We asked people what signs and symptoms they had before their diagnosis of Alport Syndrome. Some described experiencing a series of different symptoms leading up to diagnosis. Other people had no or few visible symptoms. Richard Y was in his early 20s and suddenly discovered very visible blood in his urine whilst at work which led to a diagnosis of Alport Syndrome. Mariam began to get hearing problems when she was a child. Dee says looking back before her diagnosis, she was often very tired and had no energy.
As Alport Syndrome is usually hereditary, some people had family members with Alport Syndrome and were diagnosed at an early age without necessarily having any symptoms (see also: Getting a diagnosis of Alport Syndrome and What is Alport Syndrome?). Both Patrick and Kevin said they had Alport Syndrome for as long as they can remember. Kevin’s older brother was diagnosed with Alport Syndrome before him and Paul was diagnosed at birth as his brother had been diagnosed aged 4. Some people were diagnosed with nephritis (inflammation of the kidneys) or benign haematuria (blood in the urine) in their families or were aware of a family history of kidney disease or inflammation of the kidneys, even though this might not have been diagnosed as Alport Syndrome. Some people like Karen suspected they had Alport Syndrome in the family but this was not confirmed until genetic testing later on.
Michael Y: explains his family history of Alport Syndrome, and how he finds it sometimes easier to just call it ‘kidney disease’.
Michael Y: explains his family history of Alport Syndrome, and how he finds it sometimes easier to just call it ‘kidney disease’.
Age at interview: 25
Sex: Male
Age at diagnosis: 24
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Well when I was 5, and my sister was 5, and my brother must have been about 8, she was getting her kidney transplant. So, I mean, that's simple enough to explain. But Alport syndrome isn't something really that's - it's quite complicated. And it's easier just to say sort kidney disease, kidney transplant. My [clears throat] Mum has it, my cousin has it, my Mum's cousin has it. And then there's also a couple of carriers with it, who aren't affected by it, in the family. So it's very sort of popular [laugh] and known in the family. So when I was diagnosed, I understood what it was, but-. That's only because, such exposure to it from pretty much [laughing] my family or so. I’m not sure.
Debra explains her family history of Alport Syndrome and being very aware of the condition.
Debra explains her family history of Alport Syndrome and being very aware of the condition.
Age at interview: 33
Sex: Female
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I don't really remember - you know - sort of discovering Alports as such. So, when I was a child, I always remember going to the hospital. So I went to the hospital every year, I think.
Just to the renal clinic for check-ups. Because obviously my parents, they knew when I was a baby.
So I got the Alports from my Dad. So he- my Dad and his brother both had it. My Dad is dead ten years now.
Okay.
But his brother is still alive.
Right.
So they both had Alports. And my Dad had his first - well, his kidneys failed when he was about 17. And he had his transplant when he was 23, I think. Because it was only with the transplant that they were able to have me. Because I don't think you're able to when you're on dialysis. So he had that transplant. But then that rejected when I was about 2. And then he was on dialysis on until I was 12, when he then got a second transplant. And that second transplant, you know, sort of saw him right through. It was on its way out towards, you know, when he died. But it saw him right through. His brother is - he's the same age as my Mum. So his brother's almost 58. And he's still on his second transplant. But I think it's quite, I think it's functioning at about ten, fifteen percent, I don't think it's particularly great. But he had, but they both had two transplants. So I was very aware of it, obviously, you know, I grew up with my Dad being ill and being on dialysis. And, you know, having lots and lots of health problems. So I was very, very aware of the condition.
Some people like Lucy were the first in their family to be diagnosed with Alport Syndrome (sometimes called ‘spontaneous’ Alport Syndrome). This sometimes led to other family members being tested and diagnosed.
Although experiences varied, nearly all the people we talked to said one of the first signs or symptoms was blood and/or protein in their urine. Sometimes this was picked up whilst visiting the GP for something routine or unrelated. Lucy went to her GP for reflux when she was little and it was then that protein was discovered in her urine. Sarah was having a check-up for being underweight when doctors discovered blood and protein in her urine. Jayne and her sister had blood and protein in their urine but had no other symptoms and were given a “blanket diagnosis of nephritis”. It wasn’t until Jayne’s son had hearing problems that she found out she had Alport Syndrome.
Dee explains how she had few symptoms – only tiredness and blood in her water – before her diagnosis.
Dee explains how she had few symptoms – only tiredness and blood in her water – before her diagnosis.
Age at interview: 51
Sex: Female
Age at diagnosis: 48
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It all started out when my granddaughter was a baby, and she went to the doctors for some check-ups, and they found she had blood in her urine. And then she went to see a specialist, and from there they found out that she had some sort of kidney disease. And so they asked if anybody else in the family had it. And I mentioned that I'd also been checked for urine infections, because I'd always had blood in my water, and that they always gave me antibiotics for it. So they asked me to go in and have a check. And they checked my water, and although it had blood in it, it wasn't through infection it was because of my kidneys. And they found out that I was actually on eleven percent kidney function. And so that's how I found out that I was having this. And then so from there I've gone onto dialysis. And probably within twelve months I was on dialysis. So it was quite a shock really, because it could have… I wouldn't have known. The only symptoms I actually had, looking back so to speak, were the fact that I was tired all the time and I didn't have as much energy. But I just put it down to being older, and things like that. It came on so gradually that I didn't really - thinking about it - the doctor explained to me what my body was going through, it was like "Wow, that's why I feel so tired, then." But that was the only symptom, so to speak. And I didn't have a clue otherwise. Not at all.
Gosh.
No pain. No discomfort. Just tiredness.
Deborah went to the doctors with stomach pains and they noticed she had blood and protein in her urine.
Deborah went to the doctors with stomach pains and they noticed she had blood and protein in her urine.
Age at interview: 36
Sex: Female
Age at diagnosis: 13
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I was just wondering whether you could maybe tell me your story, from the beginning, of discovering you have Alport Syndrome?
Yeah. It, it was actually by chance. I think I was about 12 years old at the time, and I was having really bad pains in my stomach. And so each time I was going to the doctors, they were making me do urine tests.
And they were noticing that there was a lot of blood and protein, and they referred me to [name] hospital. And again, to have more urine tests, and the same thing kept happening. And they noticed it was a regular thing. It wasn't - they didn't want to… in case it was to do with like periods or something like that. But it was every single time. And so I got then transferred to [name] hospital for like just day appointments. And whilst I was there, they did a biopsy on me, shortly before my - mmm, I think was it, around when I was about 13. And that biopsy revealed that I had Alports.
Some of the women we spoke to said that problems were only picked up in pregnancy:
Amanda explains how doctors discovered she had protein in her urine during pregnancy. She had a family history of Alport Syndrome but it took a while to get diagnosed.
Amanda explains how doctors discovered she had protein in her urine during pregnancy. She had a family history of Alport Syndrome but it took a while to get diagnosed.
Age at interview: 39
Sex: Female
Age at diagnosis: 33
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When I was pregnant with my son, back in 2006, they had realised that I had protein in my urine, and they thought this was very unusual, and said that they would investigate it further once I had my son. So I had my son in 2006. And in 2007 they decided to do a kidney biopsy on myself. Which, the results come back unconclusive. Even though I had mentioned that my Grandpa and the family had Alports. So in 2008 they done another kidney biopsy which come back unconclusive again. So this was very unusual, because I was thinking 'well, you know, it is in the family, I don't understand why this isn't showing'. So we're in the process of like obviously, that going on with myself. My son had urine infections, and we had obviously attended the doctor, and the doctor says "I think I'm going to send him to obviously a local hospital in [place], children's hospital, to get him checked out." And while we're going along they were monitoring obviously how, how things were going and why he was having urine infections, they came across that he was born with one kidney. So obviously they said to me "Look, people can have a long normal life with one kidney, don't be worrying about this too much." And I've always mentioned him to the, that the family's got Alports. And said to them that I had been sent away for a kidney biopsy, but obviously it's come back unconclusive. So they always thought to themselves 'well, if you've come back unconclusive, unconclusive, then he can't have Alports'. And I obviously kept mentioning after he was getting another urine infection again. This one doctor said "Well, you do know what, we're gonna take a blood test off him and send it genetically away, just to - just to check. It's probably gonna come back saying no, so don't worry about it, because obviously you've been checked, but we'll just do it, just to be safe than sorry." I said "That's fine." And then in 2009, in the September, we got a letter through saying that he had Alports.
For some, the presence of blood in the urine was very visible:
Richard Y explains how he passed urine like ‘Ribena’ when he was in the first year at university. This led to various investigations including a biopsy and his diagnosis.
Richard Y explains how he passed urine like ‘Ribena’ when he was in the first year at university. This led to various investigations including a biopsy and his diagnosis.
Age at interview: 37
Sex: Male
Age at diagnosis: 23
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Yeah. It all started while I was at university here, at [University name]. I was just starting the second half of my first year at university, in 2001. And my part-time job was at a fast food chain, and I went into work one morning after Christmas, went to the bathroom, and passed what I only I can describe as Ribena into the toilet. So my boss, thinking it was a ploy to get away and go out partying or anything wouldn't believe me. So I had another member of staff come, and I peed again. And that afternoon I went to see my GP, blood in the urine. Because it was quite, it must be quite worrying for anybody, they had me in straight away. I did a test, and they was gonna dip it to see how much blood was in my urine, but it was Ribena-coloured. And so then that became part of the - well, that started the journey of trying to diagnose what was happening. So I was sent for not a colonoscopy, the camera into the bladder, I can't remember the medical name for that, if I'm honest. And so it was a little bit undignifying at 23 years old, to be in a room full of older guys, being prepared to have this camera somewhere it shouldn't go [laughing]. They checked that out, and nothing. Nothing came back, there was no damage in the bladder, nothing. The only thing they could find was some protein and blood in my urine. It had gone back to normal colour, but I was leaking blood and protein into my urine. So I was sent then to hospital in [place]. And they suggested the only way they could find out - sorry, I'll jump back. My uncle had already had renal failure, on my Mum's side, but they couldn't find out what had caused that renal failure, and he'd just had a transplant. And so they looked at family history, and they thought okay, the only way we can discover what may have caused my uncle's renal failure and what could possibly be causing mine, or well kidney problems, would be for a biopsy. So a few months later I was booked in for a kidney biopsy at the local hospital. And they took two or three samples. And within a month they came back with the lab reports, and they mentioned in the clinic follow-up that I had Alports. Nobody really at that time - it seemed to be quite rare. Nobody really knew what was happening, and I was not put on any medication. I'm just referred once a year, to keep following up. For the first two years I was yeah, there every time. And then I missed a year. And then following year made a year. And then just life took over.
People also recalled that they or their children had nappy “staining” (blood in the urine or haematuria) as a baby which then led to further checks. Urinary and kidney infections were also talked about. Many people recall frequent blood tests as a child and going to the hospital for regular check-ups (see also Getting a diagnosis of Alport Syndrome).
Michelle’s daughter had recurrent tonsillitis infections and it was during this time that blood and protein were discovered in her urine.
Michelle’s daughter had recurrent tonsillitis infections and it was during this time that blood and protein were discovered in her urine.
Age at interview: 47
Sex: Female
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She also had a tonsillitis type thing at the time. So they treated the tonsillitis and that cleared the urine problem. This happened quite frequently when she was younger. And in the end they decided there was something to do with her tonsils. So at 4 years old, they removed her tonsils and adenoids. But still there was [throat cleared] a presence of blood, and sometimes protein in her urine and they didn't know why. So eventually after lots of different consultants not really knowing why but she seemed fit and healthy, they decided to refer us up to [the hospital], to [the doctor], to the nephrology department to see if there was anything else.
And at 5 years old she had a biopsy, which told us that she had - well, they didn't really know what she had actually.
Ah, okay.
Something. And she - benign haematuria is what they called it to begin with.
And they thought it was a genetic thing. So then they took follicles of hair from various members of the family. Myself included. My father, my grandmother. And incidentally, my grandmother has had a kidney removed. My dad has traces of blood in his urine. And I do as well. So there is a link through the family with it all.
Okay.
Nothing really happened. We went up to [the hospital] annually, and they checked. They didn't really know what was causing it, but other than this traces of blood and protein in her urine, she was fit and healthy.
Blood tests didn't really show anything. But they wanted to keep, keep seeing her. Alport's wasn't mentioned at this stage, it was just benign haematuria but they needed to keep a close eye on it. And since she had her tonsils out, she didn't get the throat or infections, so it didn't seem to affect her. Then [my son] came along, and they wanted to see if he had it. And apparently he is more severe than her, and apparently that's common, that boys - it affects boys more than it does girls. And he didn't have to have a biopsy because he had exactly the same symptoms as [my daughter]. Slightly more blood sometimes in his urine than [my daughter]. They did a blood test on him but didn't do the, have the biopsy. And they did the follicles of hair, and they did that again on all of us, about - gosh, it must have been about five, six years ago. And [my daughter] then had the opportunity to go up to see [the doctor], into the genetics, to explain how it's all linked to the genetics etc. And it was then that - that was the first time that the word Alport's and autosomal recessive Alport, and it was [the doctor] that actually said that that was the condition that they both have.
Steve talks about his earliest memories of being diagnosed and how he was told not to worry about his diagnosis.
Steve talks about his earliest memories of being diagnosed and how he was told not to worry about his diagnosis.
Age at interview: 37
Sex: Male
Age at diagnosis: 3
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My earliest memory is of having blood tests as a child. My mum tells me that, that I took some tablets, or my parents thought I'd taken some tablets that belonged to my grandparent and they took me to hospital to get me checked. Turns out I hadn’t but I had some blood and protein in my urine, so they did some more tests and somebody at the hospital at the time figured out I may well have this condition and it took some time to figure it all out. But yeah they worked out that I had Alport Syndrome back when I was three. However they didn’t really know what that meant. They had like a really bad prognosis for my parents; they were told to expect that I wouldn’t like live for very long back at that time, so that was a bit of a nightmare. But, as it turned out, I did, you know I'm still here, and as the years went by that the prognosis would change. So, I was seen at the hospital every year for a blood test and then when I got to seventeen I was being seen by [name] hospital. The nephrologist there told me that I'd passed what they considered to be like the danger area. They said usually kidney failure happens in younger adult, like in, sorry like adolescence or teenage years and that as I was kind of coming out of that time I didn’t really need to worry so much about it and they discharged me to the doctor to have yearly blood tests. So, I never worried about it after that. I'd go and get my blood tests and then I'd just go about my normal life. It wasn’t until I was thirty, sort of thirty two/thirty three that, that I started worrying about it again and my, my wife and I had a child and she knew that I, my wife knew that I had the condition but never really understood what it meant and she would, she'd looked online and at the time the only kind of authority on Alports was an American website, they had a patient support group there, and it was a kind of a lot of worry around Alport Syndrome, a lot of bad stories, so naturally she was worried about our daughter.
Other symptoms people described experiencing before diagnosis included a “metallic taste in the mouth”, “leg cramps”, “not sleeping properly”, “nausea and vomiting”, “itchy skin”, “not much energy” and “tiredness”. It is unclear if these were signs or symptoms caused by Alport Syndrome or whether these were unrelated. For a few people, a definite diagnosis came about when they became ill with something else.
Karen explains how kidney disease was in the family and how it was suspected that Alport Syndrome was in the family.
Karen explains how kidney disease was in the family and how it was suspected that Alport Syndrome was in the family.
Age at interview: 42
Sex: Female
Age at diagnosis: 33
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Yeah when I was five years old I got tested for kidney disease, because there's kidney disease in the family. And we moved GPs at that point so the letter got lost. So, at twenty one I went for a medical for a job and they found blood in my urine. Asked me whether there was any history of kidney problems in the family, so I said yeah I did get tested when, you know when I was really young, and they checked back through my records and there was a letter there saying that I had got kidney disease and I should have been monitored by the kidney clinic from the age I'd had the test. So, I kind of…for sixteen years I was oblivious to the fact that I had kidney problems which was good you know. And then I got referred to the hospital, but to be honest I didn’t take it up because I didn’t feel any - , there was anything wrong with me or anything like that. So, then I, at twenty four, I moved to [place] and I got pancreatitis, and returned back to [place] where I was living and ended up in hospital, and it basically made my kidneys fail because I was so ill with the pancreatitis, and obviously I'd got this pre-existing condition. So, at twenty four my GFR, which is your kidney percentage, was twenty four. It's never gone above twenty four since I was twenty four. So, from then on I was then monitored at the kidney clinic kind of, you know regularly. Had various other things happen like colitis and, you know kidney infections – urine infections, things like that; it all led to it being sped up.
We'd heard Alports in the family you know but nobody had ever had genetic testing.
I went to the genetics department at [place]; had genetic counselling and all that kind of thing and then they sent off the blood test to [hospital] and it came back that I had got Alports. So, kind of my Alports was the first that I know of properly, genetically tested, diagnosed Alports. So I don’t know how people know that it was Alports but they did. It was always said in the family that all the kidney problems were Alports. So, obviously I was a carrier; it came from my dad, it came from my grandma to him. So, because I'm female and it's X-linked to Alports I had no chance of not getting it. My brother's not got it because the boys don’t get it on the X-linked Alports from the man. So it's just me in, in our side and my uncle's got it as well. So, he's already had a transplant; back on the transplant list now and my kidneys have now failed. They failed in December 2013 due to the fact that I was made redundant and it was just a massively stressful time. So, in 2013 went for my normal regular check-up to be told, "Ooh your kidney function's dropped." So, from the age of twenty four to kind of thirty nine I managed to stay kind of, you know a certain level and then with that massive stress and I think any kind of life stress would have done it, they failed. So, in December I was put forward for dialysis and in the February I was put on a transplant list after, you know all the kind of testing and everything; then the meetings with the consultants. And in the March I went on dialysis – home dialysis – so I'm one of the kind of low percentage of females that actually fully develops the kidney failure.
Some people talked about experiencing kidney function “dropping” or getting “worse” or “deteriorating” over the years. Sometimes this was when they already had a diagnosis of Alport Syndrome. This was often after blood and protein had been discovered in their urine. Not everyone had a diagnosis of Alport Syndrome at this time and so sometimes renal failure was a sign which led to a diagnosis:
Robin explains how in his late 20s he got ill after an overseas business trip and was in the late stages of renal failure. It was then he was diagnosed with Alport Syndrome.
Robin explains how in his late 20s he got ill after an overseas business trip and was in the late stages of renal failure. It was then he was diagnosed with Alport Syndrome.
Age at interview: 62
Sex: Male
Age at diagnosis: 26
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So I would put it into two particular sections because one for my, when I first started experiencing symptoms. And didn’t know what they were. And then the second were really when I was actually diagnosed which was several years later. So from my early teens, 12/13 became aware that I was becoming deaf. That I was, had a lack of energy, was getting cramps, lack of appetite, so forth. And that got progressively worse during my teens and twenties. Deafness also increased but it was not until my late 20s during an overseas business trip that I got ill with an upset stomach. Became very dehydrated and came home that kidney failure was, and Alports was actually diagnosed. So by which time I was 26 but I’d had effectively the symptoms and progressive deterioration in kidney function from some, I guess for some 16 years prior to that.
Yes 28 and around that time yeah, yes. And what, what happened is I was actually on an overseas business trip. It was actually in, in the Middle East. I got a bug of some description it got very dehydrated. And so I suspect my kidney function was pretty much close to zero or 10 or 20% whatever it would have been, very, very low. As a result of all that I literally barely could not walk. I just felt as though you’ve got lead weights on you. And so I flew back. Said, “I really don’t feel, really feel very unwell here.” I flew back and I saw my. The day I came back I saw my doctor within the company. And he literally took about 5 minutes to look at me. He didn’t say what the problem was but he clearly knew what the problem was and he referred me to I think that same afternoon to a, what was then the Renal Un-, Group at [the hospital]. Said, “I would like you to go and see these people this afternoon.” And I got there that afternoon and I became a test case for the first time in my life because I was at a very late stage of renal failure unknowingly, then not dialysing. So they said, “We really would like to keep you in for a few days to really get you back up on your feet a little bit.” And that was my first introduction to the student groups of attendees at [the hospital]. So been well-used to meeting groups like that over the years. So it’s been import- I think it’s an important part of education of these people. You do get to meet patients in different stages of the, of the disease to see what’s going on and how to recognise it.
He clearly from what I described as being my symptoms and presumably just able to look at me and see I was, I must have been extremely anaemic apart from anything else was. I think he probably without knowing it was actually Alport’s he probably was able to identify renal failure. That’s what I would suppose although again he didn’t say that to me. But he just referred me direct to a renal consultant. And I think that was, he clearly knew what the issue was in it’s most generic sense.
Hearing loss was experienced by both the men and women we talked to. The loss of hearing and experiencing deafness was frequently talked about. This was sometimes the very first sign or symptom which led to a diagnosis of Alport Syndrome (see also: Alport Syndrome - dealing with hearing loss).For Jayne, it was her son’s hearing loss which led to a definite diagnosis of Alport Syndrome in her family. Sometimes hearing loss happened later on after a diagnosis of Alport Syndrome. However, several people, like Steve and Richard, haven’t experienced any hearing loss.
Richard X describes the first signs of hearing loss at school when his teacher noticed him lip reading and not paying attention in class.
Richard X describes the first signs of hearing loss at school when his teacher noticed him lip reading and not paying attention in class.
Age at interview: 39
Sex: Male
Age at diagnosis: 9
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Okay, yeah so first of all it was probably my parents that found out quite early on that the first signs I showed was when I was at school and apparently the teacher called my parents in to speak to them because I wasn’t paying attention in class. and but they weren’t really sure why that was but they noticed I’d been lip reading so that was the first discovery that actually there was something wrong with my hearing because I was just naturally lip reading.
I’m not sure exactly how aware people were of Alports at the time. I think it was quite early on, I’m 39 now and that was probably when I was about six, so a good 33 years ago so I think it was probably, it was probably early stages in terms of you know, the knowledge about the actual Alports Syndrome.
But I think what happened in between that time and then they sort of put the pieces together as it were so I had, when I was eight, eight I think I had a biopsy on my kidney but I think actually there was something before that kidney related which was I was passing urine in my, sorry passing blood in my urine and that was what they linked the two, the hearing problems and also that symptom and linked it to Alports.
So I didn’t find out till, I knew I had kidney problems cos I was always in and out of hospital having blood tests from when I was a baby and I didn’t find out until I was about 16 that what it was and the extent of it and that eventually I’d have to have a transplant and go on dialysis first obviously.
Mariam remembers when she was age 8 playing with her cousins and having trouble hearing them.
Mariam remembers when she was age 8 playing with her cousins and having trouble hearing them.
Age at interview: 21
Sex: Female
Age at diagnosis: 13
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Well I remember when I was playing with my cousins, and also with my sisters. We usually play like games outdoor, like chase or just anything outside. And I remember there was a time where I had like trouble hearing what they were saying. And it really like freaked me out, because like before, I remember my hearing was perfectly fine and I could hear everything. And so when we were playing, when I had my Alports - well, I kind of - well, it became a bit difficult to play.
Well I remember in primary school that the teacher was telling everyone about me having hearing aids [laugh].
Really?
Yeah. So it was a bit embarrassing. But, oh [laugh]. But yeah, I just remember feeling a bit embarrassed about my hearing. But all the kids were really nice about it, so. Wasn't that bad.
Well afterwards, I remember that I had a lot of trouble with like conversations, and hearing what other people were saying. Like mostly in classes when everyone's talking over each other, I'm not really sure what they're saying. Sometimes I ask them can they say it again, but I remember they would get really annoyed with repeating themself.
I remember I had to have like an operation on my ear. Yeah. I think they were trying to put - I can't remember what they're called. Just like these things in my ear, to help me hear better.
But it wasn't working. And I just kept getting worse with my hearing.
And, I remember it took them a long time to figure out what was wrong with me. And then I think maybe when I was 10 or 11, they found out I had kidney failure.
Ah
Yeah. So it took them a long time to figure out what was wrong with me. And they were saying that they think the kidney was because of my hearing. And that's when I got transferred to like renal clinic, but for children.
So I remember we'd visit them like almost every week or two weeks. And I also remembered that I was put in a, up on a list for a transplant. So, but at the moment I had to be on dialysis, and these machines, to clean out my kidney and the bloods, and. I can't remember how many times I had to go, but I remember in [hospital 1] they didn't have one, so I had to go to [hospital 2].
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