Down Syndrome Diagnosis

[Crazylady1]

Hi, I am looking for people that are or have been in the same situation as us. I am 14 weeks into my 2nd pregnancy and had confirmation last week that our baby will be born with Down Syndrome following a harmony blood test, we were given a 1 in 5 diagnosis that prompted us to do the further testing that lead to a confirmed result.

I have a DS aged 8 with a different partner that was conceived following 7 years and 5 attempts at IVF.

So to conceive naturally was unexpected but a wonderful surprise for us both , this is my partners first child.

Our initial reaction was that we would continue with the pregnancy, however we are now unsure and bouncing between continuing and terminating .

I am 39 and my partner is 41, while we know that we would love, adore and support this child if we continued with the pregnancy, our biggest fear is when the child gets older, how will we cope in our 70's with a adult with disabilities? (if we last that long!!!) We don't want my DS to feel it his responsibility to care for his sibling and we also don't want to be dependant on society but we are a standard family with an average income.

While we know that Down Syndrome Adults can lead independent lives with minimal support it all depends on the severity of the disability and we have no way of knowing the severity of the disability until birth. We have decided that we want to have the 20 week scan to see if there are any further problems that can be detected ie heart / bowels, but even then it will not be conclusive. I think it 's the fear of the unknown, I have spoken to 2 families. 1 has a Daughter aged 13 who is mildly effected, however they said if they had known they would never have gone through with the pregnancy which surprised me as they adore her, another was a distant relative who has a 48 year old Down Syndrome male who leads a fulfilling life but still lives at home and requires assistance like showering and personal care and they would not change a thing... My partner is very supportive and we are talking but he is struggling as am I, We would never judge anyone on the decision they make in this situation, however been in this position we feel lost and know that only we can make the decision for our family. We have spoken with the consultant who is putting us in touch with further families and I am researching as much as I can but how on earth do we make this agonising decision??? any advice / guidance that can be offered would be greatly received. Thanks a Mummy in turmoil

[ohlittlepea]

I can only speak of my own experience. As the family member of a person with downs syndrome, I can say for me he has brought me so much joy which has far far out weighed any hurdles we have had to face. I think altruism is underated and suxh a huge bringer of happiness. We enjoy looking out for him. There has also been lots of support along the way.
Useful resources are the Downs syndrome association, Downs side up blog and the Sally Phillips documentary 'a world without downs' which you can watch via youtube.
I would be a little careful in talking to families who have children with Ds if your consultant puts you in touch with them, I think it would be ok to ask about challenges and things but I'd never ask about termination..after all it is not something you would ever ask about a genetictypical child.
I hope you find some useful resources and infornation which help you to make a decision, sending hugs at this time of turmoil.
pea xxx

[junebug121]

Hi OP, first of all I'm sorry you're going through a difficult time.
I was given a 1 in 13 chance of Downs earlier in the year but we then got a low harmony.
However, before I got the results I did a lot of soul searching because my older sister has Downs and I just wasn't sure what decision I would make.
My sister is 39 years old today and I would say she is fairly severely afflicted. Luckily we have been spared some of the physical issues such as heart problems etc but mentally she is quite a conundrum.
So she obviously has the learning disabilities associated with Downs but also autism and had a psychotic episode at about 7. Ever since then she has been on medication which largely controls things. However, it has meant she doesn't have some of the loving personality traits that characterise so many people with Downs.
I don't say all this to scare you but to say that you're right to give it serious thought and it isn't a straightforward choice.
What I will say though is that I wouldn't change her and despite my experiences before the Harmony results came through we had decided to keep our baby.
No one knows what challenges even babies with normal chromosomes are going to present as they grow. You can't diagnose autism or other mental/personality issues prenatally.
My sister lives in sheltered housing, 20 mins away from my parents and 30 mins away from my brother and me. She is home every other weekend and for holidays. My parents are in their late sixties and as they get older we will naturally take on more responsibilities but that's part of being a family and I don't see it as a burden.
Sorry that was a bit of a ramble. I guess I am saying no one has a crystal ball, you just have to make the right decision for you and your family now. Whatever you decide you will all adapt x

[Winteriscomingneedmorewood]

As an only dc I would have rather had a sibling with ds than no sibling and don't siblings look out for each other regardless?

[ElChan03]

Only you can make that decision. But living in a family with a child with severe autism and other learning disabilities it is incredibly challenging. I would be mindful that if you do have a child with ds to be prepared to make extra time for your existing child and make sure they have access to young carers etc. As there can be a massive impact on siblings. Some siblings take up the challenge and support the child with learning dis. However in our family the older child is not remotely interested and resents the younger child immensely. That being said people with ds are lovely but will require care and support their entire lives. This could mean sheltered accommodation in the future or you being a carer until you gone. The future of government funding for learning dis also seems to be patchy and you cannot guarantee a place in residential care in the future.
I wish you all the best with your decision and regardless of the implications I'm sure you would have a fulfilling and happy life with that child.

[Mumtonoah5]

Are you on instagram? There is a great lady called dontbesorry2. She has a little boy with DS and she I'm sure she would be able to offer advice.

[danTDM]

Oh goodness, how hard. I am afraid, as my DH is much older than me, I worry constantly about DD (9) being an orphan if anything happened to me.

The older she gets the more relieved I feel. I was very ill two years ago and my only thought was 'how will DD cope'

I wouldn't, for this reason go through with it as I would worry about the future and what would become of my child when I was no longer there.

I also think it would be unfair to your existing child, sorry. My DD categorically does not want a sibling and she is the same age as your DS. She REALLY doesn't. I don't speak to any of my siblings, they are horrible! So I wouldn't say that siblings look out for each other regarless they really don't. Plus they would be alf siblings.

Also, think of the impact on your marriage,there would be one.

Best of luck in your decision OP. I hope I have not offended anyone in my opinion.

39 is no age, my sister just had her first baby at 46!

[danTDM]

Sorry, my keyboard keeps dropping letters.

[Farawayfromhere]

We were so worried about the effect on siblings when we discovered our baby had a serious genetic condition, which is more severe than Down's syndrome, but in fact it has made us a stronger family unit and has taught the siblings to be kinder and more tolerant of difference. We have a happy family and a good life, although a child with additional needs does bring challenges at times. Knowing what I know now I would absolutely go ahead with a Down's syndrome pregnancy. Your child would probably prefer to have a sibling than not to have one given a choice and will almost certainly just accept that their brother or sister is a bit different. There are so many unknowns in the future anyway I don't think you can plan for when you're 70 either way.
I wish you the very best of luck if you do decide to go ahead and I don't think you'd ever regret it. But I also completely get your worries and only you can decide at the end of the day. Try not to be frightened of the unknown though. Everyone is different anyway in life.

[SandysMam]

This sounds really glib, but what's to say a "normal" baby won't grow up to have a life changing condition requiring care, or be a drug addict or have mental health problems? Nothing is certain in life.
It is a very difficult decision though but the I can't say "sorry" you are going through this as the children I know with Down Syndrome are the light of people's lives and there is nothing there to be sorry for if that makes sense. But that might not be because they have DS, might just be because they are fab iyswim.
I hope you come to a peaceful decision.

[Crazylady1]

Thank you all for your comments and views we really do appreciate it, Getting other people's perspective on how they have and do deal with a person who has a disability is helping us. I can say that yesterday and today has been better than the last week and while we are still very upset about our result, we are dealing with our situation more positively and with an open mind. We know that it is not all bad and the more research we are doing the more informed we feel. My DS is a very loving and caring child and I know that he would love and treasure his sibling no matter what.. He is aware that the baby has Down Syndrome and his response was " it Just makes him (he wants a brother) more special". Mumtonoah5 , I do not have a Instagram account but my partner does so I will get him to contact dontbesorry2 . All thanks once again for your kind words and insight into your situations it is helping more than you can ever know xxx

[imjessie]

Hi , I'm currently sitting on the sofa with my ds who is off school . He doesn't have DS but does have a genetic condition which presents in a similar way . Whilst I adore him , life is tough , he has very limited speech and has fairly severe learning difficulties . My dd was 7 when he came along and it was a very difficult time . 6 years on we are still working on our relationship because my son was so demanding and difficult . We also had the rollercoaster of diagnosis which I guess you won't have . My fears are exactly the same as yours but they are very real . Who will look after / fund my child into adulthood ? I've also had to fight to get him into a decent school and for funding and pretty much everything ..it's tedious , tiring and stressful ... I am adamant he won't be my dd's responsibility so that isn't an option . She needs to live her life too as far as I'm concerned ! ... he really is the most beautiful , empathetic , kind , funny little boy and I am glad he is here but had I been a crystal ball I'm not sure how it would have turned out ... one final thing is the media has very much rose tinted downs but it is a spectrum and yes some are amazing but some have many problems which can't be picked up on a scan .. good luck with your decision.

[lauryloo]

My little girl has a different genetic condition and a lot if her friends have Down's syndrome. I can see the absolute joy they bring.

My uncle also has Down's syndrome. He is just shy of 50 and lives in sheltered accommodation. He's really happy and has a very full life and social calendar.

It is tough having a child with additional needs, but so so rewarding too. And it's amazing how much peer support there is.

Good luck op x

[curliegirlie]

Sarah Roberts writes Don't Be Sorry, which is also a Facebook page, so you can have a look at it there if you're not on instagram. Her 5 year son with DS, Oscar (who has two younger siblings) seems a fantastic little boy. She writes about their life, but doesn't sugarcoat, and her FB posts have helped me a lot since having my dd.

I'm only 2 years into this game, we found out postnatally, but I can tell you she's an absolute joy and doing so well (crawls and cruises everywhere - and just starting to briefly stand unaided). My dd is lucky enough not to have any associated health problems (although we struggled at breastfeeding and first - hard to imagine, now she's still going at 2!) but even her little friends who have had to go through heart surgery etc. are also doing brilliantly, and getting there in their own time.

Do have a look on the resources page for new/expectant parents on the Down's Syndrome Association website. They're fab.

[curliegirlie]

Good luck in your decision, whatever you decide! The future is a bit scary, but I guess that's the same for any child. I'd do it all again in a heartbeat, and can't imagine life without dd, but I recognise it's a very personal decision and you need to do what's right for you.

[Kaffiene]

Hi I am also 14 weeks pregnant with DC2 and 42 years old. Obviously we have recently been through 12 weeks scan and all the tests etc. We have been doing a lot of soul searching and thinking about difficult things. With my age we were very aware of the higher risk of DS. Our situation is slightly different in that DD1 is 9 and has a physical disability. She has a lot of disabled friends and well as NT ones. Although we know some children with DS the majority of kids we know have disabilities which can't be picked up before birth or in the case of DD caused by her birth. There is such as range of issues and challenges for each and every one of them. It feels kind of unfair for children with DS, almost like their disability has been picked on if that makes any sense. Because DS is easy to test for everyone gets hung up on it when there are so many more disabilities which could just happen anyway. It makes me feel weird looking at DD1 and thinking if we had known about the difficulties she would face would we change anything? Not sure if I am making any sense but I think we would have gone ahead with this preganacy even with a positive DS diagnosis.

[imjessie]

I agree @Kaffiene , my son is a swan ( not sure if your dd is ) but it sort of makes me raise an eyebrow at some of the threads about ds because frankly it's the least of anyone's worries really . Some of the genetic things that don't get picked up are much much worse . For us we had a cvs and we're told our baby was fine so at least if you have an invasive test you know either way for sure !

[soontobe6]

Hi OP. I really feel for you in your distress and confusion. I am also an older mum, 44 when our beautiful boy was born and he was postnatally diagnosed with Ds.
At first we were devestated. Worried for him, mourning the loss of dreams we had for him and desperately worried how he would impact our ability to look after our existing children.
However he is now 8 months and he is an utter joy. We would not change him for the world. It is hard to put into words what a blessing he is but he wakes up smiling and he just radiates pure love.
He has some developmental delay, he was slow to gain head support and had feeding difficulties at birth. He is thankfully free from bowel and heart problems.
We have regular physio and more hospital appointments than his siblings. But he is rolling and commando crawling at 8 months so we are very pleased with his progress.
His siblings adore him. Rather morbidly my teens have argued about who gets to look after him when we die. They all want him , I not so naive to think this is a given or will actually happen but I thankful they don't resent him.
My 6 year old is puzzled when his brother is referred to by other people as disabled, he just sees his brother, a chubby rolling chap who squeals with glee on his return from school and blows big raspberry kisses if he is sung too.
I fully appreciate some children are much more affected than my boy. I also have great compassion for parents who choose not to continue with Ds pregnancies but for me and my family we are so blessed with our boy.
More than happy to talk about anything regarding life with my boy.
Sending you family big prayers and virtual hugs as you reach a decision. X

[curliegirlie]

Wow soon to be 6 - commando crawling at 8 months?!! That's incredible - what a clever little boy you have! My dd was about 13 months I think. Enjoy him, he's amazing!

OP if you do continue with the pregnancy, the Facebook group "Future of Downs" is also brilliant, a great resource of parents of kiddies with DS of all ages on hand to offer advice, support and celebrate all those proud parent moments we have 😊

[Aderyn17]

My advice is to look at your financial situation and how you would plan for worst case scenarios.
Tbh I would steer clear of the Sally Phillips stuff - her child is not severely affected iirc and she is well off, which does cushion her family from some of the harsher realities. We live in a society where the gvt is cutting funding to many services - will you have the means to support your child with no state support, if it came to that?
Sorry to bring this up, but are you married to your dp? I'm sure he is lovely but if he did turn out to be flaky and you have a child with additional needs, how would that work out in terms of you working? I would not advocate you being a sahm if unmarried unless you are wealthy in your own right. Sorry, I do feel a bit shitty bringing that up but I do think it is important.
Your older child will be affected - you cannot discount that.
Having said all that, thr decision will likrly come down to how you feel and there is no right or wrong. But my advice is to look at worse case scenarios and plan for that. Assume your child will need the most care and go from there.

[ZoetobeMum]

Sorry to hear about your diagnosis. I found out 2 weeks ago i am expecting a baby with DS and a heart defect so i know how hard the decision can be. I have been backwards and forwards on whether i am being fair on the baby to keep them. We have decided to continue with our pregnancy after overwhelming support from our families.

I can't really offer any advice, all i wanted you to know is you are not alone in making the hard decision. I found the best thing was speaking the midwives and hearing other peoples stories on here.

I wish you all the luck and best wishes with whatever your decision maybe.

[UnderTheF1oorboards]

ZoetobeMum, so glad to hear your family is supporting you . Keep strong, lovely, everything's going to be just fine.

OP, my DS1 has T21. I which I had known in those scary days when he was first diagnosed; when I felt like I was the butt of a sick joke; when I had no idea how I could raise him; how inconsequential T21 really is. It's just one part of him and he is just like me or DP in so many ways. Nearly 7 years on I couldn't be happier with my lot and I don't worry about his future any more than I worry about NT DS2's.

Yes the sibling will be affected - in a good way. 94% of siblings are proud of their brother or sister with DS and 88% think that they are better people because they have an affected sibling. Linky to study. The only difference in outcomes for siblings of children with disabilities is that they are slightly more likely to choose to go into a caring profession. My own DS2's teachers have reported he is much more compassionate and emotionally attuned than they would expect for a child of his age. He loves his brother and they have a totally normal relationship.

There is a lot of bollocks spouted about severely/not severely affected. The physical issues are random - most people with DS only have a small handful and these can be non-events like underactive thyroids or long sight. I think you're talking about the learning disability though. That's a bell-curve. A few individuals will never be independent. A few get university degrees. The majority, including my DS1 are about in the middle and can achieve just fine with the right educational techniques and input. They will end up capable of working and living independently or semi-independently. Educational techniques, attitudes and interventions have moved on light years in the last couple of decades. It's not rocket science, but getting it right is really important.
This is a great website to get you started. You can go too far of course. DS1 is slightly obsessed with phonics and spelling to the point where he spells the names of objects he wants rather than just saying them .

FWIW, Sally Phillips' son is not a particularly mild case but he has had the right therapies. This does NOT have to cost loads of money and there is plenty of help out there. You will get Portage for free from about 6 months old and many local parent support groups run early development/therapy groups either for free or very heavily subsidised. DS1's SN pre-school place was free. We have paid for some extras but his DLA covers it. Now he's in school - mainstream - his EHCP ensures he gets all the help he needs to thrive. You can doom-monger about gvt cuts if you like, but as long as parents know their stuff legally (It's not complicated and IPSEA will help you with that) you will get what your child needs.

Aside from mat leave I have always worked (just landed a new FT job, in fact, and I told them at interview about DS1) and we don't have a nanny or anything. T21 does not have to mean taking a financial hit.

Good luck! It won't feel like it now, and you probably won't believe me, but you've won the lottery x

[Msqueen33]

I don't have a child with ds but I do have two dc with autism. My middle child at the moment copes quite well. My youngest is very affected and finds the world incredibly hard. I love both of them but if I had a crystal ball and had known about their disability I'm not sure I would have had then. I feel awful saying that but it has completely changed our lives. I worry a lot all the time. My youngest has no speech and is very much in her own world and a lot of the time very unhappy. I worry for all my dc and if they will have a full and happy life but I do worry a lot more for my younger two.

[Crazylady1]

All,
Once again I am overwhelmed by all your posts and comments. I am not responding personally as I am all over the place, and truthfully just don't know what to say. However, I want to thank you all for sharing your thoughts and experiences with us and your support. It really is helping. xxxx

[SleepFreeZone]

Crazylady I lost a child with DS in pregnancy. I also lost a child with trisomy 18 recently but that child had no chance of a life. I think in your situation I would probably have the baby. However just be aware that some children affected with DS are severely affected and won't make it to 40 weeks. For some reason I assumed that all DS children were born, but sadly not.

I think you are right to wait until 20 weeks and have a thorough scan where hopefully they will be able to give you an idea of how your baby is affected and you'll be better placed to make a decision.

Hand holding 💐

[Dolwar]

I personally would opt for a termination if my child had Downs.
Aside from the worries about family life and the effect, there is no way we could cope with the health implications and financial issues it would bring.
There has been so much positivity about Downs recently, with child models etc etc which is great but these are individuals at the less affected end and I think they skew people's perception.
As a doctor I've seen children with downs with horrible heart defects go for major major surgery Sutton a few days and then spend weeks stuck on a ventilator in PICU. Then theres the ones with Hirschprungs who come in every few weeks with their tummy huge and with terrible sepsis.
Once your over that you've then got the increased risk of leukaemia. Aside from the medical problems there are the learning difficulties and behavioural problems - I've been spat at and punched by a boy with downs.
I couldn't do it but hats off to those who can and do.