Baby Diagnosed with Edwards Syndrome

[tallla]

Hi All,

Following a high risk result from our initial NHS combined screening test for Downs/Edwards/Pataus syndromes, we opted for the NIPT test, which yesterday confirmed our baby had Edwards syndrome.

I'm still in the process of working through my emotions (I'm feeling totally crushed right now), and guess I will be for the next few weeks to come. DH and I spoke yesterday about what we'd like to do, and I know this isn't right for everyone but we're confident a termination is right for us. We've decided to have a medical termination, and I was hoping that someone might be able to give me any advice (if it's not too painful to discuss), or just information about what's to come, physically but maybe also emotionally?

I feel like this is maybe a lot to ask but I just feel like I need more information if anyone is able to help.

I've read lots of the resources on the ARC website and plan to give them a call soon.

Thank you xx

[incrediblehux]

I'm so sorry you're going through this. I don't have any experience to share, but I'm waiting for NIPT results at the moment and expecting bad news. Do look after yourself.

[tallla]

Thank you so much for your message @incrediblehux. Best of luck with your NIPT results, I'm sure they'll come back with good news xx

[tallla]

Sorry @incrediblehux I didn't mean for that to sound flippant (as I don't know your circumstances), I meant I have my fingers crossed for you and hope all goes well xx

[Nanmumandmidwife]

@tallla what very difficult news for you to deal with. I am so sorry. Edwards is a horrid condition.
Have you seen a specialist midwife yet? There will be a midwife responsible for the screening programmes in your hospital and a bereavement support midwife - both of them will be able to talk you through the process involved and make the necessary arrangements for you.
If you want to ask specific questions privately please do PM. I have held both those specialist posts and am happy to help if I can.

[QforCucumber]

@tallla so sorry you are going through this, I had a TFMR in April due to a terminal diagnosis at 13 weeks, I opted for the surgical procedure but have also had medical management in the past for a missed miscarriage so please, if you have any questions do ask away. I did find the Surgical much easier to deal with personally as I was under GA and it was over with without much physical trauma within 4 mins.

[QforCucumber]

40 minutes - not 4!

[M0nkeybutler]

This happened to a friend of mine a few months ago. Went for NIPT testing, was told her child had Edwards. She booked the termination and just days before having the termination decided to have the amniocentesis as well, as it seemed now there was no need to worry about the chance of miscarriage if she was having a termination. The results of the amnio came back that there was nothing wrong with her baby at all. While she had him early via c section as she had pre-eclampsia, she now has a perfectly healthy little baby boy. I would urge you in the strongest possible terms to have the amnio as well.

Please please check out these websites:
nuffieldbioethics.org/blog/nipt-private

www.bbc.co.uk/news/stories-47150878

The bbc one is not my friend by the way.

I send all my best wishes though for whatever you decide to do, you must be going through hell right now.

[Frenchw1fe]

Sorry you're going through this.
My friend had a baby with Edwards syndrome, over 35 years ago so not screened.
It's a testament to my friend's care that her dd lived until she was 3, which wasn't expected.
She was always very small, floppy and difficult to feed.
My friend and her dh had a difficult time as you would but did go on to have three perfectly healthy children.
Only you can decide what is best to do.
I wish you well with whatever you decide.

[Nanmumandmidwife]

@tallla. Can I just check that you are not making a final decision based on the NIPT result? That is a screening test only and there are a significant number of false positives.
You should automatically have been offered an invasive test prior to making a final decision
I assume you have had this, or at least the offer, but just wanted to be sure as I know that many places present the NIPT result as though it was certain. It isn’t.

[tallla]

Thank you so much for all your comments and advice. This feels like a scary time and it's nice to hear from others who've had similar experiences.

@Nanmumandmidwife I have seen a screening midwife but I don't think I have met a bereavement midwife yet. Perhaps I will see one when it comes to having the procedure itself? Thank you for the offer to PM, I will take you up on that if that's ok (although I've been reading MN posts for years this is my first time posting so just need to figure out how to do that ).

@Nanmumandmidwife and @M0nkeybutler thanks for your notes about the possibility of a false positive. I'm having an amniocentesis tomorrow morning, just to be absolutely certain.

[tallla]

@QforCucumber and @Frenchw1fe thank you for writing about your experiences/ experiences of your friends.

@QforCucumber it's really useful to understand your choices, I think I'm still working through how I want to do things. I'm thinking to go down the medical route right now, but I'm not totally certain.

@Frenchw1fe it's comforting to hear your friend went on to have 3 healthy children after having a baby with Edwards syndrome.

[Bouledeneige]

Dear OP

I just wanted to reach out in care and support for the difficult time you are going through at the moment. There has been a lot of good advice here about getting an amniocentesis before making your decision.

My own experience was different - my first baby died in the womb at 17 weeks from Pataus syndrome - so the decision was taken from me and I had to give birth. It was a very difficult time and I was devastated. The care I received was very kind and I did go for a counselling session and speak to a few friends who had faced similar experiences. The baby's life would not have been sustainable beyond a few days so nature took the right decision.

Given it's a random chromosomal abnormality like Edwards or downs there was no reason not to try and get pregnant straight away. Which is what I did. 3 months later I was pregnant with my now beautiful DD19. I think I was more nervy through the pregnancy - particularly at scans but it felt good. My DD would not have existed if my first pregnancy had not failed.

I wish you well and am thinking of you and your partner.

[Herocomplex]

Thinking of you, I went through testing 20 years ago but remember the feelings so well. (Had CVS which was normal, but had extensive scanning for cardiac abnormality.)
I felt like I was existing apart from the rest of the world while it was happening. Hope you and DP can support one another. Best wishes.

[SylvanianFrenemies]

So sorry you are going through this.

I really recommend the ARC helpline for both practical info and a listening ear.

I had a tfmr earlier this year for Downs and multiple abnormalities. I had a medical at 18 weeks. I think how it goes will depend how far along you are and if you have given birth in the past.

This was my third and for me delivery was straightforward, pain no worse than period pain (not the case for everyone). For us, it was not an entirely negative experience and we were well supported by midwives.

Obviously there have been incredibly sad and painful times. Knowing about my baby's physical abnormalities and having seen him has been a comfort as I have felt reassured that we have s pared him pain and suffering.

Have a think about if you might want time with your baby after delivery - midwife or doctor can advise on what to expect. We were given the option of a funeral but went for playing some music at his cremation - you may be given choices around what to do (is whether to have the hospital sensitively dispose of your baby or whether to have the baby released to you). I have kept the some keepsakes from our time with baby in hospital, you might want to explore this.

This was what worked for us. Everyone is different.

[avocadoincident]

@tallla
I hope you have positive news at the amnio today.

Whatever the outcome life will go on for you even though it might feel overwhelming at the moment.

Mumsnet has been a great source of support for me recently as there's always someone here who has been through what you are going through and will understand and offer advice and knowledge. You aren't alone.

[sweetheartyparty]

I'm so sorry you are going through this. I went through a medical termination at 15 weeks due to my baby having a condition incompatible with life.
I found the procedure initially painful but was managed well with methadone so dont hesitate asking for pain relief.
One thing I was unprepared for was how I was handled by the staff at hospital; I was so touched by it. They asked if I wanted to give him a name and if I wanted to see him. I didn't but I have since regretted it. I had a lovely bereavement midwife and was gifted a memory box which I cherish. They also arranged a funeral for us at no cost.
I felt incredible relief as soon as it was over but the grief took a few months to subside.
My thoughts are with you and your partner.

[sweetheartyparty]

Oops not methadone, I had pethidone

[WishUponAStar88]

I’m so sorry you’re going through this op. I have no personal experience but sending you love

[Seaandsand83]

I'm so sorry OP. When will you find out the results from this morning test?

[Winterdaysarehere]

Fingers crossed for a happy result op.
My dd showed nuchal test as high risk of DS. She was born without it..

[Bouledeneige]

I hope it goes well OP. Thinking of you.

What I love about Mumsnet is the compassion that is expressed by others who have been through similarly difficult and painful times. The responses here demonstrate a wealth of sympathy and advice.

I hope you won't need it and the outcome is better than expected. But if not, a couple of thoughts...

I was asked if I wanted to see my baby or have a funeral or whatever. I opted not to. I have never regretted it. From what I gathered from the very subtle midwives' response, I think it would have been hard as my (Patau's) baby may have been hard to see (or unsee). Obviously I am trying to express that sensitively. Another thing that mattered very deeply to me was how scans were handled in my next pregnancy and being in a different birthing suite for the birth of my (next pregnancy) daughter.

So what I'm trying to say is there is no right way - it's what's right for you. You still grieve and acknowledge your loss.

One thing one of the midwives said that I found comforting was 'we all have an allotted time on earth and for some it's long and for some - like your baby - it's very short. Their life is still loved.'

[tallla]

Hi everyone,

I'm just on my way home after the amnio, and I just wanted to say that I read all your messages while I was eating breakfast, and again whilst I was waiting to be seen before the amnio.

I am totally blown away by everyone's compassion and I can't tell you how comforting your messages have been today (for DH too).

The doctor saw some soft markers for Edwards on the scan before the amnio (I think cyst on the brain and possibly small head circumference).

I will reply to people individually when I get home and I'm not using my small phone screen but just really wanted to thank everyone so much.

[incrediblehux]

Today must have been really hard for you. I've been thinking of you. It sounds like you've been getting some good support. Look after yourself

[tallla]

Hi @Bouledeneige , I love what the midwifes said to you ('we all have an allotted time on earth and for some it's long and for some - like your baby - it's very short. Their life is still loved.'), it made me cry a little bit. It's so true.

I can't decide whether to see and hold my baby, I think I might do, but I can totally see where you're coming from. I think I will speak to the midwife about it. Thank you for highlighting this though.

To be honest it was hard to see the baby during the ultrasound today, wriggling around and looking fine (to me).

Congratulations on the arrival of your healthy daughter. Right now I'm not sure whether I will be able to try again (I'm not sure I mentioned this but I have a DS who is 4, and it's been a journey to get to this point), it's good and comforting to hear you managed to get pregnant again though.

[tallla]

I'm so sorry for all the suffering you've all had to go through. I can't tell you though how this thread has helped me.

@SylvanianFrenemies Thank you so much for this information, it prompted me to have a chat with the midwife today about releasing the baby to us, photos and keepsakes etc., which I am glad I had. My DH also was comforted by how you said you didn't find it a totally negative experience.

@sweetheartyparty I am absolutely terrified of the process that will happen next week but I have already been so grateful of how amazing all the staff at the hospital have been. Thanks for the note too on pain relief.

@Herocomplex I totally agree - I feel like I'm in a bubble right now and everything around me is just passing me by.

Thank you again everyone for your support.

Could I ask how you guys managed work? There's no way I'm in the right frame of mind right right now to work, and imagine I will need some time after the tfmr next week to recover. How did others manage this?