People said that before getting a diagnosis of Alport Syndrome signs and symptoms such as blood or protein in their urine, often led to a referral for further testing and checks, such as a kidney biopsy or ultrasound and genetic testing.
For those already diagnosed, the frequency of routine appointments was often annually or six-monthly. These usually happened at a hospital, occasionally at a specific ‘Alport clinic’ in an adult or children’s nephrology department. For children and teens, paediatric appointments were often every 3 or 6 months. However, people said the frequency changed over time, with hospital appointments becoming more or less regular depending on their results and health. Jayne mentioned getting discharged as she had no symptoms and was told to get in touch only if she had any problems. Lucy said that despite being discharged with no symptoms, she asked to maintain her annual appointments. Blood tests and a urine or ‘dipstick test’ were the most frequent procedures at check-ups or annual reviews. People also mentioned having their blood pressure, weight and height checked. They did not always get told the results but assumed everything was fine if they did not hear from the consultant.
Amanda talks about the frequency of appointments for her son and how she would like to discuss ‘current’ test results.
Amanda talks about the frequency of appointments for her son and how she would like to discuss ‘current’ test results.
Age at interview: 39
Sex: Female
Age at diagnosis: 33
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Well, it can change. It just depends what's going on. If the protein levels are - or if he's needing an increase to his medication, you tend to find they don't leave it six months. What they'll do is they'll bring him in like three months, and then obviously if there's something going on in his blood count or his, his urine sample that they think 'yeah, we'll get you back', and it's really their decision when how often that he goes. But there has been stages that he was there every three months, and then they said "Right, things are looking good, we'll move you back to six months again." So it just, it differs. It differs. So it's roughly about twice a year, I think, that he gets bloods taken.
After diagnosis Lucy describes her hospital appointments, and transition to a different hospital.
After diagnosis Lucy describes her hospital appointments, and transition to a different hospital.
Age at interview: 38
Sex: Female
Age at diagnosis: 8
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And I was off the antibiotics by then as far as I can remember. But then I was followed up fairly regularly, pretty, pretty frequently at [hospital name] hospital by the paedia -, paediatrician there with hearing tests and paediatric appointments, and I think probably several times a year initially and then it was cut back eventually to annually. And I stayed -, I was looked after by the paediatric department for a little bit longer than usual just because it was convenient I think, and then I was transferred to [hospital] care for routine follow-up again and that probably was when I was about sixteen I should think.
OK
And the care at that stage did change. I do remember going -, I think my mum came with me to the first appointment at [the hospital], and having been talked to by a very nice doctor at [the hospital] who had kind of, you know told us that the situation was that I was a carrier of Alports; that there was never anything to worry about. There was -, I think the doctor at [the hospital] that made some statement along the lines of, "You -, there is no reason why you couldn’t go plenty more years before your kidneys start to failure." Certainly that was the interpretation that we, we got from it. I don’t think she quite said that, and I'm certain obviously she certainly didn’t mean it, but that was certainly -, there was a little bit of worry induced by that, and I remember my mum particularly being a little bit annoyed about that because she was sort of saying, "Well what's -, you know what's all this, this is the first we've heard of there actually potentially being any kind of problem at all?" And they -, the particular problem still, as far as I'm aware. As far as my care is concerned I don’t have regular hearing tests anymore unless I ask for them. I do have annual follow-up at [the hospital], and they did actually discharge me for a bit and then I asked to be just looked after again just to keep an eye on me, and as much for the sake of my children just to kind of maintain a contact at [the hospital] as well, although the children are looked after separately. So I am still followed up annually at [the hospital] with bloods and urine tests and hypertension care of course as well because I gather that is probably linked to the Alports; I do have hypertension and that’s managed by my GP, but overseen by [the hospital].
People mentioned that their care sometimes changed when moving hospitals or clinics (for example from paediatric to adult nephrology). For Michelle, her daughter had moved to adult nephrology where she felt there was a lack of knowledge on Alport Syndrome, so she maintained links with her daughter’s old paediatric department where her son received care. Some people with other family members with Alport Syndrome compared their care to their relatives. For Kevin this was helpful when he had missed a few annual appointments and his brother’s health deteriorated – prompting him to re-attend his clinic.
Michelle talks about her daughter’s experience of going to the adult nephrology department.
Michelle talks about her daughter’s experience of going to the adult nephrology department.
Age at interview: 47
Sex: Female
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Well, apart from every time we go to [the hospital] she sees a different consultant that hasn't got a clue about anything. It's fine. At the moment it's okay, because I've still got that link with the nephrology at [the hospital]. When [my son]'s an adult and moves presumably to [the hospital], I don't know what - because they don't really have an awful lot of knowledge. They - all they know is they can't sign her off. Because she surprised [laugh] - one of the questions she has asked once, "Well, why don't they sign me off? All they do - I have to do, go with a urine sample, have to have my blood tests, three pots of blood, before - a month before I go, so they can check. They do my blood. I do a urine sample. And they do my blood pressure. And that's it. And they always say well we'll see you again in another year. If they're not going to do anything, why don't they just sign me off?" And I said "Because they have to keep checking that it is all still plodding along in the right way."
And I guess it must be a relief though, hearing that everything is -
Oh yeah, absolutely. Yeah. Although they were really good, because her bloods had dropped, and she had a lot of trouble with her white blood cells. And they actually gave her some blood. She went in and they gave her a couple of pints of blood, to boost. Because obviously she was losing blood, as well, through her periods all the time.
And that's quite the nice thing actually, that - you know - although she said "What's the point? Just discharge me and take me off the books" Sort of thing. But actually it's quite nice going and having the blood tests, knowing that microscopically - and absolutely microscopically - your kidney function has dropped really, really microscopically, you wouldn't know, but that it's still okay.
So we know that it is having an effect, but it's so microscopic - so small - that it's nothing to worry about. But someone is checking that each year, to make sure that it doesn't suddenly become a problem with the kidney function.
Debra says that although she moved, she prefers to keep attending appointments at her old hospital.
Debra says that although she moved, she prefers to keep attending appointments at her old hospital.
Age at interview: 33
Sex: Female
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It's once - so it's once a year. Obviously I used to attend the hospital in [place] and saw the sort of same team of doctors there.
And then when I relocated to London, we used - where we used to live was actually right next to [university], which was just lucky [laughs] that we were next to such a good hospital. So I started attending the renal clinic there. And actually I still go, because I really like the consultant there, and I don't really want to change out here.
And it's easy for me to get there.
Oh, so you go still back there every year?
Yeah. Oh I just get the train straight there, it's easy. So, and I said to them like "Please don't make me move hospital" [laughs]. And they were like "Well as long as you're okay with it, it's fine."
Oh, that's good.
So they're a really, really good team there as well. But the appointment, I mean, it's pretty basic. You know, it's a urine sample, a blood test, check your weight, have a chat about how things are.
People described their appointments and feelings about them in different ways. They were described as “pretty routine”, a “bit of an inconvenience”, “slightly annoying” to “normality”, “no big deal” and a “day out”. Lucy said that she went to her appointments with questions she wanted to ask her consultant. Often appointments required time off (usually a day) from work or school. Some younger people enjoyed the opportunity for a shopping trip while others found missing school difficult. Michelle said she got her son’s appointment only two weeks in advance and this made it very difficult getting time off school, so she often had to try and get appointments in the holidays. Several people said that although their appointments appeared to be ‘pointless’ as their results were very stable or they had few symptoms, they acknowledged the importance of still attending. Katie and Sarah felt they were being taken “seriously” and said that although Alport Syndrome didn’t affect them right now, it could in the future. At the same time, some people dropped off attending appointments for a period of time. For Richard Y, “life took over”.
Jayne talks about feeling like she was “taking up” an appointment when she doesn’t have any symptoms.
Jayne talks about feeling like she was “taking up” an appointment when she doesn’t have any symptoms.
Age at interview: 40
Sex: Female
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Well I remember thinking, 'I'm a bit of a fraud and I were taking up like an appointment that somebody else probably could be, you know, using'. Because I felt fine and I've never had any symptoms. And I do remember saying to the consultant once, "Is there any need for me to keep coming, because I just feel like I'm taking up your time?" And he did actually say, "No". Because if anything did happen and I suddenly became ill, because I go to the hospital every year like, my work colleagues and everything know that I go to the hospital, it would if, it would spark somebody's memory and think 'oh, maybe she's ill because of her kidneys'. But he said if I never went, then people would forget, and it would not be brought to their attention. So they did. And I'm sort of glad that they did keep me going now, because it was that that sort of, kidneys was in my, you know, my mind when my little boy went deaf, sort of thing. So it was right to do that, really. Yeah.
Michelle talks about her children’s annual review check-up and feeling pleased that there’s been no changes.
Michelle talks about her children’s annual review check-up and feeling pleased that there’s been no changes.
Age at interview: 47
Sex: Female
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How did you feel about the information that she [the nephrologist] gave you? And what did you think about the care, and things like that?
They're lovely. But you always feel - you know, it's a long trip up there. And they often have a scan, they'll have a blood test, you'll be in with the consultant for about ten minutes, if that. They check the blood pressure. Nothing else to tell. And you kind of feel 'I've come all this way and we've been waiting an hour to see you, and there's nothing else to tell me.' Which in a way is good, there's no changes to their health, and everything's carrying on normally. But are they going to be? And I suppose for any health condition, nobody knows, knows that.
Although Deborah didn’t want to attend appointments in her late teens she realised they were important.
Although Deborah didn’t want to attend appointments in her late teens she realised they were important.
Age at interview: 36
Sex: Female
Age at diagnosis: 13
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I don't remember being told much about it, other than I just had to go for check-ups to have my blood pressure and my kidney function checked on like at least a yearly basis.
And how did you feel at the time, hearing that?
When I got into my older teens I really didn't want to do that any more, I was fed up of it. And I suppose because I didn't really know any information about it, I wanted to stop. And I think I managed to postpone one appointment but then [laughing] still continued going. But I think then as I got older again, I just realised - you know - best to go get it checked.
When you said when you got to your older teens, why was that then? Was that just because-
I think because I'd gone off to university. So like, and didn't really want that hanging over me, I just wanted to like think everything was fine.
Yeah.
Yeah. But then one of my consultants once said to me "Don't ever let it affect the way you live your life." So I haven't, now [laughing]. Yeah.
For those who experienced kidney function loss, their check-up test results started to indicate a slow decline or “tapering off”. Kevin said that it was when his check-ups became more regular, dialysis was mentioned for the first time.
Angela says that check-ups are important even if they “find nothing’s wrong”.
Angela says that check-ups are important even if they “find nothing’s wrong”.
Age at interview: 40
Sex: Female
Age at diagnosis: 10
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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.
After missing some appointments, Kevin started going to his clinic again for regular check-ups, which led to conversations about dialysis.
After missing some appointments, Kevin started going to his clinic again for regular check-ups, which led to conversations about dialysis.
Age at interview: 42
Sex: Male
Age at diagnosis: 6
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I missed. I just kind of went off the radar medically a little bit, I think. Wasn't something that was planned, but I think it's like most of teenagers, early twenties - you think you're indestructible and it won't happen to you, it always happens to somebody else. And so I just kind of - I think it was when I as about 18, 19. In fact I remember, I'd started university when I was 19, and I think I'd got one appointment that I was either late for or couldn't make. And after that I don't remember having an appointment for about four years. I'm sure I was getting them through the post, but as a student I was moving quite frequently as well, so the, the unit wouldn't have had my most up to date address. And I'm pretty sure that what would have happened is that my brother then started to deteriorate. And being three and half years older than me, I probably at that point thought 'yeah, I probably need to get back in touch with the unit and start getting checked again'. And so I did. And I had a couple of periods of ill health. Think the first one was when I was around 22. I got really chronically exhausted. I was working a lot at the time, but I ended up taking about four months off work. Because I just couldn't recover as quickly as I would have normally done. And that's when I really went back to the unit. And it was at that point that somebody at the unit mentioned that, you know, at some point on the horizon I would be looking at dialysis. And as I recall it, then I was quite just annoyed by that. Because it wasn't something that I'd given a lot of thought to. And then I got better, and I was okay for another few years. But I was being checked fairly regularly at that point. And I do remember, as I mentioned before, that I was sort of being nauseous and vomiting a lot in the mornings. But I was single at the time, so I didn't have anybody to tell me that that's not normal. Because, you know, I was having quite a hectic lifestyle at the time. I just put it down to that. And then a few, about a year later , I was with my girlfriend - now my wife - and she was, you know, taking me into work and I asked her to just pull the car over while I was sick. And she was quite perturbed by that, and said, "That's not normal, you need to tell somebody about that." So I mentioned it to my dialysis unit, got - had some more checks. And then they said, "No it's, it's heading that way now, so we need to start thinking about dialysis."
Aside from appointments which looked at people’s blood and urine, hearing and eye tests were also talked about. Lucy said that her children went to audiologists, and an eye clinic as well as paediatrics. Diane and Neil said that they expected their 4 year old son to start have hearing checks in the next few years. Some parents said they would monitor their children’s hearing in the future. Jayne said that her son wears hearing aids and also gets eye checks because he has eye “flecks” (see also 'Alport Syndrome - dealing with hearing loss' and 'Alport Syndrome and eyes').
Some people spoke about their own or their children’s anxieties and strong dislike of blood tests. For some, this became an issue at annual check-ups. Amanda’s son has a needle phobia and so check-ups every six months felt “horrendous” because she had to hold him “to get his bloods taken”. Some people described needle phobias and anxiety when starting dialysis and getting access points (like a fistula- a special blood vessel surgically created to connect an artery to a vein for haemodialysis).
For those who were post-transplant, hospital appointments were much more frequent, at least initially. People stayed in hospital for a period of time immediately after transplant, then if recovery was good, check-ups were weekly and then less frequently. Richard X and Alison said that they now have check-ups every 3-4 months after their transplant. Alison who had her transplant the year before said she was also encouraged to ‘self-check’ her new kidney. She said at night she often checked the feel of it, which she had been taught to do by the transplant unit.
Several people said that they themselves monitored or checked their own results. Debra said she pays more attention to her results as she gets older. Angela said that she was less likely to cancel appointments as she felt “less immortal” now as she gets older. People also spoke about looking up their results online using ‘Patient View’ (see Resources) or finding information about Alport Syndrome online.
Lucy talks about her appointments and asking questions.
Lucy talks about her appointments and asking questions.
Age at interview: 38
Sex: Female
Age at diagnosis: 8
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Yeah that’s right. Yeah so, I did for the first ones, you know I had a relatively long list for the first ones and, you know we've been to this day and we've heard about this and we've heard about that and, you know, and questions like, impossible questions for them to answer obviously, but things like, 'When will he get hearing loss,' and, you know, 'When is likely to show any increase in symptoms,' and things like that, and of course they're only, their answer was always just going to based on statistics and you just never know on then individual basis.
And what sort of stuff did they tell you about those statistics or - ?
They confirmed what we already knew. So, I think I kind of asked the same questions fairly frequently to check that nothing's changed; you kind of live in hope all the time that things are going to change and there's going to be a miracle cure as well [laughs]. And you know I talked to them about, not so much actually these consultants, but in the past I have talked about the process of what happens in kidney failure, you know what treatments there are for kidney failure; how that works. Whether my kidney is going to be any use for my children, which it isn't [laughs].
Kevin feels more in control of his health through looking up his test results on Renal Patient View.
Kevin feels more in control of his health through looking up his test results on Renal Patient View.
Age at interview: 42
Sex: Male
Age at diagnosis: 6
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Renal Patient View. And it's, basically it's linked in to the hospital's blood results. So as soon as my results are available, they're posted on the site. And it's linked to the hospital's website. So usually I've seen my results before my doctors [laughing]. But what it's done over the years has allowed me - for example, if I've had some checks because I'm feeling unwell, I can see my results. And several times I've seen my results and been able to ring my specialist and say "I don't feel well, I've had my bloods done, this is what's there." So rather than having to wait for an appointment, I can talk to somebody over the phone. And he might say, "Well okay, increase this medication or decrease this. And then we'll see you in a week's time and we'll see what's happened." So they can take action much more quickly. And it does make me feel much more in control of what's going on. So in the old days I'd have a blood test and I'd have to wait a fortnight to see a specialist, to tell me what those results were. Now, I can have my - I can have my bloods done on Tuesday, and get my results on Wednesday night. And that's really helpful actually. It makes me feel that I'm in charge of my results, not just somebody else.
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