Genetic counselling, anyone else had it?

[fio2]

Well the genetic nurse has just been to the house to get our family history and stuff and to explain to me what is going to happen at the appointment with the geneticist for dd. I am shaking (think I need a glass of wine!) She said they may be able to give a diagnosis on the first appointment! or she may take photos of her and then refer to other geneticists. Oh dear I am frightened, I know it will be better to get a diagnosis but Im just scared it might be something really awful Please tell me to pull myself together

Forgot to say, if it was a tiny duplication it would have had to have arisen in your dd, it couldn't be inherited or you would have the same thing, so again no implications for any other children

I'm glad it went well, fio! Sorry, have not been on here for a few days. She sounded very thorough.

Your dd does sound similar to ours, as you know dd2 also has microcephaly and has had a overall chromosomal check which showed nothing abnormal. She has some slight facial markers (her eyelids have no 'epicanthal' fold (??) which is similar to Downs). Still waiting for the results of the Retts test. The only thing I've noticed recently is she has very long big toes and a birth mark at the base of her spine which seems to be getting darker - better mention that to the paed next time, I suppose.

Glad you are feeling happy about things and she put your mind at rest

thanks caroline when will you get the result? Ours apparently only took 6 weeks to get back as it was done in the first batch. Did you get the result for angelmans aswell yet? Has this birthmark just appeared or has it always been there? I know this is one thing she looked for with our dd. The only marking our dd had was a dimple on her shoulder - which she did think wasnt significant.

Apparently the geneticist said there can be a 100(s) causes of microcephaly and the majority of kids never get diagnosed. (tanum will most probably confirm this) I am hoping our dds are in the minority that do get diagnosed! I am having to sort out a few photos of family members and ourselves at dd's age to send off to her atm - that is a nightmare in itself

The Retts result might be through in January they said. The Angelmans test was negative. I think she always had the birth mark but it seems more noticeable now, plus she's got slightly darker skin on her tummy to the rest of her. Very puzzling! (Any ideas, tamum?!)

I agree, hope our dds are among the ones that get a diagnosis. Good luck with the photos!