1 in 2 chances for Down syndrome

[Whatiswrongwithmeffs86]

Currently awaiting Amino, been given 1 in 2 chance for DS. NT measurement of 4.3mm and high blood results. I feel like im waiting for the inevitable to be confirmed. Could you tell me your experience, good or bad, if you don't mind sharing? I have a long wait until 2nd January to get the amino and need to stop being so anxious.

I have a sibling with Down's syndrome. They certainly didn't ruin my life. Rather the opposite.
OP I'm sorry you are facing this. I hope everything works out the way you want. Ultimately if your child has Downs the decision what to do is yours but don't assume they won't have a full and happy life. There are no guarantees about the type of life or struggles any child with have, whether that have Downs syndrome or not.

I don’t think this thread is the place for a general debate when there’s a real person going through that right now and who may have to make an incredibly difficult decision. It’s very personal for her. Let’s not make her thread about her own personal circumstances and hers alone into a bigger debate that involve concerns that aren’t and shouldn’t be hers. She has to decide what’s right for her and her alone without being pressured to consider the bigger picture, no matter how relevant you think it is.

I hope that the amnio shows the result that you want, OP.

Hi OP, hope you're well. It's such a difficult time you're going through, I know I've been there. When I was pregnant with DS, we were told there was a 1in5 chance of him having Down Syndrome. We went for an amnio, and I found out on my birthday that he did have Down Syndrome. It was a massive shock and we felt extremely sorry for ourselves. I now realise, with a 5yo DS with Down Syndrome how I couldn't have been more wrong. DS was born with several heart defects, 2 holes and several leaky valves. However at 4 months old he had heart surgery and looking at him now, or even a few months after the surgery- you would never known he'd been so poorly. Yes, there is a a high chance of a heart defect, but many children with DS either have heart surgery early and it's all fixed or they end up never needing surgery as the hole gets smaller and almost insignificant as they get older/bigger. I also know a few children with no genetic differences who have holes in their hearts awaiting surgery (where the parents didn't know until they were born).

My 5yo DS with DS has been treated as if he can achieve and he has. He has had speech and language therapy and physio, he's now a very active little boy. He talks in full sentences, has a massive vocabulary, reads at a year 2 level (as he loves books), maths at year 1 level. But more importantly than all that, he is the absolute joy of our lives. Everyone he meets, he makes laugh and has this amazing ability to be positive in all situations. He has the most cheeky sense of humour, he makes me belly laugh daily.

A lot of the stories on here are of people with DS who are 40+. We know so much more now and early intervention is the standard. If you see a 40+ year old with DS, they wouldn't have legally been able to be educated in a mainstream school. If they were 50+, they may not have had an education at all. Medical sciences have come such a long way too, most physical issues can be corrected quite easily. The people who are 40+ with DS would never have been offered heart surgery as babies as they weren't seen as 'worthy'! Things are very different now, our kids with DS are showing the world how much they can really achieve if we just believe they can.
Down syndrome is not a spectrum as people say, but there is a higher likelihood that they may have other co occurring conditions that may make learning a little more delayed. E.g. They may have hearing loss or some visual impairment (both my DS and I have a visual impairment but we have adaptations that allow us to do everything 'normally'). Or they may have ASD that make their sensory needs more heightened. These things can occur in kids without DS too though!
After having a miscarriage and genetic testing, I found out to my massive surprise that I actually have a form of Down Syndrome called Mosaic Down Syndrome, where some cells have an extra chromasome and others don't. I had a speech delay when I was little and I have several physical issues (eye sight is poor, hypermobile etc) but I was able to go to mainstream and was treated like any other child. I disingaged at primary school and was told I would never achieve anything, but actually went on to do well in secondary (where the classrooms were quieter and calmer!) and then went onto gain a BA, an MA and a Post Grad from Oxford University.

I don't say this to make it sound like achieving high is the main aim for a child, because it's not. But I say it to make the point that a lot of what we think of when we think of Down syndrome is extremely outdated and the kids who are born today with it have so many more opportunities and support options than the adults with DS that we may know.

I highly recommend the charity Positive About Down Syndrome https://positiveaboutdownsyndrome.co.uk/

They also have an 'Expectant parents' group on Facebook (closed group) that is really supportive no matter which way you decide to go. I think they also have some free impartial therapists that you can talk to.

I also recommend the YouTube channel 'Attitude' which shows lots of families who have children with DS, just living their normal everyday lives. So it will give you a better picture of what to expect.

I hope that whatever the outcome, you can have some peace and enjoyment in your pregnancy, it's such a special time. Wishing you all the best.

Hi OP. I can see you’ve had a lot of replies and have now had the amnio so sending you so much love as you wait for the results.
I have had 2 pregnancies with ‘low chance’ results. Both typical pregnancies, usual scans and tests. Nothing of difference significantly noted on either pregnancy.
One of my children has an extra chromosome (T21 - Down syndrome) and one doesn’t. One of my children is really hard work, one isn’t. One of my children worries me every day about their future and what life will be like for them and one of them doesn’t. Have you guessed which way round it is? Yep! It’s my child without that extra chromosome that is causing me the most headaches and worry!!
My child with Down syndrome is the best thing that’s happened to me and my family.
What I’m trying to demonstrate is that we can’t predict what ANY child is going to be like, in childhood or beyond. We can’t predict what any child’s needs are going to be, extra chromosome or not.
Thankfully times have changed significantly since lots of the anecdotal stories some people have shared here and people (with T21 or not) have more opportunities and better access to health care and good education in the UK.
I would highly recommend reaching out to Down Syndrome UK www.downsyndromeuk.co.uk - (not to be confused with the DSA, Down Syndrome UK is a current and up to date pioneering charity supporting families and educating medical professionals).
They have a wonderful ‘Great Expectations’ group and is a safe space, whatever you choose to do in your pregnancy.

I have always said that had I known in pregnancy that my child would have Down syndrome, I don’t know what decision I would have made so I am thankful every day that I didn’t know because my life is all the better for having him in it! I do joke and say I would gladly have a 3rd child if you could guarantee another child like my child with T21, but if I had another child with the typical amount of chromosomes like my other child, I might not be so keen 🙈

I am 100% pro informed choice and making the right choices for you and your circumstances. Sometimes we don’t know what we can ‘deal with’ until we are dealing with it!

Wishing you so much love as you navigate this x

Thank you to each and every one of you for your replies. I have read every single one multiple times. Thank you for sharing your personal experiences and family experiences. It is helping me immeasurably.

I will definitely come back and update once we've had the results.They say it should be Tuesday.

For me, it's the uncertainty of the situation. I think once I know one way or the other, then It becomes a reality rather than a hypothetical, I'll be able to decide.

Right now, I am feel like I am in a catch 22, and neither decision feels right if the baby does have DS.

I fear for the future, my children, and how it would impact them.

I think if the outlook and severity could be quantified, then I would feel different, but it's the unknowing.

I also fear ( although I'm not reglious) that having TFMR would send me straight to hell.

I know many of you have been through this, and I appreciate your advice, knowing you got through it.

I 100% understand how you're feeling, I felt exactly the same and if we hadn't come across some of the resources we came across, we would have gone for termination and that breaks my heart. You have to do what is right for you, but I will say that there is uncertainty with any child, you never know what abilities/disabilities they may go on to have or even what type of personality they will have. As expectant parents we want to be able to know what the future holds but I guess that's one thing we will never know. We can only ever guess based off statistics for any child, but no one ever tells you how common it is for a typical child to have a heart defect, have glasses or a hearing impairment.
I will be thinking about you. Have a look at DSUK and PADS. Please reach out on here again if you want to chat more after your results on Tuesday. X

@sparklystars20 My DD with DS is also the least of my worries. I have three children. I'm also pro-choice but only when you have all the information available, so informed choice would be more apt.

Just read the whole thread and sending best wishes OP.
I hope you could put worries aside for a little bit and enjoy Christmas with your other two? Grab any distraction if you can, even if it's just for a moment.
Fingers crossed for next week.

I just posted in another thread but I was given a 1 in 6 chance of my daughter having DS. I refused the amnio because of the risks, but I did opt for the harmony test so that I could prepare myself...I was planning to keep the baby either way.

Anyway, harmony came back lowest risk and my daughter was born a few years now and she doesn't have DS or any chromosome or genetic abnormalities. It turns out the high NT level was caused by a mild heart and bowel condition which wasn't discovered until after birth. Heart is fine now and never needed any treatment. Bowel issue is ongoing but it isn't stopping her from being a happy, active 5 year old and living life to the full.

It was a rollercoaster ride of emotions during my pregnancy so I sympathise.

I’m sorry to read you’ve had this and over this time of year too. I had 1:15 chance for my second son, and also faced a quandry. DS1 was at the bottom of our family tree by himself (no cousins, probably no family at all after our days) and I wanted a sibling for him to hopefully be there for him. The possibility of his sibling having Down syndrome really threw me and I struggled enormous with what I would do with a positive result to the CVS.

the result came by negative for all chromosome abnormalities but I remember only too well the agony of the wait, the dilemma of what I would do, and so on. He’s 13 now and I still reflect on it sometimes. I really hope you get the news you want on Tuesday.

Sending all the support at this anxiety ridden time. I’m awaiting results from the NIPT test so at a slightly different stage to you but understand the worry and fear. The things you mentioned are all things I worry about too. Really hope everything comes back ok for you x

Thinking of you today OP xx

I'm thinking of you OP. Whichever way the result goes, please don't feel obliged to come back to this thread to.update us if you don't feel like it.

Who’s paying for that supported living accomodation though? The UK looks bleak and this government and others after it is in the process of reducing care bill. I work with adults with disabilities including downs. Currently working with a guy in his late 30’s who was high functioning but now has dementia and can’t remember his own parents anymore. His family are wonderful but I can see the pain in the wider family not to mention the suffering he’s going through. Adults with down’s are developing dementia now in their 30-50s. For a few years the trend of dying early was reversed but now after covid almost all care organisations are reporting the same thing post covid. Secondly if you continue with the pregnancy the resources are few and far between and Adult social care is the first budget to be culled as councils face huge balance issues. Be aware of the issues specially in England and Wales. Please don’t expect your other children to sacrifice their life for your decision.

My mantra is you should face every situation with all the information.

the world today is a lot more supportive world of adults with disabilities. So its your choice. I’ve given you my reality of what I have seen and experienced directly as working in care for the last 10 years.

Whilst a valid conversation, the OPs post really isn't the place to have this discussion.

@Floppyelf I agree with the comment above, this is not the place for such discussion and is very insensitive to the OP and their situation. I am not going to enter into debate for this reason, but I do wish to set a few points straight as you have made some inaccurate assumptions in your statement which should be corrected so that you don't cause unnecessary worry or distress.

The "trend of dying young" as you so insensitively put it, is not a trend. The current life expectancy for a person with DS is age 60 and above. In addition, it is accurate to say that SOME adults with DS develop dementia, just like SOME adults without DS do. Please familiarise yourself with the facts and don't make blanket statements, it's unhelpful and potentially damaging. Just because you work with some people who have the condition does not mean that your information is current, and judging my your comment I'd say that your training is in need of updating. If you wish to look into this there are a number of national charities which provide training to people working with individuals with Down syndrome.

I think @Floppyelf was just being realistic and stating some facts, she works in the field and knows her stuff. Because she says the opposite of "my friend has a Downs baby and she's a delight" etc etc and goes against the general grain doesn't mean her point isn't relevant. Why should she feel the need to sugarcoat her words?

But her "facts" were not factual, I don't need to get into an argument about that, a quick look at the Down Syndrome Association or Down Syndrome U.K. websites will confirm this. I'm not suggesting anyone should sugarcoat anything, just that facts should be exactly that, factual. Not the viewpoint of someone who may have worked with a couple of people with the condition, that's opinion, not fact, and it's important to differentiate between the two.

This is a horrible situation for anyone, sincere sympathies that you're going through it. Just to give a wider context, they test for Downs etc because they can. But the lottery of pregnancy means that any baby can still have special needs that don't show up on any test or scan such as autism, epilepsy, cerebral palsy etc. etc. Even with a positive test the range of needs varies so much with Downs they can't predict how significant their additional needs will be. Special needs children bring many challenges but also a lot of joy. Only you can know how that would work in your family dynamic. The best of wishes to you.

Thanks everyone, still waiting for the results. They said today, but there no call yet. I'm guessing maybe tomorrow now.

I don't know what to make of it. If anything, results are probably not back yet are most likely. They did say to expect them Monday/Tuesday, so I have been anxious today waiting.

Oh bless you - try not to read anything into it. Maybe think if it was hard to deliver news, they’d want to get that to you sooner rather than later. No news is good news kind of approach,

the waiting must be so hard though, and another night with it on your mind when you expected to have answers now sucks.

Hi OP. Yes I remember the wait was awful. I was also 1 in 2 and I remember the wait. I got my results just before Christmas. That was 15 years ago now and all was fine. I hope the same for you.

I think I am now resigned. What will be will be, and no amount of anxiety or worrying will change the outcome. DP and I have spoken in great depth about what we would do, and he worries greatly for the impact it would have on our children, what it would mean financially, and emotionally. I think we are leaning towards a TFMR if the baby does have DS. I know that may not be right for everyone. I do struggle with the thought of that, but I'm not sure the alternative is any better.

I actually know, it's a little girl too, for some reason, knowing the sex of the baby makes it seem worse. ( I already have a girl and a boy, so it's not that the baby is a girl)

You need to do what is right for you and your family OP. I was in a similar situation (1:12) a long time ago and the wait for the amino and then results was excruciating. Mine fell over Easter so dragged on for what felt like a very long time.