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Robin

Age at interview: 62
Age at diagnosis: 26
Brief Outline: Robin was diagnosed with X-linked Alport Syndrome at the age of 26. He has had 2 kidney transplants so far, and he is waiting for the third one. Robin has worked throughout, and he maintains that one can live a full life despite having kidney failure.
Background: Robin works part time as a bank director. He is married and has two sons, aged 25 and 28. Ethnicity: White English.

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Robin became aware of the first symptoms at the age of 12 when his hearing started to decline. He also started experiencing fatigue, loss of appetite, and muscle cramps. The doctors found traces of blood in his urine, but they never followed it up. Although Robin’s symptoms got progressively worse during his 20s, he feels they never interfered with his day-to-day life.

He was finally diagnosed with Alport Syndrome at the age of 26 after he experienced kidney failure while on a business trip. As he was “extremely unwell” at the time, he felt it was “a bit of a relief” to go on dialysis because he believed it would make him feel better. He remembers the first dialysis session vividly: after the excess fluid was taken off his body, he felt like he “was walking on air”. After 18 months, he received his first transplant. As immune-suppressants were rudimentary at the time, he experienced several viral infections. Robin’s kidney started declining 13 years after the transplant. He feels that as the decline was a gradual process, it was “carefully managed medically”. Although his second transplant felt a less dramatic process, he found that the medication made his mood fluctuate much more. He wishes the doctors had warned him about the side effects because he thinks he would have been better equipped to deal with his low mood, had he known what caused it. At the moment, Robin is waiting for his third kidney transplant, and his doctor is in the process of arranging him a live donation.

Robin got married after his first kidney failure, and took part in genetic counselling for family planning purposes. He has two sons who do not carry the Alport gene, and Robin is relieved to know that his condition will not be passed on. During all this time, Robin also worked full-time in the financial sector. He believes that “kidney failure as itself should not detract from your ability to undertake a professional career”. He maintains that hearing loss has a more disrupting effect and therefore his advice to newly diagnosed people is to “make sure that your hearing is addressed” with good hearing aids.

Robin receives most of his Alport Syndrome-related information from senior medical professionals. He has also been to an information day organised by Alport UK (a national charity and support group), and although he found it interesting to meet other people with the disease, he found it difficult seeing young people with Alport Syndrome and thinking about what is ahead of them. He wonders to what extent having information about Alport Syndrome is helpful if there is no available cure.

Robin is generally satisfied with the medical care he has received. He thinks that coordination and communication between the different disciplinary teams could be improved. However, he is very grateful for the healthcare professionals’ expertise and he maintains that the area of organ transplantation is “transformational”.
 

Robin explains how in his late 20s he got ill after an overseas business trip and was in the late stages of renal failure. It was then he was diagnosed with Alport Syndrome.

Robin explains how in his late 20s he got ill after an overseas business trip and was in the late stages of renal failure. It was then he was diagnosed with Alport Syndrome.

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So I would put it into two particular sections because one for my, when I first started experiencing symptoms. And didn’t know what they were. And then the second were really when I was actually diagnosed which was several years later. So from my early teens, 12/13 became aware that I was becoming deaf. That I was, had a lack of energy, was getting cramps, lack of appetite, so forth. And that got progressively worse during my teens and twenties. Deafness also increased but it was not until my late 20s during an overseas business trip that I got ill with an upset stomach. Became very dehydrated and came home that kidney failure was, and Alports was actually diagnosed. So by which time I was 26 but I’d had effectively the symptoms and progressive deterioration in kidney function from some, I guess for some 16 years prior to that.

Yes 28 and around that time yeah, yes. And what, what happened is I was actually on an overseas business trip. It was actually in, in the Middle East. I got a bug of some description it got very dehydrated. And so I suspect my kidney function was pretty much close to zero or 10 or 20% whatever it would have been, very, very low. As a result of all that I literally barely could not walk. I just felt as though you’ve got lead weights on you. And so I flew back. Said, “I really don’t feel, really feel very unwell here.” I flew back and I saw my. The day I came back I saw my doctor within the company. And he literally took about 5 minutes to look at me. He didn’t say what the problem was but he clearly knew what the problem was and he referred me to I think that same afternoon to a, what was then the Renal Un-, Group at [the hospital]. Said, “I would like you to go and see these people this afternoon.” And I got there that afternoon and I became a test case for the first time in my life because I was at a very late stage of renal failure unknowingly, then not dialysing. So they said, “We really would like to keep you in for a few days to really get you back up on your feet a little bit.” And that was my first introduction to the student groups of attendees at [the hospital]. So been well-used to meeting groups like that over the years. So it’s been import- I think it’s an important part of education of these people. You do get to meet patients in different stages of the, of the disease to see what’s going on and how to recognise it.

He clearly from what I described as being my symptoms and presumably just able to look at me and see I was, I must have been extremely anaemic apart from anything else was. I think he probably without knowing it was actually Alport’s he probably was able to identify renal failure. That’s what I would suppose although again he didn’t say that to me. But he just referred me direct to a renal consultant. And I think that was, he clearly knew what the issue was in it’s most generic sense.
 

Robin describes the medication he takes for different symptoms.

Robin describes the medication he takes for different symptoms.

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So medication is an interesting one. At various times, various points I’ve had very high blood pressure and very low blood pressure. The first transplant I had to do with the nature of the organ I received caused me to have very, very high blood pressure, seriously high blood pressure. So I got treatment for that, not entirely satisfactory treatment for that but I would say more to do with the limitations of the treatments that were available more than any lack of attention to it. So that was fine.

This calcification issue causes a lot of problems and a lot of medical. It caused a stomach ulcer, caused my tendons to rupture, all kinds of stuff over the years and so that the. I’m taking, I take stuff like a medicine now for stomach, keep the stomach settled, that kind of stuff.

That’s improved over the years as with the side effects. The medications you take to keep phosphates in check is improved a lot. It’s much easier to take. It used to be a glass of water, mixed a powder, mixed up in a glass and that was your fluid intake gone for the day. So now it’s now a chewable tablet so that’s easier. The biggest, the biggest thing are, the biggest improvements for me have come around treatment for anaemia which the anaemia has, yeah it reduces your energy, it reduces your appetite. So the fact that that can now be dealt with very satisfactorily through medication is a massive improvement for me. And it’s all dealt with intravenously by dialysing so there’s no injections or anything. So that works very well. So that’s a massive improvement. I’m not taking very much. The, I had very low blood pressure for a while and the treatment for that was a dosage of a particular pill that my consultant was able to prescribe. But my GP was not actually licensed for use here. So that was a bit of a hassle. So my GP couldn’t prescribe it. My consultant had to prescribe it and when my consultant came down to the unit every three months she’d get some from the. Save me having to go up to the hospital to go to the pharmacy she’d bring it down with her. That’s, that’s service as far as I am concerned. That’s, you know, absolutely marvellous. But that wasn’t licensed here so she was able to give it but the GP wasn’t, that’s a bit of a business but it did what it needed to do. And so that’s ok. But generally speaking I think the only other observation around that is that all my interactions are with my consultant. I don’t have really much interaction with my GP. That’s, that’s something that happens. I probably see my GP every couple of years. Your prescriptions can all be done online now so I do them online. And it’s all done automatically and so.
 

When Robin’s kidney transplant began to fail, his results were heading down but he felt it was carefully managed.

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When Robin’s kidney transplant began to fail, his results were heading down but he felt it was carefully managed.

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I don’t have a lot of recollection of that. But I think because it was, it was much more carefully managed medically. There wasn’t, you know, they could see from the results. They were getting more frequent blood test results that things were heading down. It was much easier to prepare for it and I knew what was coming. So I just wasn’t just going off a cliff and becoming extremely ill. It was much more carefully managed. So apart from probably slowing up a bit and just generally not feeling great but just being more tired. It was more carefully managed. It wasn’t the sort of overall traumatic grinding to a halt trauma and all the rest of it that came from the first time around. Again they were able to manage the type of, set things up so I could have this operation for personal dialysis ahead of time. So when it was necessary to go I could start doing it straight away without having to be in hospital and all the rest of it. So maybe being in a day or two for the operation and then kicking straight off as the kidney started to fail.
 

Robin explains how he managed to travel for work while on dialysis.

Robin explains how he managed to travel for work while on dialysis.

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Well back in when I was 29 I wasn’t at that level so the issue [ha ha]. No it would have been. I spent the next 12 or 13 years with a transplant, one transplant. So I was only out of action effectively for about 18 months with dialysis so another 13/14 years I was back in the game so to speak. So it wasn’t an issue so I was, I was travelling around and the global bank it wasn’t so much of an issue. Went all over the place and, you know, from personal life, home life it meant we could do all the things that families do as I said. And then the form of dialysis that I went back on to which is peritoneum dialysis through the peritoneum meant that with a little bit of organisation I could travel. So again I have recollections. I think it’s still the case they have a, an overnight, what they call APD machine which is about the size of a small suitcase and so the way that you work it. The way that I certainly worked it is I had to go to New York quite regularly, about once a month and to be honest two or three other places. It was relatively easy then even those years ago, 20 years ago, and certainly now you have, the supplies you need delivered locally to your office or to the hotel where you are going to be. You take the machine on the plane with you. It goes in the hold. So I was about a week or two in New York and just again normal working day, working dinner whatever it would be and then use the peritoneal dialysis overnight when you’re asleep. So again it’s, it’s. You, you tailor it. You can’t be out for midnight. You’ve got to do your 8-hours or whatever but you, you. You know you have an early night you can dialyse overnight while you’re away on business and providing it’s not, you know, the back end of nowhere, is that you know it’s a relatively, you know, well developed centre as those the sort of places I went to. But you could do it. And I did.

So how did you find out about that machine? It’s called AP?

APD. 

APD.

It’s Automated Peritoneal Dialysis. I, the hospital would have introduced me to it and I’m. I’m glad to say at the time I started using it again it was a relatively new technique. I’m going back 20 years now, yeah probably. And so there weren’t that many of these things around but the fact that I was working fulltime and it would have benefitted me to be able to keep my job going fully, you know I was fortunate enough to get one of these things. So it doesn’t do a lot for your stress levels if you’re two or three thousand miles away and the machine packs up which can happen or you know, it doesn’t come off the conveyor belt at the airport, these sorts of things can give you a little bit of a heeby jeebies but it, on the whole very successful.
 

Robin remembers vividly his first dialysis session and how much better he felt.

Robin remembers vividly his first dialysis session and how much better he felt.

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I can remember it vividly. It’s this is, what are we now, it’s probably thirty odd years ago. I can remember having the first session vividly and given that you had no, no effective liver or kidney function for some years or certainly some months having the first dialysis session, the first time actually having excess fluid taken off your body. So you’ve probably got pounds and pounds of excess fluid on your body and poisons in your blood and a significant amount of that coming out of that coming out of your system, not perfectly but even able to do that. I remember just saying, you know, “We’re going to have to, you know, we’ll get you a chair back to the ward.” I said, “I don’t want a chair back to the ward.” I felt like I was walking on air.

Ah

It was just as though somebody had taken a weight off of my legs. So that, that was an amazing effect. But yes and course you’re tired, but so many of the other side effects diminished.
 

Robin recalls getting the call for his second transplant.

Robin recalls getting the call for his second transplant.

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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.
 

Robin says that there are emotional highs and lows after a transplant.

Robin says that there are emotional highs and lows after a transplant.

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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.

So how were your emotions during that time?

Oh I can remember being very high and very, very low, absolutely. You get very, very depressed. You think it’s not working and you get emotionally very, very high, you know, you think well, well what’s he on. You’re actually not really on anything. It’s just completely yeah high. But it, it does produce extremes no questions.

Quite extreme sort of emotions?

Yes absolutely.

The sort of things that you are going through and?

Yes and I don’t think, again maybe now but I do remember that side, especially not being dealt with quite so well medically but if you are having physical symptoms, physical indications but then you got to be very carefully monitored but the emotional aspects of what you are going through were not really being dealt with. And I just rem-. I just have one recollection of one nurse saying to me, “Oh you do know that this drug in particular when you do this will actually make you feel extremely depressed.” I said, “That’s the first time anybody told me that. If somebody had said that was the case I’d know a bit better how to deal with it.” It’s just a medical, sorry, it’s just driven by a chemical reaction that will ease off rather than saying, “Oh my goodness”, you know. “The whole world is tuning black.” In fact when she said that I actually felt better because I know this is something I can deal with. I felt that was something, I felt was a little bit lacking at that time.
 

Robin says that after thirteen years his first transplant failed.

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Robin says that after thirteen years his first transplant failed.

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Around thirteen years later the transplant eventually failed. And so there were certainly family memories of me getting slower and running to a halt and having been able to do less and less. So I switched to a different kind of dialysis thereafter for some time. There was forms of dialysis where you can do it through the peritoneum and overnight, which meant that I could still continue to travel overseas with my job and family holidays and so forth without being so restricted to machinery at a hospital or at home which was again very, very helpful. That took around five or six years before another transplant became available.
 

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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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.
 

Robin talks about when he first experienced hearing loss and hearing aids.

Robin talks about when he first experienced hearing loss and hearing aids.

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I have a slight recollection of not hearing things properly when I was about 12 or 13. There are just a couple of things at school that I think if somebody would say something to me or a teacher was saying something and I was completely unaware that I’d been spoken to. And you know, you’d just think, if you’re getting, you get a telling off for not paying attention and all the rest of that. I don’t think I wasn’t but anyway. And so the deafness was diagnosed, the fact that I was deaf was diagnosed around that time, early teens, 14, 13/14. Something around there as I recollect.

Hearing aids in those days were definitely not as well developed as the current digital aids are. And I had I would say absolutely that the deafness during education was a problem for me. No question in my mind that if you cannot hear properly when you are being educated and you’re thinking you can learn things it’s difficult and I’ve no, no question in my mind that something would be less of an issue these days because of the quality of hearing aids. In those days being deaf and seeking to be educated or being in a sociable professional occasions when you can’t hear properly was a problem, absolute problem. And I sadly certain in my own mind that my education suffered because of that.
 

Robin taught himself how to lip read which has been particularly useful in work meetings.

Robin taught himself how to lip read which has been particularly useful in work meetings.

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Well I don’t have any recollection of it affecting me professionally. I think by the time I got to 18/19 I was working. I certainly had hearing aids. They certainly weren’t perfect but, but they enabled me to function. I’m going to say effectively. And the reason I would say that is once, once you know you’ve got a problem you don’t know when you start to become deaf. If you are becoming deaf. You don’t know. You think this is the norm. Once you know you have deafness then you can actually to some extent manage your situations, where you sit, how you sit, where you face people to be able to at least, I think mitigate some of the effects of deafness. I’m told I’m an extremely good lip reader but nobody has ever taught me to do that but it’s just, it’s certainly. You do find yourself, put yourself in a situation where you face people rather than their back to you or in a meeting make sure you’re sitting in the right place in the meeting to be able to hear most things or if you’re at a conference or a talk to be sitting near the front. All those things you learn to do just to mitigate and it, and it works. By the time I was 18 I was kind of learning how to do that, but I don’t, in a school or education it’s not always possible to do that. And so I definitely think that was more difficult. I don’t have an issue. I don’t have a recollection of it professionally being an issue.
 

Robin said he did lots of extra preparation before meetings and presentations at work so he didn’t get caught out.

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Robin said he did lots of extra preparation before meetings and presentations at work so he didn’t get caught out.

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One of the things that comes to mind is professional life more than social life, [what] immediately comes to mind is that I suppose I’m much more, have become much more reliant or tended to make sure I was better prepped. So if I was going to a conference or a meeting or presentation to make sure I made the effort to read everything that was available. You know the handouts, the presentations. You kind of know, you’re not always necessarily going to catch everything if it’s a presentation or a conference or whatever. So if you’re better prepped and you know a bit more what is coming and you read the materials and so forth you can kind of compensate for that to some extent. And that kind of, that’s kind of something I suppose I’ve done over the years. So I’ve always got a bit cross with people who go along to these things and obviously haven’t done any of the pre-work or whatever, done any of the reading and so that’s something you tend to do. You tend to, raw material.
 

Robin met his wife to be before he had kidney failure and they married after his transplant.

Robin met his wife to be before he had kidney failure and they married after his transplant.

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I’d met my wife to be before my kidney failure was diagnosed. And it was then subsequently diagnosed. I went on dialysis. We planned to get married at some point and if a transplant had come through by the time we got married all very well and good. That would have changed other things. We my transplant came along in 1980. We got married in 1981. So I think I was dialysing from around 1978 sort of, you know, about 2 years, 1979 something around that time.

Did your wife know about, all about your Alports and… then?

Yes she did, yes she did. It was once, once I knew about it then she knew about it and it was at that time we had explained what kidney failure meant and we also again at that time. I think it was before we were married but certainly yes it would have been before we had this initial, very early genetic counselling around having children and what that might mean.

And for an X chromosome it was, you can’t pass it on if you are a man. Again that was as far as the research had gone at that time. I think some of these more, more unusual variants were not necessarily identified at that point. And it was a. I think some sort of case that if we had, had had girls there was, they would be carriers as I understand it. And I think, rightly or wrongly we took the view that by the time if we had a girl by the time that she had reached her 50 or 60s the idea was quite, I think quite strongly, that medical science would have moved to a degree that there may be less of an impact on their life than there would have been on, on mine as a man with a more severe condition. It was a view which as it happened two boys and the issue for us ends with me.
 

Robin says that dietary advice for people on dialysis is more user-friendly today compared to 30 years ago.

Robin says that dietary advice for people on dialysis is more user-friendly today compared to 30 years ago.

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But again I can remember the dietary restrictions when I first started dialysing 30 years ago. They have a much better understanding and the quality of dialysis while it’s still not perfect, it’s a lot better. And the quality of the dietary expertise and support which is available now. It’s so much more developed to what it was 30 years ago. It’s far more tailored to your own particular requirements, what you do enjoy and what you don’t enjoy and what your own system can handle. I have, I have a high tolerance to potassium and some people say I can have a bit of chocolate every day if I want to, you know, without going mad. So that’s a little bit better but it’s far more tailored rather than “you shall not have this” which was the issue when I first started off. Now you can have a bit of this, have a bit less of that. It’s far more, you know, user friendly, yeah I guess user friendly advice and that’s helpful. But I wouldn’t, I wouldn’t play it down. It’s a significant issue and something you have to be very careful about. And because it doesn’t, it’s hidden damage. It’s not something that’s necessarily going to make you feel ill if you eat something you shouldn’t. It just damages you over the long term. 
 

Robin mainly relies on his medical team at the hospital but sometimes goes online to read up on what he has been told.

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Robin mainly relies on his medical team at the hospital but sometimes goes online to read up on what he has been told.

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Well I think I know as much as I’m ever going to need to know. Let’s just put it that way. I probably don’t do as much active research than I do now. I kind of reaffirm, reconfirm what my type of Alport Syndrome is, what you know what the outcome would be. What the percentual mitigants are to that. What can and can’t be done. And so it, it’s helpful to reaffirm some of the things that you’ve been told directly by your own physicians. I suppose. You know it’s. I think I will still rely on my physician to be the primary source of information and then really if I just wanted to read around or understand a bit more about what I’ve been told in a consultation that’s when I would use the web rather than as the primary source. A) Sometimes it’s out of date, sometimes it inaccurate but more. You know certainly the physicians and the surgeons and so forth I work with up in [the hospital] I absolutely believe that, you know we’re in the best with, in the best places in the world to do with some of these things. And that’s where I’m going to learn exactly what the issues are and what’s happening and what, what needs to be done. If I want to read a bit more so I don’t take up all [the hospital] time then I can do that but that’s where I would ask my primary questions.
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