Angela

Age at interview: 40

Age at diagnosis: 10

Brief Outline:

Angela was diagnosed with autosomal recessive Alport Syndrome. She received a kidney transplant after a year of home dialysis. During her dialysis period, she continued working full-time. At the present, her main focus is to stay healthy until her children grow up to be self-sufficient.

Background:

Angela works part-time at a legal counsel. She is married with 2 children, aged 3 and 6. Ethnicity: White British.

More about me...

Angela was diagnosed with ‘atypical’ Alport Syndrome at the age of 10 through a biopsy. Due to the lack of understanding of Alport Syndrome at the time, Angela thought that women were only ‘carriers’, therefore she was safe. She remained symptom-free until her early 20s, but developed kidney failure when she was in her late 20s, which is when the doctors specified her diagnosis as autosomal recessive Alport Syndrome. 

On reflection Angela feels that getting a transplant allowed her to “have children and carry on”. The doctors didn’t give Angela much information on her failing kidneys. In retrospect, she suspects it was because the doctors had to weigh up how much information was helpful for her at that point. Angela thinks that if she found out earlier that her kidneys were going to fail, she might have put off having children. She also feels that in some ways “it was better not to know […] rather than have [the prognosis] hanging over you”. She thinks that her family, including her sister who also has Alport Syndrome, have always approached the diagnosis with a ‘get on with it’ attitude, which she fully endorses. 

Angela started dialysis in her late 20s. Her husband was going to be her kidney donor, but the operation was cancelled because of a possible complication the doctors discovered at the last minute. She was on home dialysis for a year until she received a transplant from a cadaveric donor. During this time, she feels that her husband provided her with the support she needed to be able to carry on as normally as possible. During her dialysis and transplant period, Angela kept working full-time at a legal firm where she was promoted as partner after her operation. Ironically, she found that her workplace was much more flexible about her health problems than about having children.

Angela and her husband decided to have children after they went through genetic testing. However, she feels medical knowledge on Alport Syndrome was rather rudimentary at the time, and the new findings on how the syndrome affects women didn’t factor in their decision. She is more inclined to have their children retested now that there is more research on preventive treatments. She will explain Alport Syndrome to her children once they are older. Until then, Angela’s main concern is to stay healthy. She focuses on balancing working part-time, raising her children, and attending all her hospital appointments.

Angela describes being diagnosed with Alport Syndrome but feeling confused when her kidneys started to fail.

When I was young, as in sort of like below 10, then they noticed I had increased blood and protein in my urine, and my sister did as well. So we referred - we live in [place name], and we were referred to the children's hospital. And there was a doctor there called [name], who's now retired but was then very good on kidneys and Alports, who did a kidney biopsy on me and my sister to try and work out what it was, and decided that it was Alports that was slightly atypical. But he didn't really - I mean, this was in 1985, so it was quite a long time ago. Nothing then really happened for years. We had regular tests every, of our urine and blood every year roughly, and there was no problems at all. I moved down to [place] in - about like sixteen years ago, to move in with my boyfriend. And then I changed hospitals from [place] to [hospital name]. And when I got there they started initially kind of saying things like - you know - blood pressure tablets. And I was a bit sort of slightly confused at the time as to why suddenly it changed. And then eventually worked out at varying appointments that the reason was because my creatinine, which is your kidney function level test, was getting worse and worse, so they could tell my kidneys were starting to fail. And one of the biggest things they can do to control kidney function I'm told is keep your blood pressure low. But they didn't really explain any of that at the time. I just remember being slightly confused by it, because I'd always been told that I sort of had a kind of Alport syndrome, but as a woman you're just a carrier. Normally not affected, so I was slightly confused. But several years down the line from living in London, it became clear that my kidney function was going to decline to the point at which it would mean I'd need a transplant or dialysis. And so my husband was tested, and he was going to give me his kidney in a transplant. It was all approved and the theatre was booked in, and then about a week before the operation it got cancelled because they were doing a test to work out which kidney to take of his and he has apparently got slightly strange veins to his kidney. Which meant - which is quite unusual, and would be quite difficult to transplant. So I went on dialysis for a year. And then got a transplant on the donor list - cadaveric, a dead donor. Funnily enough, when my husband volunteered to donate and it was all going well, lots of other people were saying "Oh, I'll donate you a kidney." But when he turned out not to be suitable, they all went very quiet [laughing]. Which was quite amusing. Because some of them at the time I was thinking 'I don't really know you well enough that I'd feel that I could say yes anyway'. Including most memorably the head of IT where I was working. Which was slightly random. 

Angela says that check-ups are important even if they “find nothing’s wrong”.

Sometimes, even though it doesn't feel like anything's happening, you quite often go and you think 'well, what was the point of that?' Because I went into hospital, nothing really happened, I just spent the whole morning there, and I was supposed to be somewhere else - working, or with the kids or whatever. But I suppose over the years I've realised more that actually that is the time that they're focusing on you, and they're checking things are alright for you, even though you haven't seen anything yourself necessarily.

Also, you don't really want it to be exciting. I've been to hospital when it's either exciting - well, not exciting, but - you know - news, like “you can’t have a transplant”. You don't really want that kind of - it's much better four hours and find nothing's wrong.

Angela was slightly confused when her kidney function began to drop as she had been told she was just a carrier.

So - I didn't really think about it that much when I was a teenager. I suppose how much of this was my parents, what they were told, and so it was what they decided they were going to tell us, or what the doctor said, I don't completely know. But they just basically sort of - it was very much presented as then "You've got Alport syndrome, it doesn't usually affect women, but in boys you can have kidney failure and hearing problems, and so you'll need to think about it when you decide to have kids." But as it happened, I then had problems with my kidneys before I'd gotten to the point of thinking about children.

And when I got there they started initially kind of saying things like - you know - blood pressure tablets. And I was a bit sort of slightly confused at the time as to why suddenly it changed. And then eventually worked out at varying appointments that the reason was because my creatinine, which is your kidney function level test, was getting worse and worse, so they could tell my kidneys were starting to fail. And one of the biggest things they can do to control kidney function I'm told is keep your blood pressure low. But they didn't really explain any of that at the time. I just remember being slightly confused by it, because I'd always been told that I sort of had a kind of Alport syndrome, but as a woman you're just a carrier. Normally not affected, so I was slightly confused. But several years down the line from living in London, it became clear that my kidney function was going to decline to the point at which it would mean I'd need a transplant or dialysis. 

Angela describes her daughter’s understanding of her mum having Alport Syndrome.

And she'll come with me, and she'll just like, you know - I'll say to her like I said last week, you know "I'm going to have my eye checked." And she's just a bit like "Ah, that's - how is your eye, Mummy? Is your eye okay?" Because to her, it's just kind of like - I suppose it's just her norm, that Mum goes and gets things checked.

She's not quite old enough that she's now worked out, "Well, why does Mum and not Dad? Or not other people?"

I don't think she's quite at that point. Although she does know that - I said to her at one point that I was, you know, I'd had a new - I have told her that I had someone else's kidney, and she knows that I have tablets. [my son’s] too young. But they both know that the tablets, you know, are basically for Mummy, and they'll make Mummy better but they'll make other people ill. So, and people can't have them because it'll make them feel poorly.

So they both understand that. So she is actually, she's actually quite sweet and supportive.

Ah.

In a six year old way [laughing].

Angela recalls having a biopsy at the age of nine.

I was quite young. I was only 11. My sister's two years younger, so she would have been 9. Well, eighteen months. So 9, 10, depending on - I can't remember what time of year it was. We both went to the children's hospital. I don't remember it being particularly a big deal. Went to the children's hospital. We had a room for just the two of us, so I think we must have thought it was quite exciting [laughing] that we had a room with a TV. And we could watch what we wanted on the TV. And then they just took you into theatre and sedated you slightly and then did the biopsy. The only thing I remember at the time being disconcerted - 11 year old - is they tried to put a cannula in my hand. And for some reason it didn't go properly. And so blood started coming out. And I didn't really understand as an 11 year old what was going on. So I remember being slightly perturbed by that. But otherwise not that bothered. I've actually had a biopsy since my transplant as well, which was - nowadays, they're very like - especially if you're a transplant patient, they're very - done in a very low key way. I was actually just in the clinic just after I'd had my transplant and had potentially a bit of rejection. Which is not so much of an issue nowadays, they can manage it, and it didn't turn out to be a problem for me. But they just kind of stick you on a bed and then kind of like did the biopsy and that's it.

Angela remembers seeing her kidney function plotted on a graph and the line going downwards.

I think - well, I remember [laughing] going to one of my appointments at [hospital], and they had plotted my kidney function on a graph. And the line was kind of going like that, downwards. I thought, I was just thinking 'well that's not good' [laughing].

It was actually quite late in the stage that they actually kind of, that they actually tell you. I mean, there actually - there is a level below which they class you as being in kidney failure. I'm not sure when - I don't ever remember a moment when they turned round and said "You have kidney failure."

I suppose even when I knew I was having a transplant, when he was going to donate his kidney, I thought it was going to be a very - almost we could carry on, as before. It wasn't really going to affect anything, we'd just go in, have a transplant [laughing]. And then suddenly it was like "Oh no, you can't have a transplant." And I was like - that was probably the first time that I was sort of shocked. Well, I'd say there was actually - there was a period when I found out I was going to have kidney failure that I thought 'what does that mean?' I didn't know anything about it. And then when - it was almost like my husband was the solution. And that when that kind of fell through, I was then like 'oh'. And I hadn't really looked into dialysis, and really understood that very much. And it was very sort of "Well now, because we're going to transplant you, you're now at the point where you need dialysis. So you need to make decisions quite quickly about what you want to do. In terms of what dialysis you want. And we need to book you an appointment to have the equipment put in, and you're having CAPD we need a fistula, or." And so that was all a bit like a bit of a surprise. And a rush at the time.

Angela felt decisions about her dialysis were made very quickly and she didn’t really understand the implications of everything.

And I hadn't really looked into dialysis, and really understood that very much. And it was very sort of "Well now, because we're going to transplant you, you're now at the point where you need dialysis. So you need to make decisions quite quickly about what you want to do. In terms of what dialysis you want. And we need to book you an appointment to have the equipment put in, and you're having CAPD we need a fistula, or." And so that was all a bit like a bit of a surprise. And a rush at the time.

I think just because I hadn't really seen it going down that path before, I didn't really know what - I didn't actually really know what the implications were of everything. And despite the fact that I'm a lawyer and I ask lots of questions, I don't think I'd asked that many questions at hospital [laugh]. I think a lot of the time I always felt most people who work in the health profession want to help people, and regardless of the fact that you can't completely understand why they're doing things, they probably do have a reason, and that's probably one I've experienced… So you have to give them a bit of trust to get on with it. So I suppose I've largely been led by that, and - over the years. And sort of generally done what they advise. And that was happened with the dialysis, I think. I don't know, but she kind of said "Right, this is what we think you should do." And I just kind of like "Right okay, let's do that, then."

Angela remembers the alarm on her home dialysis machine going off and her husband ‘poking’ her.

Seems like quite a long time ago now. Like ten years plus, but. I think life to begin with, like everything, it was - everything new, it seems a bit scary and there's lots to do. I mean, it was just quite fiddly and complex in those days, certainly in terms of setting it up. And you had a like a tube that was in your stomach, and you had to like connect, and you had to be very, very scrupulous about cleanliness, because any germs would. And my husband mentioned the other day - we were talking about it, can't remember why - that he remembers because they used to have the, it was like basically a line that glucose came into your stomach and out, and it basically cleansed your blood that way rather than. I remember him saying that he didn't sleep much because, you know [laughing], it was like a, it was like a tube with like sort of liquid in it. And so if you rolled and lay on the tube, you'd obviously be stopping it working. So they had this alarm that went off. And he says he remembers in those days that he'd be woken up all the time by this alarm [laughing]. And he'd be like poking me.

[Laughing]

And have to roll over to get off it. I remember the fact that it was really, really annoying if you wanted to go to the loo in the night.

Because you had to like disconnect yourself. And then you had to reconnect yourself back up, and obviously by the time you'd kind of woken up, it wasn't like just. So I do remember thinking 'oh, I need the loo but I can't be bothered to go through all of that'. And then I do remember in the mornings, sometimes feeling a bit sick and unsettled.

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

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

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

Angela says that her new kidney took a while to settle in after some rejection.

Can you talk me through what happened with the transplant?

So, yeah. So then I had the transplant. And it was broadly, you know, fine. Uncomplicated. Went back to work seven weeks later. I had one episode of rejection. But I think I had in my head at the time that it rejected, was just like 'maybe it hasn't worked', and that was a big awful thing. But actually I think it was quite common, or it was then, to have a bit of rejection. And normally they just - tablets, they can treat it. It's normally about just basically - straight after having a transplant your immune system is lowered a lot more than it is now. So your body obviously gets used to it, and the kidney settles in. So it was just a case of, it was just a case of basically taking more tablets for a while. So it didn't - wasn't really problematic. And then you have to take more tablets afterwards. But then apart from that, I kind of - in my mind - was largely back to normal after that.

Angela talks about the different kinds of support she gets from her parents and her husband.

My family and my sister and my parents, yeah. They're probably the main people. In different ways, I think. From all of them. [My sister], she's the one who's a doctor, she's very sort of hands-on. She'll always be there if I need her to be there.

Is that your sister?

Yeah, my sister. And I remember at one point after I'd had one of the - every time I had the operations, like a general anaesthetic, I then puked a lot. And the first time I puked, like I remember [my sister] reading my hospital chart saying they've given you - I can't remember, something like gristine (?), or something. It was basically a, a cheap anti-sickness drug. Which they give everybody in the first instance. So the second time I had it, I remember saying I don't want that because I puked all the time, so I need to have basically - I think it was called Cyclizine, the next one up. And it's obviously the guidelines say give her the one which is cheaper and works with most people, but I knew that I wasn't, I wouldn't have if [my sister] wasn't - so she's sort of practical like that and has got the knowledge as well, but she's quite caring. And my Mum is very kind of nurturing and caring. And she like comes and makes me cups of tea and stuff. And, you know, cleans up and things. And my Dad's very practical. So they're quite a good pair. And [my husband], as I say, very practical in terms of - not practical in terms of making cups of tea [laughing], but practical in terms of getting on with things, and being positive. So I suppose he's probably like in terms of keeping the mental attitude.

Think that's probably slightly ingrained in me anyway because I think of mainly my Dad more than my Mum in terms of being positive and get on with things. But [my husband], is actually kind of more, more just kind of get your head down and carry on, but actually like "It's fine, just carry on and be happy about it."

Angela felt that she was treated much better during her second pregnancy when she was under the care of a specialist team.

The only thing I would say generally outside the hospital, something I mentioned to you, that when I had my first child I had - I was just treated generically. Which was probably more stressful. I much preferred the second time when I had a specialist team, who I was… to. I just saw the same person. They understood, they - you know - the person who was dealing with me looked into Alport because she hadn't dealt with it before. The doctor who dealt with it. And so you felt like they knew what they were talking about. Quite often doctors have not come across it. And have certainly - if you go to your average GP, probably at most they will know that it's some sort of genetic kidney condition. They might know, they might - I suspect they'll probably say it's some sort of genetic kidney condition, that you might have kidney failure and have hearing problems.

Angela says that how much knowledge you want probably depends on what kind of person you are.

It's that whole debate of how much knowledge is helpful, and how much isn't. And I think it probably largely depends on what kind of person you are, and how you feel about things.

It's a very individual thing, isn't it.

Yeah. As in like I know that I remember when my sister wanted to kind of drill down more into what's going to happen and why, and like basically know. And I'm probably slightly more on the side of just get on with it and see what happens, because - you know - I've always thought lots of awful things could happen to you anyway, and there's no point thinking about that all the time, otherwise it's a bit depressing [laughing].

So you have to kind of like deal with… point where I probably have - I generally think you have to deal with what comes up. I suppose the only thing - again, it's like that thing isn't it, there's things you can prevent. Which is why I think the new studies are interesting, because if it is true that ACE inhibitors protect your kidneys, and so that sort of preventative measure should then - actually, that made me - when I heard that - which was actually at Alports UK conference, not this year, the year before.

If something is worrying you, Angela says it’s important to persist and speak out.

Well I think probably for patients, I think probably that you have to deal with things in a way that works for you. You know, for me it was getting on with things, and trying to be as normal as possible. But I know that other people feel reassured by information, so. And also listening to your instincts a bit. Because there has been the odd occasion where I knew something wasn't quite right. So for example when I had the colitis. I knew when I was pregnant that there was something that wasn't just being - I'd been pregnant before, there was something that wasn't - and it was only because I sort of persisted, saying to the midwife "Actually like this isn't right."

They did something, and they kept trying - before that, they were giving me - and so I suppose both those things that enable you to - for the same thing, which is for the patient to know when to kind of press things. And don't feel bad about pressing them. Because if they're worrying you, they need pressing.