Interview AN28

Age at interview: 33

Brief Outline:

Healthy pregnancy after an early miscarriage. Interviewee has a brother with severe learning disabilities and describes having genetic screening and counselling in early pregnancy.

Background:

Children: One baby, 8 months, Occupation: Mother - lecturer, Father - lecturer, Marital status: Married.

She felt well advised by healthcare staff about the purpose and consequences of screening.

You don't quite understand that when you go into screening that by the time you get all the results you are probably looking at week 20 or something, and that by that time a child is kicking around inside of you.

Did anybody talk to you about that or - ?

What we were impressed with, as soon as we saw the specialist that was the first thing she said. And we were really incredibly impressed with the way that she said, you know, 'The first thing that you have to think about is why are you doing this and what are the consequences of you doing it.  

And in a sense if you don't want to terminate, there is an argument for you not doing this.' And also making it very clear that that's a very tough decision. So we were very impressed with that as a kind of approach. And it was done in a very sincere kind of, and compassionate way. But that was made very clear.

What do you think about that argument? Do you think that if you aren't clear that you'd go for a termination that you shouldn't have screening?

Well I think, I mean I think it's very difficult, because it then becomes an issue about why are you screening. And I guess there is an argument to say that you're screening because at least you then know, and then you can prepare, and you don't have the shock when the child is born. And I can see that as legitimate.

And there is also the problem that it's the case that if we take severe abnormality, you would say, 'Oh yes, well, that's a reason for termination', but what if it's only mild? And this is I guess saying that you're... one is a little bit na've when you go into it.  

Or, in a sense, because screening isn't really about diagnosis, all it is, is screening and you in a sense then are dealing with risk factors, that you then have to make a decision about those. So you're always dealing with a kind of uncertainty.

Likewise even if you have an amniocentesis, it's not necessarily going to tell you the true picture. So I think, I don't know if it's a case of you definitely want to terminate, but you have to be prepared to make some very hard decisions, and it's not an easy process.
 

Her brother's unexplained severe learning disabilities made her worried about screening and pregnancy.

But I quickly became pregnant again and we were very excited, but at the same time slightly nervous that one, I wouldn't miscarry and two, over this issue of screening because of my brother.

And my brother - at which point I should probably explain about my brother. I have an older brother who is four years older who has severe mental disabilities and also is, displays autistic behaviours, and his intellectual age is of about a 3 year old.

He can't talk, he finds it very hard to socialise in normal situations, and because my father died when I was very young he's had to live in a state home in Australia. And that's been very tough on our family, and there's no known reason why he is the way he is, so we don't know whether it's genetic, we don't know whether it was something to do with the birth, we don't know whether it was something to do with what happened during pregnancy.

So there is this kind of constant uncertainty that sort of hangs over you and it is very upsetting growing up in that kind of environment. And also being I think around a lot of other families who've had to deal with severe mental disabilities and it's not easy.
 

She was impressed with the genetic counselling and testing she was offered, and found it reassuring.

What we did is in a sense we went to see the specialist, we talked about my family tree. So it wasn't just about my brother, it was really looking back to see if there were any other kind of problems. And I had actually been through that experience when my sister had got pregnant and we'd all gone off to the specialist there, and it was a very kind of similar experience. 

And there is no one else in the family tree, which would suggest that it's not genetic, but then you never know. We then talked about really what could be done. I also brought in pictures of my brother, which I felt kind of silly doing'.but the specialist actually found them very useful, because they're ways of picking up certain types of syndrome'.And what was very good about having the photos there is because those syndromes tend to result in particular physical characteristics, she could then look at them and say, 'Well, it doesn't look like this. It does look like that.' 

So we talked through that, and then the decision was that my brother had actually been tested for Fragile-X about three years ago. And again with these tests, they're not definitive but the suggestion was that no, he didn't have Fragile-X. And so there was a feeling that there wasn't much use testing me'. 

So I went away, I had a blood test, I set up the nuchal scan test - and then I got back and I discovered my mother had been chasing around for my brother's records about this test. And it had turned out that in actual fact that test he'd had was on an old technique, which had thrown up many false negatives, and that a new technique had now come in which had less false negatives with it. 

And so I immediately faxed the hospital and said this was the case, and they immediately said, 'Oh, and we'll test you for Fragile-X as well.' And I was very impressed with that. They could have just said to me, 'Oh, look, it's fine you know. More than likely it won't be a problem.' But they just said, 'We'll test you immediately as well.' 

And did they test your partner for anything as well?

They didn't because there wasn't really anything in his family. And it really, as I said, it was really just about my brother that was the kind of anxiety. And they were very good in terms of letting me know how long those tests would take to get back, and they were very good, the specialist actually rang me to let me know the results, which were fine. Well, I mean, they were fine in the sense that they didn't suggest that there was any problem.
 

She was anxious about her mother's feelings about genetic testing because of a family history of learning disabilities.

There was concern about the genetic problems, and tied up with that was also the fact that I knew that I also had an older sister who's had two children, and when my sister was pregnant with those two children, my mother was incredibly upset and incredibly anxious about whether they were going to be OK. 

And so I felt that one, I wanted to do what I could to make sure that if there was a problem that I was going to know about it. But two, I also felt that I also wanted to make sure that she felt as happy as she could about the experience. 

And so one of the things we had decided - my husband and I - early on is that we would arrange any screening before we told my mother, to make her feel that we were doing everything we could. So it was a very mixed, a very complex kind of emotional thing that was going on in those early weeks around screening'.

I think in her context it's very complex, because it's also tied up with the fact that she lost a husband and she had to raise three children by herself. But I think also because in a sense the experience with my brother was that when he was born she felt immediately that she knew something was wrong, but she was told that he was fine. 

And it was only when he started not, you know, he didn't sit up, all these kind of things didn't start happening, that they said, 'Oh, we think there is something wrong.' And they kept revising how serious it was. And so I think for her it's just the kind of fear - and a very natural kind of fear. 

What was interesting though is once we did all this arrangement and I rang her up and I announced I was pregnant she was over the moon. And in actual fact she said, 'Well, I've actually dealt with, you know, ever since your nephews were born I've actually dealt with these issues and I feel far more at peace with it.' So it was a kind of anxiety I probably didn't need to have.
 

She felt reassured she had done as much as she could by having screening and genetic testing.

And of course the other thing with statistics is that, you know, ultimately they're all based on kind of past experiences and not your experience, so you have to recognise that you're dealing with a kind of uncertainty. And that was made very clear. 

I mean the other aspect of screening is you can only screen for certain things. And I kind of knew that going in, and again that was made very clear to us. And so in a sense if you go through the screening process and it comes up saying, you know, there doesn't seem to be a problem, that's not the end of it. But at least you sort of feel like you, I have done everything I had been able to do. I'm not going to get any surprises which in a sense I could have prevented'.

I was incredibly impressed with her [the genetic counsellor], because she was just a very compassionate person. And she wasn't promising that she could say everything was going to be all right, but I didn't, in a sense you don't so much worry about that because what you're feeling is you're saying, 'OK, I've done what I can do, and I've been through this process of thinking about this.' And so it was reassuring in that sense, rather than saying, 'Yes, the baby's going to be fine.'

Written information can seem overwhelming, but people can understand the difference between screening and diagnosis if it is explained clearly.

Do you think most people appreciate that distinction between screening and diagnosis? Is it clear in the information that you're given?

I don't think, I mean one of the things I remember is that when I went to the GP I got huge numbers of leaflets, and I actually, I also think I got them from the midwife. And I remember kind of sitting with this kind of plastic bag of leaflets, thinking, 'Where do I start with this?' And I think it was a little bit hard to get my head round all of that. 

And I suspect in that it's not as clear as it could be, although it was pretty clear once you started sort of sitting down and focusing on it. I mean, I know there's a kind of argument to say that, you know, people can't understand this difference, and I think they can as long as it's made very clear.
 

She felt by the time of the 20-week scan it would be too late to consider ending the pregnancy.

And I guess my feeling is also once you get to the point of the 20-week scan, there really isn't much room to do much after that point. And I also kind of felt at peace with that, because I remember sort of feeling - and my husband - we discussed this and saying, 'Well, if there's something wrong with the baby that's fine, you know.'

That you'd just, that's it, you'd go ahead?

Yep, and we accept it, and so that was a kind of interesting feeling to have.
 

They had an anxious moment at the 20-week scan when the sonographer paused briefly. They felt he communicated honestly.

Then the next stage really after that was the 20 week scan. The person who did the scan I think already knew the kind of background and the slight anxiety, and was very good and was very thorough. And there was a moment or so when he kind of paused over the heart. 

You kind of, you know, both of us were breathing in. And he was kind of saying, 'Normal', and at the end of it he said to us 'You know, it looks fine, and if it wasn't I would immediately tell you.' Which was kind of very reassuring.

One of the things that we've been talking about is the extent to which the ultrasonographer actually tells you at the time what they're looking at and like you say, when they pause over the heart, do they actually say, 'I'm unsure whether there's something wrong here,' or did he tell you that he was going to wait until the end to tell you or? How did he communicate during and after?

What he did is, the form that you have when they're doing the scan is kind of a tick box list of the head, the brain, you know - is there a brain there? Are there toes there? And what he did is really went down there and said 'Normal, normal, normal, normal' to the person who was kind of taking the notes. 

And when it got to the heart he kind of paused, so you kind of noticed it, and then he said, 'Normal.' And that kind of made you slightly, it was just the pause that made you slightly nervous, but then at the end of it he said, you know, this statement of saying 'It's fine, you know. As far as I can see it's, it's fine.'

Would you rather he'd done anything differently? Would it have helped if he had said anything at that point or - ?

No, I mean I thought he was very good, in the sense that he was - I mean, talking to other people he is apparently one of the leading kind of experts on doing this, and he was just very straightforward. So you felt that he was saying what he thought and he wasn't trying to hide anything from you.