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Alison

Age at interview: 33
Age at diagnosis: 20
Brief Outline: Alison has X-linked Alport Syndrome and is the first person in her family to have it. Her kidney function declined in her 20s and she started dialysis when she was 27 years old. She had a transplant when she was 32 years old. She has no problems with her hearing or eyesight.
Background: Alison lives with her partner. She works full-time as an administrative assistant. White Scottish.

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Alison has X-linked Alport Syndrome. When she was 18 years old she went to her doctor about “something generic” and it was discovered that she had blood and protein in her urine. She was referred to her local hospital where she had a kidney biopsy. They discovered that Alison was in the early stages of kidney failure and diagnosed her with Alport Syndrome. Up until this point she felt very healthy and was therefore “one of the unlucky ones to just pick it up”. Nobody in her family has Alport Syndrome so it was spontaneous. She was told that as she was female she would lead a “normal healthy life” and so she thought “I’ll be fine”. At the time she was put on blood pressure medication although she admits to not taking it all the time. 

Over the years unfortunately Alison’s kidney function began to deteriorate and when she was 27 her GFR had dropped to 5. She was told she would need to go onto dialysis immediately. It was around this time that she had a genetic test which gave a definitive diagnosis of Alport Syndrome. Alison said this all “came out of the blue” and it was “a bit of a shock”. At the time she had two jobs, was socialising and going to the gym and felt that she was “managing fine”. 

Alison did peritoneal dialysis at home for three and half years. She started off by using a home dialysis machine and dialysing overnight. However, because of the “alarm noises” and being a light sleeper, Alison switched to manual bag exchanges four times daily. This allowed her to go on holiday and continue working full time. She says that she fitted the exchanges around her lifestyle and got “used to it”. However, she does remember being quite self-conscious about the exit site and tube, especially on holiday or with a new partner. She recalls being a bit more bloated as “you can expect to go up a dress size” with PD. 

Unfortunately, after being on PD for three years Alison was told that the dialysis was starting to fail. Her current partner decided to get checks to see if they were a match. A month into these checks, Alison got the call from the transplant waiting list to say they had a kidney for her. She said she had “mixed emotions” of relief, nervousness and excitement, as well as sorrow for the family who had just lost someone. After the operation she says that she didn’t allow herself to “think too far ahead” because she was “aware of what could go wrong”. 

She currently takes three different immunosuppressants, a steroid tablet and a tablet for indigestion. She says that she wasn’t told about the side effects of all the medication. Initially after the transplant, a side effect of one of the immunosuppressants was acute diarrhoea. A few months after the transplant she noticed she was getting a lot of hair loss. This affected her confidence. She found this “horrible” and did “miss her long hair” but also reflects that perhaps it is “a small price to pay for having a transplant”. She currently gets a sweat rash from her steroid medication.

Alison enjoys hill-walking, and so after her transplant she walked the West Highland Way with her partner. It took them five days and on the walk she promoted the work of NHS Organ Donation. She has also got into running “in a big way” as she talked to a man on an internet forum who was in his twenty-fifth year of a transplant who advised her to get into exercise to prolong her new kidney. She now runs up to 10K and is considering doing competitions. 

Alison wrote to her donor’s family recently. She describes this was “the most difficult thing I've ever had to do”. Alison feels she has gets a lot of support from her “great circle of friends and family”. She also finds it useful to go online and has joined the Kidney Patient Guide forum which she feels is great for support. She has also joined various Facebook groups like Alport Warriors. Alison likes to help others and gives talks to patients at her local hospital about dialysis and transplantation, as well as medical students. She feels she has found out most information through her own research and believes more information could be given directly to Alport Syndrome patients. 
 

Alison describes her shock when she was told she had renal failure and would have to start dialysis.

Alison describes her shock when she was told she had renal failure and would have to start dialysis.

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And so can you tell me what happened then after that, the sort of biopsy?

Yeah. So they didn't know for sure whether it was Alport syndrome, but they thought it probably was. And it wasn't until around about 2010 that they got the definitive diagnosis of Alports. So I was told information about that. And basically told that it's more severe in males, and that the males tend to develop renal failure in their twenties, and they can go blind and deaf. But females tend to live a normal healthy life, which is controlled by taking medication. So I wasn't worried about it at the time, thought I would have a normal life, and just take - you know - keep taking the medication and I'll be fine. But just over the years my, my kidney function's started to deteriorate. And then in sort of 2009 it was deteriorating faster, and I was seen more regularly at the renal clinic. So that was a pre-dialysis clinic. And then in- trying to think of the years. When I was around 27, my kidney function - the eGFR is what they, they measure to tell you how well your kidneys are functioning. It was dropping. And when I was around 27 it got as bad as five. And that's when the - it all came out of the blue. The consultant phoned me to say "We'd like to book you in for an operation next week, to have a catheter inserted into your abdomen, to start you on dialysis." So it was all a bit of a shock. Because I felt generally well in myself, I was still working full-time, I had a part-time job - I was working two jobs, saving a deposit for my first flat. And I was still going to the gym, and had a social life. So I felt I was managing fine. So it was, yeah, it was all quite a shock when they told me that I'd have to go into hospital the following week and be started on dialysis.
 

Alison feels the results of her genetics appointment were vague and that she doesn’t have a definite diagnosis.

Alison feels the results of her genetics appointment were vague and that she doesn’t have a definite diagnosis.

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I didn't have to do anything. I just went along and she spoke to me about - asked about family history, and I guess she looked at the kidney biopsy. 

So that - was it just then you then got a definitive diagnosis?

This was some time after that meeting with the genetics, yeah. There was tests that had to, that had to go to London for various testing. And that seemed to take forever.

So it wasn't until much later. Do you remember who sort of told you, or?

It was very vague. I actually had to ask the hospital, because it's been really vague in actually getting somebody's actually sitting down and saying. Like I think if I was to ask them just now, they would say they can't be a hundred percent certain it is Alports. So I've - nobody's actually said it's definitely Alports syndrome that you have.
 

Alison was told that females tend to live a normal healthy life, but she started to develop renal failure in her 20s.

Alison was told that females tend to live a normal healthy life, but she started to develop renal failure in her 20s.

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So they didn't know for sure whether it was Alport syndrome, but they thought it probably was. And it wasn't until around about 2010 that they got the definitive diagnosis of Alports. So I was told information about that. And basically told that it's more severe in males, and that the males tend to develop renal failure in their twenties, and they can go blind and deaf. But females tend to live a normal healthy life, which is controlled by taking medication. So I wasn't worried about it at the time, thought I would have a normal life, and just take - you know - keep taking the medication and I'll be fine. But just over the years my, my kidney function's started to deteriorate. And then in sort of 2009 it was deteriorating faster, and I was seen more regularly at the renal clinic. So that was a pre-dialysis clinic. And then in - trying to think of the years. When I was around 27, my kidney function - the eGFR is what they, they measure to tell you how well your kidneys are functioning. It was dropping. And when I was around 27 it got as bad as five. And that's when the - it all came out of the blue. The consultant phoned me to say "We'd like to book you in for an operation next week, to have a catheter inserted into your abdomen, to start you on dialysis." So it was all a bit of a shock. Because I felt generally well in myself, I was still working full-time, I had a part-time job - I was working two jobs, saving a deposit for my first flat. And I was still going to the gym, and had a social life. So I felt I was managing fine. So it was, yeah, it was all quite a shock when they told me that I'd have to go into hospital the following week and be started on dialysis.
 

Alison says she didn’t realise the implication of forgetting to take her blood pressure tablets when she was younger and sometimes wrongly took pain relief medication (NSAIDs) which is not advised for people with kidney disease.

Alison says she didn’t realise the implication of forgetting to take her blood pressure tablets when she was younger and sometimes wrongly took pain relief medication (NSAIDs) which is not advised for people with kidney disease.

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And can you say a little bit more about the medication that you took back then? You said you were quite bad about taking it, could you say a little bit more about it?

I think it was just with being, being younger, and not as responsible as I am now. I don't think I realised the damage that it could do if I didn't take it regularly. And perhaps maybe had I taken it regularly, I wouldn't have needed to start dialysis as early as I did. I don't think it was really explained to me either, how important it was to take the medication. I think if that had been stressed, then I probably would have got into the habit of taking it regularly. Another thing that frustrates me as well, is - might not have helped at all but, when I was younger, before I even knew of anything to do with Alports, I suffered from headaches from time to time. So I'd mentioned to my GP this, and we tried several things - keeping a food diary, that type of thing. But I'd mentioned to them that I take ibuprofen. And then for years I just continued to take ibuprofen, even once I had been diagnosed as having kidney problems. But I wasn't aware that the ibuprofen shouldn't be taken if you have any kidney problems. And it was on the GP records that I suffer from headaches, and I'd said on several occasions I take ibuprofen. So I wonder if that, you know, speeded up the, the kidney failure and that. 
 

Alison explains how her creatinine and eGFR levels changed after her transplant.

Alison explains how her creatinine and eGFR levels changed after her transplant.

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So creatinine is what they measure in your blood that determines how well your kidneys are functioning. So before I was called for the transplant, my creatinine was way up at one thousand two hundred. And now, just over a year after the transplant it's gone down to ninety. And it has been sitting around about ninety for about a year. And the overall kidney function, which is what they call eGFR, that had dropped to four, and now is sitting at over sixty, which is what they would see in a person without any kidney problems. Yeah. No, it's all good.
 

Alison explains what haemodialysis and peritoneal dialysis are and why PD worked best for her.

Alison explains what haemodialysis and peritoneal dialysis are and why PD worked best for her.

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So peritoneal dialysis allows the patient to be able to dialyse at home. Or wherever they want, as long as it's a clinical environment. The other option that I had was haemodialysis, where the patient has a fistula inserted in their arm and they have to go to hospital three times a week for four or five hours at a time. And they dialyse on a machine, which pumps the blood into the machine, cleanses the blood, and pumps it back into your body. And you're in a lot more of a restriction when you're on the haemodialysis, you've got fluid restriction. 

Whereas on peritoneal dialysis, you could drink as much as you wanted. Plus because I was able to do this at home, it allowed me to be able to still work full-time. Plus it - for going - you could still go on holiday when you were on dialysis, but if you were on haemodialysis you were limited to where you'd go. You'd have to go somewhere that had a hospital that would allow you go to in and dialyse. So, PD - the peritoneal - worked a lot better for me, because I could go anywhere. So it just meant a lot of organising between the hospital and your destination, to ensure all your supplies were there for your arrival. But going back to the explaining what it is. With peritoneal dialysis you have to dialyse four times a day every day. So you quickly got into a routine, and you dialysed in the morning before work. And that would take - takes about half an hour each time. And basically you have a bag of fluid which you would hang up onto a drip stand. And you connect the bag to your, your dialysis tube, which goes into your peritoneum. And you would drain that fluid into your peritoneum. And then you would leave it for minimum of two hours, maximum of eight. And then you would drain that out. And then once you've drained out, you drain another bag in. So you're repeating that process four times a day.
 

Alison talks about the side effects of her medication including hair loss and feeling more emotional.

Alison talks about the side effects of her medication including hair loss and feeling more emotional.

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No, I feel fine. I was quite lucky, I didn't get as many side effects as some people do. When I was in hospital they gave me seven A4 pieces of paper, so I think that was - there were seven different medications that had side effects that they were addressing. So you had to read about these side effects. And almost every single medication I was put on, one of the side effects mentioned was increased - being emotional. So I was just waiting for the day where I was gonna break down, and I could see in the ward, everybody had their day where they would just sit and cry. And, it's not happening to me. But it did. There was actually a day, it just - it hit me. You know, my boyfriend had came in and said how everybody was asking for me, and how there had been so much support on, on Facebook. Everybody's on Facebook these days, and I hadn't been on the internet. So he, he let me see it. And that's when it, it just kind of hit me. It's always when you see that there's so many people that care, that that's when it hits you [laugh]. Yeah.

When my hair started falling out, that was the one that I went straight onto social media about. And it was quite a relief to find out that I wasn't the only person that had happened to, and there were others out there that had gone through the same thing. And they hadn't had it explained to them that this medication, you know, this is a side effect. Because I remember telling, speaking to my GP about it, "My hair's falling out all of a sudden." And him saying "Oh yeah, that is a side effect." Well, it would have been nice to have been made aware of that, so it wasn't such a shock when it happened. It was just one day in the shower, just chunks of it all coming out. This isn't normal [laugh].
 

Alison describes how she felt getting a transplant.

Alison describes how she felt getting a transplant.

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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.
 

Alison prepared a work folder for her colleagues before she had her transplant.

Alison prepared a work folder for her colleagues before she had her transplant.

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Can you explain a bit more about sort of work, and how you managed?

Yeah, so. We did try before the, that I got - before I got the call, to sort of manage my workload in the event that I got a call to go for a transplant. So I had made up a sort of, a folder of 'this is what I do, this is where you can find this', and that sort of thing, so they'd be prepared. They say once you have the transplant, you could look to being off work for two to three months. So I was fine to go back after the two months. To be honest, I felt like I could have gone back a lot sooner, but - you know - it's best just to, to try and relax and take it easy and recover at home. But they're, they're really supportive. And I guess it helps that my workplace is based on a hospital site, so I'm literally five minutes away from the renal unit. So yeah, they're - they're really supportive. And being a [workplace unit], it's - you know - they're, they support it a hundred percent.
 

Alison used to be self-conscious about the dialysis tube in her stomach but says her partner has been very understanding.

Alison used to be self-conscious about the dialysis tube in her stomach but says her partner has been very understanding.

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It was - you're quite self-conscious. I was single when I started on dialysis, so you're always self-conscious of your body when you have this tube that comes out, it's not normal. And, but he's been absolutely perfect, and really understands everything. I maybe didn't so much go into Alport syndrome but I maybe explained more about the dialysis and how that works. But one thing we have spoke about is how Alport Syndrome is hereditary. So there's gonna be a day when we're gonna want to have children. And that's something that slightly worries me, because there's a fifty-fifty chance that I could pass this on to, if I have any sons, then I could pass it on to them. And then it's more serious in males, so that's something else that does worry me. Whereas I do know and hope, because I have coped so well with it, that they will too. But then I've not had the, the addition of the loss of hearing and eyesight, so.
 

Alison enjoyed being able to walk the West Highland Way after her transplant.

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Alison enjoyed being able to walk the West Highland Way after her transplant.

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I quite enjoy going hill-walking. So, being in this part of Scotland is quite convenient. One thing that I always wanted to do was walk the West Highland Way. Which is ninety six miles from Milngavie in the, near Glasgow. To Fort William. So after the transplant I thought 'right, I'm gonna do it'. And my partner and I did it in October. And I thought 'what can I do? I don't want to raise money for charity, because I just feel there's a lot of people doing that at the moment and people are continually being asked for money.' So I thought I would try and promote organ donation. So I contacted Organ Donation and got a couple of t-shirts, some balloons, and some leaflets to hand out to fellow walkers on the way, and to leave at B&Bs that we stayed on, on the way. So, yeah it was really good, and we were really lucky with the weather as well, so it was beautiful sunshine, so. I think that made a big difference. Had it been raining the whole time it wouldn't be so much fun [laugh].
 

After starting dialysis Alison didn’t follow the dietitian’s advice about a new diet because she didn’t realise how important it would be.

After starting dialysis Alison didn’t follow the dietitian’s advice about a new diet because she didn’t realise how important it would be.

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But when you were on dialysis, you were on a restricted diet, like your potassium, need to watch your potassium intake, and. Which to be honest, I wasn't too good at. It was [laugh], yeah.

Yeah, can you explain a little bit more about that? What were the recommendations, and how did you find that?

So, yeah. Cut back on cheese and chocolate. No bananas, mushrooms. Potatoes. So if you were making potatoes, you'd be like - or if you, if you were - or baked potatoes, yeah. Cut back on baked potatoes. Because I love baked potatoes. But you're best to boil them, and then get rid of - parboil them, get rid of the water, and then boil them again. But I was… not really following the advice that the dietician gave me.

So you didn't follow it at all, or?

No, not really. No [laughing].

Was it because that was - it was so restrictive, or? How did you -

Again, like being told about the medication and how important, it was never really explained to me how important it is that you, you know. You could probably, I might have had a longer time before starting dialysis had I realised how important diet restrictions were. 
 

Alison contributes her experiences of Alport Syndrome to a special online forum for support and information and finds it incredibly helpful.

Alison contributes her experiences of Alport Syndrome to a special online forum for support and information and finds it incredibly helpful.

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And you mentioned about your support, having a really good network of family, and sort of friends, and you think that's the main - do you feel like you can sort of talk - do you talk with them about your sort of emotions, and?

To a certain extent. But there was a lot of things that they just wouldn't understand. So what I tend to do is I've joined a forum. Which I log onto, and it's for people worldwide, and go in, and you can search for a topic and see what other people have said about it. I've also met - or not met in person, but there was somebody who added me on Facebook who had read about me on the forum, and she also has Alports. So she got in touch with me to see how I managed, just to find out when I was diagnosed, and - so, she's not started dialysis yet, but they have said to her that it's on the cards, so. So yeah, it would be - it's, so yeah, there are certain things that you can't really discuss with friends and family. Or you could, but you want to know how other people's - other people are coping with it, but. You know, so I tend to go onto the forum for that. 

And how do you feel? Do you feel like you're helping other people then, by doing that? And because you'd been supported, and? 

Yeah. I was able to write a huge paragraph on everything about it all, you know, and how - how, how old I was when I was diagnosed, and whatnot. And she was concerned about going on holiday, because her husband I think was from [place], and would she still be able to go and visit his family? So I was able to, you know, reassure her. And she did say, you know, "Thanks, it's been really good, and helped a lot." So yeah. It's good to be able to help other people. I've also given talks over at the hospital on pre, pre-dialysis talks to - you know - patients who are coming up to the stage where they're gonna be put on dialysis. And I've done an actual exchange in front of them, so they can see what, what happens when they do that.

Yeah, do you feel that - is that something quite important for you to connect with other people who -

Definitely, yeah. Because you, you might know that you're going to see your GP, your renal consultant next week, but there might be something playing on your mind and you think well, I just want some reassurance that other people have gone through that as well, or had these symptoms, and that it's nothing to be worried about.

Yeah, do you sort of ask questions about symptoms? What sort of things have you talked with other people about on social media?

When my hair started falling out, that was the one that I went straight onto social media about. And it was quite a relief to find out that I wasn't the only person that had happened to, and there were others out there that had gone through the same thing. And they hadn't had it explained to them that this medication, you know, this is a side effect. Because I remember telling, speaking to my GP about it, "My hair's falling out all of a sudden." And him saying "Oh yeah, that is a side effect." Well, it would have been nice to have been made aware of that, so it wasn't such a shock when it happened. It was just one day in the shower, just chunks of it all coming out. This isn't normal [laugh].
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