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Interview 15

Brief Outline:

Father knew he was a beta thalassaemia carrier. Mother discovered in pregnancy she was also a carrier. Couple had CVS and were told the baby had beta thalassaemia major. Since birth the baby has been well and has not needed transfusions as expected.

Background:

Married couple, with on child aged 14 months. Mother aged 36, father 35. Both are solicitors. Ethnic background/nationality' White British.

More about me...

The father had known from a blood test in childhood that he was a beta thalassaemia carrier. He comes from a white British family, and he had been advised it would be sensible not to marry another carrier. He mentioned his carrier status when his wife was pregnant, although as she also came from a white British background they had no special reason to think she might be a carrier. However, her screening result showed she was a carrier, and the couple decided to have CVS. They wanted a definite diagnosis but would not have wanted a termination for beta thalassaemia major. At the time, they might have considered a termination if they had found the baby had any other conditions as well. Now they know what it is like to be parents they feel they would definitely not choose a termination.

They were told the baby had beta thalassaemia major, and would probably be quite unwell and need transfusions for most of his life. This was a very worrying prospect. In fact the baby has been very well since birth, and it is unclear whether he has beta thalassaemia major or a less severe form of the condition. He has not needed any transfusions yet, and the parents have been advised that if they have another baby with the condition he or she will not be any worse affected. In another pregnancy they would therefore not have CVS again, but would wait for diagnosis after birth.

 

 

He knew from childhood that he was a beta thalassaemia carrier, and suggested his partner should...

He knew from childhood that he was a beta thalassaemia carrier, and suggested his partner should...

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Father' I went to my local children's hospital as a child for a tonsillectomy. I'd previously had a, an ear operation, the tubes in the ears, as a child, without, without it being picked up. But I went in for a tonsillectomy and a blood test revealed - they said it was, I suppose being white and, and the city I come from, I was quite a novelty really. They'd, I don't think they'd seen a white child with, with thalassaemia. So they went back through, my two brothers don't have thalassaemia, but my father does, which sort of probably accounted for his sort of often fatigued - you know, after, after a hard day's work he was often very drained. And I was the same as a child. And so all, all really we were told at the time, it was, it was like, 'It won't have any effect. It won't really bother you.' I think I was told I shouldn't be a deep-sea diver or a fireman because of oxygen tanks and things. And all I remember the doctor saying is, 'You'll be fine. But you shouldn't marry a Greek girl, because girls from Greece may have this.' Because back then it was a sort of Mediterranean condition rather than a condition that's now spread to the sort of Indian subcontinent. 

And so when we met it's, there didn't seem to be any risk that there would be any link. And almost when I mentioned it to our midwife, I said, 'Oh, by the way, I've got thalassaemia minor. Do you think it should be, it should be checked and -?' 'Oh, no, no, I don't think you need to bother about that.' And after talking for a while she said, 'Well, we'll stick it in on the blood test as well.' And I think in this city, given the large ethnic background, I think it is a general policy that they want to extend the blood testing beyond the Asian community. But when we were tested it was just because I sort of suggested it.

Footnote' although being a beta thalassaemia carrier has no effect on your general health, some carriers feel they get tired and anaemic.

 

They opened the letter telling her she was a carrier late one evening. They searched the internet...

They opened the letter telling her she was a carrier late one evening. They searched the internet...

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Mother' Well, the thing is that the first, literally the first thing we did - and I didn't open this letter from the haemoglobinopathy nurse until about half past nine at night - we'd worked late or we'd been out and we came home and suddenly I thought, 'Oh, there's this letter.' And the letter was sent to me by my married name, and I use my maiden name, so I knew it was something connected with the, with the pregnancy. And I knew that obviously it was about the time we should be getting the test results. So I sort of opened it with a certain amount of trepidation. 

And then what can you do at half past nine at night? Well, the first thing you do is hit the Internet. And the - I think we went to the, straight away to the Thalassaemia Society website. And there's, if you let, allow yourself to read and link up as many times as you can, you can actually find some pretty disturbing information. 

And we, it was such a shock, that I think we immediately started looking at the, on the sort of blacker side of the picture. And initially you may not appreciate the distinction between how the condition is controlled and can be controlled in the UK as opposed to, you know, the, the lack of medication and transfusion facilities in the Third World for example. And I think we, all we managed to do in the sort of twelve hours before the nurse turned up was scare ourselves stupid that it was, you know, if the child had the condition it was a very bleak future. And, you know, you can, you get carried away and you can look at things like life expectancy and things like that. And you might not necessarily - and I'm not talking about any particular website - but you might not be looking at the most up-to-date statistics or the best statistics. 

And at times when you read personal stories you can read some very inspiring ones. And certainly you made contact with somebody by email who was very helpful and very supportive, who was an adult with thalassaemia major. And he, we got quite a lot of comfort from him in a, sort of over the sort of following few weeks et cetera. But you can also read some - for want of a better word - horror stories as well, which is not necessarily the thing that you should be doing when you haven't even got a diagnosis or a certainty. 

 

They had CVS to help them prepare for having a baby with beta thalassaemia major. They might have...

They had CVS to help them prepare for having a baby with beta thalassaemia major. They might have...

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Mother' She made phone calls while she was with us to the local hospital - well, it was a hospital across the other side of the city, to the genetics unit and arranged to see us, for us to see a consultant that afternoon, who told us more about the condition. And clearly the, the risk being that when we both carried the trait that there was a 25 per cent chance that the baby would actually have thalassaemia major, which seemed very high in terms of other genetic conditions and the, and the likelihood of them occurring. 

So we saw the consultant that afternoon and I think that there and then was, I was booked in for a CVS the next day. Because by that stage, at I think sort of coming up 16 weeks pregnancy, something like that, they were concerned that if I wanted to, or we wanted to consider a termination that clearly it would be getting quite late in the day for that. We decided to have the CVS, not because we were ever going to consider a termination, but because it was a 25 per cent chance that the baby would have thalassaemia major we wanted if it was bad news to be able to prepare ourselves as fully as possible. 

So we went back to the hospital the next day, had some very brief counselling before we had the CVS. Had the procedure, which I found extremely distressing, invasive, was very scared afterwards about the increased risk of miscarriage as a result of having it. 

But we also opted at that stage to find out if the baby was carrying any other genetic conditions, which we had decided previously we weren't going to find out about. Because we thought if we were looking at a, a combination of problems, particularly something like Down's syndrome, where obviously the extent of disability is not obvious prior to birth, we would maybe then reconsider whether or not we did progress with the pregnancy. Because we thought for a child growing up to have to have fairly lengthy and frequent treatment coupled with possible lack of understanding, then it may be too much for that child to be able to cope with. And I hope that when we were thinking about the decisions it was on the basis of what would be best for the baby, as opposed to what would be best for, best for us as parents.

 

They might consider testing again for other conditions such as Down's syndrome but not for beta...

They might consider testing again for other conditions such as Down's syndrome but not for beta...

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Going back to thinking about your, your decision-making and, and your attitudes to termination and living with disability was religion any part in your thinking, at a different level of moral discussions?

Father' I don't think either of us would put any religious barrier to, to considering it. No, I don't, I think really, the real crux of it, I think, was - and I think it was, it was my idea that we - we'd always said, 'Don't bother testing for anything.' But once we had to have the thalassaemia, we decided to go for the thalassaemia test, I said, 'Well, we should test for everything' in case, in case the odds then stacked up and made the child's life so potentially unpleasant, as it were, you know, difficult.

Mother' But we said all that in theory. Whether or not we would have, if we had been faced with a combination of problems, whether or not we would have done anything in practice you can't say now with the benefit of hindsight. But all I can say is now I would be much more certain in the future that I wouldn't. I can't say that I wouldn't opt for the screening, because once you've had the screening and you know the outcome then you can arm yourself, educate yourself as to what you are potentially facing. I mean, I would say that the, you know, the old saying of, 'A little knowledge is a dangerous thing' is very true because, you know, you can absolutely drive yourself crazy by things that you will read. And you need to make sure that the education that you're giving yourself or you're being told is actually the best information, the most up-to-date medical information that you - scientific research et cetera - that can be given to you. 

And if it were just to look for confirmation of thalassaemia?

Mother' Wouldn't bother.

Father' No.

Mother' Wouldn't bother. But having said that, we know that any other child we have is not going to be any more badly affected than, than our child is now. And so, you know, touch wood we've got through the first x number of months without transfusions et cetera et cetera. So if that, if that's effectively guaranteed for, for another child, which we've been assured it would be, then no, I certainly wouldn't have any screening for thalassaemia again.

Footnote' It can sometimes be difficult to establish a clear diagnosis. Some people inherit a mild beta thalassaemia mutation, and they may have a form of the condition called beta thalassaemia intermedia. People with a very mild thalassaemia intermedia may not need regular blood transfusions. This couple's baby has remained healthy, which was not as predicted.

 

The decisions you make in a first pregnancy may be different to those you make once you know what...

The decisions you make in a first pregnancy may be different to those you make once you know what...

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Mother' I think the other thing is that the baby was our first child, and you don't know how you're going to feel as a parent until you have a, your baby in your arms. And what I would say now is that, if I have more children, I know how it feels to be a mother now. And the decision that you may consider making as a first-time parent or as a prospective first-time parent I think could be very different to a condition, a decision that you make with subsequent pregnancies, with subsequent children. Because you, it's not until you have a child that you experience the joy of having that child, and the pain - because there's obviously the pain that goes with, with parenthood. And it's not physical pain as well, but it's, you know, it's a desire to do the best for your child, and look after it and for it to have the best in life. 

 

She was upset during the CVS. It was not especially painful, but she was feeling emotional and...

She was upset during the CVS. It was not especially painful, but she was feeling emotional and...

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Mother' Well, it was all done - the - it was, it happened on the, within 48 hours of us actually finding out that I carried the thalassaemia gene, the trait as well. 

So it was fairly surreal. And we were going to, you know, we saw the nurse, then we saw the consultant, then we had counselling to see if we wanted the CVS and what we would do, dependent on the result et cetera. And then the next morning we came back to have the CVS. And, you know, the nice bit of it was that we had another scan. So we got to see the baby again, which is always nice when you're pregnant to see, to see the baby and hear the heartbeat, and all that kind of thing. Because at that stage in your pregnancy, 16 weeks or whatever it was, you don't feel the baby yet. So it's always nice to have reassurance that it's there and that, and everything's okay. But once we'd sort of had the scan and, you know, they sort of got down to the procedure it was, I was just beside myself, I just cried the whole way through it. And probably sort of carried on crying afterwards. 

And I know that I was then worried, and went to my local hospital to have, to be put on the monitor sort of 48 hours after I'd had it, because I was scared that something had happened to the baby. And, you know, you just can get completely carried away with the emotion and the, sort of the worst-case scenario of the whole thing. But it, I mean I can't say, it wasn't a painful procedure, but I think it was more emotionally as to how I was feeling about it. And even in, if you're in a pregnancy where everything's gone well, you're a very emotional person [laughing]. 

And so I was, I was, I was very, very emotional at that stage. And it, the, the procedure, it was, was fine. It's just when you know what the possible side effect of having a procedure is, and that's obviously a miscarriage, and the end, the result of having the test is to confirm or rule out a problem, a condition, that's what sort of makes it more nerve-jangling. In terms of, you know, the discomfort or whatever, it's nothing to going through having the birth [laugh]. So that wouldn't worry me, it wouldn't worry me from that point of view, having one again.

Footnote' there is a small risk (around 1%) of a miscarriage after CVS or amniocentesis.

 

They gathered lots of information and decided to continue the pregnancy but it was a difficult...

They gathered lots of information and decided to continue the pregnancy but it was a difficult...

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Father' I always felt that they said, 'You obviously know a lot about it. You've obviously found out about it beforehand. You've obviously read up about it.' So I didn't feel that they were sort of saying, 'You don't understand the condition and you don't understand the significance of it.' So I think they always accepted that we, we were fully read up on what the condition meant and what the long-term consequences may be if it was thalassaemia major. Albeit that practical things like transfusions we weren't that sure about, what it would involve in, you know, in practice. 

But I never felt, I never felt pushed down any particular route. And, as I said, sometimes I sort of wished that somebody had given us a guiding hand, because it was, it was so hard to decide. And we, I don't think we ever really wanted to consider a termination, because it, because having a baby was so important to both of us, and up to then we'd been so excited about it. As I say, I think if the, if the worst outcome had happened and they'd said, 'Look, the baby will have thalassaemia and a very serious condition which will affect his ability to cope anyway with daily life' then I think, I think we would have thought long and hard about it. But...

Mother' I feel to an extent differently. I don't think that any medical professional, I don't think they certainly can, and I don't think they should give you, push you in any direction at all. I mean, ultimately when you're talking about screening and what you will potentially find out about your unborn child could result in the end of that pregnancy, and that has to be a decision that only the parents take, without any guidance, I think, from any professional. 

 

Their baby's health has so far been much better than predicted, so they are glad they decided not...

Their baby's health has so far been much better than predicted, so they are glad they decided not...

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Mother' I mean, all I would say was that we were told it was, as I said, practically a certainty that the baby would have thalassaemia major and that it would be transfusion-dependent probably by 6 months old, and then have the drug therapy kick in at about 2 years. And the reason why there was a mistake made, if you want to call it a mistake, was that [husband's], my husband's genetic code, as it were, had not been identified in medical literature before. 

The nearest they had found that, the baby that had resulted from that father or mother had been transfusion- and, and drug therapy-dependent. So they said on the basis of that knowledge they were practically certain that ours would be. But because there's this sort of kink in the, in my husband's genetic code or whatever, then that is why our child is not, has not presented with the thalassaemia major which was envisaged. And I mean, on one hand you want almost the worst-case scenario, because then you prepare yourself for it, or you prepare yourself for it as fully as you can, but on the other hand you do think, well, we were being counselled for a termination et cetera on the basis that it was almost inevitable that our child would have this lifelong condition which could affect, you know, his development and his physical appearance and then, you know, his life expectancy et cetera et cetera. And you, it's sort of quite hard to sort of reconcile the two now, because the outcome has been so different to what we expected. 

And that's why I would always say to somebody, 'Whatever odds you're given' - and, you know, you hear anecdotally about amazing things that have happened to other, other babies et cetera et cetera, particularly afterwards when you feel that you've had an amazing experience, that you, that I would always say to somebody, 'You do not know what the outcome is going to be. Nobody can guarantee it for you.' And, you know, therefore I always think it's worth a, it's worth a shot. Which seems a very sort of banal thing to say but it's, life's just too precious, I think, for - I don't know - decisions to be taken on information which may not be correct. And that's nobody's fault. Everybody's tried to give you the best advice. But, you know, in our case, if we'd, if we'd been governed by that and if we had been, I don't know, more ambivalent about a termination et cetera, then maybe we would have had one and, you know, we wouldn't have our child.

Footnote' thalassaemia can take several forms. The most common is beta thalassaemia major, which causes severe, life-threatening anaemia and requires regular blood transfusions. Other forms of thalassaemia can be less severe and may not require blood transfusions. It is not always possible to predict how each individual will be affected.

 

She tried to enjoy the rest of pregnancy but it wasn't always easy. Her partner felt guilty...

She tried to enjoy the rest of pregnancy but it wasn't always easy. Her partner felt guilty...

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Mother' Well, it's, I mean it was, it was always at the back of your mind. And it probably wasn't even really much at the back of your mind, it was at the front of your mind, because we knew that once the baby had been born, he would need to see a consultant and they would start testing et cetera. And then, you know, we were sort of told, 'Well, it could be as young as 3 months that the transfusions might need to start' et cetera et cetera.

So I think we sort of, once we'd had the CVS and we'd got the results, we then saw a lot of people. Saw the consultant several times, saw a psychologist, saw the haemoglobinopathy nurse again, read lots of information about the condition et cetera. And then once we'd done all that we just thought, 'Right, we've done as much as we can do. Let's just try and get on with enjoying the rest of the pregnancy and getting ready to have, you know, your first baby, which is a very special time.' And I think that once we'd armed ourselves with as much information as we could do, you then think, 'Well, you can't do any more until the baby comes, until you can see how the baby presents et cetera.' So you have to almost shut it off as much as you can, and just concentrate on the more pleasurable side of it and getting all the stuff ready and all that sort of thing, don't you?

Father' I think so. I don't, I think you probably enjoyed that side much more than me. I mean I --

Mother' Yes, because I'm, I'm a woman and, you know, you get to go shopping for Babygros and all that sort of thing. And I'd love it, I loved it.

Father' I, I mean I did, I sort of felt, I felt quite guilty after that. And it, that didn't go away. I felt, I almost didn't, you know, I kept imagining what I would, you know, one day I'd have to explain to him why we'd, you know, potentially sort of consigned him to a lifetime of health problems. And I did feel very guilty about that. And you sort of hear about things, such as you can, you can take a tablet and this will help with the iron therapy, rather than these overnight injections into the, into the abdomen which take twelve hours on a pump. 

And then you'd read that they, the Canadian tests had been a washout and it wasn't likely to be a success. And I did feel very guilty. I sort of hated the thought of, of sort of having to hook up a baby at the age of 2 to a, to a pump every night and, you know, tape it on to his stomach. And I felt, I felt very, I felt very down about that. It, it wasn't, it's a bit like waiting for exams to come up almost, you know. You, you know they're coming but it seems, it seems a long way away. And, but there was nothing you could do about it. And I did feel it weighed quite heavily.

 

They worried about how they'd manage transfusions and chelation [iron removal] therapy but she...

They worried about how they'd manage transfusions and chelation [iron removal] therapy but she...

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Father' I mean perhaps I, I thought, 'What, what will happen next? What, you know, what's the next bombshell?' I did, I did feel, I did feel quite down about things for, for quite a long time afterwards, because you just don't know how, you know, you don't know how bad the health problems will be. And I don't know if - I don't think I didn't feel ready to deal with it, but I was, I was, in a way I was dreading having to deal with it, to a large extent. I was dreading all the hospital appointments and things like that. Not that the actually going to hospital and all that bothered me. But I just sort of foresaw this baby crying with yet another needle going in. 

And I mean the thalassaemia website, the actual front page of it is a baby sat down in a nappy with a drip, with a, with a transfusion bag. And it almost, it does sort of reinforce that feeling, you know, because it says, 'Tired for life.' And you think, 'Oh, God', you know. So I did feel that quite a lot and it did take away, I suppose, a lot of the natural enjoyment of, of going through a pregnancy.

Mother' But, but then I think, you know, if you look at us as characters, you're quite sort of 'glass is half-empty', I'm quite 'glass is half-full' anyhow.

Father' Yeah.

Mother' And that, that obviously reflects how you deal with things and how you think about things. I mean, I certainly didn't ever think that our baby would be as well as he is and the condition would be so dormant, if that's the right word, or so unobtrusive. And I was scared and apprehensive about dealing with the practical side of it and the physical side of it and, you know, whether or not I'd be any good at, you know, sticking the, putting the sort of therapy in, the drug therapy and sorting all of that. And I was worried about all that. 

But you have to deal with these things in life and, you know, I just thought, 'Well, we will cope and we, you know, we are together and we've got a strong relationship.' And there wasn't any suggestion that, you know, one of us would be coping on our own. So you get a great deal of comfort from that. And, you know, we have got families who are supportive. It might be in their own way, but they are supportive. And, yes, I think you just think, 'Well, this is the cards that we've been dealt' and you have to deal with them.

 

They were told the baby would have beta thalassaemia major and would almost certainly be...

They were told the baby would have beta thalassaemia major and would almost certainly be...

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Mother' Secondly we were then told that, yes, the baby was, did have thalassaemia major. We were immediately put in touch with the local children's hospital, saw the consultant there who would have taken, take on the baby's care after birth et cetera. And we were advised that it was practically a certainty, 99.9 per cent certain, that the baby would be transfusion-dependent and require therapy from from a sort of fairly early age. About 2, wasn't it?

Father' Well, transfusions from about 6 months.

Mother' 6 months, and --

Father' And then iron therapy as, as the transfusions built up the, the level of iron in the, in the bloodstream. 

Mother' So that was what we were prepared for. The rest of the pregnancy continued completely normally. I had my baby a week late by emergency caesarean. We opted straight away to have the baby, have its immunity for, typhoid?

Father' Well, we had the vitamin K and we also had, yes, the TB.

Mother' TB. Because we were advised that if the baby needed early treatment it would be exposed to a lot of children from different ethnic backgrounds, who would much more likely to have been exposed to TB by family, relatives et cetera et cetera. At, within about a month of the baby's birth, we went to see the consultant at the children's hospital, carried out blood tests et cetera. And straight away the, the first blood tests that were taken confirmed that the baby's haemoglobin level was much higher than they expected it to be. And that has continued to be the case. 

Initially the baby was seen every three months by the consultants. And the haemoglobin level is now at a sort of plateau. The reviews are now back to six months. We're next going in January. And his cons-, the baby's consultant believes that the haemoglobin level has now plateaued, and that if matters stay the same over the next few months, certainly the next one or two reviews, then the baby will probably reach puberty without needing transfusions and therefore the, the iron therapy. So all in all it's a much better outcome than we ever expected to have. And we've been advised that, should we have more children, which we would like to do, then they won't be at any, they won't have any greater effect of the condition than our baby has now.

Have they actually revised the diagnosis from major? Have they, is it still beta thalassaemia major?

Mother' It, unofficially the consultant has said intermedia. But we haven't as it were had anything in writing. 

Father' I think what they've said to us really is 'intermedia' is such a loose term and I don't think everybody agrees on exactly what constitutes intermedia.

But they think he's probably within that sort of 5, 3 to 5 per cent of children who largely manage on, on a low haemoglobin. And to be honest his haemoglobin level is lower than mine. I don't know what mine was as a child, but mine is quite low and his is lower. But he's functioning very well without any, without any intervention at the moment.

 

Professional learning: It was helpful hearing from a man who had beta thalassaemia major, but...

Professional learning: It was helpful hearing from a man who had beta thalassaemia major, but...

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Mother' And at times when you read personal stories you can read some very inspiring ones. And certainly you made contact with somebody by email who was, who was very helpful and very supportive, who was an adult with thalassaemia major. And he, we got quite a lot of comfort from him in a, sort of over the sort of following few weeks et cetera. But you can also read some - for want of a better word - horror stories as well, which is not necessarily the thing that you should be doing when, when you haven't even got a diagnosis or a certainty. 

Whereas once we were told that the baby had, was going to have thalassaemia major, then we did consciously decide to meet with consultants who treated the condition, to meet with the psychologist who worked with children and adults with thalassaemia and sickle cell, to - we didn't get as far as meeting a family who were bringing up children with thalassaemia. And we were asked if we wanted to, but we were told that they would very carefully choose the family that we met, because it could be a very positive experience, or there would be a family who were not coping well and, you know, who this was a massive disaster to in their life. And like everything in life - and it may be trite for us to say it because we've had a very good result - you can, you have to put things in context. And, and we felt that we would be better off waiting to see what happened when our child arrived and then deciding whether or not we wanted to speak to a family who were further down the line to see if we wanted to share from their experience. 
 
 

Professional learning: They had lots of detailed questions about how beta thalassaemia major...

Professional learning: They had lots of detailed questions about how beta thalassaemia major...

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Father' I mean, I felt when we went to, when we went to the hospital, to see the consultant at the children's hospital, I found, I found that I was sort of obsessed with looking at the children and saying, 'They all seem very happy. They all seem very'', you know - even though I knew that they were there for reviews and for transfusions. And that did, that did go some way to putting your mind at rest. Because there are lots of practical things that you don't really know. 

'How long does a transfusion take? How much pain is the child in? How, how will the child go through its cycle sort of towards the end of the month? Does it feel exhausted, and upset and, and really down?' And there were all those sorts of questions that you just don't know, as well as all the, the sort of long-term medical questions about, 'How will the bones develop? How will the organs develop? Will there be any deformities, facial deformities or general bone deformities? Splenectomies?' All sorts of questions. And if you read through the website and if you read through the Thalassaemia Society's book about thalassaemia, I think I stopped after about the fifth chapter, because you could read it all the way through to the end and think, 'Well, our child might get to the age of 40 and die. So conceivably we may well, we may well outlive our child.' And that was, that was very hard to take. 

So I think that I took a conscious decision eventually to stop reading and deal with it as it came up. But I think the screening process is quite, it can be quite a surreal experience because you're asked to make these decisions. And if you've had reasonably good health, if you've had, if as somebody with a minor degree of thalassaemia, if you've got through life without any problems really - just thinking, 'I'll never be a long-distance runner' or, 'I'll always struggle to play a full game of football' - that isn't really a big deal in life. But it is very hard during the sort of screening process to address all the questions, because you do find your mind sort of races away almost to the end of what might happen.

Footnote' This father and the mother are both beta thalassaemia carriers. They were told their baby would almost certainly have beta thalassaemia major, but he has not yet needed any transfusions, and it is now unclear whether he has beta thalassaemia major or a less severe form of the condition.
 
 

Professional learning: Most professionals they met were very caring and were doing their best for...

Professional learning: Most professionals they met were very caring and were doing their best for...

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Mother' It's also a matter of you not being scared to say, 'I'm not happy about what x has told me. I'm not happy about what y is saying to me. I want a second opinion. I want to move hospitals.' And it's, it's sort of knowing your rights as a patient as to what you can say. And, you know, what's more important than having the treatment that you think you should have when you're, you know, having a baby? There's nothing more important than that. And when you get together with the right professionals, as it were, and when you see how caring they are towards, towards you as a pregnant woman or towards your unborn baby or, you know, once the baby has arrived, then I think it just sort of reinforces your belief that the majority of people out there are doing their best for their patients. 

But if you don't feel you're, you're getting the absolutely the best treatment or the best advice, I'd urge anybody to talk up. And that's what I say to friends and relatives who are having babies, who haven't had, you know, the pregnancy problems that we've had. But, 'Just don't accept what somebody tells you if you don't agree or understand it, you know. Don't be frightened to ask questions.' And we used to go armed with pages of questions to ask.
 
 

Professional learning: When they opened the letter telling her she was a carrier it was too late...

Professional learning: When they opened the letter telling her she was a carrier it was too late...

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Well, the thing is that the first, literally the first thing we did - and I didn't open this letter from the haemoglobinopathy nurse until about half past nine at night - we'd worked late or we'd been out and we came home and suddenly I thought, 'Oh, there's this letter.' And the letter was sent to me by my married name, and I use my maiden name, so I knew it was something connected with the, with the pregnancy. And I knew that obviously it was about the time we should be getting the test results. So I sort of opened it with a certain amount of trepidation. 

And then what can you do at half past nine at night? Well, the first thing you do is hit the Internet. And the - I think we went to the, straight away to the Thalassaemia Society website. And there's, if you let, allow yourself to read and link up as many times as you can, you can actually find some pretty disturbing information. 

And we, it was such a shock, that I think we immediately started looking at the, on the sort of blacker side of the picture. And initially you may not appreciate the distinction between how the condition is controlled and can be controlled in the UK as opposed to, you know, the lack of medication and transfusion facilities in the Third World for example. And I think we, all we managed to do in the sort of twelve hours before the nurse turned up was scare ourselves stupid that it was, you know, if the child had the condition it was a very bleak future. And, you know, you can, you get carried away and you can look at things like life expectancy and, and things like that. And you might not necessarily - and I'm not talking about any particular website - but you might not be looking at the most up-to-date statistics or the best statistics. 

And at times when you read personal stories you can read some very inspiring ones. And certainly you made contact with somebody by email who was, who was very helpful and very supportive, who was an adult with thalassaemia major. And he, we got quite a lot of comfort from him in a, sort of over the sort of following few weeks et cetera. But you can also read some - for want of a better word - horror stories as well, which is not necessarily the thing that you should be doing when, when you haven't even got a diagnosis or a certainty. 
 
 

Professional learning: He never felt any pressure from staff over what they should do, but in...

Professional learning: He never felt any pressure from staff over what they should do, but in...

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Father' And, and my recollection is when we, when we got the letter it was, it was a sort of terrible shock because we weren't warned. We knew, we knew that obviously the blood test was, was, that it had taken place and, and the samples were being tested. 

But we got this letter. And things did move very quickly, didn't they? I mean that, you know, the next day the nurse was coming and I mean it was a, it was a very sort of confused night really, wasn't it? We were very nervous, because we knew the, you know, we knew what the odds were. And I think my recollection of going for, to the hospital to see the genetic specialist, it was very, it was very other-worldly. I remember sort of almost as she was talking to us about the testing and the results, it was almost as though she was talking to us and I was almost looking over my shoulder as to, 'Who is she talking to?' Because it felt so, I felt so detached from it. And I think, I never felt pressured that we should have, we should do any particular course. We, I never felt that we should have a CVS, although we were aware that the sort of the time limit was, was on us almost. They wouldn't be happy to do a CVS after a certain time. 

But the abiding feeling I had really, apart from feeling that it was almost, that we were, they weren't talking to us, was that you almost wish that somebody would help you and sort of say, 'Well, I think you should do this.' But of course they, they wouldn't, they wouldn't say either way, 'We think you should do this. We think you should do that.' And it was very, it was very difficult, wasn't it? I think it was just the two of us and we were agonising over things. And, just because of the timing of it all, we didn't - I mean it wasn't the hospital's fault - but we felt very pressured that we, we had to sort of make a decision, 'Should we have the test? Should we, should we not have the test?' 

And I think I was sort of quite firmly of the opinion that if a child had a condition such as Down's syndrome, as well as full-blown thalassaemia that it would be just too, it would be too much to inflict upon somebody. And we did have, and we did have terrible guilt about what we were doing. Even sort of continuing with the pregnancy, I think we felt that we'd made the decision almost for us that we wanted a child, but you know, the child didn't have any choice as to being born with such a condition. 
 
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