The last one we saw was in Manchester when we lived up North. This one wants to start completely from scratch going back to square one looking a DS's chromosomes. I'm really pleased about this as although he has been tested for various things in the past (all "normal") I assumed there would be more to test for now and it seems there is.
She asked LOADS of questions (as expected) about his medical history, the pregnancy etc and then about family history but seemed to be concentrating more on the maternal line going back to my maternal grandmother. Eventually I asked her if she had something in mind (as DS has no main diagnosis.) She said she had several things in mind but admitted that the main one related to the maternal line.
I asked her to tell me what it was and she was a bit unwilling because she said she doesn't want me to get my hopes up of a diagnosis and I told her I was "past all that" and that I had given up barking up that particular tree years ago! (DS is 7.) I said I "just wanted to give it a quick Google..." ). And she said she would advise against it because if I read up on it I would be convinced he had it because of the description.. but eventually I got the name out of her.. and yes, she was right, I Googled it!
It's Allan Herndon Dudley Syndrome. V. rare, one website says only 25 families affected worldwide. And yes, she was right, from the description alone I am almost convinved he has it. He has the muscle tone problems, can't walk unaided, speech difficulties, hypothyroidism, is very sociable and even has the ear anomolies. But I am being sensible and I know the blood test could be negative showing that he doesn't have it.
DS, DH and I have to have blood taken. It would be weird to have a diagnosis after all this time but I'm not counting my chickens. My main fear of a diagnsosis is a horrible prognosis but this syndrome does not seem to include anything terminal or unexpected. We know he'll always be severely disabled. I don't expect a diagnosis to bring a mirable cure.
She also pointed out that a diagnosis may be relevant to DD (DS's only full sibling). I had never considered that before oddly enough.
I will keep you posted.
Fio, I know you wanted to know about this appointment so if you don't see this I will email you! She is nice isn't she? I liked her. She was very professional but didn't talk to me as if I was an idiot. (She terrorised a poor med student who was with her though.. questioned himself relentlessly on rhesus incompatibility - which applied to my parents.. well and me and DH but it's not a problem these days... and he didn't have all the answers and looked as if he wanted to die on the spot poor chap.. )