Screening for sickle cell and beta thalassaemia

Video and audio clips read by an actor.

I mean some people have other symptoms, but mine's mainly pain, pain either in my arms or my leg. They usually last for about a week. And that pain is so severe - you just can't describe that type of pain. I mean, sometimes I will say it's the most painful, more painful than giving birth, you know. So I'll go to the hospital, they will give me really powerful painkillers like diamorphine - that shows how really painful it is. When I was younger I wasn't getting all this pain relief. So when they give me diamorphine or pethidine - initially they were giving pethidine - it helped the pain. It will help you to relieve, just taking the edge off the pain, but the pain is still there. It will be there for about a week, you know, I'll be in hospital for about a week, and then I'll be discharged. So eventually I realised that with the cold weather it actually triggers off the pain more than anything, so I realised I need to keep myself warm. I started reading more about it. I need to keep myself warm, I need to drink a lot of fluid and everything else, you know.

She, we went on holiday during the last, the last long holiday. When we went - we went to France, we went to Disneyland - and at Waterloo train station, when we get there she couldn't stand up. I was thinking, 'What's this?' Then she's - I didn't know, I thought it was a cramp. Then, about 30 minutes then she can walk normally then - fine. Then the second one was she finished using the toilet and to get down she just fell, she couldn't walk. Then she couldn't hold any object, left, and her right leg. Yeah. So I was thinking 'What is this?' Then I took her to the GP and the GP said, 'Maybe it's sickle cell' you know. 

The GP, the GP just, she goes, 'There's nothing, it may be sickle cell.' Then the third one it was around six o'clock in the morning. She was crying, and I went to her bed, and when I got there she was dripping saliva coming out, out of her mouth. I said, 'What's this?' Then she was doing [demonstration of clicking sound] that sound. For a good three hours she was doing this. Then I took her to the GP and the GP said [er] maybe it, it was epileptic. I'm like, 'No', because I don't have epileptic in the family and the Dad doesn't have epileptic in the family, so where's she going to get it? Then she said, he said he would write to the hospital, then they would write to me for an appointment. 

Then the next day the hospital called me on my mobile that I have to bring her on that day. Then when I got there, I explained everything to the doctor, then the doctor said she didn't think it's epileptic - it's stroke. 'Stroke? Where's she going to get that from?' And she said, - so I didn't know that SS [sickle cell anaemia] children can have stroke. 'I wasn't told.' So, 'Oh.' Then she said she would phone the SS, the sickle cell consultant to come and talk to me. That they have to do the CV - MRI scan for her. She was there in the hospital for two weeks, because they didn't let us go home. Then they did - MRI scan and they said she's slightly, the right brain is slightly damaged, that she'll have to be having transfusion every four weeks to reduce, to minimise the stroke.

Because presumably that's sickling happening'

Yeah.

' in the blood vessels in the brain.

Yeah. That's what they say, yeah. Exactly.

Footnote - Stroke occurs in about 10% of children with sickle cell anaemia.
 

Even up till now it's like whenever she goes to - because she's started going to nursery - it takes me time for me to let her go out to like play with other people, like go to weekends. Because I had to stay with her at home for a year, eight months. I couldn't let her go to nursery because I was thinking, 'Oh, maybe she goes to somebody's house, she might have a crisis. I'm not there.' So I didn't let her go. So she was like stuck with me. As soon as I leave the house, the room, she starts crying. She didn't want to go to anyone. But when she started going to the nursery now at least she's fine. She's never - thank God - she's never had a crisis before. I'm so happy for that now. And she's doing fine, she's doing so fine.
 

English translation:

Personally I think that here they're already doing very well. And, because we know that sickle cell varies from child to child and there are misleading symptoms. Because there are some children who are very slender, very thin, like mine, and then there are others who are quite hefty, quite beefy, and you think they're in perfect health. And of course that's not the case.

Suddenly a crisis?

Crisis is part of it, because crisis, you can recognise it. It's in their limbs. But I know with my child, for example, that he's developed cardiac problems. And every time he has a crisis, sometimes there are problems of infections in his lungs. And it's not easy. And when you're talking about infections in the lungs, then sometimes there'll be respiratory problems and he'll find himself in Intensive Care. Last time he was there, last month, there was another infant, another child next to him. And they ended up playing together. But when they came out they both had slightly different problems. He even had a, a small problem with his brain. And when you see them, people say, 'Oh, they come here. They'll leave a week later. It's not that serious'. But it is serious. It's a problem which is very serious, both for the parents and for everybody around them. But in general I think that here in England the staff have started to be really well trained for that and they put everyone at their ease. I think that's the most important thing. Put the parents at their ease and the child at his ease and then the rest will follow.

French original:

Moi, je pense, déjà ici ils le font assez très bien, et que comme on sait la drépanocytose ça varie d’un enfant à l’autre, et ils ont des signes très trompeurs, les enfants, parce qu’il y en a qui sont fins, maigrichons comme le mien, et d’autres qui sont très costauds, balèzes, on pense qu’ils sont en pleine forme, et puis ce n’est pas le cas.

D’un coup la crise.

La crise est dedans, parce que il y a la crise comme on connait par, c’est les membres, mais je sais que le mien, par exemple, il a developpé des problèmes cardiaques, et à chaque fois qu’il a une crise parfois c’est des problèmes d’infections, des poumons. Et c’est pas facile. Qui dit infection des poumons donc parfois qu’il a des problèmes respiratoires et se retrouve en soins intensifs.  La dernière fois qu’il y était le mois dernier, il y avait un enfant qui était à côté de lui, à la fin ils jouaient ensemble mais quand ils sont tous rentrés chacun avait des problèmes différents, lui on avait même détecté un petit problème du cerveau.  Et quand on les voit, on se dit, ‘Oh, ils viennent là, ils vont sortir une semaine après, c’est pas grave.’ Mais c’est très très grave.  C’est un problème qui est très grave, et pour les parents et pour l’entourage, donc. Mais en gros je pense qu’ici en Angleterre le personnel a commencé à être, par commence est très formé pour ça, et met tout le monde à l’aise, quoi. Je crois que le plus important c’est ça, mettre les parents à l’aise et l’enfant à l’aise, et après le reste se fait tout seul.

 

And I know I've got my, the counsellor is always there and I - because she sees the consultant in the hospital from time to time. So I just, I have a book that I put, I write my questions in for the time, for the next time we visit the clinic, and she keeps a book as well. If she has any problem I can't answer to, I always refer back to her book. And she can write them down and ask the doctor when next she goes to the hospital. Because she needs to know about these things. It's her condition, not mine. 

I can only guide her and support her to some extent. She is going to be dealing with it throughout her life, and her brothers are very aware of it as well. We go to seminars together. We go to the hospital together when we have to. They look after her. When she's playing out in the cold not wearing her gloves, or not wearing her scarf, they drag her in and make sure she wears it [laughs]. When she's drinking too much cold water or ice cream when I'm not there, they know they have to give her something warm to drink. When it's cold in the house, they know the heating has to be on. So, it's quite important. It's important. 

There was, when they told us at home - because they came home to talk to us - when they came to my place to talk to us, it was like then a month later or I think, yeah, the following month - because they have it every first Wednesday, the mother and baby group - I started going in there. They started like showing us videos about it, like other people, like how it affects other families. And I've like got, I've got like lots of videos, because they did, like whenever we go in they will show us, after they will finish talking to us they will show us videos about like what's going on and what it's like to have sickle cell, it's like to have kids with sickle cell. They will have people that are sickle cell suff-, carriers to come in and talk to us at the centre, which I think is good. Like to tell us the experience they've been through as well.

And, and is it helpful having other mothers that you can talk to?

Yeah, yeah.

Do you contact each other outside the group?

Hmm, no [laughs], no. It's just that we don't like call each other or whatever outside the group. But I've been to like, when I go out if I see them we'll sit down and then we'll like chat and talk about, 'Oh, how is the child?' or whatever. It's like we'll sit down and talk about it. But I've never like called anyone outside the group, no.

But within the group do you talk much amongst yourselves? Or is it mainly listening to other people?

We, you, we explain about things. Because for example like when she started taking the medicine, the penicillin and folic acid, because I didn't have - there was one point I was like so worried because she couldn't drink the medicine any more. I was like saying, 'Oh, if she doesn't drink the medicine she might have a crisis.' And then I was like worrying because I think she got fed up with the taste. And surprisingly now she's the one reminding me in the morning to give her the medicine. When I wake up in the morning she comes in and say, 'Mummy, medicine please.' And she goes in the fridge and get the medicine and everything out, yeah. She's the one, even in the morning if I'm rushing to go out to get to work she will run up and tell, 'Mummy, medicine please.' And so I have to give it to her in the morning before going [laughs].

Footnote' taking penicillin regularly helps prevent people with sickle cell disorders from getting infections.
 

English translation:

Well, you have to try to banish fear. In fact people are afraid because it's in our mentality, in that people aren't made aware that sickle cell is a long-term illness and that it's not, it can't be cured but at the same time it can be treated, and that you can live a long time with it these days. And you can say that it's an illness like any other, even if it manifests itself in several different ways. But not to take it as an isolated illness, but to take it as an illness like any other illness and which can be managed in our society. Because in fact in singling out this illness or isolating the families, you isolate everyone. And I think that it all comes down to that. So isolation, fear and then pity. And none of that helps. It's an illness. You just have to face it. There are things you have to do every day. There are medications to take every day. So you have to be careful. 

At the level of the family and all the people around the family, whether that's in-laws, friends, everybody has to know what kind of treatment the baby has to take, the child has to take. So I take great care when they're going to my friends or they're going to spend a day there. '[Son] has a big bottle. So please make sure he, he finishes the bottle. And if he finishes it, please fill it up again for him'. So everybody, it, it's so that everybody feels responsible. And that doesn't prevent him, just because he has this bottle, that he can't, that doesn't prevent him from playing with others. It doesn't mean he can't go and sleep over at other people's. Because often I know that in Paris, even we at the start with this lack of information, we used to say to ourselves, 'Oh, he'll never be able to sleep over at other people's houses. We'll never be able to leave him with our family. We'll never be able to leave him with friends, even to look after him for a bit. We'll never be able to have a babysitter'. So in fact then you find yourself enclosed in your circle, in one room. And then that's it.

Footnote' Sickle cell anaemia can be cured by a bone marrow transplant, but this is restricted to a very few people who have an unaffected sibling and whose bone marrow provides a perfect match for donation. In England this procedure is restricted to individuals under the age of 16.

French original:

En fait, essayer de faire partir la crainte.  En fait les gens, ils ont peur parce que c’est dans notre mentalité.  Tant que on ne fait pas comprendre aux gens que la drépanocytose c’est une maladie à long terme et que elle n’est pas, elle ne se guérit pas, mais en même temps on la traite, et qu’on peut vivre longtemps avec maintenant. Et on peut dire que c’est une maladie comme une autre, même si elle se manifeste de plusieurs façons, mais de ne pas la prendre comme une maladie isolée, mais de la prendre comme une maladie comme toute autre maladie et que ça se gère dans notre société. Parce que en fait si, en fait en isolant même la maladie, bien, on isole les familles, on isole tout le monde. Et je crois que tout ça vient de là, donc de l’isolement, la crainte et puis la pitié, et tout ça ça ne règle rien.  C’est une maladie, on fait face.  Il y a des choses à faire tous les jours, il a des médicaments à prendre tous les jours, donc on fait très attention.  Au niveau de la famille, que tout le monde autour de la famille, que ce soit la belle-famille, les amis, tout le monde doit savoir quel genre de traitement l’enfant doit prendre. Comme ça je fais même attention quand ils vont chez mes amis, ils vont passer des journées là-bas. ‘[son’s name] a une grande bouteille, donc faites attention qu’il finisse la bouteille et s’il la finit, vous la remplissez encore.’ Donc tout le monde, pour que tout le monde se sente responsable, et ça n’empêche pas parce qu’il a cette bouteille qu’il ne peut pas jouer avec les autres, qu’il ne peut pas aller dormir chez les gens, parce que souvent moi je sais qu’à Paris, même déjà même nous-même au départ avec ce manque d’information, on s’est dit, ‘Mais jamais il ne pourra aller dormir chez des gens, jamais on pourra le laisser dans la famille, jamais on ne pourra le laisser avec des amis, même pour le faire garder, même pour prendre une nounou.’ En fait après on se retrouve fermé dans un cercle, dans une pièce et puis voilà, quoi.

English translation:

And then there's your professional life, because you can't predict when crises are going to happen. At the start you're, well, certainly I was very involved in my work, I had responsibilities. And little by little I started to take on fewer responsibilities, especially when he started at nursery school. As soon as he had some little thing wrong with him, they called me, I had to be there. Because the school doesn't take any responsibility, because it's not a parent. And it's always mum who has to leave work, who's nearest . And so it's always mum who had to keep missing work, and gradually, at work they didn't say, 'You're no good to us any more'. But at the same time I understand how others feel. They need someone who can be available a hundred per cent. And because they couldn't count on you, then they started giving you fewer responsibilities. You do what you can, but at the same time that's it. And so those were the three things which transformed my life. And in the end I was practically obliged to stop working. I went from full-time to part-time, and then after part-time there was nothing at all. And that's it.

French original:

Et après vient la vie professionnelle, parce que les crises ça ne prévient pas. Au départ on est très bien - surtout moi - j’étais très bien impliquée dans mon travail, j’avais des responsabilités, au fur et à mesure j’ai commencé à avoir mes responsabilités se  dégrader, surtout quand il a commencé la maternelle. Dès qu’il avait un petit mal on m’appelle, il faut être là, parce que l’école ne prend aucune responsabilité tant qu’il n’y a pas un parent, et comme c’est la maman qui est toujours partante, qui est plus proche, et ben c’est maman qui quittait tout le temps le boulot, au fur et à mesure après, au boulot on ne te dit pas, ‘Tu ne sers plus à rien’, mais en même temps je comprends les autres. Ils ont besoin de quelqu’un qui doit être disponible à 100% et comme on ne peut pas compter sur toi, bien on ne te donne plus trop de responsabilités.   Tu fais ce que tu peux et puis en même temps sans plus. Et là ça a été ces trois choses qui ont transformées ma vie. Et à la fin ben j’étais presque obligée d’arrêter le travail.  Je suis passée de temps plein à temps partiel, et puis après le temps partiel il n’y a plus rien du tout, voilà.