.. so they've discarded DH's and sent mine and DS's off for further testing, results will take up to six months.
DS is 7 and has cerebral palsy type mobility/movement issues (can't walk unaided, some unwanted movements, uncoordinated etc), global developmental delay, ADHD, epilepsy, eczema, dairy intolerence, hypothyroidism). When we saw the geneticist last year, she ordered the blood tests because he hadn't had anything done, genetics-wise since he was little. She said she had a syndrome in mind but she was by no means sure. At some pushing from me (pushy mother! ) she mentioned Allan-Herndon-Dudley syndrome which I posted about and got an email from a Mner who DS has this, despite it being rare.
AHDS is carried down via the mother but only males are affected. The paeditrician (who rang with the prelim results) had no clue about any of this (even the syndrome name was not on any letters) so she couldn't give me any idea, but I am assuming that this is what it could be.
The gene affected by AHDS is SLC16A2 according to my Googling, but I have no idea where the deletions they have discovered are. I am trying to find out more the geneticist herself in the meantime.
I know I've got to wait, ultimately, but just wondering if anyone has any experiences to tell me about re recessive x-chromosome disorders (I think this is what this is.. [mind boggles])