Dd is just over 2.5. She is kind, happy, fun to be around and along with her baby brother lights up my world - but she has a mild global developmental delay and bigger delays in gross motor and expressive language (she isn't walking or talking but has quite a bit of makaton). She was born at 34 wks and was treated last year for a late diagnosed hip dysplasia with an op and 3 months in a hip spica.
Until recently her paed has put her late development down to a combination of the above. But towards the end of last yr he started looking for other issues and we have now been referred for genetic counselling. At the end of our last appt he mentioned kabuki syndrome (a rare genetic condition) as a possibility - and reading up Dh and I are pretty sure he is right. She has a lot of the signs and common features.
In many ways this is a useful development - it gives us the opportunity to look out for known issues we might otherwise be late to spot - and a kick up the arse to increase her private salt and get private ot - but it hurts like hell. I am scared and confused, and it is hard having to be cheerful and play like nothing is wrong all day - by the evening I just want to cry. I'm so worried both for her and also about the impact this will have on her 3 month old brother when he is older. It is the first time really we have been properly faced with thinking that this isn't a patch and that dd is going to find things harder than most people probably all her life.
We are also in a bit of a wired place as while we have a possible dx that feels right to us we probably won't know for sure till we get the genetic counselling in June.
Sorry to introduce myself with a whinge - I guess I suspect some of you have been through similar things, and I'm hoping for reassurance that while life is likely to be more challenging than we had hoped things will fundamentally be ok in some sense of the word!
Thanks for listening.