Some of the people we interviewed said that at certain times in their life they had experienced very few or no visible symptoms either before or after getting a diagnosis of Alport Syndrome. Often people spoke about feeling that their Alport Syndrome was invisible to others. Some people described their childhood or teenage years as symptom free with “nothing”, “completely normal” and feeling “healthy”. For some, this continued into their early adult life: Karen said she didn’t have any symptoms until she was 24 apart from urine infections as a child. Even the blood in her urine was not visible to her. Jayne also said she wouldn’t have known she had Alport Syndrome “if it wasn’t for a dip test” whilst Richard Y said he felt as “fit as a fiddle” in his 20s despite knowing he had Alport Syndrome.
‘Invisibility’
Sisters Katie and Sarah described having no outward difference which on the one hand meant their Alport Syndrome was not visible to others and having blood in their urine was “normal” for them, yet on the other hand they felt it was difficult to explain to other people because they didn’t “really understand what it means”:
Katie and Sarah talk about explaining their Alport Syndrome to other people.
Katie and Sarah talk about explaining their Alport Syndrome to other people.
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Sarah: Well, I've told my friends about it, and I've explained it to them. But it's not exactly an interesting thing, so there's not much to say.
But they are quite aware of it. Like they know, and they remember about it. They don't just forget about it.
It's a difficult thing to bring up in conversation, because it's not like - it doesn't feel like a serious disorder, because obviously they can't see anything physically wrong with me. And they're just like 'okay, you go to the hospital once a year, and that's it'. But then like in the future obviously it could affect us, and all that. And it's really difficult to explain to people, because when people talk about children and that, and they're like "Do you want kids?" And I'm like "Well no, but then I have this thing anyway that I have to consider." And they're like "Oh, okay." And like they don't really understand what it means, so.
Sarah: Because it's not an outward difference. But when you tell people that you have a genetic sort of thing, everyone just kind of looks at you differently, so.
Katie, what about you?
Katie: Hasn't really affected me in that sort of way. But it sounds worse when you tell people. Like "Oh, I have blood in my urine." They're like "Oh my gosh, why?" But it hasn't really affected me.
It's quite frustrating, because you can't actually cure it. Because like, I used to be like "Well, can't you just take it out?" But it's just too small. There's nothing to be done.
It worries me that like if I ever had like had like a doctor and there was something wrong like with me, and like they didn't know about it, then they wouldn't look at that. So I'd have to like - I may have to like tell them about it, or something.
Frances finds she gets used to explaining Alport Syndrome because many people haven’t heard of it.
Frances finds she gets used to explaining Alport Syndrome because many people haven’t heard of it.
Age at interview: 35
Sex: Female
Age at diagnosis: 16
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It's quite - it's a strange one because people say like - especially if I'm at my work or something, and somebody says something…, and they go "What is it you've got again?" And they look at you as if you're a weirdo. And you're like "It's Alport syndrome." And they go "Never heard of that." And I'm like "Nobody's ever heard of it. It's fine." You know, you get that used to explaining it. And when I was wee, the only way that my Mum ever explained it to me was "Your kidneys are like sponges." Because when you've been to the doctors, they're like a hundred words and you're just sitting there thinking 'no idea'. They don't say it in layman's terms, I'd no idea what they're talking about. My Mum just said "It's like a sponge, and it soaks up everything you put in it. And then it filters it out." They says, "But yours filters - it doesn't work properly. It keeps stuff in it, and it rots the kidney." And I was like "Right." So it keeps the bad stuff in, it doesn't pass it. So it leaks it into them, and then you kind of just rot. And I'm like "Oh right, okay." And I used to think 'why don't you just get new sponges?' Because a child, you just think 'well you need a new sponge then'. But you don't realise that that new sponge is a new kidney.
People also spoke about not wanting to tell others about their Alport Syndrome. Debra said “I think people get quite uncomfortable when you start talking about illnesses”. Dee felt that she didn’t want Alport Syndrome to define her (see also People’s attitude to Alport Syndrome and their outlook for the future and Alport Syndrome - messages to others)
Dee talks about not wanting Alport Syndrome to define her.
Dee talks about not wanting Alport Syndrome to define her.
Age at interview: 51
Sex: Female
Age at diagnosis: 48
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I don't think it is, really. Because it's just - you know - it's not, I don't want it to become a lifestyle, it's just a condition, sort of thing. I don't want it to be, you know. It's just for me to get on with, really. You know, you see people on some things, and they wear t-shirts, and like 'oh, look at me, I've got a kidney thing'. And I'm like no, I don't tell many people about it, and I don't - you know - apart from if I've got to - say about hospital visitor or what have you, I don't talk to my family about it either, it's just - you know. Just there, and that's it. It's not - don't want it to be something to focus on though, you know? Don't want it to define me. You know, I mean, I see people and they're like - a woman said to me the other day at the bus stop, she said "Why have you got a bus pass? You're not 65." I said, no. I said "Mine's a disability one." "Well, you're not disabled." I was like "I am, I'm on kidney dialysis." She went "Well, you don't look ill." And I was like "Well I do apologise about that" [laugh]. You know, but it's right, because I don't tell many people, because you don't look ill about it, so people just tend to not take you seriously anyway when you talk about things. But I don't want to discuss it really. Not many people know. My friends from work knew. You know, close friends, you know, but many people don't know.
Certainly, for many people, they wanted to normalise their everyday lives despite having Alport Syndrome. Many spoke about carrying on as ‘normal’ with work, relationships and social lives (see Alport Syndrome and work and Alport Syndrome - family life, hobbies and interests). Often parents who had Alport Syndrome themselves described feeling more concerned about their children’s health than their own.
Amanda describes feeling fine and is more concerned about her son who has Alport Syndrome.
Amanda describes feeling fine and is more concerned about her son who has Alport Syndrome.
Age at interview: 39
Sex: Female
Age at diagnosis: 33
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We take a day at a time. And when I speak to people, they say "Oh, look at him, and look at you, you wouldn't really know that there's anything wrong." And I'm like "Yeah, because things are good just now." I says, "But at one point things won't be good." Especially obviously - I'm not really trying to think of it myself, it's my son I'm more thinking about it that way, that you know, it could be just one day that - you know - he could take a really serious viral infection that affects his kidneys. Or as we know obviously the process when he's getting his bloods taken, that the kidney function is dropping and dropping, then eventually that is how things are gonna go. I need to look into the future, because I'm that type of person, that I need to know what - what will happen. How is things gonna go?
And what about yourself? In terms of symptoms? So you said about your kidney function?
Absolutely fine. I don't feel any different. Unless there's - there's some things that I don't know about, that - you know. But I do. Because my cousin obviously had said to me, you know, "And how are you feeling, and things like that?" And I was like "I don't really feel any different, to be honest." I says "Perhaps maybe when I get to a certain level, then I think things start to happen to you, that then indicate that you are starting to go through failure." Like really tired, and - you know - losing weight drastically, and things like that. I've heard that from obviously someone that was in the hospital next to me, when I was getting a biopsy. She just said "You know, just - I just took unwell." She says, and lost a lot of weight, and couldn't recover from what she thought was a viral, and. And it actually was her kidneys were failing. But apart from - no, I feel okay. You know? I really can't - and I think my son does as well, generally.
Lucy describes wanting to ‘normalise’ things for her children.
Lucy describes wanting to ‘normalise’ things for her children.
Age at interview: 38
Sex: Female
Age at diagnosis: 8
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And yeah, and it was always just one of those things, and I think because I've never had any ill-health or any worry about it, it's just not -, it's just been off the radar; you know I've never needed to kind of feel upset or aggrieved or [laughs] – Hard done by because it's never -, it's never been a problem.
Not really bothered you?
It's just one of those things that’s on my medical notes and doesn’t affect me until I have to explain it to everybody in pregnancy [laughs].
So yes - so I might ask you about that in a minute. So that’s quite a positive feeling then I guess that - ?
Yeah
It's something that hasn’t really sort of –
It's just taken for granted, completely taken for granted; it always was all the way through my childhood. I think, you know my siblings were probably vaguely aware of it but only in the sense that I got to miss a bit of school occasionally cos I had to go to the hospital.
But I was never ill with it.
And we've been quite keen - I guess, I mean you'll want to talk about my children but we've been quite keen to follow that pattern ourselves as a family to make sure that it is just the norm for our children.
And that there is no kind of before and after line where they're told something and there's an announcement and it's worrying and -, you know.
Some people spoke about Alport Syndrome not really impacting their life and feeling well, even if they had annual check-ups and blood or protein in their urine. Lucy described going to hospital once a year to get her “leaking kidneys” checked but thought this was normal. Jayne said she didn’t take any medication nor had she made any dietary changes. Deborah says she feels “perfectly normal, perfectly healthy”. Lucy feels her Alport Syndrome doesn’t affect her daily life. Michael takes blood pressure medication but describes this more as an inconvenience trying to remember to take a pill each day.
Richard X describes the difference between him and someone who doesn’t have Alport Syndrome
Richard X describes the difference between him and someone who doesn’t have Alport Syndrome
Age at interview: 39
Sex: Male
Age at diagnosis: 9
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The only difference I suppose between me and someone who didn’t have Alports was that I had hearing problems which people have hearing problems anyway for other reasons. And I had to go to the hospital regularly for check-ups and, and blood tests and I suppose the main symptom I got when I was when my kidneys might have been struggling slightly was if I had a cold or sore throat or something, that would really have an effect on my kidneys and so passing urine was difficult and painful so that was probably the only real symptom kidney wise.
Steve spoke about having no symptoms up until his 30s, when he developed renal failure. He considers himself lucky that he has experienced no hearing loss. People said that even when they developed symptoms, they assumed that this was their normality. When Diane’s hearing and kidney function deteriorated she felt that it was a slow decline and that, “whatever I went through, I just assumed was quite normal”.
Kevin talks about his brother going through treatment first and that this was part of his ‘normality’.
Kevin talks about his brother going through treatment first and that this was part of his ‘normality’.
Age at interview: 42
Sex: Male
Age at diagnosis: 6
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We didn't talk about it much, like I say, because there wasn't much to talk about. But as we've got older that had a real big impact on me, in a positive way, because - unfortunately for him, but because he was older, he'd go through everything first. So he was on dialysis about four years before I was. And so every procedure that he had, I was very likely to have. But I'd already seen him go through it. So I was quite clear about what I was going to be having, and what it was going to be like, and what the options were going to be. So I think that really helped me, because I didn't have to give it that much thought, because it was kind of presented to me with somebody else doing it first. So we talked about it at that stage. So I remember when my brother went on dialysis in the first place, he went on the CAPD as well. He went on a slightly different version, he was on the overnight one. You know, whereas I went onto - doing it four times a day. Yeah. But yeah, that was - that was when we started to talk about it much more, because it was then having a real significant impact on his and then my life. So, so yeah, that was quite different for us. And it was the same thing - he had a transplant about three years before me. So then I saw what happened when you have a transplant, and what the procedure is, and how that all works. So, so yeah, so it was - I was kind of - I feel at least kind of fortunate that it was still part of my normality, because I'd just seen it all happen a few years in advance before it happened to me. So there was none of it that came as a big shock, or was like particularly surprising. The day to day aspects, we did talk about it a bit, about how it makes you feel and so on. But there's only so much - it was quite boring to talk about it a lot [laughing]. But it was handy to have to someone that understood exactly what, what it was like to go through it. But , but again, as I say, it's not something that we've spent a great deal of time talking about. It would come up occasionally in conversation, but it was just part of normal life, so we talked about other things, you know, what was on the TV or anything else really.
Whilst many people experienced periods of time without any symptoms, some people had symptoms from an early age (see First signs and symptoms of Alport Syndrome and Alport Syndrome - dealing with hearing loss).
‘Benchmarking’
Those who spoke about having few symptoms currently, sometimes worried about how their health might deteriorate in the future. Frequently people looked to other family members who had Alport Syndrome as a ‘benchmark’ for their own health. This sometimes provided reassurance. Michael said that Alport Syndrome tended to take a while to affect the men in his family.
Dr Neil Turner, consultant nephrologist talks about the usefulness of benchmarking.
Dr Neil Turner, consultant nephrologist talks about the usefulness of benchmarking.
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It's useful. It's useful. There are some families who, where the pattern of disease obviously seems to be quite severe. So the hearing loss comes on quite early, and the kidney disease comes on quite early. Nowadays we can quite often track that down to a severe mutation. And in other families, the disease tends to be quite mild. The difficulty is that for any individual person, they cannot be sure that they're going to follow the family pattern. So although they may be - if you come from a family with severe disease, although you're more likely to get severe disease, there are some lucky people in those families who get very mild disease. And vice versa. There are some people in families that tend to be mild, who get very early disease. And we often can't fully explain yet why we see that amount of variation.
Debra describes feeling well and that she looks to other family members like her Granny who is 79 and well.
Debra describes feeling well and that she looks to other family members like her Granny who is 79 and well.
Age at interview: 33
Sex: Female
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I mean, all I can really base it on at the moment is that, when I have my appointments everything seems to be in check, everything seems to be okay. I am generally well, I don't - as I say, I don't experience any symptoms. And then looking at my family, obviously my Dad's not alive any more, but his mum - my Granny, where the condition came from, she is very well. You know, as I say, she's I think, she's about 79 now. She's well. She's never been ill. She's never been on dialysis. She's never needed a transplant. You know, she's - she is well. But yeah, I mean, it is a worry. Because you just don't know, and you don't know how things will turn out if you're - you know - your sort of function’ll drop at some point. You just don't know.
I, well, it's difficult because I always think well, you know, I've got two parents and look what happened to one of them. And that's where the condition comes from. But my husband and my Mum, obviously but - you have to benchmark yourself against the other female. And actually, my Granny is the closest, in terms of the condition, to me. And I have to look at her and think well, you know, she's doing pretty well, and she's never had any problems, so.
Alison and Lucy had no family history of Alport Syndrome (sometimes called a ‘spontaneous’ mutation; see What is Alport Syndrome?). Alison describes having no previous indication or knowledge of what to expect. She recalls having no symptoms and feeling healthy in her childhood and teens – she sees herself as “one of the unlucky ones to just pick it up”.
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