Confirmed Down syndrome - what to do?

[impossibledecision25]

I am 43 and this is my first pregnancy. We went though IVF to get to this point. We had several early scans that all looked fine at 6,8 and 10 weeks. However, we got to our 12 week scan and the nuchal fluid measurement was 6.5mm. Our initial screening came back as 1 in 2 for each trisomy. We then had the CVS test which confirmed our baby has Down syndrome.
My partner and I now feel like we have the most difficult decision to make. We want to be fully informed and so are doing a lot of reading. There are a lot of positive stories online but I guess the reality is we don’t know how what the full impact will be for our baby and what additional needs and co-morbidities they might have. We’re also thinking about what happens when we’re not here, especially as we will be older parents. And will be both still be able to work. But the thought of ending a much wanted pregnancy and a life feels so hard.
i guess I’m wondering if anyone has been in a similar position and has any advice?

I ended up having amniocentesis at 35 as my blood results came back high risk. I knew that I wouldn’t continue with the pregnancy if the result was positive and I suppose looking back I became very distanced from the pregnancy whilst waiting almost 4 weeks for the result.
The thing is, only you can decide what to do. You can speak to hundreds of people and all will have a different viewpoint. All I will say is, focus on this pregnancy, not the journey you took to get pregnant. Take care x

I'm so sorry you're having to make such a hard decision. I wouldn't know what I'd do in this position honestly xx

Yep.

I don't feel the same way either but can completely understand why the poster does feel that way.

and of course she can share that anonymously.

I was a special school HT and have worked with many children with DS. It varies so hugely in terms of ability and levels of independence. I’ve worked with teenagers with DS who could independently do their own personal care, prepare simple meals etc and would be able to do some voluntary work or even paid employment such as assisting with cleaning or restocking in supermarkets, although they would not be able to live fully independently. At the other end of the spectrum I have worked with children with DS and who also had other conditions such as autism - these children are non-verbal, always require total personal care support, and often use wheelchairs and need a lot of physio/OT input as well as specialist SALT and other therapies, and this will remain the case for their entire lives. Also there are physical health conditions which are more common with DS, such as heart conditions and visual and hearing impairments.

You need to factor in that the baby/toddler years are likely to be more straightforward (although with more difficulties in terms of feeding to be expected, plus the possibility of heart surgeries etc) but then as the child grows up, things become more complex - and you’ll be in your 50s/60s. If you consider how well you think you could cope with caring for a profoundly disabled young adult at that age, then that might help you make your decision.

I’m so sorry you are experiencing this. What a hard decision. As a parent of a child with significant additional needs I would echo the other posters who have warned you what this will cost you personally should you choose to go through with it. The strain on your marriage, friendships, health and well-being is hard to
even put into words. A previous poster summed this up saying she had forgotten who she was. I note you mention concern for your career. This will be the first thing to go if you have a child with significant needs. Friends may be supportive for a short time but as the enormity of the situation becomes apparent it will become increasingly difficult to sustain as you are consumed by the demands of caring for a child with serious health needs. You will spend every moment of your life caring for them and fighting health/ education/ social services to get them the care they need. It is unbelievably hard and heartbreaking and will probably end up being your burden to carry alone as your marriage unravels. This is my experience. I would suggest you carefully consider what you are prepared to sacrifice and go into it with your eyes open. Sending love whatever you choose xx

I agree, as a special need parent I fucking hate it.

I personally knew when I was pregnant with dd that a Down’s syndrome diagnosis or any diagnosis for that matter would have made me terminate. In my mind a baby is a baby and there’s no guarantees that even a healthy baby won’t go in to develop health problems.

I also know someone who terminated two pregnancies because of DS and then went on to have a child who is non verbal severely autistic…

Only you know what would be worse ie potentially never having a child vs having a child with a disability.

Did they suggest genetic testing before the implantation? (PGT-A test)
Only you can make this difficult decision. X

Hi
my results were one in 20 for downs for our son. When he was born he had physical characteristics of downs; however they had to do a blood test to test for downs which which took 4-6 weeks to come back . He don’t have downs, but was very fussy to feed and I knew there was something different. He’s now 12, has autism and mild learning disability and goes to a SEMH school . Very verbal, wicked sense of humour and a heart of gold . I couldn’t imagine a life without him.
he has only slept independently for last 18 months and is very emotional , still struggles to cut his own food, do up zips containers etc .
he will make a huge impact on the world because he’s bloody awesome !
my career has been on hold up til now as schooling has been tricky, and child care for children with SEN is hard to source . That said , he’s one of 6 children, 4 are ND and I wouldn’t change them for the world .

I’m so sorry you’re having to go through this.

you need to think of what your life will look like in years to come. The reality is you’ll be in your 60s looking after what will essentially still be a child. Can you both cope with that? You need to think about your life more so than your child’s right now because ultimately you will be a carer from here on.

I suspect you wouldn’t have had the tests done if it didn’t matter to you so perhaps deep down, you know what your decision would be. We had an amniocentesis with our last baby, we knew the risks of having the test but we did it anyway knowing a difficult decision would have had to be made if results were not normal. It’s a very personal decision and no one can tell you what is right or wrong or how to choose. Good luck and hope all works out.

Indeed. Being prepared gives you time to get your head around and it adjust if you choose to proceed.

OP, take your time and consider all options. As an older mum myself, I can see where you are coming from.

My friend had a baby with DS when she was in her 20s. No signs during her pregnancy or in prenatal scans. Her daughter is now 18 and totally blooming. A beautiful girl who has brought her family so much joy and love. She is lucky she doesn't have any health conditions that many DS children do have and that is of course a consideration. You could consider contacting a local Down Syndrome advice or parent support group to meet other parents and listen to their experiences before making any decisions. I'm not taking away from the challenges it will bring and how life won't be how you thought it would be, but if you want a child, then in my experience, there are many worse things that could be wrong with your baby than DS.
Wishing you luck with your decision and for the future.

my one year old had a post natal diagnosis of down syndrome and he is an absolute dream. If you had talked to me a year ago I would have been a very different person. I am still scared of the future and there are so many unknowns, but that’s having children to some extent, in some ways are know more about his likely development then others with a seemingly typical one year old. He was incredibly ill at birth but this has brought the whole family closer together, rifts have been healed over the magic of this little boy. And his dad and I are close on a whole new level. It won’t be easy, but I guess having kids isn’t, but the support has been phenomenal from professionals and friends and family. Please look up positive about Down syndrome and speak to their pregnancy diagnosis team. I am so pleased I didn’t know before as having to make a choice sounds so hard. But my little one is full of joy, he’s babbling, standing , just ate a huge egg sandwich , trying to walk and on Saturday we are off travelling for a month because WE CAN and to celebrate how far we have come. If you go ahead your baby will be your baby and you will love them and still do all the things you dreamed off, some maybe done differently now but lots won't , and I appreciate we are in the early days of this and it may get harder. But this is our life now and it can’t be changed, so we are going to live it and love it!

I have said to people in this situation previously that your DC won't necessarily have the life you anticipated for them, but they will bring you joy in ways you never dreamed possible.

My DS has a different, very rare syndrome, but has several friends with Down Syndrome, and we are very much all part of the local special needs community. It is undoubtedly a different sort of life, but I have met all sorts of people that I never would have met, and have made friends for life with other parents.

The young people with Down Syndrome that we know take singing, dancing and acting classes, have performed in music videos, play football, attend youth groups, earn qualifications (to name just a few things) and generally live very full and happy lives. Not to say that bringing up a disabled child is easy, of course it's not, but each milestone and each achievement feels all the more special.

Noone but you and your partner can make the decision, but I would urge you to learn as much about the syndrome as possible before making a decision.

Join DSUK - Positive About Down Syndrome there's a pregnancy fb group. We found out our youngest had down syndrome during pregnancy at 12 week bloods. We were met with some really awful and clinical stories which make you question everything. However, our son brings so much joy and love to everything and makes us appreciate everything we have. I work with children with SEND and understand that there are lots of different comorbidities that can impact their health. Our son has hearing loss and he also had hydrochepalus in pregnancy but that settled. He communicates well and enjoys everything his older brothers enjoy. We use makaton which he is great at using and we are a part of a new wider community of families with shared experiences.
For us our son is amazing and wonderful and enriches our lives but it is definitely a very personal choice and I researched and questioned everything during pregnancy to make an informed choice. It was an emotional and hard pregnancy. I just felt so exhausted by it.
I'm so glad we chose to meet our youngest son else I'd have always thought what would he have been like and if I took advice of medical professionals I'd have missed out on having time with our wonderful, happy and social little boy.
It is your choice to make but knowing how hard I struggled to be pregnant I couldn't abort our child.
DsUK positive about down syndrome groups have been amazing for finding out in a supportive community of others with lived experiences. I'm in leicestershire and we also have a local group that is supportive too so it may be your area has something similar.

Side point but I always find the phrase "I wouldn't change them for the world" an interesting one.

Maybe it's more applicable to learning disabilities, perhaps they're more integral to the personality that you know and love. But with conditions that just cause pain and stops you doing fun stuff... not sure what I'm saying but I feel like it's a phrase that gets said a lot about people with disabilities but it's absolutely ok to wish you yourself or your kid didn't have a disability, especially when you have to watch them suffer. I doesn't mean you love them any less to say it.

I know character building yada yada yada but character is over-rated.

I would terminate but wishing you luck whatever your decision .

I know a lady who has a downs DD, and although she loves her dearly and wouldn’t change anything about her, she couldn’t honestly say if she’d of known she was downs she would have opted to kept her. She also has said that if she was faced with another pregnancy and was aware that the child was downs she would opt to keep it, knowing all the difficulties that they face. The decision must be yours and your husbands alone. Good luck with whatever you decide. It will be the right decision for you.

Apologies if this has been answered but is there any prenatal test to ascertain the severity? I had the highest result for downs with my dd so I had a period of time (before my negative cvs result) to think about what I was going to do were it downs. I decided reluctantly I would terminate because I didn’t think I’d be able to cope mentally and didn’t think it fair on her to have a parent that couldn’t cope. I was much younger than you though, and had I been your age the decision would have been that much harder.

I had my last baby when I was 42. I paid for nuchal fold test as it wasn't available on the NHS at the time. The results with blood test came out at about 1 in 500 probability so we decided the odds were in our favour and didn't have more invasive tests. Dd3 was fine. I was worried about the chance of miscarrying through the tests and she was very much wanted. If the probability was more than one in a 100 I would have had further tests and considered aborting (thankfully that wasn't the case). Mostly because of how it might have affected my other 3dc.
Do you have other viable embryos? If so could you have pre implantation screening? Wishing you all the best with your decision.

I don't agree that by having the tests means you know already.

We had an amniocentesis because we wanted to be informed prior to birth what the outcome would be. Some types of diagnosis can impact birth for example and it maybe safer to choose a c section up front.

We also wanted to be as informed as possible on what our babies needs would be so we could prepare as a family for them.

The risks do exist but they are very small and they are still gathering data because it's believed many of the losses that occur after the CVS/amniocentesis would have occured anyway due to the baby having other complications.

I think it's unfair to assume someone has made a choice already based on choosing to have diagnostic testing.

"When I had no children I imagined that I might keep a pregnancy with Downs syndrome. Now I have children and I know how hard it can be to raise a child who doesn't have additional needs, I wouldn't even consider continuing a pregnancy in those circumstances. And if that meant I stayed childless, so be it."

Exactly this, after having a child i know I couldn't take care of a child with additional needs, and could potentionally never live an independent life as i got older.

Unfortunately, I was in the same situation two years ago.

We tried to have a child for two years before we became pregnant (early to mid 30s). I have CKD and high blood pressure, also low AMH so it was a miracle. We had already decided before trying that we would not continue if the child was seriously ill. We knew that we would not be mentally, physically or financially capable of raising a child in such a situation or if we had to find ourselves there, it would most probably break us.

At the 12-week scan, the fetus's neck thickness was normal, but other indicators gave a 1:2 probability of Down syndrome. Unfortunately, this suspicion was confirmed in the form of a rare mutation (that a NIPTY test would have given no indicator). It was also suspected that DH had a genetic disorder which meant that all our DC would have DS, fortunately this was not true.

We spent days researching the possible outcomes, which have already been mentioned - the child may have mild mental difficulties, but the condition is more likely to be much worse, and in severe cases, they will spend a lot of time in hospital and/or die young.

So with heavy heart we TFMR at 15 weeks. The autopsy found that the child was relatively healthy physically but it doesn't tell about the mental difficulties.

To our surprise, I was pregnant a few months later. The HCG test results were extremely high and tripled every other day, which is why I was firmly convinced that this child also had DS. However, the 12-week test gave a rather low probability and the amniotic fluid test confirmed that the child was healthy.

DC had to spend a few days in NICU and also in the hospital several times in the first months. Fortunately, these were minor health problems that have now been overcome, and DC is reportedly a healthy one-year-old. This was a very hard time for us as (first time) parents and to be honest the first 9 months in general weren't a plain sailing. We do love our DC to the moon and back but being a parent is hard even if the child is "normal". I can't imagine what life as parents with DS would have been like for us.

I'm glad we were given the opportunity to become parents, but even if it hadn't been that case, I believe we made the right decision for us to TFMR. Only you can decide what is the right decision for you.

Name changed for this , I had a termination at 19 weeks. No regrets, there were multiple disabilities involved you have to know your limits.