New test for antenatal testing for Down Syndrome

[eidsvold]

Just came across this - developed at the hospital where dd1 was born 5 years ago. IN fact today 5 years ago was when we finally got to bring her home.

not sure how I feel

actually do know

[gess]

oh yes agree Davros, but I think its about information. You know the score with disability etc. Not everyone does The biggest shock for me was coming acorss some of the sites for trisomy 13 because it was something I would definitely have terminated for given the information I had, then when I saw the sites, it would have killed me if I had made that decision and it would have been totally wrong for me. I suspect the same thing must happen to people who've stepped onto the conveyor belt then not been able to get off. I think its a decision that if you take it then you have to be able to still feel that it was the right decision whatever other experiences you have/people you meet. You've already had those experiences etc to be certain that its the right decision for you.

The problem (as I see it) with the way things are organised currently is that there is an assumption that people will terminate for DS, so if you're not certain/haven't considered it might happen to you (which lets face it isn't going to be the case for any of us on this board ) and you're surrounded by people assuming that you're going to terminate, then I think it would be easy to make the wrong decision for yourself. 'You' as in 'one' of course.

[Dinosaur]

What a brilliant, thought-provoking thread.

My heart goes out to those of you who feel so hurt by this. My friend at work has a brother with Downs Syndrome who is adored by his siblings and is absolutely the focal point of the family. She was quite clear that no matter what the scans showed, she would not have a termination in any event. But she found it very hard being around women in her antenatal class and hearing them celebrate because they wouldn't be having a child like her brother.

Like Blu, mumsnet has given me a whole different perspective on testing, and on disability generally (well, okay, not only mn, but also the experience of having children with various disabilities).

[Peachy]

Mind you its probably easier knowing we have each other isn't it? if you have no-one you know who has a SN child- that probably makes it ten times harder. I came into this via nursing, and even resided in one of those nasty Victorian sanitorium places (psychiatric but their definitions were so skew wiff they ahd one old aldy who'd beens ectioned 80 years hence with a deformed finger) and I did my time in a unit with ASD adults so had a better idea.

Saying that, my sister apid for early nuchal and I couldnt bear to talk to her about it.

[Dinosaur]

[thread crash - btw Peachy can I say congrats!!!!]

[potoroo]

I have to say that I felt very naive and then sad about this. I assumed early testing was cost effective because it was cheaper than amnio - it never occured to me to make the connection between testing and termination.

DH wanted to do nuchal scans on both DCs (I am 8 months pregnant with the second) but we had already made the decision not to terminate (or rather, I would never have considered termination as an option for DS) and this pretty much ruled out amnio as well IYSWIM. From my point of view, amnio could tell me definitely if our LO had DS, but not about his/her general health which is what I was more concerned about.

I think with the second baby, the decision was even easier. DS is the love of our lives, and if something happened to him (bar white tracksuit and gold earings of course), would we love him less? Of course not.

But perhaps also, it is because I grew up with families who had children with DS and spina bifida, so it didn't mean so much to me?

[eidsvold]

i think that is what upsets the most - the lack of or totally inaccurate information that people are basing life changing decisions on. SOme of the things that I have had to correct medical professionals on scares me.

The genetic counsellor I had the misfortune to speak with prior to my nuchal translucency screening with dd3 was just scary. Her inaccurate and somewhat pompous stance was sad to the point of being scary. Her sitting there across a coffee table trying to tell me what it would be like having a child with down syndrome whilst dd1 sat next to me eating her afternoon tea What she said was just utter CRAP!!!! In terms of life expectancy, etc. Her contradicting me when I suggested that a Nuchal translucency screening can indicate the chance of a a number of conditions etc and telling me a number of times that I was wrong - when in fact she was incorrect was also scary.

It is that sort of thing that accompanies testing that makes me very angry. I don't get what is so scary about DS. Whilst i find it hard to accept that someone would want a termination based on the fact that their baby had down syndrome - I am learning that more often than not that decision is made of out fear and ignorance. Whilst it seems an easy decision to make at the time the ramifications can be life changing.

Guess that is why I am a volunteer new parent support person for our DS association - have been lucky enough to speak with hospital professionals about DS and testing and how to support parents etc.

[potoroo]

eidsvold, I think that is true. I noticed this time that all the literature that I got seemed to be focused on coming to terms with a termination, rather than providing any useful information - there was probably one paragraph on some support websites. I didn't pay much attention to it at the time, but now I realise that people might be making a decision to terminate based on this, and quite frankly it makes me feel ill.

[Davros]

I would like to be able to be honest though. As much as I love DS and have done all I can to help him, support him, respect him I would not have a child with disability that affects so much if I could have known beforehand. I would rather have been childless than have a child with severe ASD if I could have known what its like which, of course, I couldn't. I don't think anyone could accuse me of not loving or valuing him, not doing the best for him and accepting how he is but that doesn't mean I would repeat it first or second or any other time around if I didn't have to. I did take the risk with DD, as did many others on MN, as the disability in our family (ASD) is not testable, how I wish it was for DD as much as anything. At 47 I would have another baby now if I could be sure of it not having ASD.

The whole issue of who will care for our children when they are older tends to assume that there are siblings, often there are not because of how difficult it is and what happens to families. I would not expect DD to care for DS but at least he has a sibling who can take an interest and care about him, for 7.5 years that was not the case and for a long time looked like it would never be.

I am all for people getting the best and most accurate information possible, which they clearly are not, but would that still mean most people who would have terminated still would not? I'm not so sure about that. My observation over the years is that people do not change when they have a child with SN, they stay basically the same but have different and unexpected experiences and they cope and usually form a good life but they are not fundamentally any different to how they would have been anyway and that's the same for people in general. I think it is naive to believe that, with better information and support, many more people would knowingly choose to have children with disabilities and not terminate.

[gess]

Oh I think you're quite possibly right there. I was just shocked because when I found out the human (so to speak) side of trisomy 13 ti floored me because I had thought I would have terminated and that would have been wrong for me. At the moment people only hear one possibility, when its different. I would never have terminated for DS anyway (that was a discussion dh and I had before we had ds1) so perhaps I was sort of half way there anyway iyswim. I guess I think that within the medical profession there seems to be an assumption that it is right and best for everyone to terminate and I don't think that's true at all.

On the thread that went a little pear shaped last week there did apppear to be quite a lot of misinformation in terms of thinking amnio would test for everything (and I know if asked logically and directly people would have said that they knew that it didn't) but it seemed to be a feeling iyswim- and from the viewpoint of an ds1's school where very few of the conditions could be picked up (if indeed they existed) in utero that seemed a bit of a mistaken belief.

I think those threads must be very difficult to read if you have a child with DS though

[Dinosaur]

Davros .

[McEdam]

I've learnt a lot from this thread. I don't have an SN child so it has been very eye-opening.

But my own view is that it is a good thing if a test can give faster results, rather than leaving a pregnant woman waiting anxiously for weeks. I can see how the social assumption that a positive result automatically equals termination must be very offensive to parents of SN children. Clearly there needs to be much better information available to women who are considering having the tests. But that doesn't mean the test shouldn't be available.

FWIW I paid privately for nuchal screening because I was 34 and had a 'high risk' pregnancy - although not for Down's, particularly. I just wanted to rule out as much as I could rule out because it was quite scary knowing there was this added risk. The real worry for me was the 20 week scan as that was the one that could have shown spina bifida, amongst other things. I'd been run over a couple of days beforehand, just to make it even more fun.

Then I had to have a heart scan, too, although bizarrely that didn't particularly concern me - once I'd had good news at the 20 week I felt quietly confident. Of course I knew there were no guarantees, ds could have had something that can't be tested for (and the heart scan can't give you 100 per cent reassurance anyway) but I wanted to have as much information as I could get.

I don't think I would have terminated at 20 weeks anyway, although who knows, luckily I wasn't faced with that decision. But I definitely wanted to know so I could be prepared.

[Blu]

Davros - huge respect.

[McEdam]

I had a tiny, tiny taste of the sort of God-awful health professional some people have talked about before the 20 week scan, when this nightmare consultant lectured me about all the risks of my medical condition. She left me in tears, the cow. Spoke to me as if I was a feckless 14yo who knew absolutely nothing about my own condition and had wantonly chosen to bring suffering into the world. She was completely wrong about everything, but I was so shocked I couldn't point that out, just went away and cried.

I get the impression that people with SN kids have to deal with that sort of pig-ignorant approach all the time. And I'm appalled by it. Bad enough to come across it once, frankly.

[eidsvold]

Davros - I think - in my limited experience - that a lot of people go into antenatal testing without the whole 'facts' iyswim. A friend of mine is doing her masters/phD in the area of antenatal testing and whether women/couples do give true informed consent. She said it was amazing some the people she had interviewed for this did not even know what they were testing for but as the GP/midwife/consultant said they should, they did. They really could not say why they did it in fact in some cases except that the test was there.

Am looking forward to seeing what my friend's thesis finds.

[gess]

I think spuna bifida is another condition where the antenatal tests can be confusing as they (AFAIK) can't tell you how severe the condition will be (a bit like DS). I went to school with a girl with spina bifida and the only noticeable effect was that one leg was slghtly shorter than the other and had to wear a special shoe. Of course it can be a completely different ball game, but I'm not sure the tests can distinguish between the 2 antenatally. I suspect I know which version of spina bifida you would be told about, pregnant and scared, though.

[Davros]

I know that a lot of health professionals, and other professionals, can cause a lot of damage. The "medical model" of "Dr Knows Best" is supposed to be becoming a thing of the past with the "social model" of trusting patients and including them properly taking over. If its happening then it isn't happening fast enough. I heard some shocking things said by Drs and others in my last job on a research project related to people dying of cancer, never mind myself and among my friends who have children with disabilities. Maybe there should be more volunteer parents involved in these processes to help and protect new parents but then why should we do their job for them??? I got looked at like like I was a murderer when I told the woman doing my scan with DD that I might find out the sex as ASD is so much more common in boys and I would therefore consider terminating a boy. She also chose to inform me that you can't test antenatally for ASD, no shit sherlock. How dare she.
I also think there is a risk of society being expected to be so tolerant of diversity, difference etc that it is becoming very tricky to admit that it if you would test and would terminate, certainly in some circles. In the Autism movement the Militant Aspie section will not accept any mention of wanting to avoid or even alleviate ASD and it is not right that they should seek to suppress the other pov. They also refuse to accept that their particular pov is affected by their AS which, imo it must be.

[needmorecoffee]

I agree with Eidsvold that parents aren't given the whole facts (when are we ever?!) and health professionals themselves have their own prejudices when it comes to disability. When my daughter was pronounced brain damaged at birth i ended up comforting the doctor who was ina right old state and the midwife had to go on leave for trauma. All the sobbing and hushed whispers took away my baby. Scan or no scan, test or no test. They are such huge things that most people go into with very little thought as we all assume it wont happen to us. Its other people that get disabled children in our minds.
I think there needs to be a huge debate including the voices of disabled people themselves plus what being disabled means to the person themselves and to their family and society. To me, testing is a slippery slope on the way to eugenics. Maybe a super test would have shown that I would develop MS at 26. Should animperfect baby like that be terminated? Gonna cost society money, upset my mum etc etc.
I don't know the answer. Before I had DD and I was pretty ignorant, I would have talked about termination with barely a thought. I never sawa disabled person, they were hidden away. Now there is more inclusion and having had DD, I learnt that all people are valuable and human. I also learnt its tough, that disability isn't a walk in the park, gosh, so many things.
Maybe the debate should include what is it about the disability that is so hard (cos the disabled person themselves is rarely that bothered) and thats what we should be trying to change. DD has severe quadraplegic CP and is partially sighted and has epilepsy. But what is hard is thelack of support, poor respite, hopeless PT/OT/SALT (once every 6 weeks is crap!) worries about who will care for her when I'm gone (and given I have MS I might be checking out earlier than planned) and the genral day to day stuff. With my other 3 (one is an aspie) I found having 3 toddlers very hard and moaned and complained but there was a support network of toddler groups, playgroups etc etc that made life easierplus a network of friends and play-dates. All this is missing with DD2. And thats what makes is so hard some days.
If the suport was there then making that decison on scan day would be more balanced.
Davros -know what you mean about the more militant tendencies but I think its a stage the disability movement is going through. We are the last big oppressed group. People keep making decisions about our lives without consulting us Guvmint and carers andwhat have you). We still can't get into things if ina wheelchair (funnily enough I call mine my Davros-mobile). Disabled people can't get jobs and it wasn't solong ago we were put into institutions, denied an education (still happening) or euthanised (the disabled peple killed by the nazi's never gets a mention in Holocaust stuff). I had someone qestion why he, as an ablie, should pay taxes for buses to be made accessible. So I asked him if he'd ever been toa doctor and when he said yes, asked why my taxes, as a healthy person who never goes (despite my wheelchair) should pay for sick peoplelike him? Shut him up.

[gess]

Davros I'm right with you that the militant Aspie movement totally miss the point when it comes to severe autism. I'm actually coming round to thinking they should be recognised as 2 different conditions- as the issues surrounding them are so different (and I'm not convinced they're the same thing at all). They have very different needs and totally different impacts on families, and families need different types of support to deal with the 2 conditions. Donna Williams has written some great stuff about all that though (and been badmouthed by the militant aspie movement for it).

Genetically I strongly suspect that on the whole severe autism and AS are totally different anyway so I suspect really they have nothing to fear. (I say thart with no real evidence, just from looking at family histories relating to the two types).

[needmorecoffee]

I'd agree with Gess here. I have an Aspie son and my friend has alad with severe autism. My son can walk and talk and is aware of the wider world. Her son cannot speak, seems to be unaware of anything around him and rarely walks. In the olden days before autism was recognised he'd of got a label of severely mentally retarded. He sits shredding string or holding his face onto a shiny picture all day. There's just no real comparision between the two groups.
I don't know anything about reserach into neurological or gentic changes with ASD. Anyone know if anything has been discovered?

[needmorecoffee]

Thinking of militant groups....the loudest of the wheelchair user groups tend to be paraplegics who have become disabled through an accident. And you know what? Manyhave no time for lifelong wheelchair users (CP< spina bifida etc) or those with learning disabilities. Went to a meeting once and there was a big fuss cos the para didn't want to take the time to listen toa guy with CP who talked very slowly and one bloke actually said 's*** like them should be in a home'. Sigh.
If it hadn't been wheelchair gridlock in there I'd of gone and given him a slap.
Of course, not all paraplegics are like that, but this particular group don't do the disabled movement any favours at all.
I guess people are people!

[Peachy]

with Paeds about like mine who refuse to dsistinguish between HFA and AS though, splitting the two may well cause a loss of services to just those famillies who don't really need the shit. Just from my own eprspective of course, but I could quite imagine Sam's dx being 'downgraded' and really we do NOT need that.

[Peachy]

Wonder what would happen regarding NAS as well, as they are the only provider of AS support I am aware of? Just a thought.

[Davros]

NMC at your Davros mobile!! I am very excited that Davros is returning to Dr Who and will be played by Ben Kingsley. I agree totally about disabled people being the last minority to be recognised and fully support any changes to make things better. You are probably right that the militant side is all part of the process.

I know that the NAS has long debated the idea of becoming two separate societies to represent Kanners/severe ASD and separate the HFA/AS more able group. It has been discussed many times and the conclusion has always been that the two groups are better off together and that the Society should provide good support and representation for the whole spectrum. Talking of the differences at the ends of the spectrum, I have a friend whose DS is as high functioning as I have come across, but he is still the child I think of as resembling my DS's condition the closest. Although they are miles apart in terms of communication, intellect (for want of a better word), understanding etc they are VERY close in terms of anxiety and behaviour. I truly believe that the biggest factor that "divides" people on the spectrum is not whether they are verbal or not as many seem to believe, but their behaviour.

Another point on the whole antenatal testing thing in general. What about our children, whether they are the disabled ones or the NT ones? If and when they come to want to have children of their own are we going to make it difficult for them technically, and more specicially morally, to say "I don't want a child with X if it can be avoided"? I would like my DD to have that choice if it were available and not to feel that she couldn't make that choice as it would offend me or someone else. Many siblings seem to go into caring or related jobs so many of them value the experience but I wouldn't want DD to feel she couldn't choose to have testing if the day ever came.

I grew up with a sister with AS, although we didn't know that's what it was then, and thank god I had my other sister and thank god she had me. It deeply affected our childhood and our relationships with our parents. These days of course it would be different as it would be recognised and there would be more practical support but how different it would be for us emotionally, I don't know.........

[Peachy]

'I truly believe that the biggest factor that "divides" people on the spectrum is not whether they are verbal or not as many seem to believe, but their behaviour. '

From my perspective- which is a Mum of one classic, one HFA / AS- I would totally agree. DS1 is far harder to care for than ds3, I know ds1's chances of a 'life' are higher (though not as high as hey should be imo) but overall he is far ahrder to aprent. I know there are children with mroe severe ASD than ds3, but the dividing ine would clearly come between the two of my boys. So that's just my experience. But as I say, a valid one. Besides, don't see why i should pay membership to the NAS AND another organisation

Was wondering about the testing thing, and whether some people woiuld include scanning? I had a high def. scan to check for DS markers after the blood test, and I believe some people would access this information to make less well founded decisions on termination if other options were removed. And of course, scanning saves babies lives as well- twin to twin transfusion, IUGR (as Sam had), heart defects- all very essential.

So imo, probably the best situation from my eprspective would be to carry on providing the existing range of tests- making them as quick and efficient as possible simply for the sanity of those who are having them- but vastly improve the information around them. We ahd access to a fabulous pre-test counsellor who was quite open to the idea of us not having amnio, the first person we had met who was. Plenty mroe like her would be a start.

Interesting the comments about genetic counsellors- ahd I remained in Nursing that was my eventual career aim. The recruitment emphasis seemed heavily on the scientific side rather than the empathic, that needs to be addressed as well.

[bullet123]

"Genetically I strongly suspect that on the whole severe autism and AS are totally different anyway so I suspect really they have nothing to fear. (I say thart with no real evidence, just from looking at family histories relating to the two types)."

It is a tricky one. My older son is autistic and I'm Aspergers. I honestly don't know where on the spectrum he falls as he's so young. In some ways he's high functioning, he knows his colours, numbers, shapes, letters and can read a few words (family names). He has very good fine motor skills and is only delayed a little with some gross motor skills (peddling, jumping). But he shows no awareness of when he's done something in his nappy and can't ask to be changed, or tell someone if he needs to go. He was labelling a fair few objects but has recently dropped a lot of verbal speech (though not completely) and is just signing most of the time instead. He can't ask for things, tell you things, understand questions that aren't related to pointing to an object and saying "what's that?" He's never asked a question. He is very affectionate and very tactile, pulling on my hair and poking my face and kissing with his forehead. He is almost certaintly hyposensitive to sound, touch and movement. He will giggle and run around with other children, but on his own terms, he can't follow instructions and if he's playing with toys he doesn't want to be disturbed. He's small, so a lot of people presume he's about two and children his age are starting to question why he won't speak with them, or play with them as they like. He shows no fear of strangers. Although he's capable of walking we still need the buggy for crowded or noisy places, he has a tendency to lie down or spin round in the supermarket aisles for example. He has to follow exactly the same route into town when we go and likes to do things over and over. 95% of his language is delayed or immediate echolalia.
Age factors in a lot. At four I'd say he was probably middle of the road in terms of the spectrum, if he was eight I'd say he was more severe.