we are going for bens appointment, at the out patients clinic, which bugs me!! it will be ANOTHEEEEEEEEEEER doc who hasnt see him b4 that takes 30 mins extra to read thru this notes. never fully taking in what is in front of him, plainly thur a non understanding. im asking him questions.... which btw a 2nd yr student would apperently (haud on i am) ask, or so iv ben told! IMO its frigging common sense!!
i gave up fighting it my self, iv asked the FIL to really help, im glad he did. im now in touch with the right person/geneticist that can investigate and find us an answer on which strain/type ben has. im really glad she understands that a certain common type isnt the only one to search for!
iv been battling this with no words to explain! i look at my wee tiny and i do not see a difference! his syndrome is features mainly (no congenital heart probs to date) and as slusy ucky lovish this sounds...... he is my wee dude and is no diff from the society's perceived normal!