Screening for sickle cell and beta thalassaemia

Going back to sort of the heel prick, and what you understood about what they were testing, I mean, what information did they give you about the heel prick? Can you remember much about what you had?

Mother: No. Because we didn't have really too good a time in hospital after.

Father: No, because you had a rough time, didn't you?

Mother: So it was all, it was all a bit of a...

Father: We just took it that that was just part of the normal having a newborn baby. That, you know, that was just a treatment they do as a standard.

Mother: So they --

Father: They take bloods, do the tests. And then while they were doing that we were more concentrating to get, get the wife --

Mother: But she had quite a few, she had a couple of heel pricks because she was jaundiced. So they needed to, I knew that it was, it's, they were looking for the - is it the clotting? She had two or three, didn't she? She had the normal one for the testing, and they kept coming back because she was jaundiced and she was [laugh]

And you, did you have a rough birth then?

Mother: Yes [laughs].

Right. So your mind is on other things completely than the detail of what medical tests are being carried out?

Mother: Yes. Well, yeah, I mean wanting to tend to her, and I ended up having an emergency caesarean. So the shock of having to have that, not being able to move for a couple of days after, the baby being jaundiced, picking up an infection, having high blood pressure, and then finding a heart murmur in her wasn't really a [laugh] very first good week.

Father: Within the first three days or something, wasn't it?

Mother: So we didn't, it was all a bit of a blur. The sort of, it was a shock when the letter come through the post. Because I think it was just one thing out of the week after she was born was we didn't give a second thought. We knew obviously that they'd come and they'd done the test. But with everything else that went on in hospital - I mean we probably, we probably did have leaflets. And I think if we'd had had a nice delivery and sort of, you know, a nice couple of days, then I don't know, it might have been different. But we, it's just one thing we just didn't give a thought to. It's just something that hospitals do, mainly for their records, not for anything that - unless there is a problem obviously that we need to know about.

I mean, in the letter that you got, what did it say in the letter can you remember?

It said, 'Your son has - in his heel prick test, results show that he's got abnormal' - is it 'abnormal haemoglobins'? It didn't say that he was a sickle cell carrier. I just went through the leaflet and whittled it down, and knew it couldn't be any of the other ones. It could only be sickle cell. And it was case of 'Whoa!' Because I mean, I just didn't expect it. And it said, yeah, 'He's trace of haemoglobins - nothing to worry about, your child's health is fine. We would just like to talk to you about it.' But that doesn't reassure you. It really doesn't reassure you. It puts a spanner in the works and frightens you, to be honest. It didn't reassure me at all. 

And it said at the bottom of the letter, 'If you want to ring me, ring me.' Well I did. I didn't wait for her to come and see me. I rang her. I wanted to know there and then. Because like I say, when it comes to my children, I don't mess about. I want to know, there and then.

Did the letter say she was going to come and see you anyway?

Yeah, it said she was going to come and see me in January and this, that and the other, so. And then so it was a case of I then had to wait for her to come out to see me. But she explained everything to me and I did feel a lot more reassured, a lot more at ease [laughs].

Footnote - the word 'trait' is sometimes used to describe carrier status. Sometimes it becomes confused with the word 'trace' which can give the wrong impression that it is insignificant.
 

Mother: We knew nothing about it. We knew nothing about any, certainly not any sickle cell. We were in hospital, the baby had the heel prick, and that was it. And then it was probably, what would it have been, four weeks?

Father: Four or five weeks after.

Mother: Four or five weeks later, we get a leaflet and a letter through the post, don't we, telling us that the baby's got abnormal blood cells. 

Father: Haemoglobin something.

Mother: Yeah, abnormal haemoglobins, and that we had to go and take her back and have another heel prick test done. And with this leaflet was sickle cell. In my mind predominantly it is not our ethnic background. And plus your baby's five weeks old. We didn't know anything about it. And I don't think anybody would have pointed out the fact that she could be suffering, she could be a carrier of sickle cell, because of us being white.

Had you heard about the condition before then?

Mother: I knew about the condition, yeah. There was a work colleague that had sickle cell. So it frightened me, and as soon as I'd sort of come to terms with the fact that there was something wrong with, with the baby, and I knew how ill this work colleague had got through it. And I didn't know whether she had it, whether - we didn't know what it was. I mean, I think it was, it did say carrier.

Father: We did hope to start with that it was just a mix-up on the tests, didn't we?

Mother: Yeah. It just, it could have been that. But we, I knew, the gentleman at work, I knew how poorly he was with it. Blood transfusions and... As soon as I'd realised, I thought, oh, everything was racing straight through your head. So it was panic then. I think it was something like two weeks, wasn't it, that we had to go back. Oh, no, sorry, we didn't have to go back, did we?

Father: No, the lady came here.

Mother: There was, we had to make an appointment for the lady to come here and test - test us, rather than retest the baby, to test us.

Footnote: often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested.

Father - I think it's always better to have, as you say, have a phone call and have someone talk to you, rather than have a letter, an open letter and think, 'Oof. What's this all about?' Which is, you know, the situation that we found ourselves in for the first, for the first 24 hours, and then waiting for the results and whatever. But the most important thing for us was actually speaking with somebody, and having somebody explain everything to us, you know? So. And maybe with it being more of a foreign, a foreign disease and perhaps it's with foreign people, it might be easier to have translators. Because my wife didn't really understand to a great degree, and obviously other people find the same situation. That might be a good thing.

Mm. So they haven't got any information in Thai?

Father - Hmm. The midwife was very, very good. She went onto a website. I mean, we haven't [er], we're not e-mail or website friendly, but the midwife got us some information off the Internet in Thai, which has helped my wife. 

Mother - Mmm.

Father - But we've asked all the way through the pregnancy for translators and interpreters, but obviously [laughs] we never got anything like that, so.

Father: That's the bit that worried me, because I'd never - I'd heard the term sickle cell but I had no idea what it involved and, you know, what sort of effects it has on a person. And then when my wife says about the fellow at work and, you know, the scenario he goes through, I just panicked that that's how-

Mother: We'd have to bring -

Father: -every six, twelve months, littl'un would have to go through all that. I wasn't ready for that. But then when we was informed that she's just got the traits of a carrier and she's not going to have it, she's not going to come down with sickle cell.

Mother: I think the immediate thing was we knew that she was okay, but.

Did she, when she came to do the testing, before you got the results, did she explain about how the condition is inherited from the, the two parents?

Mother: Yes. That's what, that's what made it, it clear. We understood that one of us had got bad blood, as such, and one of us had got good blood. And that's how we'd mixed and passed it down. So we knew. Just, it was four or five little people, wasn't it, drawn on this flipchart. And looking at that, you could see how we could both pass good or we could both pass - and that really, as simple as it was, made sense. Because you're looking, you're looking at someone that is talking to you, but not really a lot in English [laughs]. I mean, you see something like that and you go, 'Okay. So that's made sense now. I'm not thick, but I don't quite understand what you're saying'. And the panic's still whirring round in your mind, thinking, 'Well, what's going to happen?' But that did make sense. So we knew that one of us, one of us had got it.

Footnote: the term 'bad blood' would not normally be used to describe carrier status. The person who is a carrier has normal blood and is healthy. Often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested. The word 'trait' is sometimes used to describe carrier status.

English translation: 

Well, it's simply because of him that I know that I myself am a carrier. Otherwise I would never have known, nor would his father. Even in my family no one knew what sickle cell anaemia was and no one knew what it meant to be a carrier. So it was when they found that my son had the condition, two weeks I think after his birth we had the results and they called us back. 

At the time this was happening at the hospital [name of hospital], I think. Because he was born in Paris, and at the time they were the people in Paris who were specialists in sickle cell anaemia. So we went. There was a group which welcomed us and they explained what my son had and how one gets the condition. But all of a sudden like that it's very hard. Because I'd never heard anybody talking about it before. And it's serious, because it's an illness which is really serious. When you have a child born in good health, you look at him like all the other babies and then you realise, 'My God, he's got this and what are we going to do?' Of all the ways to try and explain to you that it was hard at that point, as soon as they explained that to me, they showed us a video to explain how it's inherited through families. And the first day I didn't see any of it, because I spent my whole time in tears.

French original:

Ben c’est tout simple, c’est grâce à lui que j’ai su que j’étais porteur moi-même, sinon j’ai jamais su, leur papa pareil. Et même au niveau de ma famille personne ne savait ce qu’était la drépanocytose, et personnne ne savait ce que c’était porteur. Donc c’est quand on a détecté la maladie sur mon fils et - deux semaines après, je crois, après sa naissance on a eu les résultats.

Et on nous a convoqués.  A l’époque ça s’est passé à l’hôpital [name of hospital] je crois, parce qu’il est né à Paris et c’est eux à l’époque à Paris qui sont spécialistes de le drépanocytose. Donc on est parti, il y avait un groupe qui nous a accueilli pour nous expliquer ce que mon fils avait et comment vient la maladie, comment on a ça.  Mais sur le coup c’était très dur, parce que je n’avais jamais entendu parler de ça et c’est grave, parce que c’est une maladie qui est très grave.  Quand on a un enfant qui naît en bonne santé, on le voit comme tous les autres bébés bien sûr, et puis là on se rend compte, ‘Mon Dieu, il a tout ça, et comment on va faire ?’  De toutes les façons pour vous dire à quel point c’était dur, dès qu’on m’a expliqué ça, on nous a montré une vidéo pour expliquer comment ça se passe avec les familles.  Le premier jour je n’ai rien vu parce que j’ai passé mon temps à pleurer.