Alport Syndrome
Getting a diagnosis of Alport Syndrome
The path to a definite diagnosis for people with Alport Syndrome can be complex. For some people, their family history and knowledge of other relatives with Alport Syndrome meant that they knew from an early age and were diagnosed quite quickly. Patrick felt he had a fast diagnosis and similarly Paul was diagnosed at birth after his brother was diagnosed before him aged 4.
Frequently, the onset of signs or symptoms led to further tests and referrals (see First signs and symptoms of Alport Syndrome). People talked about getting referrals to kidney doctors and consultants and having a kidney biopsy. Alport Syndrome was sometimes suspected at these stages but not always confirmed. Some people were diagnosed with kidney problems before getting a diagnosis of Alport Syndrome. For Amanda her kidney biopsies were inconclusive and did not give her a diagnosis, but for Lucy a kidney biopsy at the age of 8 did give her a diagnosis. People spoke about experiencing a collection of symptoms or signs (sometimes experienced by several family members) which were then linked or pieced together. Sometimes this took several years.
Jayne explains how her diagnosis was made through putting “two and two together”
Jayne explains how her diagnosis was made through putting “two and two together”
And they found blood and protein in her urine. So they decided to test the whole family, and they tested my Mum and myself, and we'd both got it. But up until that point nobody had had any symptoms or anything. And so it sort of went on from there. But they didn't actually diagnose us with Alports. But I'm going back oh, well I'm 40 now and it was, I was still at juniors. So it was way back. And I don't think that they were quite as aware, or it must have been a fairly new thing. So they always put it down to us just, they sort of put a blanket diagnosis of nephritis. So we went through all just normal, just routine check-ups every twelve months, everything was normal and going on perfectly fine. Now, I do remember when I was just started working, so I'd be late teens, early twenties, they did call us in to the hospital. And we did tests like on our eyes, our ears. And it was like a day of being like a guinea pig, and all these tests. But because we were young and not, you know, you don't think, do you? We just went ahead, and they sort of said, "Oh, we haven't found anything untoward." But we never really questioned why they were doing it all. But, so everything went along hunky dory. Then I ended up having my eldest child, and didn't think anything about it. The, the consultant at the time did sort of congratulate me on carrying him full term and having no problems. Because they had to induce me because, I'd forgotten about this bit. They did induce me because the blood and protein went really bad. And they say it's very similar symptoms to, what's it called?
Hypertension, or?
No, I were gonna say it then. What's it called, when you're pregnant and you have to -
Oh, pre-eclampsia?
Pre-eclampsia, yeah. So they didn't know if it was my kidneys or pre-eclampsia. So I was induced when I had my eldest child. And so the consultant never mentioned Alports or anything, and I just, you took it as normal. Now when he - So I didn't have him tested, didn't think anything of it. But then when he got to year 2, I started to notice that his hearing was failing. So I took him to the doctors, and they went through all the tests and everything, and eventually they did say, "Yes, he's got, he needs hearing aids." So, carried on. Didn't think anything of it. But when I kept going back to the consultant, they kept saying to me, "The type of hearing he'd got, it's like something that you would pass through families maybe, because it was nerve damage, sort of thing." And he kept saying, "Is there anybody in the family that's got hard of hearing?" And I said, "No, nobody." And you just thought 'oh, that was strange'. And then I sort of then, I don't know why, I was just sat there one day and it flashed back to when we went to the hospital to have all these tests when we were younger. And I then, that's when I contacted the doctors and I said, "I don't know what's made me think, but I've never had him tested for the nephritis, could it be connected?" And it just went from there. And that's how they found out. They did his, they did a dip test in his urine and said, "Yes, he's got blood and protein." And it just went on from there. And they all put, well I put two and two together, and that's what happened. And then I had my youngest son checked, and they found out that he'd got it as well. And then my sister had her two children checked. Now, her daughter's got it but her son hasn't, so. And that's how we found out, you know, what it was and where it had come from and everything.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.
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.
People spoke about getting a diagnosis confirmed through genetic testing. For Michelle, it was only when her daughter went to a genetics appointment that autosomal recessive Alport Syndrome was explained to her for the first time. For some, the diagnosis provided some sort of relief and a confirmation of earlier suspicions. Karen said her family had always suspected they had Alport Syndrome in the family, but it was only through genetic testing that this was proven.
Alan talks about getting a definite diagnosis of Alport Syndrome through genetic testing
Alan talks about getting a definite diagnosis of Alport Syndrome through genetic testing
How did you, when did you find that all out, about your family members having Alports?
Well they, they had kidney problems at an early age, but we didn't know it was Alports. And I, my mother wanted to look more into it, rather than just getting along with it. You know, accepting it. She wanted to look into it. Because I think that, you know, they just say polycystic kidney, but I think the research back then wasn't as efficient as what it is now.
It was my mother that really, you know, got things on the ball, you know. Because I was under the [Name] hospital, the genetics team, then got in touch with us. I think, I'm not sure whether they tested my sister. Because my sister had - I think she'd be a carrier. She's got no children. But I think she would be a carrier. So it was for my sister's concern as well as mine, you know?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.
Several people we interviewed described how their kidney function deteriorated over time. Frequently going into renal failure was described as “a massive shock” and a “scary time”. Sometimes this happened when people knew they had Alport Syndrome, but other times this led to a diagnosis.
Richard explains how he missed appointments but felt fit and healthy. He then became ill and was shocked to learn he was in renal failure.
Richard explains how he missed appointments but felt fit and healthy. He then became ill and was shocked to learn he was in renal failure.
So I was called in to see my GP. And his first words were "I need to take, send you to hospital, refer you to hospital. Now." He said "You've got renal failure." And I was, 'okay'. He said "The blood test that he'd done, sent away, came back with renal function at eight percent." And he'd only just got the results back from the bloods. And so I was - I guess I felt fine. Maybe looking back now, I think that it could have been such a slow steady decline that naturally by body's become used to how I felt, and that becomes the new normal. So, shock. Massive shock. And feeling a little bit sorry for myself, but also guilty that I'd not followed up my clinic appointments yearly, because there may have been something that could have been done to decline that, reduce that loss of function. Because the only thing I was told at my initial visit was that with Alports, you're expecting around about 50 years old to start suffering from problems. And that's - the guys at the hospital, that's all they'd ever seen people with Alports, in their fifties, that's when they had problems. And so that's probably why I had this feeling of 'I'll be okay until I'm 50 and then we might have to take some tablets'. Obviously it's not the case. Alison describes her shock when she was told she had renal failure and would have to start dialysis.
Alison describes her shock when she was told she had renal failure and would have to start dialysis.
Yeah. So they didn't know for sure whether it was Alport syndrome, but they thought it probably was. And it wasn't until around about 2010 that they got the definitive diagnosis of Alports. So I was told information about that. And basically told that it's more severe in males, and that the males tend to develop renal failure in their twenties, and they can go blind and deaf. But females tend to live a normal healthy life, which is controlled by taking medication. So I wasn't worried about it at the time, thought I would have a normal life, and just take - you know - keep taking the medication and I'll be fine. But just over the years my, my kidney function's started to deteriorate. And then in sort of 2009 it was deteriorating faster, and I was seen more regularly at the renal clinic. So that was a pre-dialysis clinic. And then in- trying to think of the years. When I was around 27, my kidney function - the eGFR is what they, they measure to tell you how well your kidneys are functioning. It was dropping. And when I was around 27 it got as bad as five. And that's when the - it all came out of the blue. The consultant phoned me to say "We'd like to book you in for an operation next week, to have a catheter inserted into your abdomen, to start you on dialysis." So it was all a bit of a shock. Because I felt generally well in myself, I was still working full-time, I had a part-time job - I was working two jobs, saving a deposit for my first flat. And I was still going to the gym, and had a social life. So I felt I was managing fine. So it was, yeah, it was all quite a shock when they told me that I'd have to go into hospital the following week and be started on dialysis.Michael Y describes putting off getting tested and his surprise at being diagnosed.
Michael Y describes putting off getting tested and his surprise at being diagnosed.
So, yeah. I got a dip test done, it was nine in the morning. My doctor was like "Oh. Can you come back in a couple of hours, or an hour? Because that's when I'm free for an appointment, and we can do blood and urine samples." So I just went away, started drinking lots of coffee in between the wait. Didn't realise that that would just shoot my blood pressure up as well, which is not something you want to have as soon as you get tested for an illness. But after the diagnosis I was referred to the hospital and the renal facilities there, where I met [doctor], and he sort of - it's who I see now every, pretty much every three to six months, I guess. So they, they got me started on the Lisinopril. Was it 2.5mg first? And then 5mg, then 10mg. And now I'm on the 20mg, and I think I'm on that, and I don't know if they'll put the dosage up or anything. But I'm reacting fine to the medication. I lost a bit of weight since starting medication but I don't know if that's relevant. Frances remembers the day she got the letter confirming her son’s diagnosis.
Frances remembers the day she got the letter confirming her son’s diagnosis.
Just sent me a letter in the post saying that my son had Alports. Yeah, "We're very sorry to confirm." And I just burst into tears. You know, I just remember that. I remember standing in the bottom of the hall screaming, as if somebody had killed you or something, and like just screaming and screaming, and [my partner] come running in "What's wrong?" You know? Thinking - and I just couldn't speak. I was just hysterical. But I thought that was really bad, to just send you a letter. And after it, I thought why did they not call you in? And then they could have explained it to me, and spoke to you about it and kind of went through it. Because getting that through the post was, I certainly don't think would be the right thing for a family, I think the right thing to do would be sitting down and have somebody there to talk to them. You know, like a genetic counsellor there, for when you're gonna actually - rather than saying 'if you need any help, please contact this number'. And you're like 'oh, aye'. Because I'm really in the right frame of mind to speak to someone about what I've just been told.
Sometimes people’s experiences were different to what they had been told to expect by healthcare professionals. This was the case for those like Alison and Angela who had been diagnosed and labelled female ‘carriers’.
Angela describes being diagnosed with Alport Syndrome but feeling confused when her kidneys started to fail.
Angela describes being diagnosed with Alport Syndrome but feeling confused when her kidneys started to fail.
Michael X who cared for his late wife Sal with Alport Syndrome, remembers the first home dialysis machines and early treatment for Alport Syndrome.
Michael X who cared for his late wife Sal with Alport Syndrome, remembers the first home dialysis machines and early treatment for Alport Syndrome.
Ah.
And when you look back, okay it probably was pneumonia, but it was caused by renal failure, which nobody knew anything about, you see. That's our guess. So it as quite a shock to discover within a couple of years of marrying my wife, dear now departed Sal, that she had this dreadful disease. And it was right at the beginning of the development of both dialysis and later transplant. And she had to undergo dialysis in [hospital], for the whole of the first year of her renal failure. And I drove over from [place], because I was a very busy young, new young consultant, fully occupied on-call every other night, and quite often every night [laughing]. So I couldn't come, except to come quickly and then go back , with the registrar treating the patients meanwhile, and see her. Because it was agonising. And I had the two young children, which had to be looked after. They were aged I think 5 and 3, or something like that, when she developed renal failure. So for a year I had various lovely assisters - my mother, helpers, nurses, coming in, because I was totally busy being a surgeon, but coming in and helping both at night and at home. Whether I was there or not, to look after these two young children. So it was a difficult few years. And then after one year, a difficult first year - after one year, very happily they had begun to develop - and we were one of the very early ones, probably not the first, to have a home dialysis unit. Which we had installed. And I think it was very experimental in those days, but the wonderful [place] renal team came over with a van filled with stuff, which they installed in our attic, in our home in [place] in [county], where - which was my first home with Sal. Which is an old [place] house, but the attic was just an open space. And we had to insulate, and various tiles used to drip water so we had to get it properly lined inside [laughing] to keep the water out when it was raining. And we had one bit of the attic made into an upstairs home dialysis unit, where they installed a mobile kidney. And the first one was a kidney which Sal and I used to make. It was in the days before there was a chuck-away artificial kidney unit. You had to put together the cellophane sheets on a plastic sheet, and you had the patient's blood come from a, short-cut between the artery and the vein, where you put the dialysis needles in, and that blood went out into the machine and then came back to the, through the, to the venous end. And at the other side was the dialysis machine putting in the dialysis solution against the blood. And that was in a giant - have you seen them? The old-fashioned kidney? Yeah?
One of those in our home. And we did that three nights a week. So we'd get the children fed, and get them to bed at - well, we hoped by about seven or eight, or something like that. And then get Sal upstairs. And I used to put the needles in. Which meant that happily the one - and I think she only ever had the one - what's the word for the short-cut?
Fistula?
Fistula. AV fistula. And so being reasonably surgically competent [laughing], I did the bit of local and put the big needles in. And we were always able to use that same one fistula, because I used different bits of it and was careful with it, and all the rest of it. And so it went on for ten years, which was simply wonderful. And then along came the first family transplant. Whereby from a donor, I can't remember the detail now. She had her first transplant, which was an absolute dramatic and wonderful breakthrough. And it lasted ten years. So she had ten years dialysis, and ten years single transplant. But it failed at the end of that, and she had another six years. So we're now at twenty six years, the second transplant shrivelled and failed. And it was sort of alright, and it was sorted out, but her general health rapidly declined. Particularly from a cardiovascular point of view. And not too long after that she died of cardiovascular complications. So that we - that became the end of her life, which was sad and troubling.
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