Blood results are back and I don't know what to think.

[mumgoingcrazy]

DD2 is 19 months and has GDD and SPD (so far we have been led to believe that the GDD is due to her not touching anything or being touched, it is mainly her motor skills that are severely delayed). 3 months ago she had blood and urine tests done to look for chromosome abnormalities and other things and all have come back negative.

In a way I'm relieved, but then I still don't have any answers. We are being referred to a geneticist so they can look for rare disorders. In a way I feel the paed is looking for things that are not there, could it be that DD2 i just delayed due to her sensory processing issues? She is actually doing very well and her Physio/OT and SALT have all commented on how things are starting to 'click' with her.

What kind of things will a geneticist find that aren't picked up in the usual blood tests?

the geneticist will look back into yours and your partners history and ask questions and order other blood tests if they think they are needed. my ds4 is diagnosed gdd, he is 6 next month and we still dont have any answers from all the tests tbh, and he was 1st assessed at around 2. however i have to say the geneticist seems to try harder than anyone to try to figure out what may be causing ds4's probs. i know how frustrating this is for you but the harsh reality is that you may not get any answers for some yrs yet hun, i think however that you get to the stage where you stop caring about what their probs are, i think you stop seeing them a lot of the time, just enjoy her milestones and her improvements for now hun, put the tests to the back of your mind, personally i dont think about them at all and just get on with life now, i think you will eventually feel the same way hun.
good luck with them though hun, am just saying be prepared for no answers hun thats all x

Thanks mum24boyz, I think you are right. The paed admitted she thought these tests would flag something up which is why she wants the geneticist to dig deeper. The thing is DD2 (fingers crossed it continues) is actually doing really well at the moment and I'm finding it quite hard to believe there is an underlying problem. Our portage teacher seems to think the GDD is simply down to SPD which is is getting much much better with.

I've been stressing about these results for 3 months so in a way I'm quite relieved they are all negative in a way.

I just don't know of any rare genetic disorders and every time I search the net I end up getting totally confused and diagnose her with all sorts. I find it a bit dangerous. xx

god yeah hun dont go searching the net, been there done that and it totally batters your head. the geneticist when i last saw her said there were hundreds of diff things to look into, they will do all measurements etc aswell and ours took photo's if there is anything physical, ours did, but we still dont have answers. if she is doing so well i would just concentrate on that atm hun, they develop at such diff rates and 19mths is so young hun, there could end up being nothing wrong at all, just enjoy her hun.

You are right (again), I'm not even going to think about this one. She did yet another new thing today so I'll just see them when I do and go through the motions but not stress so much about it as last time. Thank you!

your welcome hun. good luck x