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Alport Syndrome

Alport Syndrome - getting a kidney transplant

Several people we spoke to with Alport Syndrome had a kidney transplant. Some were on their second or third transplants. People were often put on the transplant waiting list when they experienced kidney failure and were on dialysis. People were on the transplant list for various lengths of time – some waited five or six years while others waited a year or less. Sometimes dialysis stopped working very well and a transplant was needed sooner. For those with a family member or “live donor” the wait was often shorter and some people avoided dialysis completely. Diane said she just missed dialysis because Neil her partner donated his kidney. Steve’s close friend donated his kidney to him, and he was only on dialysis for seven months. Richard X’s dad donated his first kidney whilst his mum donated his second.

Whilst not all people had kidney failure, they talked about the thought of having a transplant and expressed mixed feelings. Patrick, Jago and Wilf who have X-linked Alport Syndrome and are on blood pressure medication expected to get a transplant at some point in their lives and said it was “inevitable”. As Patrick said “I’m not looking forward to it but I’m not scared of it either”. Kevin felt reassured because he’d seen his brother go through the operation a few years earlier. Richard X said that dialysis was a “stop-gap” but a transplant was the “ultimate thing”.
 

Jago and Wilf talk about their kidney function decreasing in the future.

Jago and Wilf talk about their kidney function decreasing in the future.

Age at interview: 17
Sex: Male
Age at diagnosis: 11
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Jago: I think we know that it's not going to just suddenly happen. The kidneys' function is just basically decreasing and decreasing, so it's able to do less things for your body. So cleaning the blood more effectively, and controlling your salts, and stuff like that. Bringing back water into your body. All these things that is going to happen less effectively, and might even just stop happening altogether. Which is then when you have to have your transplant. Because you need all these things to either live, or live healthily. So I think that's what we understand. But then we can't - even doctors don't know when it's gonna happen. It's impossible to predict, because it's entirely random. But all that we know is that we can put it off for as long as we can, by remembering to take our pills, by being fit, by eating well. That's kind of our understanding of the kidney failure.

Wilf: It's a rare disease. There's not much info on it. It is rare. So there's not - well, there is understanding of it, but not as much as you would like, I guess.
 

Karen talks about being on the transplant list and waiting for a donor.

Karen talks about being on the transplant list and waiting for a donor.

Age at interview: 42
Sex: Female
Age at diagnosis: 33
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How does that feel at the moment for you?

A long time [laughs] and its one year eight months, and my uncle got his at two year nine months. The average waiting is three and a half years now because there's been a drop in donations. In the last year they’ve had the first drop since kind of donations started. So, they're trying to, you know campaign to get more awareness. And Wales have actually just gone in the opt-out system where you have to opt-out if you don’t want your, to donate rather than say you want to donate yeah. So, they’ve just opted out, so hopefully England will come in line with that. And yeah so there's no live donation for me. I don’t agree with live donation anyway so I have to have a, you know, somebody who's yeah died basically. And there's two types that you can have. There's ones that are still the heart's beating, so on life support; and then there's ones that are, their heart's stopped - same long term outcome, but different short term. So, the heart stopped one can take about a month for it to actually start, so you would continue on dialysis until it actually started. But obviously you know the heart beating one, that’s a better one to have. Well live would be the ultimate because, you know you're getting a kidney immediately from one person to another.

You have to be in within an hour; so I have to be within an hour of the hospital all the time. So, if I went abroad I would have to come off the transplant list; I would have to suspend myself while I'm abroad. So, I've not been on any kind of holiday or anything before that. Even if you went kind of three hours away from home you would have to notify the hospital and you wouldn’t be getting a transplant if it came up while you were that far away from home. So, it does kind of, it does restrict you to stay in, in your immediate area, but obviously you don’t want to suspend yourself because a kidney might come up in that time and you miss it you know. And I think it's important to say though that a kidney transplant's not a cure. People do think that it is a cure but it's not; it's just another treatment. It basically takes you off dialysis but you’ve still got all the side-effects that you’ve developed while you’ve got kidney disease at the same time, plus you go on immunosuppressant drugs so you’re going to pick up every kind of infection. So, it's not a cure but it is better than being on dialysis; it just frees you up. You know I'm not going to be at the hospital three times a week, every week you know. Even Christmas doesn’t count you know - dialysis still goes on, and it would just give me that break from dialysis. And also it can fail; you can reject it; there is lots of pitfalls. So, I'm trying not to get, not to pin all my hopes on getting a transplant because it, a lot can go wrong you know. A lot can go right, I mean there's a guy just celebrated his fortieth anniversary with a, with a kidney which is like the longest transplant in the history of kidney transplants. Lots of people live in twenty years but the average is eight. So, within eight years you're going to be back on dialysis you know in theory, so it's not a cure; it is just another treatment form so yeah.
 

Michael Y says that he wants to do lots of things before dialysis or a transplant.

Michael Y says that he wants to do lots of things before dialysis or a transplant.

Age at interview: 25
Sex: Male
Age at diagnosis: 24
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Just oh yeah, in the future I'll probably need to go on dialysis or get a kidney transplant, so. Because it's not physically there yet, I think we're both sort of just trying to get as much stuff done now, as well. Just because travelling will be a lot harder then than it is now [laugh].

Is that because of the Alports in the back of your mind? Or is that -

It's kind of like acted as sort of a catalyst to it, I think. It's kind of just been like 'well, this is gonna catch up with me eventually, so might as well do the things I want to do before I'm sort of not able to for a while, if I'm on dialysis or if I'm - have a transplant', and things like that.
Those people who were waiting for a ‘cadaveric’ donor (from someone who has died) often spoke about “the phone call” telling them a donor was available. From the moment of the call, the transplant can happen very quickly. Debra remembers vividly being twelve years old and her dad getting the call for a transplant which was a “huge thing”. Kevin said he knew he was on the transplant list, but “just figured that the call would or wouldn't come, at some point”. Angela remembers her husband picking up the phone in the night and then thinking that he had dreamt it. Mariam remembers getting the call at seven in the morning when getting ready for school and breaking down crying.
 

Robin recalls getting the call for his second transplant.

Robin recalls getting the call for his second transplant.

Age at interview: 62
Sex: Male
Age at diagnosis: 26
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Oh yes in the sense there is no comparison. I. it was equally dramatic or traumatic, no, dramatic is a better word. I just remember being in a business meeting at work one afternoon for… 4 o’clock said, “Robin we’ve got a transplant for you. Can you get in here?” And [ah] I just remember around to people in the middle of the meeting and saying, “I’m sorry I’ve got to go and have a transplant.” There sort of was complete silence. I said, “Well I think it’s probably a good reason for calling this meeting early then don’t you?”

[Laugh]

And so off I toddled and so I remember just going from the office to the hospital like 4 o’clock in the afternoon and doing the transplant, phoning my wife to say, “Transplant’s on. I’m on my way.” That caused a complete scatter because my wife and two - two young sons at school. And I think I was in hospital for a couple of weeks probably, probably less than that. I don’t, I don’t remember exactly but it certainly was none of the drama, none of the trauma the second time around. That much I certainly recollect being up and about and kidney started to work after about a week. It was a few days before it got going. One thing you particularly are aware of it that and the various drugs accentuate this is that your emotions are thrown all over the place when this is all going on. It’s partly a result of the drugs. It’s partly a result of what’s going on. Physically it’s partly, exactly what you’re undergoing anyway but your emotions go up and down, up and down. I mean to extremes because of your body, the whole, everything in your body is changing, all your chemistry levels are changing in your body. You know, your emotions are completely being thrown around because of all of that. And, and the slightest change in your physical condition can cause you to think, “Oh this is rejecting. It’s not working.” And it can, it’s a very, it can take some handling.
 

Angela recalls getting the call for her transplant in the middle of the night.

Angela recalls getting the call for her transplant in the middle of the night.

Age at interview: 40
Sex: Female
Age at diagnosis: 10
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And that was like, something like Wednesday 6th February. And the week, the weekend before we went out on the Friday night, actually to a Korfball sports social event, and we were out quite late [laughing]. And got back on Friday night, like one or two in the morning, went to bed. And about four o'clock in the morning the phone rang, to say there was a transplant available. My husband answered it because the phone was by his side of the bed, and he put the phone down. And then he had dial - is it 1571 in those days? To check who called you?

Because he wasn't sure whether he'd actually dreamt it or not [laughing]. And then we both kind of got up. We live round the corner from [hospital name], sort of… most of the time. We kind of got up and went to the hospital because they wanted to see us. Then we got there and we suddenly thought - suddenly we thought "Oh my gosh, we were out really late last night." Like we probably shouldn't have driven, or my husband probably shouldn't have driven. And I then, I then had to - combination with the earlier story makes me sound like I was an alcoholic or whatever [laughing]. But I then remember having to say to the people at the hospital "Can you still have a transplant - because we had quite a lot to drink" [laughing]. That's my recollection of it. But then actually we actually had to sit around for quite a long time, because they - they basically then - although your details were on the transplant list, they basically retest you. I presume to make sure nothing's changed, for whatever reason, and everything's still okay. So then by the time they take your blood and it goes off and it's tested, and it wasn't until like five o'clock that evening anyway, in the end.
Others said that even though they got the call they thought that there was always the possibility of being sent back home. Kevin had been warned that more than one person is contacted and they wait and see who is the best match, so he was prepared for disappointment.
 

When Paul and Christine got the call which then didn’t go ahead they actually felt very positive leaving the hospital.

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When Paul and Christine got the call which then didn’t go ahead they actually felt very positive leaving the hospital.

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Christine: We had a call, and we went.

Paul: No, we actually had a meeting with the transplant –

Christine: No, I'm talking about the -

Paul: Yeah, I know. But before that, we had a meeting with them. First one said "No chance." Second one said "We'll look at it, we'll have a word with [the doctor]. We'll look at it, and we'll see what we can do." And soon as he took over, I got a -

Christine: It was more positive, wasn't it.

Paul: Yeah. He, he kind of, "No, we'll get something sorted. Don't worry, there will be an opportunity."

So you must have felt quite hopeful that you - 

Paul: Yeah. Well, we just - yeah. Okay, we've told other, you'll probably just - we only met him first time, second time possibly. And we didn't know, didn't know him, really. So we didn't know what to take him from the next person, you know?

So we just got back on with it, and the dialysis. And then probably a year, year and a half later, we got one call. Middle of the night. Rushed up to [the hospital] as quick as we could. Sat there for a long time.

Christine: Hours [laughing].

Paul: It was over a day, wasn't it. Oh, and I had dialysis as well, went on dialysis for a few hours as well, to get ready, get my system all right and everything. And then while I was on dialysis, he came and said the kidney wasn't viable, it wasn't going to go ahead. So although we were disappointed, it had actually given us hope.

We went away from there quite hopeful, didn't we.

Christine: It was - yeah, it was a strange feeling. Because we didn't expect to get that call. And then we did. And you would think that then it not going ahead, the outcome would be - well, we got something we were told we were never gonna get. That was it. That was that chance come, and gone. It's, you know. The chances were thin. So it's just never gonna - that's it, it's gone. That moment has come and gone. It wasn't viable. Let's go back. And we thought that actually would knock you. In my mind, when got told that, I thought 'he's not gonna survive that'. But actually, on the way home -

Paul: Mmm. I was buzzing. Mmm.

Christine: - we, it sort of went in the complete other direction. Because actually, getting the call made us realise that there was always the hope. And the chance.

Paul: You actually are on the list. Do you know what I mean? You don't know that you're on the list. You're told you're on the list, but you've got no real way of knowing that they're actually looking at your name when a kidney becomes available. You've got no way of knowing that. And you can be on it for ten years, like I was, and not even know that - you know - are they looking at my name? Have they just forgotten it? Or have I dropped off the bottom somewhere? Have they forgotten about me? You don't know.
 

Sammy’s first call didn’t lead to a transplant because her white blood count was high.

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Sammy’s first call didn’t lead to a transplant because her white blood count was high.

Age at interview: 36
Sex: Female
Age at diagnosis: 17
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Right I got called in, in April.

Before April? Yeah. End of March, one time. And it's after five years. I did, you know, go in and see. You could ring them, and it's like why aren't I getting called in? Because it's been like two or three years, and normally they did say it's a two or three year wait. And they're like "Oh, because you've got a rare tissue type." I'm like 'Oh, brilliant. Now I've got a rare - Alport -'

Is that what they told you, then?

Yeah.

Okay.

'Now I've got a rare tissue type.' I was like oh I’m just that rare. But then I thought 'okay, don't worry, it'll happen one day'. And it did. They called me in. And they were like "Are you fit and healthy?" I'm like "Yeah, yeah, yeah." Even though I had a flu a couple of weeks before, but I recovered from it. But they took about 24 bottles of blood, and tested everything. Like, you know, the white blood cells, every single blood test going under the sun, before they could give you the kidney. They come back. "Oh, you can't have the transplant now." "Why not?" "Because your white blood cell level's too high, indicating that you've got some kind of infection." And they're like "If we cut you open, and if we give you a kidney and it's not going to be good - waste of your life, waste of the kidney." So I was like really upset. Because I obviously waited five years for it, and I was quite upset. And plus in January, for four months before my transplant, in January I started - 2008, started doing haemodialysis, because the CAPD - and I hated it. Every other day I was fainting. Like, you know, because of low blood pressure, and like the needle didn't even go in, my arm was always bruised, and. It wasn't working as well. And it was just so horrible, I just really, really hated it. And I was so upset. Because that's when the first time I felt like really ill. I carried on working, and I used to go on dialysis Tuesday, Thursday and Saturday. And I used to go in at five, six o'clock. So my husband dropped me off. But he works night, so I needed a lift back. So when I finished, - we used to go in about five, six. And I used to finish at about eleven, twelve. Sometimes one o'clock, because I’d be fainting so much, and - or sometimes there was something wrong with the machine or something. And I'd be in like physical pain, and they had to stop it for a while. And I'd come home really dizzy. And I'd come home starving. But I didn't have no food, because obviously there are no one like cooking for me. And I did have to warm up just whatever food I had. But honestly, I had no energy.

Because that's when I felt really, really bad. And even this one, when they called us in the second time - and the first time I obviously felt really sad, went home, and I had like told all my family, and they're like - you know, this aunty just rang - she was in Saudi doing pilgrimage. You know, this mini one? She said "I prayed to god that you'll get it." And then one of the nurses who put me on - used to put me on dialysis, she'd just come back from doing the pilgrimage, and she goes "I prayed for you." And then there was this nurse, that obviously I did spend a day in the hospital when I was gonna get the first kidney. And she goes "Okay, we'll see you soon." And I'm thinking 'why am I gonna see you soon? I've waited five years, you think I'm gonna come back that quickly?' But it just - when they called me again, and I had the successful transplant, it was just like everyone was just so amazingly happy.

And the reaction of people was just so amazing. It was just so overwhelming. It was like I didn't really think they would be that happy. But even like this colleague I used to work with, and she was my cousin's friend, and she'd be like "Ah, I did a little prayer thing for you." And I'm like "Did you? Why would you do that?" It's like "Ah, I'm so happy for you." And it was just so overwhelming.
Others who had a live donation talked about the process leading up to the date or being allocated “a space” for their operation. Having a family member or friend donate a kidney could generate some guilt among people we talked to. Richard X said he didn’t want to put someone through “what I thought was a life threatening operation for me”. He reflected on how difficult it must have been for his mum to worry about both him and his dad who was donating his kidney to her. Another person said that her husband’s blood group wasn’t a good match for their son with Alport Syndrome, and that this might mean he isn’t able to donate in the future. She also had a family relative who had two sons with Alport Syndrome and felt the decision to donate to one of them would be extremely difficult.
 

Steve’s donor lived in another country and things moved very quickly.

Steve’s donor lived in another country and things moved very quickly.

Age at interview: 37
Sex: Male
Age at diagnosis: 3
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And so the transplant was, the testing was all rushed through because my donor lived in another country and he had to come over and so they managed to get that all done quite quickly and we were fortunate that a space became available for the transplant quite early on. So, it was supposed to be about a year I think they would have taken but yeah only, only seven months so yeah.

Well it's just the timeframe that it all happened really. By the time he could be arranged to come over and get tested; it usually takes about three months I think, but with him they managed to get all the tests done in the space of a week. 

Right

They gave us a window for, not sure when it was now, sometime in August I think and a space became available in May, so yeah it all kind of jumped forward, it was all very last minute but it, yeah but I'm fortunate again that I had a live donor. I've known people that are on dialysis for years, like many, many years that weren't fortunate enough to find a match.

How did you feel with the run up to the transplantation?

I, honestly I started to have doubts but only when my, only where my daughter was concerned. My grandfather died when my mum was very young and she grew up never really knowing him, and my daughter at the time was, you know she was one year old. So, I had the same fear that if there's something wrong with the operation that she might grow up never knowing me.

And but then you kind of look at the other side of things where I couldn’t stand dialysis forever and you can't have a like a normal life on haemodialysis really. So, it was the better option and yeah there was fear, but at the same time I was generally too tired to really let that kind of affect me and I'm glad for that I think cos once I had the operation immediately my mind kind of came alive again.
Before the operation, people described going through various tests including fitness, urine and blood tests. Steve needed iron injections beforehand to reduce his anaemia. Live donors also had to be in good health and were taken to surgery before the recipient.
 

Steve describes what happened before his transplant and his donor going into theatre first.

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Steve describes what happened before his transplant and his donor going into theatre first.

Age at interview: 37
Sex: Male
Age at diagnosis: 3
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Right, so my donor flew over from Sweden where he was living at the time and he stayed with us for a couple of days, and we went to the hospital the day before to have some more tests; I had to have a final dialysis as well which thankfully was the last one. They were concerned that, that my donor, [name], had had, he may have had a cold which would have just stopped the operation straight away.

Right

So they were keeping an eye on him because, you know his airways had to be clear for the operation and everything.

Yes yeah

So but yeah on the morning of the, so, we both stayed at the hospital the night before. I had one last dialysis which he sat through me with, yeah sat through with me. And we stayed on the ward which anyone that’s stayed at hospital, in a hospital knows that it's loud and bright. So, come the morning we were both quite grumpy. He went down before I did.

Because they do the whole job of kind of, you know getting him prepared, opening him up, see if the kidney's good, see if they can, you know just to make sure that it's removed OK and as they're doing that they then wheeled me down to the next theatre. Yeah so that was -. I should probably have felt scared but I don’t remember feeling scared. I think that the whole thing just happens really quickly.

They don’t give you much of a chance to kind of get into a really worried place. They're really reassuring and they kind of show up – there are half a dozen of them and then they just wheel you away and yeah so. Yeah they take you downstairs, they give you a couple of injections and I think they asked me to count ten maybe.

Is this the anesthetic?

Yeah

Yeah

And then nothing else. And then I woke up in a recovery room and apparently the first thing I asked for was a bacon sandwich, not how my donor was; not, not to tell my family I'm OK – can I have a bacon sandwich?
People described their experiences of going through a transplant operation in different ways; “nerve-wracking”, fear that something might go wrong, mixed emotions or relief.
 

Alison describes how she felt getting a transplant.

Alison describes how she felt getting a transplant.

Age at interview: 33
Sex: Female
Age at diagnosis: 20
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How did you feel?

It was mixed emotions. It's funny. Because you - I'd been on the waiting list for three and a half years. And you always had to have your phone on you, and - you'd think you would, I mean. Yeah. So I just, it was - it was mixed emotions. And I think my first emotion, I was relieved. And then, and then came the sorrow for the family who've just lost somebody that they loved. And, and then there was - nervousness started to kick in as well. So, basically just had to put a bag together and rush down to [hospital], as they don't do the transplants here in [local hospital].

Yeah. I didn't feel excited about having the transplant itself. The first emotion was feeling for the family. And I remember actually being admitted to the ward, and the surgeon coming to tell me the, the situation that it was coming from, a male in his twenties. And I remember saying to her how I just feel for the family, and - you know - I'd like to write to them one day to thank them. And she was quite shocked that I was feeling like that. She said most patients are talking about themselves and how excited they are, that they're going to get this transplant. But I'm sure there are other people who've felt the same as me, they maybe just haven't said it to the, to the surgeon. But it's - yeah, mixed emotions. I remember when we were driving down to [hospital], everybody being happy for me, and phoning me, and-. But at the same time I didn't allow myself to feel too happy because I knew there was still a lot that could go wrong. For example, when I was actually in the, the ward after the transplant, I was sharing a room with other transplant patients. So some were liver, kidney. And some of them were saying how that was their third or fourth time that they'd been called for a transplant, but it - you know - for whatever reason, it wasn't suitable. Or they'd perhaps had a bit of a cold, and were sent home. So I was aware of what could go wrong, so I wouldn't allow myself to, to think too far ahead, and just take each step as it comes.

So, what happened then? Can you tell me? 

Yeah. So when we arrived in [hospital], we was taken through to the ward. And they had to do various tests to make sure that I was fit enough to undergo a major procedure. They took your weight and took your bloods, and sort of various other things, a sample of urine. So I was told everything with that was fine, and that they would have to do various tests on the transplant kidney to make sure it was suitable. So I was - I think we arrived in [hospital] at about 8pm, and I was told that I would be going through to the theatre around about midnight. But in the end, various delays, it happened at six, six in the morning I was taken through to theatre. So I wasn't worried at all, because I knew I was in capable hands, and as soon as I came out of the theatre, my creatinine, which they - it's one of the things they measure in your blood, to determine how well your kidneys are functioning - that went, had gone up considerably, just in a matter of hours. And continued to go up and up. Sorry. Down [laughing].

So that started - you could see that -

Yeah, so - so before the transplant it was way up at one thousand two hundred, and I had bloods taken just yesterday, and the creatine was ninety, so.
 

Neil and Diane describe going through their transplant operation as a couple.

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Neil and Diane describe going through their transplant operation as a couple.

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How did you feel prior to the operation? Were you apprehensive, or were you okay, or how?

Neil: It wasn't too bad actually. Spoken to - we'd been to see a couple who'd donated as well, they sort of encourage you to go and meet other couples who've done it. So we went to see a couple in [place], and had a chat with them. They're very good, they give you any support you want really, you know. And they're, they're available after the op as well. I mean, recently I had an issue with my blood pressure tablets and I spoke to [name], who was our transplant coordinator. So they're, you know, really helpful now. And they were really keen to hear about the kids as well, because xxx good thing about that.

Well then they - so they, once I got to a stage where they were happy with my blood pressure, then they - they just have to decide when they're gonna do it. And they just give you a date really, and say "We're gonna do it then." I mean, they do it as quickly as possible, because they knew Di was going downhill, and they don't want her to go onto dialysis, they want to avoid that, at all costs, because you've got a better chance of, you know, it working if you're not on dialysis. They prefer you not to. Because dialysis is a poor substitute for a, for a kidney. So they - yeah, they arranged it within, you know, a few months. I don't really remember actually the time from when they said yes you can do it, to when you could do it - you know, when you can just do the op. And they set a date. And then we, you know, arranged with family and friends to - because we were gonna need some assistance, obviously there was just the two of us and we were both gonna be recovering from an operation. I was probably gonna be out in three days, Di probably five to ten days. No, seven to ten days they said, with you. And so my sister came and picked me up, and helped me get home, and stayed around for a day or so. But I had keyhole surgery, so it wasn't too bad. It was, you know, it was quite a quick recovery. When Di's Dad had his kidney removed, it was - they used to slice down - yeah. They used to slice down the side, across the muscle. So he was out for three months, six months, something? It was quite a while.

Diane: Yeah. Yeah. He was, couldn't really move for six months. He was just sort of sitting in the garden. So he was quite scared, obviously, because of his experience.

Neil: Yeah.

He was dreading what were we gonna look like. And came in the next day, and walking around the ward, and I'm sitting up in bed.

Neil: Yeah.

Diane: He was like "Ooh" [laughing].

Neil: Because with, when they put a kidney in, you don't - because obviously your kidneys are at the back, and you think "Oh my goodness, you know, to put a new kidney in there, they're gonna have to do all sorts of things. But they don't, they put it at the front. 

So, you know, the kidneys at the back just shrivel up and die. And then the new kidney goes at the front. And they connect it all up there, and Di's got a little lump at the front.
For more on transplants see our site on ‘Organ donation’.
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