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Alport Syndrome

People’s attitude to Alport Syndrome and their outlook for the future

People spoke frequently about how they coped and managed living with Alport Syndrome. Some said that having Alport Syndrome was “not a big deal” or a “massive issue” for them, but others had mixed feelings about the condition (see Emotional side of living with Alport Syndrome and where people found support). These feelings sometimes changed over time. At certain crunch points, such as dealing with or coming to terms with a diagnosis, or being out of work or losing employment, people experienced stress and heightened emotions. At these times people required extra support. Jayne and Amanda said it was the unknown that they worried about, particularly for their children. People also spoke about trying to remain positive and maintaining an optimistic outlook through challenging times. Lucy said she took the approach of being “positive and proactive” for the future of her children whilst Jayne said that although she had to fight to get her son’s hearing equipment at school, it wasn’t “all doom and gloom”. Kevin felt having Alport Syndrome “wasn’t as bad as you think”. Dee felt that her condition was manageable. Frances said that whilst she worried about the future for herself and her son, she also felt very positive.
 

Patrick says his ‘carefree’ attitude to Alport Syndrome is the result of all the support he’s had.

Patrick says his ‘carefree’ attitude to Alport Syndrome is the result of all the support he’s had.

Age at interview: 17
Sex: Male
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You know I think my positive attitude and my carefree, I guess, attitude to my condition has come from not only having it become very, very routine; so I've had this for as long as I can remember. I've had a massive amount of support from my mum, from my family cos of course it's a genetic condition so everyone's in it together. From the Alport UK support network, and a lot of, the last of couple of years it's been sort of helping people that have just realised they had the condition and you know, talking, talking to people and sharing our experiences.

In summary I just think my approach my Alports is that it doesn’t have to be this thing which you're battling and you're trying to understand. With the right support network and the right information and the right outlook it's very easy to deal with. Teachers and colleagues and everything, they are really understanding if you give them the opportunity. Yeah it doesn’t have, Alports doesn’t have to ever be anything else other than an inconvenience I think.
 

Steve says that having a positive attitude is very important with Alport Syndrome.

Steve says that having a positive attitude is very important with Alport Syndrome.

Age at interview: 37
Sex: Male
Age at diagnosis: 3
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Yeah I think as a person with Alport Syndrome, and transplant recipient, you have the choice to either let the worries wear you down and stress, or move on, you know accept what's happened and carry on and I think the positive attitude is the same for many, many illnesses. I think, you know if you're negative about it then, then it can actually affect, you know to, you know the attitude isn't, I think it has a physical aspect as well. So yeah I'm very positive about the whole thing; it's been rubbish and I certainly wouldn’t have wanted any of it to happen but I had no choice, so I can choose to dwell on it or I can get on with my life and that’s what I'm doing.
 

Frances describes her feelings as a teenager and how her dad’s positive attitude helped her.

Frances describes her feelings as a teenager and how her dad’s positive attitude helped her.

Age at interview: 35
Sex: Female
Age at diagnosis: 16
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Yeah. Oh, definitely. Just because I just felt so low, and you know, as if 'why me?' And 'what have I done?' And all this kind of self-loathing, and. It's, I don't know, it's a - it's a really, really strange thing to try and - to say. Because you're a young person, then suddenly you're told you've got this illness, and you're like [groan], 'it's not fair'. But life's not fair. And you realise that as you get older. And well everybody has different things, and you just get the cards you're dealt with, but that's that. But when you're wee, you're not that rational and you don't realise that, and you just - so I just had a meltdown, and wasn't functioning properly, and - you know -the doctors put me on antidepressants, and then I seemed to pick up and I was alright. And then when my wee boy got diagnosed, I was devastated. Absolutely devastated. They were gonna send us to the genetic counselling, and all these kind of things, and I didn't really want to speak to anybody about it because it was personal and it was private, and - and like I said before, my hubby's really private and didn't want to talk to anybody, and didn't want - you know - it's our business, it's family business, and keep it that way. And that's fine. That's - everybody has a different way of dealing with things, but I just couldn't function. Could not function. I was like just - felt worthless. And how could I do this to the most precious thing in the world? And it was all my fault. And then that's when it started to make me think about well my goodness that's how my Dad felt. And that's the horrible, horrible thing about hereditary illnesses, that it's just a never-ending circle.

Because I think for somebody who's had Alports for years, obviously, and had a kidney transplant and looked after himself, he's done pretty well, so. He always said that it's just a lot to do with positive mental attitude, and - you know - he's got a really good outlook, and he's always been really positive, and never let anything get him down, and always been very, very strong. Very strong-willed, and very determined, and always went "I'll do it myself. I'll do it myself." He's always been like that. And I think that's what's got him to this age. As he's not lay down to it at all.

Just think it's not the end of the world. I think that is the big thing. When the diagnosis first obviously my Dad, then me, then my wee boy. You just think that your life's over, and - you know - this is the worst thing. "Why me?" And it's life. You know, we get dealt what we get dealt, and you just need to deal with it. But things have changed dramatically. And the outlook is not bleak, it's looking good. Things are changing, and they're discovering new medications, and growing kidneys in labs and doing all sorts of fancy things now, so. Just stay positive, and keep going.
Several people spoke about “normalising” Alport Syndrome in their families. Lucy said that it had been “taken for granted” in her family when she grew up. She wanted to adopt the same pattern for her children, “to make sure it is just the norm... and there is no kind of before and after line where they're told something and there's an announcement and it's worrying”. Alison said she tries to live as normal a life as possible after her kidney transplant. Kevin said he grew up with Alport Syndrome being “entirely normal” for him and his brother. Paul and Christine spoke about making the most of everything. Paul said that he felt he had to have “something to fight for”. People said these things whilst acknowledging the difficult times and challenges (see Emotional side of living with Alport Syndrome and where people found support). Cynthia was in a lot of pain and said that looking back although there was also “no let-up” with Alport Syndrome, she felt she had had a “good life”.
 

Michael X says that he admired his late wife Sal’s attitude and ability to cope.

Michael X says that he admired his late wife Sal’s attitude and ability to cope.

Age at interview: 82
Sex: Male
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I think only to say how immensely grateful we as an Alport family are to the services that have provided the stunning treatment for a) first in my poor darling Sal, who got many years of happy wonderful life, partly because of her super personality, her ability to cope with renal failure, and to appear as if she had no disease. She was totally, totally [laughing] actively normal in her look, her dress, her behaviour. A lot of people had no idea that she was in renal failure.

Really?

Even when she was dialysing. Unless they knew her well, then they couldn't avoid finding out. And never mind when she was transplanted. I mean, then it was much easier of course.

So was life very normal then?

Absolutely. And that's very much an amazing part of her character. Far from being, being oppressed or depressed by it - of course there were times of those feelings, but she never, ever showed them. And to her friends, she was a bubbly cheerful totally normal person, with two small children [laughing], and on dialysis, or going to the operating theatre and having to have a second transplant, or whatever. It's not easy. So I couldn't admire her ability to cope with it more. And it's not given to everybody, so it was an astonishing characteristic, that people didn't even know she was ill, a lot of the time. 
Frequently people spoke about the support they received from their families or loved ones (see also Alport Syndrome - family life, hobbies and interests). People said that their attitude was often shaped by this. Angela said she had a “get on with it” attitude ingrained in her as a child and she took the same approach now with her children. She also said she was a “realist not an optimist”. Kevin and Paul both said they preferred to talk about other things aside from Alport Syndrome, whilst Robin said he didn’t like to “dwell on it”. Although several people spoke about not wanting to talk about Alport Syndrome, others had sought out talking therapies and felt it was important to speak to others about living with Alport Syndrome.
 

Dee says that having a good outlook helps her get through dialysis.

Dee says that having a good outlook helps her get through dialysis.

Age at interview: 51
Sex: Female
Age at diagnosis: 48
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Well the doctors have all said to me, the reason why I'm doing so well on the dialysis and everything like that is because of my outlook. You know, I'm just - I'm grateful for it. And I don't think of it as life-changing, I just feel it's a supplement to my life, just something I need to do. I mean, it's funny, because my grandchildren, family, have been absolutely fantastic. So supportive. And as I say, the worst thing was finding out they had it as well. But they're not guaranteed to develop full blown, they can just be carriers. It could be with them and die off with them, or it could develop. So they don't know until they're older. But they've been so supportive. And it's been absolutely - yeah, fantastic. Really, really good. And [my grandson] went to school one day, and when I went to pick him up after school, the teacher said to me "Can I have a word with you?" And I said "Yeah, sure." And she said "Have you got any health problems?" I said "Yeah, I have. Why?" She said "Well [my grandson] turned round and said to me "My Grandma plugs herself into the mains every night" [laughing]. And I said "Well, technically." So I explained to her what it was, and they all call me RoboGran now [laughing]. "Look, it's RoboGran." So yeah, it's - it's good to have a good outlook on things, definitely. Yeah.
 

Michelle wants her children to live their lives to the full.

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Michelle wants her children to live their lives to the full.

Age at interview: 47
Sex: Female
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No, I just try to let them do whatever they want to do. [My daughter] went off to Kenya for a month.

Oh, wow.

And I had to let her go off and do voluntary work in the middle of nowhere. And then she went off to America for six months, to work in [corporation]. And I just ensured that she had all her medical information with her, so that if there was a problem - and that she had the right medical insurance. Think it's like anything, isn't it, you have to live - you either live life to the full and do what you want to do, or you sit back and let this whatever take over your life and rule your life. I don't want them to do that. Want them to live their lives, and do whatever they want to do. And if on the way we experience any problems, then we'll deal with them, I suppose.

Yeah, kind of. It's a bit of a balance, isn't it, this fear of the unknown, but then once you know sometimes too much knowledge - if you've got too much knowledge about something, sometimes it can be a bad, bad thing. It's trying to put it into perspective and think well they're both really fit and healthy, they're both enjoying life, living life to the full - you know, within their age group, sort of thing. Long may that continue, sort of thing.

There's no point worrying about something that never happens. That's easier said than done sometimes, but-. Yeah, you don't know what is round the corner. But no one does, really.
 

Alan talks about dealing with dialysis and his attitude of picking himself up.

Alan talks about dealing with dialysis and his attitude of picking himself up.

Age at interview: 49
Sex: Male
Age at diagnosis: 19
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Well it's a bit - you know, I won't kid you, you know, but. It's automated. You know? You, you just have to get on with it, you know? If I don't go on there, the grim reality of course, you know? Couldn't live without it. So, you know. I try and make the whole experience as pleasurable as I can. You know? Obviously there's other people there to talk to. You know. I mean, where I am, you know, there's - majority of it's a lot of elderly. And you know, but being a bit younger, I feel as though I should be a bit more bubbly. You know, get on with it. It's a bit like, it's a bit like the depression, you know? You know you're suffering from it, but you try and override it, you know? You know, constantly saying, 'come on, pick yourself up, and' you know. But I had that drummed into me by the family, "Come on." Or, you know. You know, I've watched through my mother, you know, I've watched two brothers suffering. You know? Of course. There's, it's a thing in our family because both my Mum's brother, brothers - both 21 when they died. And I was 21, but luckily I got through.

Well, try to - try as much as possible to keep, you know, positive about it. You know? Always think that there's a hope. You know, there are - technology is increasing, you know, improving. That's the way I look at things. And, you know. Yes, just to be positive. Yeah.
People expressed different opinions about information, some felt that having information had helped them cope, but others found it made them feel worse. Michelle wondered whether too much knowledge about Alport Syndrome could be bad. Kevin advised others not to look up information online. Other people like to look up information. Donna said that she connected with others through online support groups: “I think it's fantastic that there's people out there, that you can talk to and compare notes”. Paul said he felt ambivalent about connecting with others but did post messages and helped others on an online support group because he felt he could answer a lot of questions (see Alport Syndrome - getting information). 

Many people’s positive attitude was shaped by hope for the future because of medical and research advances. Some enjoyed being pro-active by helping with research, raising awareness of the condition and some were actively involved in charity events and online forums. Steve said the development of kidneys from stem cells was “promising”. Neil and Diane, and Angela all felt early treatment with blood pressure tablets to “hold off” and prevent kidney problems was encouraging. Robin who had gone through two transplants said he felt much better informed now about medical procedures. Amanda felt differently and said she didn’t like to get her “hopes up too much” about scientific progress because there would likely be a cost for the NHS.
 

Lucy feels the research on medication such as ACE inhibitors is encouraging.

Lucy feels the research on medication such as ACE inhibitors is encouraging.

Age at interview: 38
Sex: Female
Age at diagnosis: 8
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Well the ACE inhibitors that they seem to offer some. So, as well as obviously having their, they're dealing with the blood pressure as well as having that effect, they seem to offer some protection to the kidneys and they seem to slow the decline and the damage that’s done to kidneys. And I'm never entirely sure whether the actual, the leakage of protein through the kidneys causes the damage or is a sign of the damage, but the ACE inhibitors seem to limit that anyway; they seem to slow that in a patient who already has that; they seem to limit that I think is my understanding. 

But they, the research that’s happening at the moment, obviously it's only a longitudinal studies so it just takes forever doesn’t it? 

But the, the results that they’ve been getting look really promising in terms of the earlier in the process, the earlier in the sort of symptoms the patient is given the ACE inhibitors, the longer the delay before the symptoms progress.

And it looked, so I mean the geneticist is saying you know it's early days and it's very early to be drawing firm conclusions. It does look encouraging but it, you know tread with caution. But I was really encouraged by some of the results which seemed to show that if people were given ACE inhibitors before they showed any symptoms those patients are still healthy.
 

Alan is hopeful about the development of an artificial kidney.

Alan is hopeful about the development of an artificial kidney.

Age at interview: 49
Sex: Male
Age at diagnosis: 19
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So, but I'm hoping to get back on the transplant list. If I can't for some reason, I'd be geared up to an artificial kidney. It seems to me that they're trying to phase out dialysis. You know? Because it. And that would be the best - you know - thing, I think. You know? Because, you know, it does take so much of your time from your life, you know? So I'd be all for having either a - well, I say either - I think they do a belt. They do a belt that goes round your waist, and that's an artificial kidney. They do an implantable one. Like, like a - I don't know, but I'm sort of comparing with a pacemaker. Like a pacemaker sort of thing, you know, that goes inside you. Plus then again there's always 3D printing, I think they call it, stem cell. So, it's all in the pipeline. But it's, it's to think about, you know? Gives you a positive outlook, thinking.
People often spoke about living in the “here and now” and some people said they tried not to think about the future too much. They spoke about their hobbies, interests and holidays as well as work and relationships which helped them cope. People had different concerns about their futures. Some who had transplants talked about their new kidney and how long it would last. Often people referred to stories in the media about the longest kidney transplant which gave them hope for their own. Parents with children who had Alport Syndrome worried about if and when their children might develop symptoms. Dee who was on dialysis for the first time said she was going to see a transplant coordinator to discuss a transplant in the future. Debra, Katie and Sarah said they didn’t worry too much about the future because they looked to other female members of their family who were well. Karen was still waiting for “the call” as she had been on the transplant list for 1 year and 9 months (since filming her interview, she has had a transplant). Deborah was looking forward to getting married this year and wanted to look into family planning after this. Donna wanted to eat healthily and exercise to help her kidney function. Michael Y said he wanted to travel and perhaps live abroad in the immediate future.
 

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.

Age at interview: 40
Sex: Female
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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.
 

Amanda describes her fears and worries about the future for her son and her.

Amanda describes her fears and worries about the future for her son and her.

Age at interview: 39
Sex: Female
Age at diagnosis: 33
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It's hard sometimes. It is very hard. Because you don't know what the future holds. You hope and pray that it's - For myself, I suppose I hope and pray that I'm gonna be well enough to help my son. And am I still gonna be here to help my son? Because that's I think to myself, I want to be fit and well, to try and support him through something that I know is gonna happen. I don't have any control of this happening. It is definitely gonna go to that procedure, whether I like it or not. And I hope that I'm around to help him go through that. That's a worry as well, because obviously it was always about him, and how - you know - oh, I need to think about him, how's his future gonna be? And then obviously until somebody makes you aware that, "Well, you need to be here to help him through that as well." And I'm like 'well, yeah I suppose I do'. So that, that itself is a bit concerning, that - you know - hope I'm still gonna be here to help him through. Which hopefully if I behave myself, and look after myself well, then I'd like to think it would be. But, who knows? Who knows? You just don't know. But yet again, I always put him first. And it's always - always thinking of him, you know, how is the future gonna be? Is he gonna be unwell? Is he gonna meet somebody? Is he gonna get married? Is he gonna have kids of his own? Then there's that worry. You know, is he gonna pass the gene on to his own children? Which if he has boys, then we're laughing. If he has girls, then it's a totally different story - it's a fifty-fifty chance. So yeah, there's that as well, that you - in the future generations, this is gonna get passed on. And then he needs to think about that himself, when he's got - if he gets a partner, and decide on children, and then - you know - he's gonna be fit enough to get a job? You know, how's he gonna do in career? And how's he gonna do in school, and? What happens if it happens when he's at high school? You know, how's that gonna affect his education? So everything - everything is sort of a constant worry, I think, that you - you try not to look too much into it, but sometimes you don't have an option, you have to think about it, you have to look into it, and you need to think 'well, I don't actually know'. So, are you torturing yourself by not knowing, and wondering about these things? Or do you just try and live for each day and just be normal? Be a normal family, treat him normally. And if he does wrong, he knows he does wrong, he's not wrapped in a cotton wool ball - he's treated like a normal child. Yep, I feel absolutely devastated for him and I can't believe it, but to us he's just our son, he's just normal. We need to remember that. And then people on the outside don't treat him any differently, because they can't see an issue. They don't know. They don't know anything. Look at him, you wouldn't even know there's anything wrong with him. He looks fine. Look at him, he's fine. You know? And he is fine. He is. Until that day comes that things do change. And then your whole life changes. His whole life changes, our whole life changes. And that's gonna be hard to take. Because obviously at the moment, you know, I work part time and I work around [my son] at the moment. You know, would I have to give up my job? You know, things like that. Who knows. I don't really know how - if it's gonna be the dialysis at home, depending on his age, or will it be - you know - having to take him to hospitals for the dialysis machine three times a week? You know, even the thought of that, you know sitting on a machine for hours. You know, is he gonna be well after it? You know, is it gonna affect the other days that he isn't on a machine? All that kind of worry, I suppose. You just don't know how the future's gonna hold. So sometimes it's easier not to think about it, and live for day to day, than dwell on it too much and try and ruin the good times that you've got. 
 

Kevin is aware his transplant won’t last forever but feels his work will fit around his future.

Kevin is aware his transplant won’t last forever but feels his work will fit around his future.

Age at interview: 42
Sex: Male
Age at diagnosis: 6
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Yeah I mean, I suppose - right now, I feel okay about the future. But I am aware that transplants don't last forever. I was only in my early thirties when I had the transplant, so it's not gonna last me the rest of my life. So at some point, I'm either gonna end up back on dialysis, or I'm gonna have another transplant, or both. I have no idea when that will be. It might be next year, it might be ten years, twenty - I don't know. So I can't try working around that. So I'm just getting on with my life. And one of the reasons, if I'm honest - well, not one of the reasons, one of the minor reasons for me doing the teacher training is that I was aware that it was probably a job I could do if I was dialysing. I might only be able to do it part-time, but I was conscious that when I went into teaching that this would be something that I might be able to continue with if my health does deteriorate. And that's important, because like I say, I didn't have anything that I could do last time, and I don't want to be in that situation again. I've had some ups and downs with my health when I first went into teaching - I was only teaching two hours a week when I started, just kind of the interim. But because of that, I also know that if I need to take a step back a little bit, then I can at least carry on teaching. So yeah, so that's one of the things I've been thinking about for my, my own future. But the rest of it? I'll just deal with it when it arrives. Can't give it too much thought because it's not here yet. And we'll just deal with it when we have to.
 

When Frances thinks about the future she looks to her aunt who was relatively healthy.

When Frances thinks about the future she looks to her aunt who was relatively healthy.

Age at interview: 35
Sex: Female
Age at diagnosis: 16
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And how do you feel about your own Alports? And sort of like the future? Does it worry you at all, or?

No. To be honest. I think because my, my aunt was like 70 - she just died last year. And she had a really quite relatively normal life. And we and her were really, really close and we used to chat about that, and she always says the only time she ever had any problem was when she was pregnant. And that's what, I said "Well, that's the only time I really had any bother, when I was pregnant." Because obviously this wee person inside you is putting all this extra strain on your body. The only thing - she was the same with blood pressure, really. And when we used to chat, and she'd say "Oh, when I was a wee girl I used to always sleep in the afternoon, and didn't know why I was so tired all the time, and things." She says, "And then it wasn't until I was older and then I realised it was my blood pressure." And I'm like "I'm the same." Come three o'clock and I could just go for a wee nap. And I'm still like that. I come home from my work and I'm like [groan]. If I sit down any longer than five minutes I'm sleeping. But I'm like no, you just need to kind of keep going, but. That's the only thing. So it's just a change to your lifestyle, and trying to not limit yourself, but also realising your limitations. You know?
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