Down’s syndrome diagnosis - looking for hand hold

[IVFWarrior40]

Hello, I have just found out yesterday that my baby has been diagnosed with Down’s syndrome. I am nearly 14 weeks. I’m so confused as the scan at 12 weeks looked fine. The nuchal fold was 2.9mm but the sonographer didn’t seem concerned at all.
Then I had my bloods done. My Papp-a was 0.46 mom and hcg 3.57 mom. As I’m 41 and an ICSI pregnancy this brought our risk down to 1 in 5.
I didn’t want to risk an invasive test so had the Harmony blood test and got the results yesterday - 99/100 chance baby has T21 which is pretty definitive.
My world came crashing down. I assumed that because my scan and bloods were all within normal range that everything would be ok. How wrong I was.
I’m booked in for a cvs tomorrow to confirm the diagnosis.
I’m going through every emotion right now and not sure what I am asking. I guess Im just looking for people who may have been through something similar. I feel very scared and confused and not sure what to do.
Please don’t judge but I’m considering a termination as I’m not sure it’s a path we as a family can go down. I’m just so scared of what this entails.

I'm so sorry you are going through this. I'l happy to offer a hand hold.

Can you talk about how you are feeling with your partner?

I'm so sorry you are going through this. It is just devastating. I thoroughly recommend ARC-UK for non judgemental support and information.

Before being in this situation I thought I would keep a baby with Downs. But we didn't. For me personally I couldn't bring my baby into the world who was already very Ill (in our case) and if he survived the chances for a good quality of life were limited. I say this as someone who knows several people with Downs.

There is no right decision here, only the decision that's right for you. Lots of love to you.

Don’t put pressure on yourself OP. You and your partner need to be able to make the decision together once you’ve searched out the information you need. It’s such a huge decision either way and has to be the right thing for you individual situation.
I hope you get the real life support you need

Best wishes OP, sending love to you all

You have to make the decision that is best for you and your family. ARC are brilliant.
I've been in a similar position (low chance of Down's throughout pregnancy, all scans including 20 weeks scan were fine) but our son was diagnosed at birth. He also had significant heart issues and needed open heart surgery at 14 weeks. That first year was a massive roller coaster, lots of hospital appointments and grieving for his and our future and worried about the impact on his siblings (two older, one younger)
But DS is now 10 years and he is the most amazing little boy and I wouldn't change him or our circumstances for anything. We are lucky, his disability has little negative impact on our lives- I work full time, we do everything every other family does- holidays, hobbies etc. DS does to an amazing special school. Medical appointments are infrequent.
But Down Syndrome is a spectrum and I have a few friends who do find life more challenging.
The Down Syndrome Association has good resources and there are often good local support groups.
Ultimately you've been given (a very hard) choice, but it is a choice. Make sure you get some support and look after yourself.

Thank you all for such kind and helpful responses.

Christmas21 - thank you. Yes my husband and I are very close and this has definitely brought us even closer together. I think we are both on the same page in terms of what we think is best. Just need to look into it more really. xx

SylvannianFrenemies - thank you so much for your kind words. I will definitely take a look at ARC and will probably give them a ring this afternoon. I’m so sorry to hear you have been in the same situation but I’m glad you were able to make a decision that was right for you. I just hope we can make a decision that’s right for us too xx

Lancssss - thank you so much. I’m going to ring ARC and go from there. We’ve just started to get our heads together to start researching so I’m sure they will point us in the right direction xx

OysterCatchersPaddling - thank you, that means a lot xx

The4Seasons - gosh that must have been a shock for you when all your scans were fine. What a lovely post to read though. Your son sounds an absolute joy. I wasn’t even aware that Down’s Syndrome was a spectrum disorder. It just goes to show how little I know. I suppose there’s no way of knowing how mild or severe a child’s symptoms will be until they are born. I will have a look at the Downs Syndrome Association website thanks. xx

Feeling a little brighter after a terrible nights sleep and crying a bucketful of tears. Currently doing a jigsaw to keep my mind occupied and looking forward to seeing my 3 year old daughter when she finishes nursery. I feel so clingy with her at the moment like I don’t want to let her out of my sight. I really miss her when she’s not here. ( more so than usual) I guess I’m just going through some strange emotions right now.

@The4Seasons

You have to make the decision that is best for you and your family. ARC are brilliant. I've been in a similar position (low chance of Down's throughout pregnancy, all scans including 20 weeks scan were fine) but our son was diagnosed at birth. He also had significant heart issues and needed open heart surgery at 14 weeks. That first year was a massive roller coaster, lots of hospital appointments and grieving for his and our future and worried about the impact on his siblings (two older, one younger) But DS is now 10 years and he is the most amazing little boy and I wouldn't change him or our circumstances for anything. We are lucky, his disability has little negative impact on our lives- I work full time, we do everything every other family does- holidays, hobbies etc. DS does to an amazing special school. Medical appointments are infrequent. But Down Syndrome is a spectrum and I have a few friends who do find life more challenging. The Down Syndrome Association has good resources and there are often good local support groups. Ultimately you've been given (a very hard) choice, but it is a choice. Make sure you get some support and look after yourself.

What a beautiful compassionate post. Sending you strength @IVFWarrior40. Whatever you decide, it’s what is right for you and your husband.

CVS or amniocentesis (more the latter) are the most accurate test you can do.

Bloods have their flaws. If the scan looks normal, then a sample is only way to confirm any abnormalities.

Best of luck

No one will judge you, the decision is very hard and it’s such a shock.

I had a 1:30 chance of downs but my harmony was low risk. In between the high and low risk results I had a range of emotions, from why is this happening/ we can’t cope to we absolutely can do this. DH didn’t agree and wanted to terminate if we had a positive diagnosis. For me, downs is very different to Patau and Edwards (the only major conditions that are screened for), and is a spectrum as has been mentioned above.

Having said all of that, this is YOUR choice. I would really recommend speaking to Arc. In those interim days I also read a lot online. Caterina Scorsone (from Greys Anatomy, which I love) has a daughter with downs, and such a positive outlook.

PS before you decide, are you going to do a cvs or amnio to confirm diagnosis? Blood tests can be wrong.

I hope tomorrow goes as well as it can do.
I’ve no judgement and you’ll find with decisions like this you’ll get understandable skewed responses from those who terminated and those who didn’t. Those who didn’t can’t imagine their child bit here and see that rather than the decision. I would choose the same as you and choose it as an act of love for my child.

No judgement here OP. I wish you all the best for your cvs tomorrow and strength to make the right decision for your family.

Second speaking to ARC who are fantastic. We had a t21 diagnosis after fertility treatment. We chose to terminate and it was the right decision for us.
Take care

Don’t feel guilt OP - nobody has the right to judge you, it’s very easy for other people to say they would do X or Y when they know they’ll probably never be in that situation. Best of luck to you

I feel your pain

This was me 10 years ago (almost to the day). As others have said get in touch with ARC. The support I found on there from other women in the months after we made our decision helped immeasurable.

It is YOUR decision and nobody will judge you. Please don’t be hard on yourself. It’s the most painful decision.

I understand why you are considering termination. You may well meet people who will judge and say Down Syndrome isn't a terrible diagnosis to live with, but nobody knows how affected the child will be until the child develops. Yes, there are many positive examples of life with a child with downs, but there are many less positive too, they just don't get the attention the sparkling stories do. My uncle had Down syndrome. He lived until age 50. He mentally never developed past about six years of age, and he required huge amounts of care. He couldn't ever live independently. Some people with downs live a lovely life. Lots do not. And their families have to live a completely different kind of life in order to accommodate. That is something that some people are prepared to accept and some people are not. That isn't a reflection on how good a person you are. It's brave to admit you can't and kind to decide not to carry on with a pregnancy when you know you're not going to be the kind of person who accepts that degree of huge change in your life. That's ok. Take some time to consider it, find out more about downs and what life is like outside of social media posts and feel good media stories. For some people, it's not even a question either way. But for most, there is much to consider and you shouldn't feel rushed or persuaded either way.

It is your decision what you choose to do. Completely and absolutely and no one can make the decision for you.

I would however encourage you to confirm the diagnosis as I worked with a woman once who was told it was almost definitely Downs Syndrome and was considering termination. Turned out to be a twin hiding behind the foetus on the scan causing the elevated levels from blood test. Thankfully this was discovered through confirmation and waiting and she gave birth to two happy and healthy boys.

I am in an incredibly similar position. I am 18.5 weeks pregnant, have been given a 1 in 5 chance of downs syndrome and the lab ruined my NIPT samples so who knows from that. I'm going for an amnio this week. I also relate to the clingyness around your little one, I feel so overprotective and just want to cuddle my 2.5 year old constantly. I wish he would sleep in my bed again just for a night!
It's really really rubbish. It feels so unfair and it's really affecting me bonding with the baby. Ive found out more about what an abortion at this stage would be like to prepare myself. We didn't get any statistics about Edwards or pataus first time either so I have no idea what is happening in my own belly it's so alien. I just want to reiterate how utterly poo this is for us both. It helps me when other people have acknowledged that at least.
Sorry you are in this position. Message me if you would like to chat.

@HashtagSexy

I understand why you are considering termination. You may well meet people who will judge and say Down Syndrome isn't a terrible diagnosis to live with, but nobody knows how affected the child will be until the child develops. Yes, there are many positive examples of life with a child with downs, but there are many less positive too, they just don't get the attention the sparkling stories do. My uncle had Down syndrome. He lived until age 50. He mentally never developed past about six years of age, and he required huge amounts of care. He couldn't ever live independently. Some people with downs live a lovely life. Lots do not. And their families have to live a completely different kind of life in order to accommodate. That is something that some people are prepared to accept and some people are not. That isn't a reflection on how good a person you are. It's brave to admit you can't and kind to decide not to carry on with a pregnancy when you know you're not going to be the kind of person who accepts that degree of huge change in your life. That's ok. Take some time to consider it, find out more about downs and what life is like outside of social media posts and feel good media stories. For some people, it's not even a question either way. But for most, there is much to consider and you shouldn't feel rushed or persuaded either way.

This ^

For us it wasn't so much the 'burden' on us but not wanting our older dd having the responsibility after we had passed on. We made the decision as much for her as for us and our unborn (much loved child).

It was incredibly painful and I did feel people would judge us. The reality was of the people we chose to tell the response was overwhelmingly supportive and understanding.

The truth is our unborn child was incredibly small and with the passage of time and more clarity, we realise she probably wouldn't have survived gestation or would not have had much quality of life.

There is so much support at ARC before you need to decide. They will make sure you have all the information you need. Only YOU can decide what is right for you and your family but please don't let guilt come into it. There is no wrong in this situation.

Bekind2yourself has a very good point in relation to the family impact. I know from a friend’s experience the impact this can have on the siblings and for us, this was one of the drivers on our decision. I also didn’t think I could cope with the prospect of our baby not surviving gestation or having a very very poorly baby.
I think about our baby daily, she would have been our only girl in amongst a family of boys. And even in my darkest of days, I know we made the right decision for all of us. Arc were incredibly helpful but you’ve got to decide what’s right for all of you. Such an awful and devastating time but give yourself time to process this. I wish I’d spent more time considering NOT having the termination but in truth, even if she made it to full term, our baby would have been very poorly and as sad as it is, it was the right thing for us 😢😢 Sending lots of strength and courage to you.

Ultimately you've been given (a very hard) choice, but it is a choice. Make sure you get some support and look after yourself.

My experience has been v like @The4Seasons. The first year was hard but it’s become a lot easier / more normal since. We also had a shock postnatal diagnosis and so I haven’t been in your position and wouldn’t dream of passing judgement. You will make the right decision for you and your family and I say that with no prejudgement as to what that decision might be.

Do your research but remember that no one else’s story will tell you your future - and that’s true regardless of numbers of chromosomes. Seek out a range of sources to help, ARC, the DSA, Positive About Down Syndrome.

In terms of the spectrum: around 10-15% of people with DS have more complex support needs (eg a dual diagnosis of autism and DS). Most have mild to moderate learning disability. Education, better understanding of the learning profile of DS and improvements in medicine has made a huge difference to the lives of people with DS in recent decades so do think about how up to date info you are getting is. That’s not to say that some families have a challenging time, but more and more people with DS are living rich lives.

Sending lots of love and care. Be kind to yourself xx

I'm sorry . Hugs and hand hold.

You've had a terrible shock; but in a few days you'll start to get your bearings and feel better able to plan what you want to do.

Deep breaths, take your own time.

So sorry you are going through this.

As PPs say, don't put yourself under pressure. Let it settle, you have time to decide. It's great you and your partner are a strong team. If you feel you need more information, go and get it and take time over it.

Ultimately your first duty is to the family you already have, so if a termination is right for you, there is nothing to feel bad about. You will be sad of course, but there is no need to feel guilty.

I'm a sibling of someone with Downs, she's older than me. She's the light in my life. She's guided me all of my life and is probably the person closest to me on earth. I'm so thankful for her. We live together, she's a brilliant Aunty, really close to my kids, especially my teen. She adds only good things to my life, truly.

I'm sure it is a lot to hear and to process if you have not known anything about it before. The older generation were not given the chance to flourish as other children did - there is, broadly speaking, a really big generational difference due to educational opportunities, better professional knowledge & advice and so on. Looking at the older generation as a template for the life of a child now is not a good match, things have changed a lot.

A person with Downs cannot be defined by that extra chromosome. There are, of course, some commonalities but it doesn't provide a type of ability or personality. My sister is really like my grandmother in terms of personality and looks.

The Downs Syndrome Association have a helpline for people in your situation, pretty much every parent there went through your shock so know what it's like.

The sibling part of me feels excited for your daughter. I feel excited for you and send congratulations to you all. I appreciate you may not feel this way. Wishing you all well

All the best wishes in the world, OP

Make a decision that works for you and your family; no judgement at all here. For some people going ahead is the best choice; for others ceasing the pregnancy. Both are the right choices depending on your situation.

Huge sympathy for having to work through this.