Antenatal Screening

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.
 

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.
 

So my mother's story didn't quite add up somehow. She, it just wasn't clear what had been wrong with the baby. She knew that the baby had had hydrocephalus, but she didn't know what sort. And so I said this to my GP and my GP said, "Well I'm just sending you straight to prenatal diagnosis." 

So we went there, and they said, "Well let's say this baby's got some form of hydrocephalus  - do you know if it had any other neural tube defects?" So I had to say "No, I don't know." And they said, "Well do you know if it was a boy or a girl?" I said, "I know it was a boy." And the only inheritable form of hydrocephalus, the only sort of genetically disposed form that can be passed on that would, could possibly have affected me only affects boys, because it's X-linked. 

So she said, "Well, in that case probably we ought to try and find out what it was." So they tried to get my mum's old medical records out of [specialist hospital] in London, which turned out to be a complete wild goose chase, and they initially said that they were in the bit of the building that had burned down so we couldn't have them and then they said 'oh no, they'd got that wrong, they were on microfiche' but they couldn't read that.

So it took about two months to get a print-out of these records. And of course by this time the pregnancy was ploughing on, and so they decided to just do a scan at something like twelve or thirteen weeks, I think just to rule out anencephaly - although that didn't fit with hydrocephalus so I don't know how that - but anyway, because we didn't have the information the doctor just said, "Look, let's just do a scan at thirteen weeks." 

Because what we didn't obviously want to do was find out something late. And of course that was completely normal. And then when we eventually got the notes about a month later, it turned out that it was all completely nothing that could've ever conceivably affected my mother's children, that the baby had actually had a kind of tumour in its brain, and that the hydrocephalus was all secondary to that, and that actually advice about folic acid was entirely irrelevant and wrong.  

So it all turned out to be nothing that could affect me. But it was quite a traumatic experience, almost not so much for me but for my mother, having to kind of re-live it again. And she never saw her old notes or anything like that, but she was made to think about it in a detail that she probably had chosen not to for years and years and years. And I didn't read the old notes either, but the consultant who did said they made pretty awful reading.
 

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.