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Jayne

Age at interview: 40
Brief Outline: Jayne only found out that she had X-linked Alport Syndrome when her eldest son started developing symptoms of hearing loss. She remains symptoms-free, but her main concern is her sons’ hearing.
Background: Jayne works part time as an office clerk. She is married and has two children, aged 10 and 8. Ethnicity: White British.

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When Jayne was around 9 years old, she was diagnosed with nephritis after the doctors found blood in her urine. Apart from annual hospital check-ups, the diagnosis didn’t have an impact on her day-to-day life. She didn’t developed any symptoms, nor did she have to take medication. Therefore, she didn’t feel the need to ask for her consultant’s advice when she decided to have children. When having her first son, she had high levels of protein and blood in her urine and her pregnancy was induced. However, it wasn’t until her first son’s hearing started to decline that she suspected there might be a link to her nephritis. Jayne pieced some of this information together and rang her doctors to ask about this. This is how she found out that both her and her sons had X-linked Alport Syndrome. Jayne thinks she would have been more cautious with family planning, had she known that she had Alport Syndrome. Yet, she feels that in some ways it was better not to know because she would have had doubts about having children. 

At the moment, Jayne’s major concern is her children’s hearing loss. Although her youngest son doesn’t need hearing aids yet, Jayne feels that hearing loss affected her eldest son’s school performance. The hospital didn’t give her any practical advice on hearing aids or information on support groups, and she found that her son’s school was not particularly “deaf-aware”. For this reason, she joined a local charity supporting deaf children, which provided her son with a “teacher of the deaf”. This person set Jayne’s son up with a radio aid, so that he could hear the teachers better during class. Jayne is also concerned about her younger son’s kidneys, which the doctors are monitoring closely at the moment. 

Jayne and her husband explained what Alport Syndrome was to their children right from the beginning. Jayne feels that their children accepted their condition. Hospital routines and the prospect of kidney transplantation have become perfectly normal in their family.

Jayne feels that the diagnosis has changed her perspective on the future, and she has learnt to “appreciate things that are happening now more, rather than look too far in the future”. She went to an Alport UK information day, where she saw how people who have been living with Alport Syndrome for decades “were just living their life normally”. This made her realise that “maybe it isn’t that bad after all”.
 

Jayne explains how her diagnosis was made through putting “two and two together”

Jayne explains how her diagnosis was made through putting “two and two together”

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Right in the beginning, it was my sister. And the, she had to go to the hospital for like just a routine test.

And they found blood and protein in her urine. So they decided to test the whole family, and they tested my Mum and myself, and we'd both got it. But up until that point nobody had had any symptoms or anything. And so it sort of went on from there. But they didn't actually diagnose us with Alports. But I'm going back oh, well I'm 40 now and it was, I was still at juniors. So it was way back. And I don't think that they were quite as aware, or it must have been a fairly new thing. So they always put it down to us just, they sort of put a blanket diagnosis of nephritis. So we went through all just normal, just routine check-ups every twelve months, everything was normal and going on perfectly fine. Now, I do remember when I was just started working, so I'd be late teens, early twenties, they did call us in to the hospital. And we did tests like on our eyes, our ears. And it was like a day of being like a guinea pig, and all these tests. But because we were young and not, you know, you don't think, do you? We just went ahead, and they sort of said, "Oh, we haven't found anything untoward." But we never really questioned why they were doing it all. But, so everything went along hunky dory. Then I ended up having my eldest child, and didn't think anything about it. The, the consultant at the time did sort of congratulate me on carrying him full term and having no problems. Because they had to induce me because, I'd forgotten about this bit. They did induce me because the blood and protein went really bad. And they say it's very similar symptoms to, what's it called?

Hypertension, or?

No, I were gonna say it then. What's it called, when you're pregnant and you have to -

Oh, pre-eclampsia?

Pre-eclampsia, yeah. So they didn't know if it was my kidneys or pre-eclampsia. So I was induced when I had my eldest child. And so the consultant never mentioned Alports or anything, and I just, you took it as normal. Now when he - So I didn't have him tested, didn't think anything of it. But then when he got to year 2, I started to notice that his hearing was failing. So I took him to the doctors, and they went through all the tests and everything, and eventually they did say, "Yes, he's got, he needs hearing aids." So, carried on. Didn't think anything of it. But when I kept going back to the consultant, they kept saying to me, "The type of hearing he'd got, it's like something that you would pass through families maybe, because it was nerve damage, sort of thing." And he kept saying, "Is there anybody in the family that's got hard of hearing?" And I said, "No, nobody." And you just thought 'oh, that was strange'. And then I sort of then, I don't know why, I was just sat there one day and it flashed back to when we went to the hospital to have all these tests when we were younger. And I then, that's when I contacted the doctors and I said, "I don't know what's made me think, but I've never had him tested for the nephritis, could it be connected?" And it just went from there. And that's how they found out. They did his, they did a dip test in his urine and said, "Yes, he's got blood and protein." And it just went on from there. And they all put, well I put two and two together, and that's what happened. And then I had my youngest son checked, and they found out that he'd got it as well. And then my sister had her two children checked. Now, her daughter's got it but her son hasn't, so. And that's how we found out, you know, what it was and where it had come from and everything.
 

Jayne talks about feeling like she was “taking up” an appointment when she doesn’t have any symptoms.

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Jayne talks about feeling like she was “taking up” an appointment when she doesn’t have any symptoms.

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Well I remember thinking, 'I'm a bit of a fraud and I were taking up like an appointment that somebody else probably could be, you know, using'. Because I felt fine and I've never had any symptoms. And I do remember saying to the consultant once, "Is there any need for me to keep coming, because I just feel like I'm taking up your time?" And he did actually say, "No". Because if anything did happen and I suddenly became ill, because I go to the hospital every year like, my work colleagues and everything know that I go to the hospital, it would if, it would spark somebody's memory and think 'oh, maybe she's ill because of her kidneys'. But he said if I never went, then people would forget, and it would not be brought to their attention. So they did. And I'm sort of glad that they did keep me going now, because it was that that sort of, kidneys was in my, you know, my mind when my little boy went deaf, sort of thing. So it was right to do that, really. Yeah.
 

Jayne says that after the genetic test results for her family, they try to live in the here and now.

Jayne says that after the genetic test results for her family, they try to live in the here and now.

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Well I tended to wrap my little boy up in cotton wool, and [laughing]. And like think 'oh, I'm never gonna shout at him ever again, and he's gonna get away with whatever'. And you did, you were a bit like that, and. And like he'd knock something over, and you'd say "Oh, never mind, it's fine, it's fine" [laughing]. That does wear off eventually, and you start treating him normally. But yeah, for the weeks after - and then we tended to spoil him as well, like . We came home and booked a holiday to Haven, and like "Oh, we don't care, we're going to do this, that and other, and ." You know, you sort of got a bit silly really. But [laughing], like spoiling him. But I think it were just the shock of it all.

But as time went on, you sort of do realise that there is life after the diagnosis, and everything carries on as normal. Yeah. Yeah.

So did it put a different perspective on things?

Oh, definitely. Yeah. Definitely. You know, you sort of talk to people, and they're all about - like if they're talking about their children, they'll talk about oh, "If they go to university." Or, "When I become a Grandma." Or things like that. And you sort of think 'well I'd like that for mine, but you just don't know what the future's gonna hold'. So you do sort of tend to live more here and now, and sort of appreciate things that are happening now more, rather than look too far in the future. Like, you know, I don't even think about him going to university, because you just don't know what's gonna happen. And you think 'if they get there, that's fabulous', but you know, you don't know what hurdles you've got to face getting up to that point. So it definitely does change the way that you think about things. And also we've got friends that have got children that are ill with other things. And you think 'well I'm lucky, because he's not as bad as that', sort of thing. So it definitely has changed the way that you look at life as a whole, really. You know, you do appreciate things more now. And you don't tend to look too far in front, because you just don't know what's gonna happen in the future.
 

Jayne says in the beginning you think everything’s bad but then you get used to it.

Jayne says in the beginning you think everything’s bad but then you get used to it.

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I think it was probably better that I didn't know, for me. Because in an ideal world I wouldn't have wanted to pass it on to my children. I know my sister's having this heartache now with her daughter. Because although her daughter's still really young, she's got it in the back of her mind, at what stage is she going to discuss it with her? Whether she does anything about it, if she decides to have children herself. And I think she's quite pleased that she can use my children as examples of what life's gonna be like, sort of thing. Because when you sort of get the diagnosis at the beginning, you think 'oh, this is it, everything's bad'. But once you, once you get used to it, they just run around like normal. And, you know. I say to them all the time, because we go to the hospital, and they're like running around like manic, and I'm like, "You're supposed to be poorly" [laughing]. But, you know, they're full of energy. Nothing ails them, apart from their ears. At the minute, anyway. So I think it's nice for her to see that, and like my niece will see that. Because they're very similar in age, and she'll see that they've grown up, and how they've dealt with it themselves, so hopefully it will sort of help her in the future, if she does decide to have any herself. Mmm.
 

Jayne says her and her husband explained things in simple terms to their children from the beginning.

Jayne says her and her husband explained things in simple terms to their children from the beginning.

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Yeah. I've, me and my husband sort of sat down and said, "How are we gonna deal with this?" Because they knew that they kept going to the hospital for their blood taking. But I think children just take it as it is, don't they. So I thought back about things that I'd been told when I was younger, and I thought you just - life is so simple when you're young. And I thought rather than let them get to teenagers or whatever, and tell them this bombshell, I thought I'll tell them. So we put it in really simple terms, and we just said, "Look, your kidneys don't work very well. So it makes your ears not work very well, and your eyes. So that's why you've got to wear your hearing aids. You've got to go for your eyes testing. And the doctor checks your kidneys." And they've been absolutely fine with that. And then we've also said like it's a bit of, it's a bit of a way to get them to eat healthy. But we've said, you know, "You might have to have new kidneys when you get older. So, you keep running around playing and doing your sport, and eating your fruit and vegetables, because if you do that, that'll keep your kidneys healthy longer." So that's the way we've done it. And they haven't questioned it at all. So that's what we've just said. And I mean, my youngest one were a bit like, "mmm, whose kidneys am I gonna have?" [laughing] Sort of thing. But we says, "Oh well, you know, you just might get mine, or." I mean, I don't know about, don't know about myself because I've got the Alports. I haven't even gone down that road yet. But we says, "Oh, you might get one of Daddy's kidneys, or - you know - Aunty So-And-So's, you know." But they've just, "Oh yeah, right." That's perfectly normal. And because we've told them right from the beginning, so they've just accepted it. Yeah.
 

Jayne says she wants her children to enjoy life to the full now because she doesn’t know what the future holds for them.

Jayne says she wants her children to enjoy life to the full now because she doesn’t know what the future holds for them.

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Oh. Yeah, definitely. Yeah. Yeah. I think people do think that we spoil them more now, and I think we do. Like especially at like Christmas times come up.

But you can't help yourself, you just - it's always at the back of your mind, thinking - you're sort of creating memories for now, sort of thing, and. And memories for them as well. Because you want to, you don't know if they're gonna be hooked up to dialysis in a few years’ time, and you think 'I want them to do as much as they can and enjoy life, so they've got happy memories, you know, to look back on if they do become ill in the future'. Because you don't know how soon it's gonna happen, or you know, it might be at high school, you don't know. Or it might be not 'til they're well in their thirties and got children or families of their own. It's, it's the unknown as well. If somebody said to you "Oh, they're gonna be ill and, from 16 to 20, but then they're gonna be fine, then." But you just never know what, what the future holds really. That's hard, not knowing. Yeah.
 

Jayne talks about her worries for her sons who have hearing loss.

Jayne talks about her worries for her sons who have hearing loss.

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I do get worried, yeah. But I mean, at the minute the kidney side of it isn't affecting him, it's the ears. The hearing. That's the major problem at the moment. It's like getting behind at school. And I don't know, it just seems like people aren't aware, deaf-aware more than anything. And battling with school to get equipment and things like that. That's, that's the biggest problem at the moment. You sort of put the kidney thing to one side, and that's what I've had to concentrate on more. Yeah.

What sort of things did it say then, on the internet?

Well, it said things like that they know males get the worst symptoms. And that they get hearing loss in early teens. Well because mine had got the hearing loss at infant school, I was thinking 'oh, mine have got a worse strain than everybody else's, because it said early teens and mine have got it really early, the hearing loss'. And then it said by the age of 25 they'd have kidney failure. So I were thinking 'oh, well because mine got the hearing loss early then they're bound to get the kidney failure earlier'. And it was just things like that that frightened me, because it could have said, "Sometimes you get it early." Because when I did say that to my consultant, he says, "Oh, it doesn't necessarily mean that the kidneys are going to get worse, just because the ears have got worse." So it was things like that. Yeah.
 

Jayne got help from the Deaf Children’s Society to get her son a radio aid at school.

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Jayne got help from the Deaf Children’s Society to get her son a radio aid at school.

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Yeah. Well when I first went to the hospital, I just - because we hadn't had anybody with any hearing loss at all in the family, that was a bit of a blow because they just went - because he was being monitored every so many weeks, and we went for the last appointment thinking they were just gonna send us away and say, "Oh yeah, we'll review him again in so many weeks." And they said, "Oh no, he needs hearing aids. Just go through there and get the moulds." And it were like 'oh, what's going on?' So we went and got the moulds fitted, and we didn't get any information about how to deal with them, or any support groups, or anything. So we brought him away with the hearing aids when he got them, and they've been - although they've helped him, they've also hindered him. Because the hearing aids pick absolutely every little sound up that you can ever imagine. And we didn't realise this. And neither did school. And it wasn't school's fault, because they hadn't had any experience with hearing aids either, so he ended up getting quite a long way behind at school, because it was - his hearing aids were picking up tapping, and everything. And it just - that period was a nightmare. And I ended up joining our local Deaf Children's Society group. And I've actually, I'm the treasurer now, for that. Yeah. Because that way I found out - because they didn't give him a teacher of the deaf, or anything. And they didn't tell us about radio aids, we didn't know anything. But through going to that support group I've got him a teacher of the deaf, who went into school. And she set up, she like advised the teachers how to deal with things, and. And they like took him out for extra lessons, and. And then they got him a radio aid, and.

What's that, exactly?

The radio aid? It's got some little receivers that plug into the actual hearing aids themselves. And the teacher wears the microphone round her neck. And so it sort of blocks out all the other noise. And it just feed her voice into his hearing aids. So he can hear what she's saying all the time, then. So that was an absolute brilliant thing. And that's been fine. But now we've found that we've - because he's in year 6 now, so we've now got to sort of start looking at high schools. And we went up to high school, and I don't know how that's gonna go, because they're a bit - they're a bit like they were at the juniors. They haven't got the experience, and they're not sure if that's the school for him. So I feel now, like you feel like you're going over hurdles all the time. Because it took us about eighteen months to get everything sorted at juniors, and you thought 'oh, we can relax, everything's sorted'. And now it's coming up to him going up to high school, I mean you feel like you're back to square one. And the fight starts again, and we're gonna have to go through it all again at high school. Yeah. Which , that's a worry. Yeah.
 

Jayne’s sons have ‘flecks’ but no problems with their vision and the consultant recommends they have annual eye tests.

Jayne’s sons have ‘flecks’ but no problems with their vision and the consultant recommends they have annual eye tests.

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But they also go for the eyes testing as well. Because they have flecks on the, not sure what they're called [laughing]. Little flecks.

The retina, is it?

Yeah. And they both do have those flecks as well, although their vision's fine. Yeah.

So that was picked up.

Yeah.

How old were they when that was picked up?

Well that was the consultant that said about that. Normally they'd just have their routine eyesight test at school, which brought up no problems. The school nurse does that. And I didn't feel like they needed it checking any more. But it was the consultant that said, "Are you aware of these eye problems?" And he said, "I suggest you go for their eyes testing every twelve months as well." So I just booked in to the local optician, and they send for them both every twelve months.

And they pick that up, do they?

Yeah they, they took a picture of the back of the eye. It was just like they're just really simple - put their head on this thing and just a flash in their eye. And when they've picked - they did show me the pictures, but over the last couple of visits, they haven't changed at all. So I'm quite happy with their eyes at the moment.
 

Jayne was unaware she had Alport Syndrome throughout her pregnancy.

Jayne was unaware she had Alport Syndrome throughout her pregnancy.

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But with it only, with it being every twelve months that I go for my, you know, to see the consultant, I was quite far into the pregnancy when I saw him. And he was just, I think he was a bit shocked because they , they weigh you before you see him, and obviously he got my results and think, he must have thought that I'd [laughing] gone and put loads of weight on. So when I walked through the door, he says, "Oh, that explains it, then." But he never mentioned it being Alports, and he did say, "Oh, well done for getting this far into your pregnancy." Because I was like right at the very, very end. But I didn't really go into it, why - I didn't think to ask him, because it's, it's like never been an issue, and I've always thought 'oh, I'm perfectly okay'. Because it just never affected me. I didn't sort of think to think 'why, why have I done summat so good carrying my baby so long?' sort of thing. But perhaps if I'd have known about the Alports, I might, I might have been a bit more cautious, you know, thinking it was a bit of a bigger deal than it actually was. You know? But no, I didn't. Never thought about it really.

Because they had to induce me because, I'd forgotten about this bit. They did induce me because the blood and protein went really bad. And they say it's very similar symptoms to, what's it called?

Hypertension, or?

No. I were gonna say it then. What's it called, when you're pregnant and you have to -

Oh, pre-eclampsia?

Pre-eclampsia, yeah. So they didn't know if it was my kidneys or pre-eclampsia. So I was induced when I had my eldest child. And so the consultant never mentioned Alports or anything, and I just, you took it as normal. Now when he - So I didn't have him tested, didn't think anything of it. But then when he got to year 2, I started to notice that his hearing was failing.
 

Jayne said the general information she found online frightened her but that the consultant provided her with advice specifically about her son’s condition which was more reassuring.

Jayne said the general information she found online frightened her but that the consultant provided her with advice specifically about her son’s condition which was more reassuring.

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Yes, I did. Yeah. I went to look it up, yeah. And I don't think that was a good thing to do, really [laughing]. Not on the - you know - the places where I looked. It was a bit, I don't know. It wasn't very positive. And it, I should have just listened to the consultant, and he said, "Look, just take it a day at a time and, you know, see what they find out." He says, "There's no point worrying 'til we get a diagnosis." And he says, "And when we get that, then I'll talk you through it." But when you read things on like Google and things, it's not always positive, is it. And then I have found that the experience with it, and what they said - although they did, they have said what could happen, living with it, it's not as bad as you think. You know? Because he hasn't, they haven't got kidney failure yet, and they're bouncing about. And people that see them think 'oh, there's nothing wrong with them'. Because as it stands, they're absolutely fine. And, you know, playing football, riding their bikes, you know? They're perfectly okay, yeah.

So the information on the internet was quite negative, then?

Yes. Because it, it told you - it told you everything that could happen, but it didn't say all the good. That it, you know, chances are it may not. And look positively. And things like that. It, you know, [laugh] it didn't come across like that. And you're in like a bad frame of mind when you're looking at it. And I think your mind tells you, 'oh, it's gonna be all bad', you know? Yeah, so.

What sort of things did it say then, on the internet?

Well, it said things like that they know males get the worst symptoms. And that they get hearing loss in early teens. Well because mine had got the hearing loss at infant school, I was thinking 'oh, mine have got a worse strain than everybody else's, because it said early teens and mine have got it really early, the hearing loss'. And then it said by the age of 25 they'd have kidney failure. So I were thinking 'oh, well because mine got the hearing loss early then they're bound to get the kidney failure earlier'. And it was just things like that that frightened me, because it could have said, "Sometimes you get it early." Because when I did say that to my consultant, he says, "Oh, it doesn't necessarily mean that the kidneys are going to get worse, just because the ears have got worse." So it was things like that. Yeah.
 

Jayne says there is support out there for hearing loss but that sometimes you have to fight for it.

Jayne says there is support out there for hearing loss but that sometimes you have to fight for it.

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Well, in my experience, it hasn't been all doom and gloom. And there is a support out there. You know? And just keep fighting for everything, and make sure that you - you know, especially with the hearing side, it is a battle but you will get there eventually. You've just got to make a nuisance of yourself and fight for it [laugh]. Yeah.
 

Jayne would have liked doctors to put “two and two” together and come up with her diagnosis. Instead she suggested that she might have Alport Syndrome.

Jayne would have liked doctors to put “two and two” together and come up with her diagnosis. Instead she suggested that she might have Alport Syndrome.

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And I mean I don't know if it would have helped, and I don't know if they could have done it, but we were such a long time between the Alports diagnosis and the hearing, it was - they didn't put the two together. Like they, the hearing people did say, "Oh, this type of hearing he's got, have you anybody else in the family?" If they'd have looked at my medical records, they would have seen that I had nephritis. I managed to put two and two together, you know, maybe if they'd have done that, it wouldn't have been me, up to me to battle it out so much. You know? But I don't know if they've the resources to do that, you know? Yeah.
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