Good luck and lots of prayers heading your way honey! No doubt you will have a tough day but you will get through, I promise. If its worse case then make sure you lean on everyone who is reaching out to you. You will need all the support you can get. And please talk to someone professional both you and DH. Make sure you get some debrief time in no matter what the outcome! Its important for you both to have that time.
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
Wow, what a couple of days for you. I bet it still hasn't fully sunken in yet. I'm sorry that the findings weren't exactly what you were wanting to hear. My heart goes out to you and your family and hope that you can get through this weekend and enjoy DS birthday.
For what it's worth you sound very calm and confident in your words. I hope you realise how strong, brave and what a wonderfuly mother you are.
Will they ring you before your appointment with the first results tomorrow?
I'll be thinking of you and send you all my courage and best wishes during your wait and for your next appointment.
Take care of yourself and have a great time with your DH and DS and your little belly baby on his/hers big brothers birthday.
Sorry should have added that I was told I will be called with the first part of the results but I don't know if it will be tomorrow of Monday, I guess it may depend on what time of the day the results come in???
Fingers crossed I find out tomorrow, also forgot to add that since the scan was done mostly in 4d I was looking to see the sex of bubs and I'm pretty sure its a little boy, I'm not a Dr so obviously i could be wrong but dh doesnt want to find out yet so i couldnt ask them to confirm so I've kept this to myself for now to respect dh wishes.
xxx
I hope the wait for the results goes quickly for you. I found the wait for the amnio results very difficult. The 24 hours I waited for the FISH results seemed like forever, then the days til the final results dragged too. Please take care of each other while you go through this very difficult process.
i hope everything is ok huni...i can only imagine your feelings at this time...you and your family are in my thougts...let us know how you go.
take care
love rach xxxx
i'm glad you have good support people around you, and the doctors seem to giving you as much info as they have.
When i was born, my feet were twisted up the sides of my legs with the soles kinda touching the bottoms of my legs. I had surgeries and plasters and although my feet aren't perfect, i walk on them and only limp when i am tired.
I know your baby's feet is just one thing they are looking at, but i just thought i would share my story.
Look after yourself as you wait for the results and your next appointment,
WBM,
Thanks for the post we have all been eagerly awaiting your results. Another tough wait ahead of you all and I will again pray that it goes quickly for you all and that you get some reasonable answers. DH cousins first child was born with VERY bent legs. Very is an underestimation. The Dr said that in tim they will straighten. They went from Dr to Dr begging for someone to fix them. But in the end the Dr's were right and she is now 6 and you never had known she was born with bent legs. I pray that is the worst thing you have to deal with. I really do hun!
Hi ,
I am sorry for your bad news but Hun don't panic now....My daughter was born with Sacral Agenesis she is missing her spine from the bottom of the rib cage down. she has nothing nadda zip there. My daught has no butt muslces you stand a frog on it's back legs and that is my daughters torso.
She can't pee or poo by herself she has to cath herself 6 times a day.
We were told she would never walk she couldn't servive past 18mth etc.
But you want to know something, Heather walks she may not run but she damn well tries and she will be 7 years old next may.
She also had talipes on both feet and has frozen feet that can't move at all.
PROVE THEM WRONG, If we had have given up and did what the dr told us to do we wouldn't have our little spitfire.
Our problem is genetic so they say 50/50 each pregnancy I have 4 kids and she is the only one so far.
Please don't give up on yourselves and your child, They get their strengh from you if you beleive it can be done then damn fire it will be done.
Best wishes and if you need advice let me know I have been there kick them if you know what I mean.
I have a mate who was born with sacral agenesis. She is 35 years plus, has been a world class athlete, holds a couple of degrees and is currently completing her PhD while teaching at university and is a great mate.
WBM- I haven't posted but i've still been following. You are so incredibly brave and i hope you realise just how strong and amazing you really are. I cant imagine, i can only offer support .
Hi Kate,
Do you think your friend would mind contacting me regarding her condition etc as Heather is one of a very few with spinal loss from t1, They honestly didn't know what to expect with her so we are taking one day at a time.
Heather can walk for a limited time and is now getting her first custom made wheel chair PINK of all colours......lol She is very small she weighs in at 12.5kg and is 89cm high.
But what she lacks in body parts she makes up with her mind she is in the top 2% of her class and is very bright.
I think this child is going to go far in her education as she has a never say die attitude.
Heather doesn't see herself as different and is treated like any other child.
We went through a DIVA stage last year when she started school as everyone wanted to help her do things so she just sat back and lapped it all up.
I kicked that in the butt you get nothing in this life for free.
So if there is anyway you could contact your friend and if she has the time. I would love to talk to her about how she coped growing up and her linits if any on what she can do.
Reply With Quoteand I have everything crossed for you today.
Registered User
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Tough ones eh!
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