Continuing a Pregnancy with a lethal diagnosis

[TheDisillusionedAnarchist]

I am 23 weeks pregnant and sadly it was confirmed yesterday that our baby has Edwards' syndrome (trisomy 18). We had already known that he or she had a very complex cardiac defect, a small brain anomaly and a possible diaphragmatic hernia so we had partly anticipated this.

We both are committed to continuing the pregnancy, termination just doesn't feel like the right option for us, though I can completely understand how it does for many people. I wondered if there were others out there who had or are continuing a pregnancy with a lethal diagnosis and how they are handling people's questions and ideas about birth plans when you are not sure if the baby will be born alive or not and how long it may live.

Thought I would post an update just in case anyone is still interested. I am now 28 weeks and still pregnant! which feels good.

DD remains on the 3rd centile line, her heart seems to be improving and we have done a lot of research. The evidence that an active treatment plan for trisomy 18 improves survival is overwhelming and we are fighting hard for her to be managed like any other baby by the neonatologists and cardiologists. We are however encountering a lot of resistance.

We want to give her the best chance possible and we are exploring all our options. I would highly recommend the International Trisomy Alliance for anyone else wanting to explore the research base for treating babies with Trisomy 18. SOFT UK and US have also been useful.

We are keeping an open mind, stillbirth and prematurity and early neonatal death are all still very likely outcomes but the possibility she will survive for months or even years with very severe disabilities is something which now also feels like a real outcome and we can only hope for this. Just taking each day as it comes.

That's wonderful news. 28 weeks really boosts her survival rate if she is premature.

I have heard a lot of research coming out of the U.S. that says fighting for a 'normal' care plan does extend the babies life.

Have they given you any more idea of what her difficulties might be? I know that our dd2 had such server brain deformities (gaps and parts missing in her cerebellum and big cysts) that she would never have been able to self regulate her breathing, that with the holes in her heart gave her personally an almost zero survival rate even if born alive.

It sounds like your dd has slightly different issues, maybe they can be dealt with once she is born.

Thank you for updating, I've been thinking of you guys a lot recently and really keeping my fingers crossed that you get to meet you dd alive

Hi OP, I'm late to the conversation but just wanted to say I carried my son to term with Edwards Syndrome. He was born by caesarean at 38 weeks. I understand some of how you must feel and if you'd like to talk, you can PM me and we can even talk on the phone. My heart goes out to you.

Thanks for the update op. Thinking of you and your precious dd

Thanks for the update. How are you all doing now?

Sorry just realised there were some more replies. I am now 31 weeks pregnant and baby girl is still growing well and getting stronger if her kicks are anything to go by.

We are still encountering a lot of resistance to treatment and it is is a constant fight. We have found a supportive neonatologist but not locally. If anyone knows of a supportive neonatal unit in London basically any neonatologist that will listen to parents we would love to hear about them.

We have 4+ appointments a week at the moment. Echo scan tomorrow so hoping her heart looks better still apparently common with trisomy babies to start with dire echos then improve so far that's the pattern with dd.

Gaspard- sorry to hear you have been through this too and I missed your post. Will pm you.

Glad it's going well

Disillusioned I am so sorry you are going through this. You are so brave. There is an Irish website called everylifecounts.ie which you might find helpful. It tells the story (among others) of an amazing girl Elaine Fagan with Edwards syndrome who lived to 25. She really raised the awareness here in Ireland.

I have only just seen this and only briefly skimmed over the thread but I just wanted to let you know that I have been there. At my 20 week scan my DD was diagnosed with a fatal foetal abnormality and because I'm from Northern Ireland we had no choice but to continue with the pregnancy. My DD was then stillborn at 35 weeks last May.

I will come back later and read the thread properly but please, please feel free to PM me.

Hi OP, I've sent you a PM.

Hi
I just wanted to update this thread, my beautiful daughter Rumer was born today at 39 weeks weighing 1.93kg.
She breathed spontaneously and we had an hours skin to skin before she started desatting so in line with agreements we had made with the hospital she was ventilated but she is maintains good sats on room air on ventilator which is excellent.
We are about to start the roller coaster that is life with a t18 baby but so far cautiously optimistic. Everyday counts. I am sitting in Nicu expressing for her, so in love with her.
Labour was a long induction followed by just 10 mins from 3cm to birth. She was ready!
I'm

I'm hoping I've attached a picture of her in Nicu. Thanks to everyone who offered me advice and help on this thread. I may now be name changing as throughly outed.

She is absolutely beautiful op congratulations!

I wish you all the best of luck and strength for whatever's next on your journey along with some unmumsnetty hugs xx

Just found this thread on Active Convos and while I haven't been through anything like what you all have, I just wanted to say congratulations and that Rumer is absolutely beautiful. Well done and good luck.

Congratulations in her arrival, she is gorgeous, and I wish you all the very best for the coming days, weeks, months, years ahead...

Congratulations! A beautiful name for a beautiful baby. You've done so well and should be so proud. I wish you love and strength for your journey together

She is truly a blessing x thinking of you all and hoping you get as much time as possible with that little angel xx

Oh she is gorgeous. Congratulations

Congratulations, your dd looks beautiful.

Hi OP - I'm so sorry to hear your sad news for you.

A few months ago I came across a very moving blog post written by a lady in your position. Her daughter was diagnosed with a terminal genetic disease at a routine scan. They decided to continue with the pregnancy and enjoy what little time they had left with her as a family.

They took photos of her growing bump, had a full pregnancy photoshoot and talked/sang to the baby. When her daughter was born prematurely, she held her and stayed with her while she passed away and for hours afterwards, just for bonding time. They also had the services of a free photographer with the charity Now I Lay Me Down To Sleep.

You can read about her daughter Aila Jane Walker here: againstallgrain.com/2014/07/02/aila-jane-walker/

She has since gone on to have another, healthy pregnancy. Good luck OP, once again I'm so, so, so sorry.

Congratulations! Rumer is beautiful and such a little fighter. Enjoy her, enjoy that amazing rush of love and know there are many, many strangers wishing you all so much love.

Congratulations OP - what a beautiful little girl! And such a lovely name too. Wishing you the very best with your precious new arrival

Thanks for sharing the picture with us.

Congratulations she's beautiful

Rumer is a lovely name and she's so beautiful!

Congratulations op... Just to say I have been in a similar position to you where my dd was given no hope for survival, and sadly at 25 weeks she was stillborn. I have found your posts emotional and very beautifully written. Your dd is beautiful, and has a lovely name. I was always very dad that did died before we got to hold her. I hope you are able to keep your lo very close to you.

Congratulations. I wish you the best for whatever time you have together.