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Karen

Age at interview: 42
Age at diagnosis: 33
Brief Outline: Karen was diagnosed with X-linked Alport Syndrome. Despite her being labelled a ‘carrier’ she developed kidney failure aged 39. She is on haemodialysis three times a week and is on the waiting list for kidney transplantation. For Karen, the diagnosis of Alport Syndrome didn’t make much difference as she already strongly suspected it was Alport Syndrome. Her main concern is the management of her kidney disease and also raising awareness about being a female ‘carrier’.
Background: Karen is 42 years old. She is married and lives with her partner. Ethnicity: White British.

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Karen was tested for kidney disease as a child, but she didn’t have any symptoms until the age of 24 when she fell ill with pancreatitis and developed stage 4 renal failure. Her kidney levels remained at the same level but at 39 she developed full kidney failure and had to go on dialysis. 

Karen took part in genetic counselling at the age of 33 in 2007 and was diagnosed with X-linked Alport Syndrome. Although her family members were never tested, they have always suspected that their kidney and hearing conditions were linked to Alport Syndrome. Karen feels that the diagnosis didn’t make much difference to her as she already strongly suspected it was Alport Syndrome, and she is glad she didn’t find out about it earlier. 

Alport Syndrome has affected Karen’s hearing as well, but her main concern is the management of her kidney disease, which Karen feels it affects all aspects of her life. Initially, she was put on peritoneal home dialysis, but as her condition didn’t improve, she had to go on haemodialysis. She had to adjust her social life around her dialysis schedule which requires her to go to the hospital three times a week for three and a half hours. She is further restricted by the fatigue she feels after each dialysis session. She also has had cognitive behavioural therapy (CBT) to manage her needle phobia. She has had 5 dialysis-related operations in the past 18 months, and she has another one scheduled because she developed carpal tunnel syndrome in her fistula arm. A fistula is a special blood vessel surgically created to connect an artery to a vein for haemodialysis. 

Karen is on the waiting list for kidney transplantation, so she needs to stay within an hour of the hospital in case there is a transplant available. Karen doesn’t think that transplantation is a cure for her kidney disease, and she is aware of all the pitfalls of such an operation. Nonetheless, she feels that a transplant would free her from her tight dialysis schedule and she could resume a normal life. While she is waiting, she is concentrating on keeping herself healthy for the transplantation by monitoring her health, and keeping any possible infection under control.

Generally, Karen feels somewhat satisfied with the care she has received so far, especially since she moved to a smaller hospital unit for her dialysis where the nurses “know her veins”. She believes that a good health professional is someone who listens because it is the patient who has the best knowledge of their own bodies. Karen does her own research on the internet, and she is ready to question doctors about any kind of medical issue.

Karen’s message to other people with Alport Syndrome is that there are always ways of dealing with the disease and the wait for the kidney failure shouldn’t take over people’s lives. Similarly, she strongly believes that health professionals need to expand their knowledge on female X-linked Alport Syndrome and not just treat them merely as ‘carriers’.
 

Karen explains how kidney disease was in the family and how it was suspected that Alport Syndrome was in the family.

Karen explains how kidney disease was in the family and how it was suspected that Alport Syndrome was in the family.

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Yeah when I was five years old I got tested for kidney disease, because there's kidney disease in the family. And we moved GPs at that point so the letter got lost. So, at twenty one I went for a medical for a job and they found blood in my urine. Asked me whether there was any history of kidney problems in the family, so I said yeah I did get tested when, you know when I was really young, and they checked back through my records and there was a letter there saying that I had got kidney disease and I should have been monitored by the kidney clinic from the age I'd had the test. So, I kind of…for sixteen years I was oblivious to the fact that I had kidney problems which was good you know. And then I got referred to the hospital, but to be honest I didn’t take it up because I didn’t feel any - , there was anything wrong with me or anything like that. So, then I, at twenty four, I moved to [place] and I got pancreatitis, and returned back to [place] where I was living and ended up in hospital, and it basically made my kidneys fail because I was so ill with the pancreatitis, and obviously I'd got this pre-existing condition. So, at twenty four my GFR, which is your kidney percentage, was twenty four. It's never gone above twenty four since I was twenty four. So, from then on I was then monitored at the kidney clinic kind of, you know regularly. Had various other things happen like colitis and, you know kidney infections – urine infections, things like that; it all led to it being sped up. 

We'd heard Alports in the family you know but nobody had ever had genetic testing. 

I went to the genetics department at [place]; had genetic counselling and all that kind of thing and then they sent off the blood test to [hospital] and it came back that I had got Alports. So, kind of my Alports was the first that I know of properly, genetically tested, diagnosed Alports. So I don’t know how people know that it was Alports but they did. It was always said in the family that all the kidney problems were Alports. So, obviously I was a carrier; it came from my dad, it came from my grandma to him. So, because I'm female and it's X-linked to Alports I had no chance of not getting it. My brother's not got it because the boys don’t get it on the X-linked Alports from the man. So it's just me in, in our side and my uncle's got it as well. So, he's already had a transplant; back on the transplant list now and my kidneys have now failed. They failed in December 2013 due to the fact that I was made redundant and it was just a massively stressful time. So, in 2013 went for my normal regular check-up to be told, "Ooh your kidney function's dropped." So, from the age of twenty four to kind of thirty nine I managed to stay kind of, you know a certain level and then with that massive stress and I think any kind of life stress would have done it, they failed. So, in December I was put forward for dialysis and in the February I was put on a transplant list after, you know all the kind of testing and everything; then the meetings with the consultants. And in the March I went on dialysis – home dialysis – so I'm one of the kind of low percentage of females that actually fully develops the kidney failure.
 

Karen feels strongly that the label ‘carrier’ needs to be changed.

Karen feels strongly that the label ‘carrier’ needs to be changed.

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I think the biggest thing for me that I found is the lack of knowledge in terms of female with X-port, X-linked. The fact that they just think that we're carriers and, you know there is one in three basically chance that you are not just a carrier; you're actually going to develop the kidney failure, and to try and get that across to doctors is, is hard it really is. They just think that women are carriers; they’ve got this thing in their mind – it's just carriers and that’s it, the women don’t develop anything, they just pass it on and it's not like that at all. It's not, it's certainly not like that in my family. You know it's actually turned slightly in our family whereas the men are developing it later than the women, you know so it's not going to be the same for all X-linked. Just because you’ve got X-linked Alports doesn’t mean that your family Alports is the same as another family's Alports you know, and I think doctors need to be aware that they need to be following up with the women and not just treating them as carriers because it's not the case that they're just carriers you know. 

Well that’s what the, the consultant from [place] was saying; you know you wouldn’t call them carriers because it's just not a carrier issue. And I think that word carrier it just makes it sound like they just pass it on and that’s all, you know they just pass on the genes and, and that’s it and it's not the case, it's certainly not the case. You know Alports women are developing kidney disease; there's two of them in my family alone you know. So, it needs to be, yeah it needs to be changed, they don’t need to use the carrier word in it. If you’ve got Alports you’ve got Alports you know. Whether you, they think you're a carrier or not you’ve literally got Alports and you, you’ve got the issues in your kidneys already. So, you know it's not a carrier situation is it you know.
 

Karen says that her cousin like her has developed serious kidney disease.

Karen says that her cousin like her has developed serious kidney disease.

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Yes I've had that from consultants at the hospital. Letters saying, 'You're just a carrier; your kidney disease must be due to something else.’ But it's not. I think it's about thirty four percent of women develop it. I've just developed it younger than most women. But my, I've got a female cousin who's also developed it as well. So, I don’t know whether it's a particular thing in our family or, you know because it tends to pass to the males rather than, cos there's a lot of females in our family. There's females that are carriers and there are females that, are two of us that have developed the serious kidney disease yeah.
 

Karen was put on blood pressure medication which she says delayed her kidney failure.

Karen was put on blood pressure medication which she says delayed her kidney failure.

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I was thirty nine. Well twenty four they started failing when I had the pancreatitis, but I was always between kind of nine G, the GFR of nineteen to twenty two, around that level. At that time I was actually put on high blood pressure tablets and after the information day, obviously now I know that that was the best possible thing that they could have done for me because they're the ones that prolong, you know the kidney. So, I think that is probably why I went those kind of eighteen years staying at a similar level. I think if I hadn’t have gone on the blood pressure tablets it probably would have collapsed a lot sooner.

So, when were you put on those tablets?

Almost immediately because my blood pressure was really high because of, you know because of all the, the kidney issues and they liked to keep it under a hundred and twenty over seventy I think it is for kidney patients. So, I was put on them immediately when they failed. So that kind of, listening to the consultant at the information day, that kind of explains why I went so long really you know, with that kind of function and not having to go on dialysis. So, I was quite lucky cos they didn’t have any knowledge of that then that I just happened to be put on the right type of blood pressure tablets.

And do you feel they worked then; did you feel different, was it?

Well obviously it reduced my blood pressure and it kept that down, cos if, if your blood pressure goes over that kind of level it's going to affect your kidneys. So, by keeping my blood pressure down and level it obviously prolonged the life of my kidneys, and delayed me, you know my failure.
 

Karen says even though she knew her kidneys would fail, she still felt gobsmacked when it happened.

Karen says even though she knew her kidneys would fail, she still felt gobsmacked when it happened.

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Yeah it's quite a short space of time as well so. But I did have that advanced notice that it would happen eventually. You know from being twenty four I knew eventually my kidneys would fail, but because they'd been so steady for kind of eighteen years in effect, that when I went on the, in the December 2013 and was told that they'd dropped, I was really kind of gobsmacked, and it took me quite a long time to recover from that information because I just expected them to say, "Oh you're still at twenty or eighteen or whatever, you know just carry on doing what you're doing," and that’s it. And when I went in and they said, looked at my blood results and went, "Oh," you know, "they're failing," and within -. It had reduced to be fair for those eighteen years I was in a bit of a no man's land because I couldn’t go on the transplant list or get any kind of treatment in terms of dialysis, but I still felt rotten because my kidneys were so, so low you know. It dropped to, it dropped to fourteen which meant I could trigger onto the transplant list but then once it went to fourteen it just dropped really fast. So, that’s why kind of three months later I was on dialysis so.
 

Karen describes some of the side effects she gets from dialysis.

Karen describes some of the side effects she gets from dialysis.

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It's a pain in the bum basically; it really is a pain. I basically lose three days out of my week because after dialysis I feel terrible. My blood pressure drops really badly while I'm on dialysis. So, I'll go in at say a hundred and fifty over eighty, and I'll come off at hundred over thirty, so it's a massive drop in my blood pressure. And for the first maybe three months I was continually dizzy all the time. But now the dizziness has reduced slightly but I still feel really rotten even though I sleep; I tend to not get a lot of sleep the night before obviously cos you're thinking about getting up early aren't you, because I'm on the first shift which starts at half past seven. So, I have to get up at ten past six to put my cream on, my anaesthetic cream on my arm, [coughs] and then the taxi fetches me at seven. So, you don’t get much sleep before. I do tend to have a couple of hours at dialysis if I can; I tend to sleep through it cos it's just so long [laughs].

Can you do that then?

Yeah

You can go to sleep?

I put my earplugs in now [laughs]. I wasn’t using earplugs but I do use earplugs now, and I'm going to take a sleep mask as well from now on, so I can get the fall asleep effect. Yeah you can sleep through it. So and there's TVs and things like that but it -, you get quite cold lying there for three and a half hours so, you know lots of blankets, heat pad, everything, and obviously you can't move your arm which is quite uncomfortable. I tend to get quite a stiff hand because of it you know; I keep having to move my hand but obviously when I fell asleep I don’t. So yeah and you're not allowed to kind of carry anything on that side cos it might affect the fistula, and because my fistula's grown so much I've now got carpal tunnel syndrome. So, it's now, because it's spread out it's actually trapped the nerves so I've been referred now for that as well. So, it's kind of, you get lots of side-effects from kidney failure that people don’t realise. They think, 'Oh it's just dialysis three times a week,' but in effect it's, there's lots of side-effects. You know like I've got renal bone disease so I get a lot of bone pain. You know I wouldn’t have got that if I hadn’t got kidney failure; you know there's lots and lots of things that I've -. A parathyroid issue which are, there's kind of four or five of them in your neck and they control your calcium levels. So, because the parathyroid's so high that creates more bone pains so you have to take extra calcium to try and control those, so you just end up on lots and lots of medication because of it as well. So, it's not just the fact that you’ve got to go to dialysis three times a week; you’ve actually got to manage the condition all the rest of the time as well.
 

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.

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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.
 

Karen says that, although it is a serious condition, there are ways of dealing with it and getting treatment.

Karen says that, although it is a serious condition, there are ways of dealing with it and getting treatment.

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Or if you want to summarise anything or say what would be the message that you'd give people?

I think, yeah it's a serious disease but I think there's, there's way of dealing with it you know. Even when you get to kidney failure stage you know, there's always dialysis and transplant as treatments and I think, you know, it's important to know what your kidney disease is caused by but it shouldn’t rule your life until you actually get that failure. I think, for the young people that are being diagnosed, maybe they should just try and forget about it. I know that’s hard - , harder you know done and said, but to put it to the back of their mind and just try and live as much as they can while they're, you know they're still healthy and try and keep themselves healthy.

You know I mean I managed after my kidneys failing for eighteen years at the same level so, it's not, it doesn’t mean once you’ve failed that’s it, you know you're on dialysis – you can live in failure for years and years and years you know. So yeah I think that’s it really.
 

Karen feels that doctors need to follow up women with X-linked Alport Syndrome and not just treat them as ‘carriers’.

Karen feels that doctors need to follow up women with X-linked Alport Syndrome and not just treat them as ‘carriers’.

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And would you give any messages to healthcare professional – doctors, nurses?

I think the biggest thing for me that I found is the lack of knowledge in terms of female with X-port, X-linked. The fact that they just think that we're carriers and, you know there is one in three basically chance that you are not just a carrier; you're actually going to develop the kidney failure, and to try and get that across to doctors is, is hard it really is. They just think that women are carriers; they’ve got this thing in their mind – it's just carriers and that’s it, the women don’t develop anything, they just pass it on and it's not like that at all. It's not, it's certainly not like that in my family. You know it's actually turned slightly in our family whereas the men are developing it later than the women, you know so it's not going to be the same for all X-linked. Just because you’ve got X-linked Alports doesn’t mean that your family Alports is the same as another family's Alports you know, and I think doctors need to be aware that they need to be following up with the women and not just treating them as carriers because it's not the case that they're just carriers you know.
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