Finally got to the genetic specialist yesterday. My ten year old had a derby eye appointment on tues so his notes hadn't been passed over which to me isn't good enough. Anyway she seemed pretty stumped to be honest. She is reasonably happy it isnt marfan or any of the main ehlers danlos syndrome. She thinks maybe something called stickler syndrome.
She agreed to repeat the heart scan which our derby consultant refused as apparently 'nothing in the body changes' whatever. His last one was at six years old. Sometimes children can have a floppy valve with this condition.
We may need to be seen at a hospital in Cambridge! To get a examination of the eyes as even our brilliant hospital consultant cant detect them.
She is going to have a think about stickler and presume get back to us. Hopefully the heart scan will be at derby.