Alport Syndrome

A range of emotions came up during each interview. People spoke about the fears they had, and times when they had been confused or upset as well as their feelings of hope and anticipation for the future. Having Alport Syndrome was described as “normality”, “a family legacy”, “one of those things”, “it doesn’t impact my life” to “it changes life… just like that”, “I’m not somebody with Alports, I’m me”, and “I just want to get on with my life away from it”. Cynthia who had three transplants said, “I never come to terms with it” while Angela said “I don't like to think that's the main thing that people would think about me”. 

There were particular “crunch points” which people told us about; periods of time when “reality kicks in” or they faced a particular piece of news or change in their circumstances. These could be very stressful and emotional times, for example:

• Dealing with or coming to terms with a diagnosis (even if suspected or anticipated).
• Starting dialysis and getting an access point fitted (e.g. a catheter).
• Being out of work or having to give up work due to ill health. 
• Before and after a transplant – dealing with all the emotions of being a donor recipient.
• Pregnancy and making reproductive choices.
• Problems with medical treatment and care – not being informed, or not getting the support or help needed at critical times.
• For carers, partners and family, when a loved one gets very ill or dies.

People also spoke about their day to day issues and general struggles. Watching, waiting and worrying about potential kidney failure affected some people we talked to. Angela described being scared when she realised she would have kidney failure because she didn’t know you could live with it. Those on dialysis talked about dealing with the daily and weekly routines of dialysing and their hopes and fears of being on the transplant list. Paul said the last five years of dialysis before his third transplant were a real strain. People talked about facing or thinking about the future – including not knowing how their (or their children’s) Alport Syndrome may develop. Jago said that dialysis really scared him in the future, much more than a transplant. Jayne worried about both her sons’ hearing loss in the future. Angela said she wanted to make sure she was healthy until her children had grown up. Katie and Sarah felt positive about the future, but also were not sure how Alport Syndrome might affect them. People said fitting in all the regular appointments and check-ups whilst working and trying to maintain a normal life could sometimes be a struggle.

Frances says everyone copes in different ways and although she worries about her son she is positive about the future.

Frances says everyone copes in different ways and although she worries about her son she is positive about the future.

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Age at interview: 35

Sex: Female

Age at diagnosis: 16

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My cousin, my Dad's sister's boy, his kidneys failed when he was in his twenties. But he didn't cope very well at all. He was - I think because he was so young, as well. You know, really young. Didn't like it, hated it, felt as if his life was ruined, and just really, really sad. And he died when he was 42, I think. He ended up turning to drugs. Because he was so depressed. Just felt as if he had no life, because he was just on the machine, or on his bed. And that's another thing that they don't tell you, that - what it actually does to the person. I think because my, my Dad was really good, we had a - obviously my Mum, my Dad, we had the three kids, but we'd a really good family as well, and really good support network. So did my cousin. You know? But everybody's different, and he just dealt with it differently, and he - he just did not cope. And he took the wrong path, unfortunately, and unfortunately we lost him at a really, really young age. Because, and that's what it was. It was just because - and my, my aunt blamed herself as well, because like she was the exact same as my Dad, she thought it was like her fault because her, her boy wasn't well. So I think things like that worry me as well, I worry about that, I worry about my son, I worry about what's going to happen to him, how his life's going. But I also - I'm worried, but I'm also very, very positive, because I know how much things have changed. I know that since, you know, it all first started in our family nearly thirty years ago - god, that seems forever - that things have massively changed.

They're growing kidneys and all sorts of stuff now, so hopefully by the time that he's older, when he - if he does need. It says on the enalapril that he's on, it's actually been known to stop kidney failure. And we've looked into all sorts. And I think it's a good thing, and it's a bad thing. Doctor says this is this, this is that, and you go 'right, okay'. Home, straight away, google. And everybody does it. And it just fills your head full of stuff. And you're going to all these forums and websites and for weeks and weeks and weeks after then, I was just crying all the time, and just looking at all these stories of all these people, and - and I was thinking of the negatives, and focusing on that, rather than thinking about all the good stories and all the, you know, how people are still here, whereas years ago if that happened they wouldn't be here. You know, the person would have died. Whereas now it's just completely different.

Frequently people said they tried to live “normally” and wanted to retain normality often through having hobbies, interests or going on holidays. They also talked about living for each day and trying to stay positive. Others spoke about not wanting to be “defined” by having Alport Syndrome (see People’s attitude to Alport Syndrome and their outlook for the future).

Robin says he doesn’t want to get personified by Alport Syndrome.

Robin says he doesn’t want to get personified by Alport Syndrome.

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Age at interview: 62

Sex: Male

Age at diagnosis: 26

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Again I worked throughout that time and I think one of the important things for us as a family and for dealing with this disease is that you don’t get personified by it, that you continue to have a life and a career and everything else outside of the, the illness. And it is possible to do that. There’s no question in my mind that with the dialysis techniques these days and a transplant it, it’s absolutely possible to live a normal life although, you know you have to do, manage it much more carefully.

I think if you can, if you can exercise normality to the extent that it’s possible to do so it makes your life a lot easier. I’ve never found it particularly useful to be characterised by this disease.

Donna says that having Alport Syndrome makes her more conscious of living each day.

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Donna says that having Alport Syndrome makes her more conscious of living each day.

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Age at interview: 47

Sex: Female

Age at diagnosis: 3

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I do read up about it, but that is the most frustrating thing with Alports, because nobody can give you a prognosis. It is literally just each day, as - you know - as I've found out over the last year. Each day as it comes, you know? Every day could be different. You know? Anything could happen. Like this cold, for instance, that I've been having for the last four weeks. That could have an effect on my kidney function. You know? It is just so frustrating that you just literally - all you can do is just take each day and enjoy it, and hope for the best. And help yourself by eating properly, and - and exercising. 

I do feel like - I mean, it - it's the same as, you know, any of us could get run over by a bus tomorrow. So, I do think - I still think 'oh, there's all these things I want to do in my life that I haven't done, that I've got to do'. And I think having Alports, you're more conscious and more aware of the fact that life feels more limited, than - you know - if you haven't got a condition like that. You probably don't even consider about, you know, how, where you're gonna end up. 

People often spoke about the rarity of the condition and how often other people had not heard of Alport Syndrome although they were not surprised by this. Debra didn’t like to “announce” to people she had Alport Syndrome and only told close friends. Michelle felt that her children were “unique” as their strain of Alport Syndrome (autosomal recessive) was “less serious” than other strains.

Neil and Diane talk about telling others about Alport Syndrome.

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Neil and Diane talk about telling others about Alport Syndrome.

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Age at diagnosis: 35

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Neil: Well obviously our family know. But yeah, other friends know as well. 

About who knows we have Alports in the family. I mean, I'm pretty open about telling people about the kids as well, you know.

Diane: Not many people know about the kids.

Neil: A few people do though.

Diane: Yeah.

Neil: A few people know. Probably less people know about the kids than, than Di. You know, in fact probably a lot of the time, you know, we probably just say she had kidney failure. She's had a transplant, but they don't know why. Some do, some don't, I guess.

What do you find people's reaction, when you say Alports, or?

Neil: Dunno really. I mean, they - most people haven't heard of it, have they. You don't - unless you, unless you know of the condition, you know someone in the family, you're never gonna have heard of it. It's one of those conditions that's not well known. Is it one in - what's the rate? One in twenty thousand? Hundred thousand? Do you know?

Not –

Neil: It's small, isn't it.

Yeah, it's quite - yeah.

Neil: It's pretty unique. We're unique.

In terms of emotional support, family and friends were often important although some people described feeling isolated and lonely. Cynthia said “it's worse for the person who's the carer, or the onlooker”. Some people said they didn’t want to bother family members or wanted to keep Alport Syndrome away from their daily lives. Paul for example, said he tries to direct the anger he has “against the disease” by keeping it away from family life. Parents often spoke about feeling guilty if their children had inherited Alport Syndrome.

Karen, Philip and Mary say how they felt with Anthony being the only person in their family with Alport Syndrome.

Karen, Philip and Mary say how they felt with Anthony being the only person in their family with Alport Syndrome.

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Karen: Well you feel guilty, don't you, that you're alright.

Mary: Well you do, but - you do, but –But you try and help them.

Karen: You try and help them, but.

Philip: There's nothing you can do, is there.

Mary: There's nothing you can really do, is there. Well, there wasn't. We didn't know, I didn't know about Alports. But there's nothing you can say, because you're not sick, are you.

Karen: But you do, you are more protective of them.

Philip: Yeah.

Karen: I was really protective of him, and I know Mum and Dad were. Because you know it's just a natural thing to do, isn't it. You over-compensate because you know what they're going through. But he wasn't the type of person that wanted people to feel sorry for him, was he.

Mary: Well not really, no. But I think in the end, he'd -

Karen: But it seemed that everything that kind of could go wrong, went wrong with him.

Mary: Everything, well that's it. 

Karen: But none of us. We were kind of all alright. And it did impact - you know - he was an intelligent lad, wasn't he.

Mary: Oh, yeah.

Philip: Oh, yeah.

Karen: He could have - you know - he could have gone on and done something great. And he did do good things with his life, didn't he.

Mary: Oh, yeah.

Karen: But you do wonder, you know, if he hadn't been deaf would he have done differently at school? Could he have chosen a different, like a different career path.

Mary: I think - yeah. 

Karen: But like I say, his character, because of what he had to go through, did change. And he became a stronger character because of it, didn't he.

Philip: Never stopped him doing anything, you know.

Mary: Yeah. Used to go camping, and take the children camping and things. Yeah. He were quite strong-minded, weren't he, really.

Karen: Yeah, that's what I'm saying. You know, other people may not have done what he did to the extent that he did, but he was that type of character. If he wanted to do something –

Mary: He did it.

Karen: - you could argue with him 'til you were blue in the face but he'd still do it, wouldn't he.

Philip: Mmm.

Mary: Mmm, yeah. So that's a nice thing. And it's nice that we really had him in our life, isn't it. Yeah.

Karen: I remember that time when he went out and got drunk when he were on dialysis, and my Mum had to give him dialysis [laughing].

Mary: And his friends used to come, and it's just nice isn't it, really, that they can do these things.

Karen: But that's just a teenager, isn't it, you know - 17, 18.

Mary: And he never moaned then, did he. He never moaned with his dialysis, really.

Karen: He moaned about the food. I remember him moaning. And we all said "God, I don't know how you're gonna eat some of that" [laughing]. The pasta, and is just looked like –

Mary: What you had to do, you'd to like - you know if you had potatoes, you'd to boil the potassium out of them first, to get rid of it. And so he could eat the stuff. And then it weren't going into his system.

Karen: It'd be easier for somebody now, having to have that kind of diet, because people having different diets is more widespread. 

But then, it was like a rarity, wasn't it.

Support 

Other types of help and support were also crucial for many people. Several had sought counselling or psychological support. Alan said he had bouts of deep depression and found a renal counsellor who was “compassionate”. Some people we spoke to were on antidepressant medication. Some said that the medication they took could cause their emotions to be all over the place (see side effects). Amanda said she thought that getting psychological support was crucial because the condition is so rare. After the traumatic experience of going through her transplant, Mariam said she saw a psychologist who helped her with her sleep problems. Sammy said she felt her religion and faith are what has “kept me going throughout”. Robin said he preferred to have more information than talking with somebody externally. Paul said he didn’t like to socialise with others with Alport Syndrome and said this was his “defence against the disease”.

Paul and Christine talk about how Alport Syndrome has affected Paul and how he has dealt with it.

Paul and Christine talk about how Alport Syndrome has affected Paul and how he has dealt with it.

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Paul: It is a case of, you know –

Christine: - for you. Yeah.

Paul: - that defence mechanism of - I've got anger against the whole disease. I don't like it, I don't want it, I've never wanted it. I hate it. But I direct that anger by, you know, keeping it away from our life as much as possible. Obviously it has an impact, and it's going to, and sometimes you can't keep it out. But when you can, try and - try and keep it away as much as possible.

That's what I do. That's just my way of dealing with it.

Christine: Well life at home went on pretty much normal. Because it wasn't - to a degree, wasn't under our noses, was it.

Paul: But then the effects of dialysis. I would come home, I know I would be tired. I'd be really hungry. So I'd want something to eat straight away. That's the only time I ever ate, was straight after dialysis. I didn't have an appetite the rest of the time. I'd only eat straight after that. I'd have a big meal, and then I'd go to bed. Because I'd dialyse - I'd leave work about half-two, three o'clock. I'd get to dialysis about four. Get on the machine, do four hours. Probably back home by eight. Have something to eat. Straight to bed. Sleep. Get up in the morning, feel a bit more refreshed. And then go off to work. It kind of - yeah, that was just the way of dealing with it, wasn't it.

Christine: Yeah, I suppose everybody deals with it very differently, and what suits one family might not suit another.

Christine: I mean, there's times when it has got you down, because - you know - it's the nature of the, how it is, but. 

Paul: Yeah –

Christine: Does depend on what sort of person you are, and how you deal with it really, and what - how you deal with it as a family.

Paul: I think the younger you are. Coming from my point of view, I've always lived with it. So I can remember being in hospital at like 5, 6 years old. And I can remember my Mum and Dad going off, and the lifts closing, and - you know - I was there on my own, or with my brother, or whatever. And I had to get on with it, and had to deal with it. And I can remember that many a time, being left in the children's ward at all sorts of different ages. And just seeing your parents walk over the bridge, out towards London Bridge.

Christine: To go home, yeah. Yeah.

Paul: Yeah. And you couldn't. And you had to just turn around and get through the night. Or couple of days, or weeks, or whatever it was you were in. So I think I built up a-. A very hard person, haven't I.

Christine: Well it's made you the person you are, hasn't it. It's made you the person you are, I wouldn't say hard. But you have to deal with things don't you.

Paul: Cold-hearted beep, you would say [Laughing].

Christine: No, no. You have to build up your own defences, don't you, against a horrible type of illness, any type of illness. So, you know, you have to build up barriers to stop yourself getting overcome by it all, or hurt by it all. And that's just - it's just made you who you are, really. In some respects, that can be a really good thing. You know? Out of bad does come good. You know, so it's made you deal with things differently, that's all.

Paul: Yeah. I don't know whether I'd have been stronger if I hadn't have had all the problems, or what. I don't know. But I am - but I do put up a big fight about it. 

Christine: And it was different when you were younger. So if you're a person, you know - if you're young in years, you have got more energy and perhaps you shrug off some things, don't you. But as you get older, it's not so easy, I suppose, if you're going into.

Paul: It's certainly got harder the older I've got, to deal with things. And I think that's a case of you know what's coming. You know what you've got to go through. Like this third transplant was - don't want to put people off having a transplant because I'd do it every time, but it was hell and back. It was, it wasn't good. But you get through it, and you come out the other side. But because I knew what was coming, I was dreading the call. As much as I was hoping for one, I was dreading it at the same time. I knew what I had to go through, what was coming up.

Richard Y felt he got a lot out of seeking help from “outside”.

Richard Y felt he got a lot out of seeking help from “outside”.

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Age at interview: 37

Sex: Male

Age at diagnosis: 23

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I think any medical condition that, yeah. Chronic medical condition. Or anybody who feels that way. Or if somebody said to them, "You're not yourself." Yeah. Because I had a family friend who'd also had a transplant. And, through a different disease, polycystic kidney disease. He had a deceased donor. And he really struggled with that feeling of guilt, from when I spoke to him - he was thirty years older than me. And he said he found speaking to somebody outside of his social group, his family - didn't feel like he was putting pressure on those people to help him, or to try and fix him. He could go away on his own, and do that as well. I don't think it worked as well as it has - for him, as it has for me. But he recommended it when I initially put that out there. So I'd, I'd say that anybody who's sort of been through a transplant, chronic illness, that if it's available and you feel it's necessary, or someone outside - oh, sorry - someone from the outside said "Maybe this is what you should look for." You know, yeah. Make that step. I think that was the, that was the difficult part. Admitting to myself. But once I'd done that it was so easy. And got so much more from it than anything else.

And so that was for eight weeks. And then? What happened then?

That was it. The person I spoke to felt that I'd got the techniques in place. And "Did I feel comfortable with them?" She asked me that. I said, "I feel okay." She said, "Look, I don't think there's anything, anything more we can do." With this session, I don't know if it was like that was the kind of session, it was planned out or anything. But she said, "If you've got these strategies, methods to try and cope with it, you can identify it, then go away. If you have problems, then please speak to your renal team, they can re-refer you again, and we'll happily see you again. But we feel that you're okay." 

Sarah and Katie talk about Sarah going through anxiety and depression and whether Alport Syndrome was a factor.

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Sarah and Katie talk about Sarah going through anxiety and depression and whether Alport Syndrome was a factor.

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Sarah: I've also had like mental health issues as well. I've recently like gotten over it, but it was in the end of 2012, 2013. Which was just after we'd like solidified all that Alports stuff. So I was really stressed out. And then to go through all that as well, sort of like.

Can you tell me a bit about that? What sort of - did you feel low, or was it sort of?

Sarah: It was sort of - it wasn't to do with Alports specifically. But I suffered from depression and anxiety, sort of things. I haven't had medication for it, though it was offered to me. But I think I was asked when I went to the doctors whether they think that the Alports could have been a reason, and I was like - it did upset me, because I thought about my future and all that, but it wasn't as big as a contributor as other things were. But it was, like I was stressed out already because of that, so.

So it was a sort of contributory factor, amongst other things.

Sarah: Mmm. Yeah.

And how were you feeling at that time?

Sarah: I was quite bad, at the time. And Alports was sort of there as well, as being another things that was wrong with me, so. That wasn't fun, but. I'm a lot better now, so.

I was going to say - how did you sort of support - where did you get your support from, or how did you manage that?

Sarah: I've been - I went to counselling for a while, but that didn't really help me that much. And I think going out of high school and moving into college helped a lot, because I wasn't in that environment any more. And I think I only told Mum and Katie recently [laugh]. Because obviously they knew something was going on, but they didn't - I tried to keep it from them. And I went to the doctors on my own and stuff, so.

Really? So you actually tried to manage things quite a lot on your own then?

Sarah: Yeah.

How did you feel about that, Katie, finding out, or?

Katie: Well I was quite - it was like very big part of everything, it was really huge. Very shocking. And it was strange, because she'd already kind of been through it, without us knowing. And then she decided to tell us. And I was like "Oh, okay." I mean, I'd say you've told me quite a lot about what happened, and I know most of the stuff that happened.

Alan says that he saw a renal counsellor which helped him.

Alan says that he saw a renal counsellor which helped him.

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Age at interview: 49

Sex: Male

Age at diagnosis: 19

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But no, I mean, I've had, when I started dialysis again in 2014, I did see the renal counsellor, or the renal psychiatrist.

Okay.

Yeah. And she was very good, you know, I told her all - all about my relationships, how I coped day to day with the dialysis. And it, I would recommend anyone, you know, with the problems like myself to, you know - don't be proud. You know? Do it. No skin off my nose. Because there was things I could say to her, that I couldn't say to my family, you know?

It's a necessity really, you know? I mean, I can't remember when I first started dialysis if there was a renal psychiatrist or counsellor back then, I can't remember. I mean, we're talking '85, I started dialysis, you know, dialysis. But yes, I feel as though it did me - it was beneficial, you know? And I'd had, you know , when I'd hit all - you know - all-time lows, I'd seek counselling somewhere else as well, but I feel between the comparison of the two, I think the renal one's more compassionate.

Many people also found support through connecting with others via social media and charities. Some got involved in transplant sports, or charity events. People spoke about feeling less isolated and knowing that others understood what they were going through.

Frances felt it was useful seeking out others in the same situation.

Frances felt it was useful seeking out others in the same situation.

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Age at interview: 35

Sex: Female

Age at diagnosis: 16

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Guilt is definitely the thing with Alports that they don't tell you about. They don't tell you that you're gonna feel this way. And I don't think even - like when I first found out about my son, then they offer you all this help and that, I just didn't want to speak to anybody. Because I just they don't know anything, they're all these professionals who are telling me all this stuff, and they don't actually know how I'm feeling. They don't know what it feels like. And that's when I was like - I want to start talking to other people who've got similar kind of things, and. And that's how, you know, that I joined the Alports thing. And, you know, I like - I started doing stuff with Kidney Kids, and because the other people who have actually gone through the same kind of things as you, you don't feel so alone, you realise that there's people who are much worse off than you. We went to that weekend and there were lots of kids there, and lots of them are on dialysis, lots of the kids - you know - had bags and different things, and getting fed through tubes and all sorts. And I was just like, just realised how lucky we actually are. He's running about playing, and - you know - "Can we go into the swimming pool." And, you know, just drinking a bottle of juice, no bother. And, you know, I could hear this one guy saying to his wee girl that he's, going "No, that's true, you've had 175ml, you know, you can't drink any more just now," kind of thing. And I'm thinking, you know - I don't have that problem yet. So just think about what I have got, rather than being worried about, you know, what could happen, because it's not happened yet, so just enjoy it while it's there. So now I just, we've just got on with life. Nothing stops us. My wee one's mad, he's into everything. Goes to football, goes to swimming, goes to all the sports, does everything that - you know - all his wee friends do. And you wouldn't notice any difference between them, and that's the way I want it to be. Just because he's got a genetic condition doesn't mean that he's different.

Steve had a lot of anxiety after his transplant and found it helpful to talk to others in a similar situation.

Steve had a lot of anxiety after his transplant and found it helpful to talk to others in a similar situation.

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Age at interview: 37

Sex: Male

Age at diagnosis: 3

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I got a lot of anxiety after the transplant. The doctors tell you numbers; they give you averages for what, how long a kidney should last once it's been transplanted, and they tell you know the average is five years which seems like a really short amount of time. But then, so you kind of fixate on how long the kidney's going to last you know, and looking for symptoms and, you know really worrying about how long you’ve got before you’ve got to start it all again and wondering whether or not putting somebody else through a transplant like my friend; him giving me a kidney, if it's worth his pain or his trouble, and it's not until I started talking to people in similar situations that I've met. I mean, last year from the transplant sports team went to celebrate a thirtieth anniversary of a kidney with someone. So, it's continuously being exposed to things like that that shows you -. Some of the doctors give you averages; it's just based on averages for everyone you know, whatever age, whatever condition the person's in before the operation, whatever condition the kidney's in. You don’t know how they have looked after themselves so they just give you the raw information. So, you know I look after myself as best I can; I eat the right things, I take my tablets and I'm meeting other people that do the same thing that have had kidneys for a very long time – it gives you a lot of hope that, that that would be the same for me, and in that regard I don’t really worry so much anymore.