V bad odds for Edwards and Patau's syndrome... Scared.

(110 Posts)
bayswatersophie Mon 21-Mar-16 14:27:15

Here's the background...I am pregnant at 40 with my third baby. The other two pregnancies were plain sailing all the way, and two beautiful girls, no issues other than difficulties in getting pregnant in the first place. I was subsequently told by my doctor that I would not be able to get pregnant with another child and had made my peace with that. So I was beyond surprised to find myself 8 weeks pregnant this January... Unlike the other two pregnancies my husband and I felt very mixed emotions at first about this one... We had mentally moved on from the idea of a bigger family and were not thrilled at first. However, after a couple of weeks of living with the news we were happy and excited about this unexpected gift of a third baby. The 12 week scan was lovely and normal, good NT. I went ahead with the blood tests for the triple test and didn't think anything of it. It went down hill from there.... The results were mislaid between the lab and the midwife and when she re requested them to be sent after me pressuring her to get them (took a whole month) it turns out that the hormone levels were extremely low and that an urgent scan was recommended as they suspected a miscarriage or Edwards/ Patau's. I had the scan last Saturday and the doctor was pretty reassuring. Apparently no visible problems other than the fact that the baby is very small for term and they spotted one cyst. I felt reassured but booked for the Harmony blood test just to be sure. At my appointment today they took one look at the bloods and the scan and told me that I should have the amnio straight away as results would come in 48 hours, rather than wait for the blood test which takes 10 days. She said she was very concerned about the combination of my age/'retarded growth ' / the cyst and the bloods. She wouldn't give me a statistical chance for either syndrome as I live in France and apparently they don't give out the odds other than for Down's Syndrome (which is v low risk due to good NT and low hormone result) but her reaction made me feel they can't be good...The next thing I knew I was signing consent forms and lying on the couch waiting for the needle. Now I am at home going out of my mind with worry, googling and thinking the worst. I feel irrationally that somehow this is my fault and my punishment for not 'wanting' this baby initially...
Has anyone experienced anything similar and did it turn out ok? The next two days of waiting feel like torture....

Flossiesmummy Mon 21-Mar-16 15:09:39

No real help, but offering a hand and these thanks

KittyandTeal Mon 21-Mar-16 15:15:41

I'm so sorry you are going through this.

It sounds a similar(ish) story to my dd2. My bloods were very low, but came out as low risk. Had growth scans all fine. 20 week scan picked up brain anomoly, Kings picked up more and told us it was almost definitely trisomy 13 or 18. Amnio diagnosed T18.

We opted for a tfmr at 22 weeks.

I also felt guilty because although dd2 was very much tried for I panicked after my bfp about how I'd manage 2.

I'm happy to answer any questions you have.

Do you have the details for arc? They are brilliant for antenatal screening results

bayswatersophie Mon 21-Mar-16 15:53:53

Thank you Flossies for the virtual handholding, it helps...
And thank you Kitty for sharing your story... Am glad am not alone in the feelings of guilt. I know that if the amnio is positive for 13 or 18 we will have a termination but feel so wretched about the thought of having to go through labour at 20 weeks and to say goodbye to a little person... If it comes to that any advice you can give on dealing with that experience would be appreciated, if you feel you can share.
I have the details for Arc, haven't called them yet....

KittyandTeal Mon 21-Mar-16 16:19:46

I really hope it won't come to that. However, if it does you will get through it, if for no other reason than you have to!

It's a bit preemptive to go into advice about labour and delivery at 20 weeks but I am more than happy to share that experience too.

The next 48 hours are, in my experience, some of the worst. Once you've got an answer you can almost 'get on with it' (I know that sounds very cold but that's how I've felt) Being in limbo and not knowing is awful. I found I ran details of the scan and things the docs said over and over again, I researched everything I could about both conditions (and then, somehow correctly, came to the conclusion it was T18). Dh and I must have had the same conversations over and over on those 4 days (our results were due Friday evening but they have to re-run positive screens so we didn't get results until the Monday morning)

Try to eat a bit and sleep a bit. If all else fails just one foot in front of the other. I guarantee you will be utterly exhausted at the end, whichever way it goes.

💐

bayswatersophie Mon 21-Mar-16 16:26:23

Just took your advice Kitty and rang Arc. They were brilliant, very kind and humane which is more than can be said for the medical profession I have seen so far
Thanks for suggesting

KittyandTeal Mon 21-Mar-16 16:45:49

They are utterly brilliant. As are sands but hopefully you won't need their support.

Arc also have a forum that I found really helpful. It is restricted to women or couples in your situation, for example I am on the board for women who have had tfmr, there is a different board which I cannot a access for those who have decided to carry to term etc. I presume there are boards for people currently going through antenatal diagnosis too.

I'm sorry you've not come across kind medical professionals. I'm lucky in that my local sands group are very active and have strong links with the local hospital. All the obs and gyne staff have specific training on how to deal with women and couples going through tfmr, still birth and MC.

Your hospital should have a screening midwife who often also has basic counselling training (and therefore know how to communicate well) it might be another point of contact for you.

sofato5miles Mon 21-Mar-16 16:59:58

How frightening for you OP.

My DD a 1:2 chance of Edwards/ Patau, once I had had the triple test. We decided on the amnio and were very lucky to get good results and a baby with no abnormalities.

This is a very difficult time, but once you get more information you will gain some control.

You are in my thoughts.

TheDisillusionedAnarchist Mon 21-Mar-16 17:04:01

I'm sorry nobody has been kind. We also had a low risk nuchal and then some oddities at the 20 week scan. DD had T18. We chose to continue with the pregnancy which for us was the right choice. DD was born in September and died aged three months on New Years Day.

My honest experience is that if T18/13 are suspected it is almost certainly likely to be a positive. I remember hoping for T21 when waiting for amnio results, at least that wouldn't be so bad.

However now, I wouldn't go as far as I'd happily have T18 again but if it comes my way, so be it. We were incredibly fortunate to have the experience we had. I totally understand why people make the decision to terminate, in many cases T18 has an incredibly poor outlook, ours was one of those but please be certain you make those decisions on the basis of what T18 and T13 really are, significantly life limiting disabilities associated with profound neurological disability but not incompatible with life, not lacking in joy, not impossible to survive (oldest T18 survivor in the UK is 24yo, oldest globally reported was 50)

I hope for you this isn't trisomy 18 or 13 and that your experience whatever you decide is right for you. I think for all parents the most important thing is to have peace with their decision making.

My thread on choosing to continue is here: www.mumsnet.com/Talk/antenatal_tests_choices/2400479-Continuing-a-Pregnancy-with-a-lethal-diagnosis

bayswatersophie Mon 21-Mar-16 17:21:51

The difficulty for me is navigating the French medical system and doing it all in my second language. Here you are kind of left to pro actively seek your own care whereas in the UK it is all taken over for you by the NHS. Not that the NHS is always perfect but I remember feeling with my first pregnancy in London that it was quite joined up between services and I felt in good hands. In France they leave you to choose a gynaecologist or independent midwife and then you as the patient make the link with the hospital and the labs for the tests. It can be great, as experienced with my second pregnancy in France, but equally can be bewildering and hit and miss like this time.The independent midwife I saw was totally clueless about the results, clearly had no experience of this situation and told me that the labs said the baby was probably dead given the bloods (thanks for that), the sonographer when she saw I was panicked by the results pretty much told me to stop asking questions and let her get on with her job and then today at my self referred private appointment there was no sense of making the risks relative, it was amnio or nothing and right away, no attempt at talking through the implications. It was a huge relief to talk to someone calm and knowledgable at Arc who could put it in perspective, and who told me it was quite common in France to be 'needle happy' as she put it about the amnio. So clearly nothing will give me full peace of mind until I get the results but she talked me down from the spiralling panic.

Thanks so much Sofa for your lovely story , am so pleased for you it all turned out so well after such a scare

bayswatersophie Mon 21-Mar-16 17:26:36

To TheDisillusionedAnarchist, I am in awe of your bravery and my heart goes out to you for your loss

KittyandTeal Mon 21-Mar-16 17:28:42

Ah yes, sorry I forgot you were in France.

Yes, French health system is famous for doing amnios left, right and centre.

TheDisillusionedAnarchist Mon 21-Mar-16 17:35:18

Helpful midwife you have there! I would say if this isn't a trisomy, check out the Papp-A, low Papp-A is in itself a risk factor for placental issues. Hoping they have it wrong. We had low risk and still had T18, plenty of high risk people don't have T18. Infact the nuchal and bloods are not that great at detecting T18 or T13, even Harmony misses loads, especially T13.

TheDisillusionedAnarchist Mon 21-Mar-16 17:38:55

and not brave at all. Making any decision, to end the pregnancy or to continue takes courage. Everyone has to do what is right for them.

bayswatersophie Mon 21-Mar-16 18:19:44

I know! It was such an insane thing to say that I almost laughed. Thanks for warning what else to look for, that's also what no one else will tell me here. They can't get past the amnio but if by some miracle the T18 and 13 is ruled out then I will need to try hard to get myself informed about the other possible implications of these results

KittyandTeal Mon 21-Mar-16 19:06:04

Is there a fetal medicine unit or centre near you?

I have no idea how it works in France but we were referred to kings which has a fetal medicine specialist centre where the docs are much more highly trained and knowledgeable about fetal medicine/issues (hence the doc looking at my results and staying right away that it was a trisomy)

bayswatersophie Mon 21-Mar-16 19:12:24

In the UK I would have got myself straight to Dr Nicolaides and when I asked around here for something similar they directed me to the American Hospital where I had the amnio this morning. But they did not do any testing or scans for me there other than the amnio so as far as interpreting the results so far, could only go by what the last sonographer report said

KittyandTeal Mon 21-Mar-16 19:19:59

Gosh that sounds quite disjointed. It adds to the worry I suppose.

Does your hospital have a foetal medicine consultant or director that you can be refered to?

HopeintheAir Mon 21-Mar-16 19:21:30

I'm so sorry you are going through this.

I recently was given combined odds of 1:15 for trisomy 21/13/18 mostly due to low papp a. I had a cvs the next day and waiting for the results was incredibly hard. The results came through as negative for all three which was a big relief for us.

I hope it's helpful for me to write this. I found it a huge comfort when pepole shared their stories with me.

Thinking of you and wishing you all the best flowers

bayswatersophie Mon 21-Mar-16 19:27:27

Kitty, I know, the non -joined up nature of it all makes it v stressful. I had booked another appointment with the fetal medicine unit at the hospital I am supposed to be giving birth at. But they could only see me on Weds at which stage I may have the amnio results anyway...

Thank you Hope for the positive story, it does help to hear that

bayswatersophie Tue 22-Mar-16 18:53:44

I just got the call from the doctor. It is confirmed Trisomy 18. It is devastating but as Kitty said in an odd way a relief to know. Any help you can give on getting through the next days and weeks I would sincerely appreciate

reader77 Tue 22-Mar-16 19:01:06

I don't know you (obviously) but here to hand hold and listen. X

Chippednailvarnish Tue 22-Mar-16 19:04:36

I'm really sorry to hear that OP. I can't add any advice, but I hope things go smoothly for you whatever path you choose.

bayswatersophie Tue 22-Mar-16 19:07:30

Thank you so much, it is so hard to take in

KittyandTeal Tue 22-Mar-16 19:13:16

I'm really sorry to hear that. Hearing those words are some of the hardest words I've heard.

Now you have an answer/diagnosis take some time to make a decision on what to do next. We had made our decision while we were waiting for the results to come back so it went pretty quickly for us.

I am happy to talk to you and answer question about tfmr if you decide that's your best option.

I don't want to speak for her but I'm sure disillusioned would happily answer questions on carrying to term and putting a care plan in place.

I'm so sorry 💐

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