Screening for sickle cell and beta thalassaemia

Father - No, I was looking - no, we were preparing for the worst. So I was hoping to speak to somebody who'd actually gone through a termination and just say, you know, 'How bad was it, you know? And how, you know'?' We just needed to know. Basically at that time we just needed to know how other people feel, really. And luckily we've got some friends who said, you know, 'It wouldn't be that bad, you know.' And - but, you know, if we'd had other people who'd gone through the same situation it would be better. But again there's very few people have this symptom, do you know what I mean? So it was very hard to find other couples who, who had gone through it.

Would you have liked to meet a family where they'd gone ahead with a pregnancy where the baby had thalassaemia?

Father - Yeah, that sort of thing. I mean that, I think, I think the week before, you know, when we had the results coming out, we needed to know all the scenarios, people who'd had a termination, people who'd been successful, so we have some hope. And then some people - you know, just like - I don't know. Meeting people is a bit awkward, you know, geography-wise, but like just a phone call or a number that they can give us to call, or a leaflet or - or things like this, exactly, things like this that we can come to where, you know, all the information is just all in one place. So, yeah, I'm hoping for things like this to develop, and then all the, all the health professionals can sort of give this website and say, 'Go on this website and see all the experience that people have.' Yeah.

What sort of factors were taking part in your decision? I mean, you talked about not wanting to bring a baby in the world, into the world who was going to suffer. Were there other things you were thinking about? I mean, I don't know - religion, or family pressures, or anything like that?

Father - For our purpose, it's just the baby and, you know, I mean you just sort of don't want the baby to live a life sort of like that. Because it's, you know, our perspective life is about fun and, you know, and doing things really. We just don't want it to, to live like that. Because in that situation I think - another experience we have is that because we, the family's very small. It's just me and my wife and my mother, so we don't have that extended family network to support the baby. Can you imagine when we died, you know, who's going to, where's his or her networks going to be? And if you're carrying a sickness, you know, who's there for them? So it's that sort of thing that we can't, we can't sort of take the chance with.

Video and audio clips read by an actor.

In fact I even met someone who has sickle cell anaemia, whose child had, whose small child has got SS [sickle cell anaemia], you know, like four, three, four years, who had a stroke, you know… I thought, “Oh well, I wouldn't want my child to go through this, you know, with SS, all this,” because I saw the features of the very severe form, you know… 

I mean, with SC [haemoglobin SC disorder] - I know it's a mild form… most of what I have is pain but I don't have so much chest infection, you know… I maybe have a chest infection but it might just be a cold. But I didn't have - because people have crises in their chest. I've heard of people doing that, when I was in the hospital. So when I was in the hospital I've seen people with SS. They come in quite often, more than SC. And you see they might be there, they might be there longer than you. They are there, in and out, maybe once or twice a month or something like that. They were in and out, you know. So I just thought, “Oh no”, you know, that I wouldn't want that. 

Footnote - Haemoglobin SC disorder is a type of sickle cell disorder in which the child has inherited hameoglobin S (sickle cell) from one parent and haemoglobin C from the other. Whilst it is a type of sickle cell disorder, it is a distinct condition. The symptoms can be similar to sickle cell anaemia, but SC disorder is often (but not always) milder in its effects than sickle cell anaemia. 

And it was quite difficult, it was so difficult for me to go through. Even up till now, there's some times it's like - because I didn't know - it's like sometimes when, if she's just crying, when she was teething, I might just think, 'Oh, maybe she's having a crisis.' And thinking, I was like, I got so panicked, I couldn't sleep, I was like crying most of the time, 'What have I done to her?'

But the centre was very very helpful. The staff in the sickle cell centre was very very helpful to me. And my family as well were very very helpful, supportive and... 

After she was, I think it was like at the age, before her first birthday I found out I was pregnant again. I had to have an abortion because I felt I couldn't do it any more. My boyfriend was so upset, he was like, 'Why are you doing this?' I was like, 'I can't have another child with sickle cell.' So up till now I'm so scared to have babies. I don't know, I haven't like faced it, even though they say they can do screening and things to do - it's like for you to know beforehand or whatever if you want to go on with the pregnancy. I'm still a bit worried that--

So with that pregnancy you, you didn't have diagnosis to find out?

No. I didn't even wait. I think I was like three, when I found out it was like about two months, coming to three months, I just like took it out. He didn't even know. I even went behind his back to do it. He was so upset when he found out that I had an abortion. Because I couldn't, I told him later, I said, 'I don't want to have another child, because I know what I went through with what I had for my daughter. I don't want to go through it again, please.' So my friends - my cousin was like, she was very supportive and she went, 'It's up to you. Whatever you want to do you can go and do it.' So that's what I did. I just had the abortion. 
 

Video and audio clips read by an actor.

Well, my husband is always very supportive. And he always leaves - most of the time he makes me, he lets me make the decisions, basically, you know. Because initially I was, we had to have a very big conversation. He kept on saying, “It's okay to keep the baby if that's what you want.” Of course I kept on thinking, “I think I'll have a termination.” “No, I don't think I'll have one,” you know. “I think I'll have one.” And he kept on saying, “No, well-”. I mean, to him it was, he was like in between as well.

He said, “Well, if from what you've read and everything and what you know, if you want to have a termination I will be there for you. But if you don't want to, we'll both be there, we'll both be for the child anyway. And as we have two already, they both have SC disorder, you know, so I'll be there for the child.”

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. 

English translation, video and audio clips in Mirpuri, read by an actor.

I also became pregnant very soon, and then she said that, 'You are both carriers and you will have to get the baby checked.' Then my husband said that both my mother and father-in-law were both carriers, they Mashallah had six well children. My husband said, 'Don't worry, leave it, we don't want to have it checked.' First he said we will, then he said, 'We won't get checked because all us brothers and sisters are well, and whatever Allah wants'. Then we didn't have checking, for my eldest son. Mashallah he's ten years old, we didn't have him checked. After he was born, he gradually became pale, so they checked him and said, 'He's not major, he's a carrier.' 

Then my mother-in-law, even though she was trying to keep control, she became pregnant after a long time. Her children were all grown up, the youngest was about ten, eleven years old. After that, she didn't know and became pregnant and she had a son, my young brother-in-law. He was major. He is approximately my son's peer. Then he was major, and we were scared.

The second time round [in pregnancy] I had it done, but I was late, because it was about four and a half months. Then they said, I didn't even know I was pregnant. When I found out, I had checks, went to [the city], had everything done. They said that, 'Your baby is major.' Then [the counsellor] came to our house and said, 'We're not forcing you, don't force anybody, it's your choice. You can't have a miscarriage [termination] now, it will be like giving birth to the baby.' That scared us and we said, 'Obviously that's like murder, and it's our own fault.' I should have had checks at eleven weeks, I should have found out earlier. Now everything's formed. Every one knows you're pregnant, wherever you go. So we didn't go, we didn't have it done. Then he was born. 

Footnote' some Islamic scholars teach that termination for life-threatening conditions is permitted up to 120 days of pregnancy, at which point the soul enters the unborn baby ['ensoulment']. After that it is forbidden. The mother in this interview used the English word 'miscarriage'. However, it was clear from the interview that she was using this term to mean an early surgical termination. She distinguished between this and termination later in pregnancy by induced labour, which would not have been acceptable to her.

Video and audio clips read by an actor.

I was well informed, but I always just have this in my head, that all the people with sickle cell anaemia that I met at that time, you know, it's, “This is how they look like”, you know… Even if you look at the literature most of them, when they talk about sickle cell, they never talk about the fact that, “Oh, there's been some people that have lived a normal life”, you know. They will just talk about, “Oh, these are the things that can happen, you know - like pain, infection, stroke, kidney - all those things, all the things that might possibly happen are the things you read, basically, you know. So I… just had it in my head that, “Oh, SS [sickle cell anaemia] is like this”, you know. So when I was even pregnant I just had this thing that, “Oh well, knowing that, I don't know how I'm going to cope.

I mean, although they gave me a choice, in a way I would have preferred that I was able to mention to people that, “Oh well, not everybody turns out this way”, you know, and to be a more positive side, to be honest. Because in a way my mind was presented with more of a negative side, basically, and that's what I had in my head, and that's the presentation they gave me. And my idea is that, “Okay, the child has SS. Maybe this is what I will do”, you know. And I didn't get so much positive thing about something good might happen out of it, basically.

Footnote - the symptoms and complications associated with sickle cell disorders vary from person to person, and it is impossible to predict how each individual will be affected.

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.
 

Have you got messages for other parents on, based on your experiences? What would you say to people who are going through this now?

Oh, get as much as information. It's not a sin. Trouble them. Yeah, you understand? You want more information about it, because if you don't have information you don't know what to do, you don't know what you're putting yourself through. So you just need to get as much, as much, as plenty of information you need. It's very, very good. Yeah. Or else you are at risk, and you don't know you are at risk. Because I didn't know I was at risk. Now I am, now. Because there's not enough information and I didn't know the child can have a stroke. I didn't know. Now she have, and there's the chance she can have it again. So, we need more information to make our decision, yeah.

Footnote - stroke can be a complication in both sickle cell anaemia and less commonly in haemoglobin SC disorder.