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

I had a high risk nuchal scan with DC2 pre harmony and had to wait for an amnio.

In the waiting time DH and I decided we'd terminate if positive. I'd worked in a school and seen the impact of a sibling with DS on a child. He was needy because the sibling with DS needed so much attention from his parents he had to fight for attention himself.

And the parents looked exhausted from all the stresses and strains. There didn't seem to be much joy.

I was 37 at the time and didn't know if I'd conceive again but we'd rather DC1 be on only if necessary.

As it happens DC was found not to have DS so we didn't need to terminate but we would have if necessary.

Dolwar, as a doctor you will also know that the risk of leukaemia for people with DS is less than 3%; that those who do get it have a better recovery rate than the typical population, and; people will DS almost never develop solid tumour cancers. The cases you are talking about are a tiny minority. Do you know how much work and £££ is going into combatting misconceptions and negativity by the medical profession regarding DS? If you really are a doctor then shame on you.

Yes, someone needs a place on the DSA’s “Tell it Right, Start it Right” sessions I think....

If that’s the typical attitude of someone in the medical profession then no wonder the termination rate is so heartbreakingly high.

I found out a week ago that I’m pregnant with my second and tbh am scared of what my midwives and doctors are going to come out with regarding “risks” (chances, people, chances!) etc. I’m hoping to have a Harmony test or similar to hopefully preempt a lot of the frustrating conversations.

Damn straight.

One patient punched you and spat at you. Totally unacceptable, clearly, but where do you get off using that one instance to support an assertion about the whole population with DS? My DS would never in a million years do that - he thanks every doctor he sees even when they've hurt him. Would you go round making generalisations about black people if one black patient assaulted you?

You can piss off with that doom mongering about finances and family life too. Both mine are grand, thanks. The DS parents I know all work and generally have a jolly nice time.

Curliegirlie, congratulations! FWIW, the doctors were great when I was pregnant with NT DS2.

UndertheF1oorboards thanks, that’s very reassuring. I hope I’m being paranoid and people will be lovely, but between the way dd’s suspected diagnosis was delivered postnatally (reeled out a long list of potential medical issues, none of which actually occurred, mentions of ‘dysmorphic’ characteristics all over my postnatal notes 😢) and the stories I’ve heard on Future of Down’s FB group do make me a bit nervous.

And a million likes for your response to Dolwar. Grrrrr! And we’re both working and financially fine thanks. Not as well off as some, but that’s the civil service for you 😉

OP If you’re on Facebook, do also look at the ‘Don’t Be Sorry” page, written by a mum of a lovely 5 year old with Down’s, her posts are very honest about the challenges, but show that family life is still pretty much family life ☺️.

Flame me if you like but this is my experience. Statistically small population yes but it still happens. I am in no way saying that all patients with ds are like that but people need to be aware that this is a possibility. The majority are happy lovely children.
As you are completely unaware of my broader financial circumstances, believe me when I say we couldn't cope. Congrats to those who do.
Until you have seen the same patient come through a&e every few weeks screaming in pain and having to have a tube put up his behind every 6 hours and him pinned down to do it do not judge. He is traumatised every time and is institutionalised. Our opinions are based on our experiences and I'm glad that none of you have had to do and are what I have in the name of medicine.
I don't need to go on any course thanks, are you seriously suggesting I would colour people's decisions in the work place with my opinions? Ask me professionally and I will give you answers based on statistics. Ask on here and I'll give you my honest experience based opinion.

Fistbump, Curliegirlie

Dolwar, allow me to try more articulately. You said, "There is no way we could cope with the health implications it would bring" then you said "Statistically small population, yes". The vast majority of people with T21 are healthy or their health problems were very fixable. DS1 has an underactive thyroid, long sight, and a heart defect which needs monitoring but no treatment - that's it. Would you terminate for that? Would you even terminate for a heart condition if it could be completely fixed by one lot of surgery, as most of them are? Yes there are some serious conditions which are more prevalent but that is a very small subset. The problem we face is that fear of those serious conditions overshadow all our children when the reality is that most of them rarely bother the health service.

No I'm not aware of your broader financial circumstances. The important point here is that T21 does not deliver a financial hit any larger than having an NT child. I do not know anyone in our community whose finances have suffered because of their child's disability. They go to mainstream childminders, mainstream nurseries, regular schools, the usual after-school activities. Don't forget we get DLA (probably about £350 per month, sometimes more) and some will get Carers Allowance. If you are suggesting that anyone considering what path to take with a T21 pregnancy should give significant weight to finances in their decision making, that is an erroneous and mendacious suggestion.

I'm the parent of a child who gets pinned down for treatment. As a doctor, I'm quite sure it's so much worse for you than it is for the families. Next time DS1 needs a thyroid scan and has to be held stock still for 13 minutes by six people with me at the head end trying to tell him it's ok I'll remember to check my priorities and comfort the doctors.

Yes you do need to go on that course. Doctors spouting statistics and totally ignoring the real, meaningful, joyful lives beyond them is exactly the problem. There is a whole world of T21 outside your hospital which you clearly don't see. I'm completely pro-choice, but a choice exercised on the basis of misinformation and prejudice and extreme worst-case scenarios is no choice. Moreover it's deeply misogynistic - women must be totally at peace with whatever choice they make and assertions like yours serve to feed fear which women might later see through then regret their choice.

Your experience is a very very tiny part of a huge picture. Maybe add that as a disclaimer if you ever have to counsel prospective parents.

Just to redress the balance of Dolwar's supremely negative post, I would say this to the OP. It sounds like yours is a much wanted pregnancy, so please don't terminate on the basis of T21 alone. Like others have said, I am completely pro-choice, but also have a 4 year old daughter with a (post natal) diagnosis of ds. The fears and worries we had have turned out to be unfounded - truly; yes she has a learning disability and a few mild health issues - a small hole in the heart that has now almost closed (no treatment needed), glasses for long sightedness and large tonsils that will probably need to be taken out at some stage - but none of these are 'exclusive' to kids with ds, and at most they have caused a few extra appointments and a small amount of worry (but I worry about all of my kids!). And it's not just that we've been 'lucky' with her - this is the reality for the majority of families I know with children/young people/adults with ds. Yes for some there are more issues and more complex needs, but that is true of all families - some face more difficulties than others. None of us have a crystal ball, none of us know what the future holds. But I do know that there is nothing about our life now that would make me think terminating the pregnancy (had we known about her condition prenatally) would be the better course of action - and her siblings would completely agree. I honestly think that if most people could walk in our shoes for a few days they would feel the same - there is nothing about us that makes us more able to cope than anyone else, there really is just very little we have to 'cope' with, iyswim. Sorry for the waffle, I hope some of it is of use OP, Please do follow up links to the dsa website and also blogs like 'don't be sorry', 'Downs side up' and 'the future's rosie'.

I think it is such a difficult decision to make that hearing others stories can help but ultimately is yours to make.

I work with people with learning disabilities and see a huge range of people although the people we see do tend to be the ones with more severed disabilities because of the nature of our service.

For families their loved one with a disability can be a real blessing and positive addition to their lives but can also be the source of a lot of worry and concern. Most parents are able to work if they choose to but are reliant on health and social care to provide support and the quality of this can vary hugely.

I do think there are many around to promote the positives and of course that is great but I do think that campaigns / programmes like Sally Phillips has been involved with are a good thing but there is also the balance of people who have struggled and would not make the same choices.

Hi @Crazylady1 I hope you’re doing ok. Here’s a new website that’s just been launched that will definitely be worth a look at and I hope it reassures you positiveaboutdownsyndrome.co.uk

Hi all, thank you for all your comments support and truthfulness based on your experiences. it really is helping. We have still not made a decision, however we are feeling more positive then we did following the original diagnosis. We have continued to read up on T21 and also spoken with 2 lovely families who we were put in touch with via the hospital. Thank you for the recommendations of sites and pages to follow I have joined them all and finding them useful. We have our 20 week scan on Tuesday and from there hope things will be clearer in our minds. I will keep you all posted and thanks again to each and everyone of you xxxx

I have to painfully and with a heavy heart agree with Dolwar

I spent yesterday in the police station acting as appropriate adult for sibling.

I love him but it's soul destroying.

I think one thing that makes it difficult is that ideally a balanced perspective would include people of all ages with DS. But the problem is that many adults won’t have had the benefits of modern therapies (even with the spectre of NHS cuts going forward) so perhaps could have had more opportunities and advantages than they do. BUT speaking only to parents of very young children is also not a full picture - society is most receptive/welcoming/understanding of small children with additional needs. When those children grow into large teenagers/adults society is sometimes much less welcoming. The perspective of adult sibling carers is important too.

Wishing you all the best for tomorrow. I'm a couple of weeks ahead, both with the pregnancy and the decision making and found things much easier after the 20 week scan, as I felt that I then had everything I needed to make an informed decision.
I imagine the last few weeks have been the longest of your life!
Sending you hugs and positive thoughts

MelonB glad to hear you had all the info you needed.

I think posters are being unfairly harsh to Dolwar. You are all posting of your personal experiences of DS, this is just hers, she doesn't get to see the joyful times.

Another page recommendation for a friend of mine who has fab twins with DS-"Ollie and Cameron" on Facebook x

Thank you Under. Your family sound adorable

Fakename, yes that’s her view. She isn’t giving it as a private citizen though, she’s giving it as a doctor - she said so in her first post. Doctors’s words carry huge influence, especially for prospective parents facing this decision. I’m sure she has accurately described what she has seen but she, and anyone reading it, needs to understand that is not representative. If it was, you wouldn’t hear a peep out of me.

Mum to a DS with much more significant genetic disorder than T21!!!
I wouldn't change a thing! Throughout our journey we have met the most amazing people and amazing children! Siblings adore him (except when he trashes their rooms) but they sacrifice silly things ... If his iPad runs out, they'll hand it over and find something else to do.... They'll include him in a game. If they play in the close , he watches out of the window. They'll peekaboo him!
He's a light in everyone's life... Yes we may pin him down for treatment and he's kicked a good few doctors... They usually deserve it!! The right doctor knows and understands how to deal with him!!!!
It's not the end... It's just the beginning... It's a life !

Only you can know what you are capable of. I got a very poor nuchal result and had a cvs. We decided if the test was positive I would have an abortion. Thankfully I didn't have to, but it would have been the right decision for us.

I have not been in your shoes, other than waiting for test results and contemplating my choices should there be problems.

I can however speak as the older sister of a sibling with Down's. I am 9 years older than my sister so the same age your DS would be. I have never felt resentful of having a special needs sibling, and yes, in many ways I am her protector and always was. I am comfortable in taking that role for her. I'm so grateful she's in my life; I truly believe I am a better person for her influence.

My parents are in their mid-sixties, she is 34. It is understood (and I have planned this since I was a teen) that when my parents can no longer care for her without detriment to their own health, she will live with me. I love her with every fiber of myself and would do anything for her.

Were things always easy? Of course not. She can be a pain in my ass sometimes just like my NT sibling. But I wouldn't change her for the world. She is not a critical thinker; she struggles with conceptual thought process. A very concrete person. But what that really means for her is that she is very happy; she lives in the now, there is very little concept of what-if. In many ways I stil have a lot to learn from her.

In no way am I trying to influence you one way or another. I just thought you might appreciate the experience of a sibling of similar age-difference as your son would be.

As a PP said, don't just speak to families with young children with DS. Also speak to ones that are further down the path. This can give you a better perspective. It is something that will affect your family for the rest of your lives. I used to work for a charity that worked with the elderly parents of individuals with disabilities including DS. The parents in their 70's, so worried about what would happen when they die, where will their child go? Who will take care of them? Will they be looked after properly? Years of stress on their tired faces.

It is just something to think about. It isn't all cute YouTube videos of adorable children. You need to look at it longer term. It can be really, really hard.

Good luck with whatever you decide xxxx

I have an adult cousin with a similar condition to DS. She is the 3rd child of 4 and I can only say how deeply it has affected the other siblings (and to a lesser extent the whole of the wider family).

I have no doubt that the siblings love her, but the pressure she has meant for the parents has been of huge detriment to them.

She does now live away from home, but not independently. She is 40 now and my aunt is in her 70s and the strain on her over the years has been apparent and I know she is extremely concerned about the future at this point.

To add to this - I agree with the PP. as children people with DS (or similar in our case) do not present that differently. It’s when others grow up and they don’t that the problems start and the real differences and difficulties arise.

I don’t think anyone would say they regret having their child so I don’t think you get a balanced view from speaking to “success stories”.