Interview 20

Age at interview: 36

Brief Outline: Mother asked for screening in pregnancy because of family history and found she was a sickle cell carrier. Newborn screening showed her baby was also a carrier. Her white partner has not been screened. some of the video and audio clips are in French.

Background: Researcher, with one child aged 4, now pregnant again. Husband also a researcher. Ethnic background/nationality' half African, half European.

More about me...

This mother asked for a screening test in her first pregnancy five years ago, because there was a family history of sickle cell on her father's side. She was not surprised that the result showed she was also a carrier. The results were sent to her in writing and she was not offered any specialist counselling. She asked her GP about it, and was reassured that it would not affect her health, although the GP did not seem to know a great deal about the condition. 

She is married to a white northern European partner, and assumed he would not need to be screened. Now she knows that some white people can also be carriers, she feels perhaps healthcare staff should have invited her partner for screening as well. In her current pregnancy, she mentioned to the midwife that she is a carrier and this was recorded in her notes, but again partner screening was not discussed with her.

Her first baby had newborn screening which showed that the baby was also a sickle cell carrier. The mother was more surprised about this than her own result. She will have the second baby tested when it is born, and will ensure both children are aware of their screening results before they start planning to have children. 

She believes it is important to know as much as possible about your health and your children's health, and recommends screening to other parents as a simple but important test. 

She asked to have carrier screening in pregnancy because of a family history of sickle cell.

You know that I had the sickle trait only, so I only have it from one side of, from one of my parents. And in fact I hadn't been offered the screening during my first pregnancy. I was told I would have some blood tests and knowing that my family in Senegal has, that there is sickle cell, I was curious. So I asked if I, if they could do the screening at the same time. And then I asked for my daughter when she was born, and they found that she had the sickle cell trait as well. So I just asked for it and got the results, together with the results of the first blood tests that they did for pregnancy.

Hmm. So were you kind of expecting to find out you were a carrier then?

Yes, I did, yeah. I didn't know about my daughter, but I was expecting, because I have a half brother who has, who is a carrier. We have the same father, so I wasn't surprised. 

Mmm. You were never tested as a child?

No.

She did not know white people could carry sickle cell so her partner was not tested.

Did your husband get tested?

No. [laughs] We didn't assume he would a carrier because he's, he's European. He's Danish. And as far as I can gather it's very rare among Scandinavians. So no, we didn't even think about it.

That's interesting. And did anybody kind of follow-up when you got the result and, you know, call you and say, 'Is your partner black, or do you have any reason to suppose he might need testing or'?'

No, but I suppose they had the information already, because they'd asked me during pregnancy what my partner was. So I suppose they knew that he was European, but whether or not that's the reason why nobody contacted us, I don't know.

Hmm. 

No, after I got the card, there was no follow-up.

Footnote' If a woman is a carrier, the baby's father should be offered screening irrespective of family origin.

As there can be white sickle cell carriers, everyone ought to be tested. [Puisqu’il existe des porteurs de drépanocytose européens, on devrait tester tout le monde].

English translation, video and audio clips in French.

It's true. We should not stop at the fact that most of the carriers of sickle cell are Africans or of African origin. If indeed there are carriers of the disease who are Europeans then it may be worth testing everybody, to see if that does make a difference. As the test is easy to do it should be done. And I've learnt something today because I didn't know there were European or white sickle cell carriers.

Footnote: If a woman is a carrier, the baby's father should be offered screening irrespective of family origin.

French original:

C'est vrai. Il ne faut pas s'arr'ter au fait que la plupart des porteurs de dr'panocytose sont africains ou d'origine africaine. Si effectivement il y a des porteurs de la maladie qui sont europ'ens, peut-'tre que '' vaudrait le coup de tester tout le monde, de voir si effectivement '' fait une diff'rence. Puisque c'est un test facile ' faire autant le faire. L' j'ai appris quelque chose aujourd'hui, parce que je ne savais pas qu'il y avait des dr'panocytaires europ'ens, ou blancs.
 

She was not very surprised or worried by her own carrier screening results, although it was more...

And was there anything in this letter that you got that even said, 'Here's a number you could call,' if you wanted to? Or did it advise you to go to your GP?

I don't think so. I think well, I was communicating regularly with my GP and then when I got the results I automatically spoke to her about it - and I would have done anyway, therefore I don't remember if there was anything. But then what she said reassured me and therefore I didn't pursue it any more. 

How did you feel when you actually got the result? Was it a shock or'?

No, I'd expected it so much, I suppose, that it was just good to have a confirmation of what I suspected. I was quite surprised to see that my daughter had it. Somehow I didn't expect it. I didn't expect it to be handed down to her. But given that I wasn't too concerned for myself, I wasn't too concerned for her either.

Footnote' If one parent is a carrier, each child also has a 1 in 2 risk of being a carrier.

The sickle cell carrier test is easy to do, so she'd recommend it to everyone. [Le test pour les porteurs de la drépanocytose est facile à faire, alors elle le recommenderait à tout le monde].

English translation'

In effect, the test for sickle cell is easy to do. And if you're doing tests, blood tests and various tests during pregnancy, and it's possible to do it easily, I would recommend to anyone to do it. If it can have consequences for the children it's better to know. Absolutely. If I had to do it again I would.

French original'

Effectivement, c'est, le test pour la dr'panocytose c'est facile ' faire. Et si on fait des tests, des prises de sang et des tests vari's pendant la grossesse, c'est qu'on a la possibilit' de le faire facilement, moi je recommenderais ' tout le monde de le faire. Si '' peut avoir des cons'quences pour les enfants il vaut mieux le savoir. Absolument. Si je devais recommencer je le ferais.
 

She asked for her daughter to have newborn screening. She was surprised that she was also a...

Afterwards. She was tested when she was born. Because having discovered that I had the trait, then when she was born I asked again if they could test her as well. 

So, just tell me a bit how that happened, you know, what the process was when, when you were asking for her to be tested. Did, was it, was it offered to you? Or did you ask?

No, I asked. It wasn't offered. But in which circumstances - perhaps they were checking anyway what her blood group was, and then I asked them to do it at the same time. I think it was the case for me that I was, I knew what my blood group was, but then I was told that they would check it anyway to make sure. And then I said, 'Well, why don't you do the sickle cell at the same time?' And it might well have been the same for her. But no-one offered it.

Mmm. So it's all been at your instigation, really?

Oh yeah, definitely. 

Yeah. So, just tell me again about getting the results for your daughter. That, that was another card?

Yes.

And were you surprised by that? How did you feel?

I was bit more surprised than I was for myself. For some reason I thought - I don't know why - I thought that the further down you go, down the generations, then the less likely it is to find the trait. So I thought that perhaps she wouldn't have it. I don't know.

Does it worry you, for her future?

Not really. It will if I find out that there are consequences which I'm not aware of at the moment. But it will worry me, of course, if it turns out that she marries someone who's also a carrier. But at this point it's a bit early to worry about that, so no, not really.

Footnote' if one parent is a carrier, every child will have a 1 in 2 risk of also being a carrier. This risk does not change from generation to generation. The word 'trait' is sometimes used to describe carrier status. 

Professional learning: She has had breathing problems when diving or at high altitudes, and...

I didn't know much before I spoke to my GP about it. But I was wondering whether some of the breathing problems I've had in high altitudes or trying to do diving, for example, might have been related to that. I was curious to know. And I'm still not quite sure actually whether or not it's related, because I've had asthma as well, and I can't tell whether it would be one or the other. And then after having had the results, I had a talk with my GP and she said that in fact it's unlikely to be related, and that the only situation in which it would be important to know was if I had an accident, for example, and needed a blood transfusion. But on the other hand, she didn't seem to have a complete knowledge of the condition, so I'm still not quite sure what it means. 

So you didn't get referred to a specialist counsellor?

No. I just got a card, a small pink card and I got one for my daughter as well, saying that we had sickle cell trait and that's it.

Footnote' Generally a person's health is not affected by being a carrier. There is a risk to sickle cell carriers of 'sickling' under situations of very severe oxygen deprivation. The situation that people are most likely to encounter is oxygen deprivation during anaesthesia. If deep sea diving or mountain climbing the individual should make sure that they are well oxygenated but they do not have to avoid these activities. Carriers of a sickle cell disorders can have normal blood transfusions.
 

Professional learning: Her white partner has never been offered screening.

Did your husband get tested?

No [laughs]. We didn't assume he would a carrier because he's, he's European. He's Danish. And as far as I can gather it's very rare among Scandinavians. So no, we didn't even think about it

That's interesting. And did anybody kind of follow up when you got the result and, you know, call you and say, 'Is your partner black, or do you have any reason to suppose he might need testing or'?'

No, but I suppose they had the information already, because they'd asked me during pregnancy what my partner was. So I suppose they knew that he was European, but whether or not that's the reason why nobody contacted us, I don't know.

Hmm.

No, after I got the card, there was no follow-up.

Footnote' If a woman is a carrier, the baby's father should be offered screening irrespective of family origin.