Interview 26

Brief Outline:

The parents were shocked when newborn screening results showed the baby was a sickle cell carrier. Both parents were screened and the mother is also a carrier.

Background:

Married couple with one child aged 18 months. Mother aged 30, credit controller. Father aged 35, joiner. Ethnic background/nationality' both White British.

Our story

This couple's baby had newborn screening and was found to be a sickle cell carrier. The parents were not really aware that sickle cell was one of the things being screened for in the heel prick test. The birth had been difficult and the baby had a few health problems at first, so they had other worries on their mind at the time. They were shocked to get results in a letter saying the baby had abnormal haemoglobin. With the letter came a leaflet about sickle cell disorders. The mother had known a colleague at work with sickle cell anaemia who was very sick, so they were very anxious about what this meant for their baby. They would have preferred to get their daughter's screening results in a phone call or appointment where they could ask questions and be reassured, rather than in a letter.

However, once someone came to their home to take blood samples from the parents and explained that being a carrier would make no difference to the baby's health, they felt reassured. They found the diagrams explaining inheritance especially helpful. They received a phone call when their own results came through, telling them the mother was a carrier. Now they are able to see this as something useful to know, especially when their daughter grows up and wants to have children of her own, but not something they need to worry about.

Both parents are from white families as far back as anyone can remember, but they now understand that white people can also be carriers. The mother points out that because most people think of sickle cell as a condition affecting people from minority ethnic backgrounds, being told the baby is a carrier without any additional information might make some men think their partner has been unfaithful. This couple have a trusting relationship so it was not a problem for them, but it could cause serious relationship problems for some couples, especially just after birth when parents are feeling emotional, tired and stressed. This is another reason why the couple think written communication of results is not enough.

They tried to work out with the family where the sickle cell gene had come from. She made sure...

Were you surprised when the results came back that it was you? I mean how did you feel when you got that result?

Father' Well, we both--.

Mother'  I don't know. We were -

Father' We both sat here for an hour, didn't we, trying to work out --

Mother'  Who it could be [laugh].

Father'  - who it was. We were just virtually trying to, you know, look at Internets and then see who can trace the family tree furthest back, and see. We was chasing family, weren't we? And pushing mums and dads and going back as far as you can with each other's family to, you know, the furthest relative being alive and asking questions.

Mother'  I mean, we phoned parents. 'It's me.' [laugh] 'Is it you?' 'I don't know'. 'Well, it must be.' We don't, I mean I've said to them, 'Don't, I'm not bothered.' There's, as long you're happy, if you want to know, then that's fine. But I don't need to know. It's just one of those things.

And as far as they know there's no history of any - 

Mother'  No.

- mixed marriages or anything?

Mother'  No. I mean the only thing we were told as well was that it's European, Mediterranean.

Father'  Mediterranean, it could be, yeah.

Mother'  So it could be Spanish. But, you know, it could be - we have no idea. I mean, me and my father have sat and chatted. And we've tried to go back and he's reminisced and then he's remembered somebody else. 'Oh, but they were adopted'. And so as soon as he said that, we - there's no - I mean, presuming it's my father. It might be my mother. But either way I says, 'Don't rush off to the doctor's and have blood tests. There's no need.' I said, 'Because we're fine.'

And you've talked to your sister?

Mother' I have talked to her, yes, and a female cousin as well, and said, you know, 'Look, it could be, you could have it. You could just be a carrier. Again, there's no harm to you. But just bear it in mind.' But we, I was under the impression it was going to be antenatally as a - I just feared it was a bit more common now. It was becoming more common within the white community. So it was going to become more mainstream on testing.

Footnote' this couple are both white and both families are white as far back as they can recall. There is no evidence that sickle cell carriers are becoming more common among the white population, but with the national screening programme it is more likely that they will be identified, whereas previously they might never have known they were carriers.
 

They knew about the heel prick test, but they never gave it a second thought until the letter...

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.
 

They did not understand at first what it meant that their baby had 'abnormal haemoglobins', and...

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.
 

The counsellor explained what being a carrier meant and reassured them the baby was healthy.

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.
 

They are glad they discovered the baby was a carrier, but the mother worried her partner might...

Father' Now that we know that littl'un's got, well, is classed as a carrier or she's got a trait in her, then I'm glad that we know now because --

Mother' Of her future.

Father' - in future it's something to sit down and just go through it and warn, just in case there's complications when she has children herself. Just in case there's, you know, there's a health risk there to future grandchildren. I'm glad. You know, I'm happy that we knew now. It was a shock, and it was quite stressful to know at the beginning, because with your children you go through the worst, don't you, thinking, you know, anything. Children get a cold and you worry.

Mother' To be honest, the most stressful thing about that was the in-between. It was the sheer panic in my eyes of looking at  my husband going, 'She is yours. She is yours'. There is, you know, there's - because of, I knew sickle cell being mainly in the black community. And I don't know, he could have thought that I'd been dishonest [laugh]. I mean you --

Father' We did speak about this.

Mother' Yeah. You do look, you do look at the baby and you know that she is both of ours. But no, there could have been, if he wasn't as understanding, if he wasn't as good a man as what he is, then I dread to think. That's the only thing. That's the only thing that went through my head to begin with was, 'I know you. I know you trust me. I trust you. I haven't got to panic about this.' But it's human nature.

Mother' And I knew that I'd got a good marriage and a good husband. But what did keep going through my mind was, 'What if, what if'?' I could have been black and blue by now and out that door with a newborn baby, nowhere to go. You sort of - I know your mind spirals, but it could easily happen.

Father' You read it every day, don't you?
 

She wasn't sure if anyone needed to know they were carriers if she or the baby were ever ill.

Mother' We've - at the time, I suppose everybody that we were, that we'd seen and spoke to about it knew about it anyway. But it's never, it hasn't come up since. It's, my one question was that, 'Have I, do I need to tell people about this? Do - if I'm ever ill or poorly - do I need to tell anyone if she's ever ill or poorly?' And it's 'No' because it makes it, it's not that sort of - because you're only a carrier, you're just carrying a few of the oddly shaped blood cells round that together can cause the disease if mixed with someone else that's a carrier, that's it. As black and white as that. 

That's what it is, and I think that's how we think of it. And it's never ever brought up, it's just never mentioned. Because she's had colds and chest infections since and they're more important than being a sickle cell carrier. If we don't need to notify people, we don't need to tell anybody, and it's not going to cause any illness or make any illness worse, then, no, it's just something that will just sort of sit in the background, up until either we decided to extend the family or we're waiting for grandchildren [laugh]. And I think that's the only times that it will come up.

Footnote' generally a person's health is not affected by being a sickle cell carrier. There is a risk to carriers of "sickling" under situations of very severe oxygen deprivation. The situation that people are most likely to encounter is oxygen deprivation during anaesthesia. It is therefore useful to have a card to show to health professionals stating that the person is a carrier (for example if emergency surgery is required). 
 

Professional learning: After a difficult birth, she did not pay much attention to the heel prick...

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? [dog scratching] 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.
 

Professional learning: She knows carriers are healthy, but she is not sure whether health...

Mother' We've - at the time, I suppose everybody that we were, that we'd seen and spoke to about it knew about it anyway. But it's never, it hasn't come up since. It's, my one question was that, 'Have I, do I need to tell people about this? Do - if I'm ever ill or poorly - do I need to tell anyone if she's ever ill or poorly?' And it's 'No' because it makes it, it's not that sort of - because you're only a carrier, you're just carrying a few of the oddly shaped blood cells round that together can cause the disease if mixed with someone else that's a carrier, that's it. As black and white as that. That's what it is, and I think that's how we think of it. And it's never ever brought up, it's just never mentioned. Because she's had colds and chest infections since and they're more important than being a sickle cell carrier. If we don't need to notify people, we don't need to tell anybody, and it's not going to cause any illness or make any illness worse, then, no, it's just something that will just sort of sit in the background, up until either we decided to extend the family or we're waiting for grandchildren. [laugh] And I think that's the only times that it will come up.

Footnote' generally a person's health is not affected by being a sickle cell carrier. There is a risk to carriers of "sickling" under situations of very severe oxygen deprivation. The situation that people are most likely to encounter is oxygen deprivation during anaesthesia. It is therefore useful to have a card to show to health professionals stating that the person is a carrier (for example if emergency surgery is required). 
 

Professional learning: They received newborn screening results in a letter with a leaflet in...

Mother' Don't drop a letter in the post as first contact. I know you're a number really to the NHS, because they don't know individual cases. But that was, that was too much shock, a) because you think there's something wrong with your child. And you mention blood and you get panicky. It's not like a, 'Well, we think your baby's got a blocked ear.' And especially with her having jaundice as well, it was a bit of a shock. And then there's, there must be something better than highlighting a leaflet. I appreciate that - I mean we were very, very well looked after, very well looked after-

Father' Mm, yeah.

Mother' - with everything that had gone on, and I do appreciate hospitals are busy and understaffed. And admin departments are all the same in every company, every office, really. But I don't think as a first point of contact about something that not everybody does know about, whether they are of black origin or not, they might not necessarily know about it, but that was a bad point of contact. I would, it would have been easier if perhaps an appointment had been made through out doctor's.

Do you think you would still have had the same sort of worry, though? Or what, I mean if somebody had said, 'We've made an appointment at your doctor's but we're not telling you what it's for' perhaps that would have been even more...?

Mother' Oh, no, I think if - no. I think if we'd have had, if we'd have been told still, 'Your baby has abnormal haemoglobins' a little bit more of a description. Because all there was on this leaflet was a small paragraph about sickle cell.

Father' If you got somebody on the, if you was one-to-one on the phone and somebody was to turn around and tell you, they could reassure you on the phone and say, 'Look, you know, there's nothing to worry about.' But all we got was the highlighted, and of course panicking, especially with the wife's work colleague. The first thing that races through your head is, you know, 'We've got a small child here who could be in hospital in three months for a, you know, a change of blood. Or she could be in' - you know, we didn't know how serious an ailment - if an ailment - she'd got, and for somebody, you know, at least you could get reassurance down the phone.

Mother' It could have been the receptionist at the doctor's that phoned to make the appointment and to say, 'We've had your baby's heel prick test back. There is some abnormalities with it. We can't be a hundred per cent sure on what they are yet, but they're looking to be sickle cell.' They could have asked an - I don't know if you can, but they could have asked an ethnic question. And sort of, I don't know, if they'd have, if somebody had have tried to put your mind at rest, 'We don't know if. . .' I think if - I would, I don't know the percentages, but I would say it's more likely if they know that the mum and dad at that time are white, it's very, very, very unlikely that the baby is, has got the disease. So perhaps a nurse at the - or perhaps even your own doctor, I don't know. I know everybody is busy but I think if they'd have, we'd have had that rather than just a letter and a leaflet dropped through the door and waiting for somebody to phone us.

Footnote' only trained health care professionals should give results.
 

Professional learning: While they were waiting for their counselling appointment, they asked the...

Mother' And then like I say a letter come through. And we thought it was wrong, to begin with. And because she was a big baby as well we did take it to the hospital, didn't we? We had to take her back to the hospital for a heart murmur. And we did take it back, didn't we? We had that leaflet with us in our red book [laughs]. And we said, 'Look, you know, is this right? You know, we're being told, we've received this.' I think it was a health - was it a health visitor actually?

Father' What, with the...

Mother' I think it was the health visitor. We were just showing her the leaflet and said, 'Look, we've had that through. But can she really have this?' And it was just waiting for the appointment - well, no, actually, waiting for the date to come around for her, the lady to come out and do the bloods. I'm sure at clinic I took the leaflet down and asked the health visitor, and unfortunately she's just, she was just - we did actually, yeah. She just said, 'Like you, I can't answer that'.

So do you think she didn't know that much about the condition? Was that the issue?

Mother' I think she was a bit more shocked, again, because of us being white.

Father' It was as if, I don't think maybe she hadn't come across a case of two parents, two white parents having this sickle cell running in the family. Maybe it was just a shock to her.