Hi All,
Firstly sorry I haven't posted earlier I did try late last nite but couldn't get onto the site for some reason.
Ok so we (DH, my Mum, our son & me) arrived at our appointment all very anxious, and were warmly greeted by Branden (sonographer) & Valeria (Dr), they asked us how we were and we got straight into it. It was so nice to have to repeat our situation to them, the remembered us although they would have seen hundreds of patients from our initial meeting 3wks ago.
As soon as the ultrasound was started he went straight to the babys legs, and surprising to us all the baby's legs were extented and doing big kicks, although at the last scan we were told that baby didn't have any use or control of its legs....
So I had a huge sigh of relief...!!!!
Boy was that way too soon, my hopes were high for the first time in 3wks but that only lasted a few minutes..
Dr started explaining that although it was a good thing that bubs is using its legs, all the bones in both of the legs are bent, like a curved shape. And said that she thinks its unlikely that any type of surgery would fix it as it is all of the bones, not just one bone in one leg.
So that damped our spirits as the Dr added that our baby will never walk.
Also the feet are formed properly but don't seem to be facing the right way, from what I understand they are twisted pretty bad almost like they're back-to-front.
They continued to scan the rest of the baby, focusing on the spine (checking for spina binfida) and they said that the spine looks really good, checked digits on hands all good, checked baby's size and its measuring exactly the right size which is good, as the last scans kept showing about a weeks and a bit smallers, the only thing is the legs measuring smaller but the 15wks but they are 13wks and a few days but they said if the bones were straight they would be measuring the right length.
Dr asked Brendan to scan over baby's brain, they mumbled a few things to each other and and then looked at the face profile, then Dr said that they baby's chin is smaller then it should be, not in the normal like with the lips as it should and then said they also noticed a problem with the brain to.
I can't remember the actual name of the part but its right at the bottom of the brain and connected to the top of the spine.
Well they said it looks as though there's a problem with it, it's being pulled downwards by the spine and they think it may be linked to the leg issues.
So he then finishes the ultrasound and Dr says that with the new findings she is leaning more towards the diagnosis being a syndrome more the a chromosone or genetic defect/problem.
and says that she is going to speak to a Genetics specialist/councilor and get them to make an appointment for us to see them.
I then asked if they were going to do an amnio and she said they would if I wanted it, I said that I would but only if it was going to help us get some sort of answers and also that my Ob had asked for it to be done.
So my mum took our son out of the room and they started to procedure, I was pretty scared and nervous and think I held my breath the whole way through.
When it was done she said that the first lot of the results would be in this friday - the results r for downs, trisomy 13 & 18 and the sex, the rest of the results will be approx 2wks.
We just discussed the situation a bit more and then she said that as soon as we leave shes going to contact my Ob and the Genetics Professor to see how soon we can get an appointment.
Then we left, feeling scared and confused just as we had when we arrived.

I got a phone call this afternoon from one of the specialists and she told me that our appointment is next Wednesday at 11am. She asked me a heap of questions and wanted to know exactly what we had been told. Said they're hoping that by the time we get there they will have some answers for us. they are going to try and match our babys problems with others in medical records to see if they can give us further information at what we are looking at.
So now I'm so anxious for the next week to pass, and I'm hoping it will be a breeze considering the wait we have just been through in the last 3wks.
It's our son's 2nd B'day party this sunday afternoon with my husbands side of the family which is quite big and its going to be a huge hurdle for us to get through that as none of them know whats going on and we always get heaps of questions about the pregnancy and its getting so hard to just smile and pretend that its all ok.

On that note I think I might leave it hear and I apologise for the long post, so much to write.
Thanks for reading
xxx