Richard X

Age at interview: 39

Age at diagnosis: 9

Brief Outline: Richard X was diagnosed with X-linked Alport Syndrome at the age of 9. He’s had two kidney transplants to date. He’s had partial hearing loss, but feels that Alport Syndrome doesn’t affect him in his day-to-day life.

Background: Richard X works full-time as a procurement manager. He is married with two children, a daughter the age of 14, and a son aged 11. Ethnicity: White British.

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Richard X was diagnosed with X-linked Alport Syndrome when he was 9, but wasn’t fully aware of the implications on his health until his parents explained it to him at the age of 15. He developed partial hearing loss as a child. Despite being aware that he had kidney problems, Richard X was shocked when he learnt that at some point in his life his kidneys would fail and he would need a transplant.

Richard X reached the final stage of renal failure when he was 21. He avoided having to go on dialysis because he received a kidney from his father. The process of his operation was broadcast by a national television channel. Richard X was happy to share his experiences on television, and was glad to see organ transplantation getting more publicity.
 
Richard X felt immediately better after the operation. However, he thought that the steroid he was prescribed made him moodier, and that the immunosuppressant made him more sick in the long run. He also felt that his social life at university was restricted after the transplantation: playing rugby, which used to be a major part of his life on campus, was out of the question as Richard had to avoid contact sports. He also put on weight because of the steroids he was taking, and it took him two years to get back into shape.

Richard X experienced the first symptoms of rejection three years after his operation. He was working as a primary school teacher at the time, but his continuing kidney problems meant he had to go part-time, and then later changed to an office job. When his kidneys failed the second time, Richard went on hospital dialysis three times a week for a year. Even though his dialysis schedule required him to go to a renal unit in a different city for a while, ultimately, Richard felt relieved because he believed it would make him feel better. He received his second kidney transplant from his mother as donor. This time it took Richard longer to recover, and he experienced more pain at the incision. 

Richard X celebrated the 11th anniversary of his second kidney this year. Other than the medication and the occasional hospital check-ups, he feels that his day-to-day life is not affected by his transplant. He experienced one episode of kidney infection, and he had his first transplanted kidney removed recently. Richard was working full-time throughout, and he is grateful that his employers were flexible enough to let him work from home during his recovery period. He has also taken part in genetic testing. His daughter is a carrier, and his son doesn’t carry the Alport gene. He intends to talk with his daughter about the condition in depth once she is older. 

Richard X’s message for health professionals is to listen to their patients, because it is the patient who knows how their body is affected. Similarly, Richard would like to let newly diagnosed people know that Alport Syndrome doesn’t have to be a life threatening condition. He would urge people to stay positive and to make sure they get the right information. Finally, Richard would like to see support networks providing more practical information for people who are at later stages of their diagnosis, and he would like to receive more practical advice on acquiring hearing aids.

Richard X describes the first signs of hearing loss at school when his teacher noticed him lip reading and not paying attention in class.

Okay, yeah so first of all it was probably my parents that found out quite early on that the first signs I showed was when I was at school and apparently the teacher called my parents in to speak to them because I wasn’t paying attention in class. and but they weren’t really sure why that was but they noticed I’d been lip reading so that was the first discovery that actually there was something wrong with my hearing because I was just naturally lip reading.

I’m not sure exactly how aware people were of Alports at the time. I think it was quite early on, I’m 39 now and that was probably when I was about six, so a good 33 years ago so I think it was probably, it was probably early stages in terms of you know, the knowledge about the actual Alports Syndrome.

But I think what happened in between that time and then they sort of put the pieces together as it were so I had, when I was eight, eight I think I had a biopsy on my kidney but I think actually there was something before that kidney related which was I was passing urine in my, sorry passing blood in my urine and that was what they linked the two, the hearing problems and also that symptom and linked it to Alports.

So I didn’t find out till, I knew I had kidney problems cos I was always in and out of hospital having blood tests from when I was a baby and I didn’t find out until I was about 16 that what it was and the extent of it and that eventually I’d have to have a transplant and go on dialysis first obviously.

Richard X describes the difference between him and someone who doesn’t have Alport Syndrome

The only difference I suppose between me and someone who didn’t have Alports was that I had hearing problems which people have hearing problems anyway for other reasons. And I had to go to the hospital regularly for check-ups and, and blood tests and I suppose the main symptom I got when I was  when my kidneys might have been struggling slightly was  if I had a cold or sore throat or something, that would really have an effect on my kidneys and so passing urine was difficult and painful so that was probably the only real symptom kidney wise.

Richard X discusses his feelings about not passing on the Alport gene.

It as quite a while ago and actually I think my daughters due to have some blood tests again I think every now and then just blood tests just to see, see if she’s still, because what can happen is she can develop some really minor symptoms like passing a bit of blood in her urine but hopefully never develop, you know, the major things in Alports. But I don’t know how far moved on since I last spoke to [geneticist] about selection of sex of children I don’t know how far its moved on actually I’m quite, quite interested to find out because there’s a big argument that you’re-creating designer babies and things like that but having, you know, there’s worst things to go through than, than Alports definitely than having Alports and been through what I’ve been through, if I had the choice between giving someone else Alports or not giving them Alports I’d much rather be able to choose not to. I don’t think there’s any, you know, there’s no choice at all and I can’t understand people arguing that, you know, it should be a natural thing and it’s you know, you’re-creating designer baby, I feel quite strongly about, you know, it’s not creating a blue eyed blonde haired baby it’s creating some, a baby without that defect.

Which has a serious impact on people’s lives.

Richard X had to get used to taking tablets when he was in his early 20s.

Yeah did you have like medication?

Yeah I was on medication daily at the time I think I was on three lots per day just because of the tablets I was on and so it was getting used to that as well, getting used to taking them a lot of the time on time and planning as well which when you’re 21/22, it’s not top priority to plan things it’s most things are fairly spontaneous and yeah so it was getting used to that side of things and to prioritise that over everything else. It didn’t really get in the way of life.

Richard X says taking medication for life is not a big deal as it keeps you alive.

Yeah it’s completely normal, you know, so I go for four month check-ups have my, take my tablets twice a day and once you get used to that it’s not, you know, it’s not really a big thing, people say taking them for life is, you know, it’s a big a big deal but it’s not really cos it keeps you alive, so if I didn’t take them then there’s a chance that my kidney might reject.
So it’s a small price to pay just to swallow a few pills a day, that’s it.

Richard X got seriously ill when his first kidney was rejected and his kidney function was very low.

Well after that unfortunately it got to the stage where my kidney was being rejected but there’s a certain level where you, they put you on the waiting list when it gets to a certain level and that level is where you’re in end stage renal failure. Unfortunately I think it affects different, high creatinine or whatever goes with having a high creatinine affects people in different ways and my measure, my figure was fairly low so the amount it was affecting me the figure was quite low compared to some people. So they were still using this measure to say right when, when you get to this stage you’re gonna go onto the waiting list and then we’ll put you on dialysis as well. But actually it turns out I was much more ill than I should have, well than in a text book perhaps I would have been at that stage to the point where I ended up having I collapsed on the kitchen floor and had about, it was about three days of not non-stop but I was, I was almost unconscious for that long. I had seizures for the whole three days on and off and I was just completely I lost three days of my life.

Oh my God.

So yeah, I mean it was a horrible, horrible experience. before that I’d had, I’ve always suffered with migraines and I started getting these really horrendous migraines, really bad migraines and it was obviously all linked to it and my blood pressure was something like, it was over, heaven knows the figures but it was about 210 over 160, something like that which is just about double what it should be.

And so I got something called Urinia [uraemia] which is where your blood is basically poison because my kidney wasn’t working properly and my blood pressure was awful and my blood was poisoned so that was obviously going into my brain and ended up having these fits. And I ended up in [Hospital name] and eventually after, after that episode they put me on, straight on dialysis which I really needed.

Richard X was weighed every time he went for dialysis to see how much fluid he was carrying.

So all of those sort of things were horrible and things that you just have to get used to when you’re on dialysis and you get found out if you don’t stick to it if you drink too much over one weekend and you’ve got the two day break, they weigh you, the first thing they do is weigh you every time you go for dialysis to see how much fluid you’ve got cos you’re not you’re not weeing at all, so everything that you drink stays on you. So if you have too much then you get found out, the nurses shout at you, literally cos it does you harm you know, it can affect your heart if you’ve got too much fluid.

Yes so all of those things and the diet and everything else was horrible so actually the second time round I was probably a lot more, I was a lot more knowledgeable about what it would involve the actual operation but I was also a lot more grateful I knew I’d be a lot more grateful for having the transplant because part of it I suppose I was a bit older and I knew what it was about but secondly because I’d had such a horrible time for the previous year or two before that, well more actually since my kidney started failing.

Steve describes kidney rejection three years after his first transplant.

Yeah so after, I can’t remember exactly when it was, but after about three years I started having a few problems with the kidney I had some rejection so rejection’s basically where your body decides it doesn’t want this new object inside your body and so it starts to fight against it, so white blood cells start fighting against it like it would with an infection. and so I had that and then they got that almost under control with a lot of steroids so I was in hospital for three days in a row and they just pumped me full of steroids so I had one gram at a time for three days which was, that was horrible it felt awful. [Tape 3, 08:07] so anyway I left the hospital after that and the kidney really never recovered properly after that first rejection and I had several biopsy’s to find out what was going on so where they take a bit of the kidney have a look under a microscope and just see what’s happening to the tissue find out what is exactly is causing the rejection. And they, they came to the conclusion, I can’t remember the technical name for it but it was something to do with the kidney becoming almost dried up because of, mainly because of that medication. So as medications that actually stop you from rejecting your kidney but then it was so toxic that it actually affected your kidney as well, but there’s a lot of, you know, there’s a lot of medication that have other side effects that you’re not necessarily aware of when you start taking them.

Yeah absolutely. so how, what was the first signs of you having a, like you said it was about three years.

The rejection?

Yeah how did you first know that that was happening?

I think I just, the only thing, the main thing with kidney problems is it’s not that you suddenly I don’t know collapse or something it’s that you start feeling so tired and it’s not just, you know, feeling tired like you do at night when you’ve had a hard day it’s just feeling to the point where you, you know, you don’t know what to do with yourself, you’re so tired. So it’s, it’s like that really and it’s quite hard to describe because it’s not a normal tiredness sometimes you can be really tired but actually quite happy because you’ve had a, you know, you’ve been for a long walk or you’ve had good, you know, a nice you’ve worked hard during that day and you feel sort of pleasantly tired, you’re gonna go to sleep that’s fine. But this is a sort of horrible tired where you’ve got no energy whatever you do, you’ve got no energy at all.

Richard X didn’t feel his previous employer was particularly understanding.

Yeah definitely because it’s hard to sort of its hard to break that sort of news to somebody and you don’t do it unless you’re really ill. So you don’t, you don’t, you know, outwardly you don’t say I’ve got this that and the other but when you’re ill obviously you have to because you’re off work and you have to explain yourself. But it’s really helpful to have someone that understands.

Yes, have you had that with previous employers?

No [laughter].

Do you mean like that just didn’t understand, or didn’t give you time off or?

It just always felt, it’s not that they were saying anything necessarily but it was always, you always felt pressure, so it wasn’t like they made you feel relaxed to, you know, to be able to go to appointments and things it was more you always felt like you needed to be back and they were clock watching.

And didn’t understand why and?

Yeah sort of didn’t trust you as you were, yeah.

Richard X remembers being weighed during dialysis and said the nurses would tell him off if he drank more than the recommended amount of 300ml.

Well the second time round, cos I was much more ill the second time round than before in the lead up to it cos the first time round they sort of caught it in time so I wasn’t really, it didn’t get to the point where I was really, really ill. The first the second time round they probably waited too long before I went on dialysis and then I ended up on, I kept going on dialysis on a really restrictive diet were you can’t have any potassium and you can’t have you can’t drink, I mean I could have I think 300 millilitres of fluid a day. So all of those sort of things were horrible and things that you just have to get used to when you’re on dialysis and you get found out if you don’t stick to it if you drink too much over one weekend and you’ve got the two day break, they weigh you, the first thing they do is weigh you every time you go for dialysis to see how much fluid you’ve got cos you’re not you’re not weeing at all, so everything that you drink stays on you. So if you have too much then you get found out, the nurses shout at you, literally cos it does you harm you know, it can affect your heart if you’ve got too much fluid.

Richard X says that he’s stopped drinking alcohol completely after his transplant.

They don’t really know sort of lifespan, I think a lot of it is, well a lot of it I think is down to how you look after yourself as well I do make a concerted effort now more than ever to make sure I’m doing the right thing in terms of trying to eat healthily although it’s not always, always possible for everyone. But also I’ve stopped drinking completely so I’ve stopped having alcohol just because I know hydration is such a big thing and although you can drink after a transplant I just, I’d rather minimise any risk of kidney failing again. And at some point in the future I’m sure it will, you know, there’s always reality of it which is, it’s not gonna last forever it’s my kidney is 68 so it’s my mum’s kidney, she’s 68 I think now so and it won’t last forever it’s it just depends how long, you know, if I can extend it for as long as possible then that’s what I’ll do.

Richard X believes that transplant surgery is now quite routine.

Yeah it’s I mean it’s one of those, it’s a condition which isn’t it’s not life threatening, I wouldn’t call it life threatening, it’s something which once you know about it and you get your head around the fact that eventually you will have to have a transplant, actually transplants are very common the only reason they’re not as common as perhaps they should be is, there’s not enough people on the waiting list sorry there’s too many people on the waiting list, not enough organs but actually it’s quite a routine operation now and most surgeons I think that do transplant surgery treat it as quite a routine they do it every single day sometimes twice a day so it is a routine operation. so really I wouldn’t say it’s major Alports isn’t, it hasn’t really, it hasn’t ruined my life by any means it’s there are worst things you can have and it’s just making sure that you know, I think know the right, that you get the right amount of information from people from the right people and that you stay positive and do whatever you can to help yourself, yeah.