I can't bear this uncertainty [sad]

[emkana]

Some of you might have come across my previous threads.

Basically, they found at the 20 week scan that the ventricles of my baby's brain are enlarged, also that the femur was too short. Since then I've had repeat scans and an amnio (which was clear). After the last scan I was referred to the regional fetal medicine unit. The consultant there scanned me today. He found the size of the ventricles of the brain to be around 15 mm, which is borderline between mild and severe enlargement and the biggest measurement we've had so far. He also found the measurements for femur and humerus too short for dates, and too much amniotic liquid. As a result he feels "anxious" (his words) that there is a genetic problem. But he hasn't come across a case quite like ours before, so he has no idea what it could be. According to him we could be looking at anything from no to very mild problems to severe handicap.
We are now going to have an MRI scan, but while that will show if the structures of the brain are okay, it will still not tell us if the brain is actually working properly. He will also do another scan in two weeks' time to review. But he said we might not know until some time after birth if there is a problem and how severe it is.

I feel totally crushed and the uncertainty is driving me insane. Our baby could be fine, or he might be so ill that he won't even survive.
I didn't expect this at all today, I was so hopeful that he would reassure us because the consultant at out local hospital had said that the length of the femur had no further implications after the clear amnio, and when they scanned here they didn't say anything about the amniotic fluid.

Part of me wants to believe that the consultant today just got it wrong, but as dh said that's silly because he's an expert and experienced and knows what he's doing.

I'm having so many black thoughts, from wishing I had never got pregnant in the first place... I remember the night of conception, dh wasn't in the mood but I made him do "it" so we could get pregnant... maybe I shouldn't have.
Then fearing that my life will never be the same again, all our dreams and plans out of the window, the lives of my two dd's altered forever...
god I can't go on it's just so bad, I want to feel hope but then I felt hopeful this morning and it all went wrong, so maybe I should just assume the worst.
I don't know anything anymore.

Tbh the whole experience of the scan today was just awful, not helped by the fact that I kept feeling faint and kept having to change position. It really is true what they say about lying on your back in pregnancy!

I'm feeling surprisingly calm atm, just thinking that there's nothing I can do and that we will just have to wait and see.

I remember the faintness and sometimes they press really hard, it's not pleasant knowing you've got lots more scans ahead

I'm sure they would test for translocations routinely. Would be bizarre not to if someone's gone through an amnio. Might be worth asking the consultant at the next visit just to make sure it hasn't been overlooked though.

Best way to keep calm, it's impossible when you have test after test but if in between you can try not to think about it at all it's probably best. Films help to switch off.

So sorry to hear that you still have all this worry and uncertainty Emkana.

My situation with ds1 was slightly different, but something abnormal was picked up at my 20 week scan and I was sent to King's College Hospital and scanned by Prof Nicolaides. He picked up the problem as well and I was sent home and had to go back in a months time to be scanned again. When I went back for the 2nd scan, they couldn't see any sign of the original problem and I was sent back to my own hospital for future scans.

When ds1 was born, he did indeed have something wrong, although it has never caused him a problem.

I'm probably talking drivel now, but I just wanted to let you know that even the most experienced of scanners can make mistakes and things may not be as bleak as they seem. I hope you understand what I'm trying to say. x

I keep wanting to believe that they might be getting it all wrong, but dh isn't having any of it.

I'm so very sorry you're going through this, emkana. One of my boys had a potential kidney problem spotted in utero and I was just beside myself with worry at times, even though they were clear that even if he was badly affected it was not life threatening and was unlikely to be serious in the longer term. But I still found myself tearful and worried whenever I thought of it- did use jj's tactic of trying not to think about it but sometimes I couldn't help it. I can't even imagine what you're going through with far less certainty than I had. I do hope the mri will bring good news for you. You are wonderful holding it together at the girls' school. Will be thinking of you.

Poor you emkana, sorry, no advice but this must be hard.

So sorry, no advice, but sending my love and you're in my thoughts.

I'm so sorry you are going through this emkana.

I agree with Tamum in that there is no obvious genetic 'syndrome' that springs to mind - but I am also not a clinician.

I can say that amniotic fluid samples in this situation are looked at for both translocation DS and standard trisomy DS - and are given a full screen for other abnormalities of all other chromosomes. This is as much as can be done unless a specific syndrome is suspected.

the 'experts' can get it wrong.

my brother and his wife were told their baby had a cyst in its brain, that it had edwards syndrome, may die within months/days of being born.......he was fine.

i so hope this all works out for you and want to give you a big hug,x.

Thank you.

I think I am in denial. Keep thinking he might have got one of the measurements wrong and it might all be okay.

Probably clutching at straws.

emkana, read it carefully now and still don't know what to say. I'm sorry you are going through this.

emkana, I have no helpful advice but just to say I am so sorry to read this. I remember when you got the good amnio result being so pleased for you. Now this.
Agree with other posters who say don't blame yourself and forget the what ifs - just concentrate on you and being as well as you can.
Thinking of you
Claryx

Hi Emkana

I posted on your other thread (after your amnio) - we found at 25 weeks that the ventricles in DD's brain were enlarged and an MRI confirmed agenesis of the corpus collosum. She is doing just fine and developing perfectly normally (now 8 months old). I can't remember the ventricle measurements but I think they went up to about 14mm.

When are you having the MRI? The scanner is quite noisy and bangy. I would have felt claustrophobic if I had been having my brain scanned but because it was my tummy my head was quite near the other end of the "tube", iyswim.

Do CAT me, or I can chat on here if that's of any help to you. I remember that awful hysterical terror. I spent several days drifting around the house sobbing and trying to ignore the baby's kicks as I was too scared to bond with her

I was referred to a counsellor at the hospital, and she really helped me cope with the pregnancy. I saw her every week or so and I tried to keep on top of my fears the rest of the time and let it all out at the appointments.

Having your diary full of hospital appointments is horrible as well, isn't it? My whole life and routine revolved around them. I have two other children too so I was always having to sort out childcare for them which stressed me out. I found it helpful to have easy, relaxing books to take to hospital with me, to read whilst I was waiting and I kept a bag of magazines/snacks/water in the hall so I didn't get into a flap getting ready for each appointment.

I really do feel so badly for you. You sound so frightened.

x

Emkana I'm really sorry that you've got so much on your plate again.
The only thing I cna say from my own experience is that dd was diagnosed after birth with Noonan Syndrome - in its worst form it can be terminal, however dd has it in the mildest form and is perfct in every way - minor problems and really not too much for us at all.
Had we found out when I was expecting that they suspected this syndrome, we would have researched it and in all likelihood would have seriously considered termination. Which terrifies me now.
This probably makes it no easier for you, but doctors often do fear the worst, is there any kind of genetic fetal specialist you can further discuss with?
Wishing you lots of luck and love with this and a happy outcome.
xxxxxxxxxxxxxxxxxxx

Oh also and a cardiologist scanned dd at 7 weeks and found a massive hole in her heart that required immediate surgical correction as well as a narrowed pumonry valve - immediately life threatening they said at the time.
Got next day appt with top cardiac surgeon at Southamton and guess what
No hole anywhere to be found and mild valve problem requiring no treatment.
The original scanner was a top military surgeon with top equipment in a teaching hospital.
WE were panicking for 24 hrs, never been so happy with a doctor error
it does happen xxxxxxxxxxxx

Thank you all for posting.

I think I might ask to be referred to a counsellor. I feel I need to talk this through. Who can I ask? the midwife?

Did they not offer you counselling when you had the news from the scan?? ! I would ask your MW and failing that ask at your next scan (they usually have counsellors around for the bad news moments)

I'm so sorry that you are having to go through this emkana - I agree with JJ that it must be best to try not to think about it too much, although that is probably incredibly hard. I have dd2 with SN and we don't live too far from you in Cirencester - think you may be seeing the same geneticist as us (he is based in Bristol). He was quite helpful (although unfortunately no diagnosis for dd2 yet). Hope the MRI is helpful and also that you can access some counselling from a suitable person. Thinking of you

At my hospital I was referred to the counsellor by my consultant. The counsellor wasn't medically trained but was a trained counsellor (with a social work background), and she really helped me to keep myself together for the rest of the pregnancy.

I've got the MRI scan tomorrow morning, but on Tuesday I will definitely phone the midwife to ask about counselling.

Am seriously thinking about declining any further scans after the MRI scan. All this scanning just seems to make the anxiety worse, not better.

emkana, have just seen this and am so sorry for all the worry and anguish you're going through. you are really cared about on here. keep posting and bumping. thinking of you. xxx

You poor love. I can't imagine how anxious and upset you are feeling, and I don't have any real advice.

You are in my thoughts.

emkana, im reading this thread and feeling so sad for you. no matter what happens with this baby, you will get through this. im sending you some positive vibes to get you through this difficult time. xx

Best of luck for your scan xxx I would probably deny the further scans too... as long as there isn't anything they're watching to see whether it will improve or get worse iyswim (with DS his kidneys were swelling up at an alarming rate, so couldn't decline the scans..)

Will be thinking of you tomorrow