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Interview 23

Brief Outline: Couple knew before marriage they were beta thalassaemia carriers. His sister and two brothers died of beta thalassaemia major. They have tried pre-implantation genetic diagnosis to conceive a baby unaffected by the condition, so far without success. Video and audio clips read by actors.
Background: Married couple with no children. Female partner aged 37, office manager. Male partner aged 51, engineer. Ethnic background/nationality' Both Italian.

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This couple knew from childhood they were both beta thalassaemia carriers, and both had family members affected by beta thalassaemia major. The husband had two brothers who died in infancy from the condition and a sister who survived to the age of thirty-one. His experience in particular has convinced him that he would not want to have a baby with beta thalassaemia major and see them suffer as his sister did. Even though she had a very fulfilling life in many ways, the burden on her and on the rest of the family of constant blood transfusions and infections was very heavy. He feels that it is not right to take a gamble on the health of his future child when he knows there is a high risk (a 25% chance) of having the condition.

As Catholics the couple do not want to have prenatal diagnosis and then end the pregnancy if the baby is affected. However, they feel comfortable with the idea of using pre-implantation genetic diagnosis (PGD) and in vitro fertilisation (IVF) to conceive a healthy baby. They were told this was not yet available in the UK, and their GP at the time was not very well informed about the condition or sympathetic to what they wanted to do. After some delays, the Italian health service helped them obtain treatment.

Their first attempt at PGD was unsuccessful, because the diagnostic tests on the embryos were inconclusive and they did not want to risk implanting an affected embryo. Since then, a law has been passed in Italy which has led to all fertility treatments being banned. This includes a new technique the couple were hoping to try, where the unfertilised eggs are tested, before an embryo has been created. They are now hopeful they may be able to have PGD for beta thalassaemia major in the UK, as a new service is being developed. 

 

He knew from childhood he was a beta thalassaemia carrier. She was tested when she was unwell as...

He knew from childhood he was a beta thalassaemia carrier. She was tested when she was unwell as...

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When did you find out you were carriers - have you known that...?

Woman' For a long time. Since I was a teenager.

Man' Same thing. Because we had thalassaemia cases in my family. My sister passed away. She had it. So it was known to me - at least I have known since I was a teenager as well.

And how did you find out?

Woman' My GP and hospital requested the test following a long illness which left me bedbound for several days. 

And did you have any family members who had the condition or were carriers? 

Woman' No, no, only second cousins, third nephews. So yes, you do know of cases, because I come from a small village. I've got two brothers and five sisters - but none of my nephews and nieces have got thalassaemia. 

 

They see pre-implantation genetic diagnosis as a responsible way to protect their future child's...

They see pre-implantation genetic diagnosis as a responsible way to protect their future child's...

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Man' I just feel for me like I feel for other people. I do leave the individual to deal with all these issues. And if I'm against abortion, or I don't want to proceed, it's very personal and it's my choice. And even if I disagree, I entirely respect someone else that wants to go down other avenues. And what I strongly feel about it is that that should be available for everybody… Because I might be a believer, someone else may not be… I mean I'm firmly in favour of rules or procedures, very strict rules and procedures which have to regulate all this area… But, on this particular case, then I leave it to the individual. It's your conscience that decides. 

And in moral and religious terms for you the pre-implantation diagnosis is much more acceptable?

Man' Yes, but I mean not only for me morally but also physically. I think that there is quite a substantial difference if you are actually conceiving, you have conceived and you are going through the abortion without knowing - or you have tried to your best to avoid that possibility. I mean, here they advise that if you are pregnant you don't have to smoke, but no one tells you if you're getting pregnant and you know when you get a disease, to do everything you can to prevent it, in a very easy manner. So you take all the precautions. You're only doing it because first of all you want to protect and preserve the life, even, of who is the future being, of your offspring, and just like any other parent in any respect. So when I'm doing this procedure, I feel like I'm doing exactly the same. I'm trying my best not to smoke, not to do all these things that potentially we know could be harmful to the child.

Woman' And the same rule applies, not only for thalassaemia, if you have a condition and the only hope to save the child is bone marrow transplantation, or a number of operations which can be done can be improved by having a sibling or by being pregnant. And the general feeling is that somehow the church does not allow this. Because although you try the very best to save your child, why can't you try? If you can have any possible operation or replacement of an organ or whatever, to make one life better, why can't you do it with the help of for example a sibling, or with the help of technology? But not because you're worried about aesthetics. Because you're concerned about the health, because you want to try and give the best start in life for the child… And this is of course one of the questions which you just ask yourself over and over again. And that's why you do ask yourself, why is PIGD a better solution than just trying for it and then it may go well or it may not, and then you take the consequences, or you decide on the consequences, you decide on what you want to do. And in spite of being a practising Christian, and the church disagreeing with these decisions, that doesn't make me un-Christian, in the sense that just because I think I've got this belief, I hope it doesn't make me a bad person. 

And I just hope that I do it for the right reason and not because I've got great aspirations for the child. So that's the reason why. One friend of mine, actually, did ask me - I think it was when, after the negative result of the PIGD - she did ask me why would I go through this procedure when I would have to do an amniocentesis anyway, and if the test, if the diagnosis proved to be wrong and I was carrying an unhealthy child, I may have to choose the abortion, why would I not just try to get pregnant and then make that decision? Which, maybe in theory, is a very

 

Their GP gave them little help in getting tests done or finding information. They feel PGD is...

Their GP gave them little help in getting tests done or finding information. They feel PGD is...

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Woman'  Maybe I would have liked a bit more sympathy from my GP - try to help me, try to help us, in finding names or help with the tests. Maybe just bits of information - “Oh, maybe you could find out a bit from here, a bit from there, or maybe this will involve so much.” And instead he was a complete barrier.

Man'  There isn't, I wouldn't say awareness, but priority for the fact that having these screens for inherited diseases is prevention, basically, at the end of the day, in the crudest way that you want. Not because you want a perfect world where everybody's got to be perfect, but knowing of such devastating illnesses that you are aware and potentially are very, very high risk, then why not? If you want to make a comparison, if in your family there is a high incidence of, you know, breast cancer, then now it's acceptable, okay. The GP says, “Oh, okay, you can go and have this and that.”

So it's also the acceptance and the way that this is perceived. I think its seen that someone going to the GP to ask for genetic screening for pre-implantation is just like a sort of fancy thing, very expensive. Of course they always have to allocate resources and priorities, so they probably say, “Well, it's money better spent in treating someone with a cancer.” But generally at large, I wouldn't say that it's widely known. Maybe in the future it will be much wider availability and also acceptance on that.

 

The laboratory staff could not be sure that any of the embryos were unaffected. The couple had...

The laboratory staff could not be sure that any of the embryos were unaffected. The couple had...

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Man' The treatment actually went very well. They harvested seventeen eggs. Six were fertilised. Of the six embryos they chose five for the genetic screening, and it was one of those rare occasions when they had so many eggs to carry out the exams, on the five embryos that they actually chose to analyse, in none of them they had a conclusive answer. Then the sixth embryo as well, contrary to what they anticipated before, it developed to the eight cells. Anyway, in all of them there was a non-conclusive diagnosis, which was obviously something that luckily we'd discussed. 

Obviously when you enter into such a treatment, you don't really want to think about the possibility that they're not favourable, and so she says, what would we do if we were in that position? And so we actually decided beforehand what to do, because it would have been extremely difficult to make the decision there, you know, five minutes from implanting what you do, dealing with such a dilemma. And that was it. 

So they'd never had such a result before and she said, “I don't think that I will ever have something of this kind again in the future”, [laughs] because it was all against the odds. And anyway, we decided not to implant any, despite we were given the opportunity to implant all of them, six of them and then to see how many would actually, if there was a pregnancy, if it was a multiple pregnancy, and then to decide at a very, very early stage to do this test. 

I don't know if it's a particular form of amniocentesis, because they said they could do it the first eight weeks, and then have the abortions if needed. We didn't know beforehand all the technicalities of the various procedures. Because not even they anticipated anything like that. We also knew that if there was a successful implantation after a positive diagnosis, we would still have to go through the amnio and so on. 

Is it particularly difficult with thalassaemia to detect in pre-implantation screening?

Woman' It's even more difficult than sickle cell, and that was the reason why, when we first applied, that we had to wait such a long time to have the tests, the possibility of being admitted, because they were waiting for this particular piece of equipment to arrive.

Man' The technology to do it, so we actually had to wait for well over a year before they said, “Okay, we can try to go ahead.” Because they said, “Yes, we will do it, but when we have got the facility to do so”, which was forthcoming. They had already in place for other illnesses, but not yet for the thalassaemia.

Woman' Thalassaemia has always been the most difficult, and not just here, but where we had it done, because of the need to have this specialist piece of equipment that would analyse the cells.

 

He lost two brothers to beta thalassaemia major, and a sister who died aged 30. She had a...

He lost two brothers to beta thalassaemia major, and a sister who died aged 30. She had a...

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I mean, what was it like growing up with a sister with thalassaemia? How did it affect family life?

Man' Oh, in every respect, in every respect it was what really dictated most of everything. And we were the first four - well, living at that time there were three brothers. And when she was born - my parents had two younger brothers, who were definitely affected by thalassaemia, who died when they were just about two. An earlier brother of mine died when he was - of polio. And that was the third brother. He died when he was just over a year of polio, so something unrelated. And then there were two brothers that were affected by thalassaemia and died when they were just a couple of years old. And then my sister, she was the first female in the family, and she was obviously affected by thalassaemia. 

I remember I was thirteen, fourteen at the time… At the time these cases were starting to be treated somehow, because before, just like my younger brothers, they basically died. They tried to give them blood transfusion at the end, but there was nothing really that they could do. And she started to have blood transfusions when she was not even four years, three years and a half, until she died nine days short of her thirty-first birthday. 

And everything - I mean, it's affected all of us and all the family, despite she had the most wonderful and fulfilling life, because she worked as a social assistant and social worker and so on. But what it really meant, apart from us, was for her. The sufferings, the constriction, are something that unless you live them - and when you're living them you also live the experience of the ones that are in the same boat. And there were many. And their problems and their concerns and worries, they were, how shall I say, in a way shared in common. Because it was obviously very easy to relate to them. When you live it day-by-day, week-by-week, month-by-month, year-by-year, you know, it's something that sort of bonded you also. And it's relentless. It's not something that you forget for a day. Not even for a moment, every, every single moment of the day, always, with all the things that they have to do to try to have a reasonable good quality of life, if you can say it. 

My sister, she probably only lived to thirty, thirty-one years, but she had such a fulfilling life, that maybe if I should live for a hundred years I wouldn't achieve. But I'll never forget, I'll never forget the sufferings that she went through and what that meant, to her as well. I mean I would have given my life for her, just for one day, to be able to wake up and say, 'I don't have anything'. Just for one day. 

 

They bought his sister one of the first slow infusion pumps for desferrioxamine. The family...

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Man' So there are wide ranging issues and the fusion pump, the therapy for the reduction of iron, that is every day a slow infusion pump. I actually remember that I bought the first slow infusion pump, here in the UK, because otherwise they basically had to be hospitalised, to have the treatment. And what they would normally do was to keep them in hospital for three, four days, basically have a sort of dialysis, because it was injected in veins instead of intramuscularly when they were doing it at the hospital - get rid of it, then it builds up, and so on. Whereas with this other therapy that you could do at home every day, the aim was to keep the level steadier, instead of the usual build up and come down, which obviously had some other effects as well, I believe. 

As well as the transfusions - when the blood was available. Because I learnt to hate Christmas and all the other holidays, and the terror of the school holidays, because my friends and school mates they were the ones that would most often come to donate the blood for my sister. Because in those periods, I mean Christmas and other holidays, blood was very, very scarce and they had to wait and wait. And I've seen what the effects of someone that - I don't know how - can actually survive with the values of haemoglobin of six and so on. But I've also seen all the effects that gives you - the shivers, you swell up, and not to mention the reactions to transfusions.

 

Professional learning: He sees a 25% risk as being like putting your child in the middle of a...

Professional learning: He sees a 25% risk as being like putting your child in the middle of a...

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Father' If you are aware that you have something, if for instance you are diabetic, then you don't do certain things. You know it. And I take the same approach on this one. I know it, I cannot just say, “Oh, I don't know it”, otherwise it becomes irresponsible and...

Mother' I can't say, “It's only twenty-five per cent.” 

Father' “Only twenty-five per cent, the chances”. I was asked by relatives - not obviously my brothers, because they are too aware of what it means - but even close relatives that more or less are all practising Catholics and so on, and say, “Oh, how can you really [do] this? You know what you're doing?” And to one of them, I mean, I told her very bluntly. I said, “Well, tell me first of all what twenty-five per cent means to you.” And I say, “To me it means that I've got a four-lane carriageway, I've got a child and I put him in one of them, and I know that in one of those a car will come fast.” I say, “This is twenty-five per cent to me.” 

I said, “To you, what does it mean? Is it just a very distant equation or proportion?” I say, “Twenty-five per cent in simple terms means this. You've got a child - then if you believe, or if twenty-five per cent is such a little thing, put your child and yourself in there.” And I explained why I told 'yourself' as well. I say, “And you know that in one of those four lanes one car will come and can run you over.” She didn't say anything. And I said, “Yourself as well, to tell you that you are not only deciding the fate of your child, only for him, but for you… Both will be hurt, but you don't know who is going to be hurt more.” 

And then I add, “Do you think that it's fate to put your child in the middle of the road in a four-carriage way and know that one car is coming? This is fate?” I said, “This is irresponsible for me, or totally disrespect of life. So this is not religion.”

 

Professional learning: They were shocked that an Italian doctor told them living with beta...

Professional learning: They were shocked that an Italian doctor told them living with beta...

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Woman' The very first consultation we had in Italy, she said, “Oh well, if you tried and you were to have an unhealthy child, you've got, okay, only a twenty five per cent chance, one in four children will be unwell. But today there is not a problem. You just go to the hospital to have the blood transfusions every month, and that's it. It's like going to the snack bar and going to the pub and ordering a coffee.” That was very easy for her to say that….

Was her professional background as a haematologist?

Man' Yes, she was… And I've known that particular doctor for years, because she was just like a junior doctor, registrar, when she started well over thirty years ago, when my sister regularly had to attend that centre. And she knew me very well, as well. And to hear this sort of advice, it was something, I mean, shocking to say the least. In fact, I very rudely and impolitely said in some ways, I actually told her that what she was saying had very little to do with really advising and telling the real true facts - and very impolitely, very rudely, I do admit that, but that's what I felt, and said, “Well, you sound like someone that is just after looking after job protection for your post”, you know, because I was absolutely shocked. 

Apart from the fact that my sister only died a couple of years earlier, but having unfortunately had the experience of living for thirty years and more with what thalassaemia really is, to hear this sort of superficiality and, you know, blood transfusion just like you're going to the shops to have a cake, or a sweet, and all the rest. I mean, it was something which really shocked me, and to this day still affects me, and particularly does because when we were having the treatment in Italy, the fertility clinic is actually on the ground floor of the centre, and obviously I don't have particularly good memories of that place. But, leaving that aside, I was really shocked by the number of young couples and obviously young children, going in and out of the thalassaemia centre, because they were obviously affected by such a terrible disease. And particularly in the area where we come from, there is a really strong awareness of this, and the reduction of the incidence is only due to making people aware of that.

Footnote' The aim of the UK National Screening Programme is not to reduce incidence, but to offer timely antenatal sickle cell and beta thalassaemia screening and diagnosis to all women (and couples) to facilitate informed decision-making.

 

Professional learning: For them pre-implantation genetic diagnosis is compatible with their...

Professional learning: For them pre-implantation genetic diagnosis is compatible with their...

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Man' I just feel for me like I feel for other people. I do leave the individual to deal with all these issues. And if I'm against abortion, or I don't want to proceed, it's very personal and it's my choice. And even if I disagree, I entirely respect someone else that wants to go down other avenues. And what I strongly feel about it is that that should be available for everybody… Because I might be a believer, someone else may not be… I mean I'm firmly in favour of rules or procedures, very strict rules and procedures which have to regulate all this area… But, on this particular case, then I leave it to the individual. It's your conscience that decides. 

And in moral and religious terms for you the pre-implantation diagnosis is much more acceptable?

Man' Yes, but I mean not only for me morally but also physically. I think that there is quite a substantial difference if you are actually conceiving, you have conceived and you are going through the abortion without knowing - or you have tried to your best to avoid that possibility. I mean, here they advise that if you are pregnant you don't have to smoke, but no one tells you if you're getting pregnant and you know when you get a disease, to do everything you can to prevent it, in a very easy manner. So you take all the precautions. You're only doing it because first of all you want to protect and preserve the life, even, of who is the future being, of your offspring, and just like any other parent in any respect. So when I'm doing this procedure, I feel like I'm doing exactly the same. I'm trying my best not to smoke, not to do all these things that potentially we know could be harmful to the child.

Woman' And the same rule applies, not only for thalassaemia, if you have a condition and the only hope to save the child is bone marrow transplantation, or a number of operations which can be done can be improved by having a sibling or by being pregnant. And the general feeling is that somehow the church does not allow this. Because although you try the very best to save your child, why can't you try? If you can have any possible operation or replacement of an organ or whatever, to make one life better, why can't you do it with the help of for example a sibling, or with the help of technology? But not because you're worried about aesthetics. Because you're concerned about the health, because you want to try and give the best start in life for the child… And this is of course one of the questions which you just ask yourself over and over again. And that's why you do ask yourself, why is PIGD a better solution than just trying for it and then it may go well or it may not, and then you take the consequences, or you decide on the consequences, you decide on what you want to do. And in spite of being a practising Christian, and the church disagreeing with these decisions, that doesn't make me un-Christian, in the sense that just because I think I've got this belief, I hope it doesn't make me a bad person. 

And I just hope that I do it for the right reason and not because I've got great aspirations for the child. So that's the reason why. One friend of mine, actually, did ask me - I think it was when, after the negative result of the PIGD - she did ask me why would I go through this procedure when I would have to do an amniocentesis anyway, and if the test, if the diagnosis proved to be wrong and I was carrying an unhealthy child, I may have to choose the abortion, why would I not just try to get pregnant and then make that decision? Which, maybe in theory, is a very

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