Right in the beginning, it was my sister. And the, she had to go to the hospital for like just a routine test.

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.

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.

It wasn’t until the mid eighties that I had genetic counselling, at the [the hospital], when they found that with my, my family presence – my sister and my mother had Alport syndrome. So as I say, that was in the eighties. But right up until then, we didn’t really know, you know. My kidneys failed at the age of 19. So I went on to CAPD dialysis.

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?

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.

I bought a house, started working full-time, and I missed appointments. So for about four years I went under the radar without knowing what had happened. I was fit and healthy, I played football, sports, I ran. Not a problem. I was fit as a fiddle. And then in 2011 I’d been to India with work. Came home. Felt a little bit groggy, thinking it might have just been something I’d eaten. Went away for two weeks on holiday. Somewhere nice and sunny. Came back. Felt groggy, and had headaches. Then I just felt run down for about two weeks, and I was thinking it was the effects of holiday, quite a bit to drink, lots to eat. But I went to my GP because of the headaches. They tested my blood pressure, it was about 160 over about 80 or 90, which they said was high. And took some bloods. This was beginning of the week. And then every Friday after work, I would with friends, I’d go and play a little bit of five a side football from after work, say six o’clock. And I was playing football, I was running around. I was really out of breath and sweating. And it was like ‘this is, this is weird. Just over-indulgence for two weeks away. And I stood there, trying to catch my breath, chasing old, old blokes around – blokes who were twenty years older than me, thinking ‘this is not right. And I looked, and I could see someone familiar coming across the car park, and it was my Mum. And I was like ‘okay, this is a bit weird. And she said, “The GPs have been trying to ring you all day.” And they’d not been able to get hold of me, trying to ring me at home. They’d finally phoned the other number they had, which was Mum’s. So she said “She wants to speak to you now.” So we got in the car, and just thirty seconds down the road, pulled into the GPs. Sat there for a minute or so, and then was called straight in. And Mum was “I’ll come in with you.” And I said “Ah, you’re okay.”

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.

And so can you tell me what happened then after that, the sort of biopsy?

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.

So it was early September last year. So, 2015. And I actually should have been diagnosed pretty much when I was born, because – well not when I was born, because my Mum was diagnosed in 1996. So, since it’s hereditary, the process should have started, where it’s like “Okay, your kid should probably be checked now” [laugh]. But obviously I put it off until I was 24. And it was after years of my Mum being like, “Go to the doctor, go to the doctor, go to the doctor.” And then I finally went. I don’t know why I took so long, it was quite foolish, but-. And then it was just the dip test that they do, to test for it. So the stick changed colour, and it was like nine in the morning or something, and then that was just like [groan] [laugh]. Like not speechless, but just kind of surprised. I knew it was hereditary but I kind of thought – because my twin sister got diagnosed a couple of years earlier, and she was fine. So I was like [groan] [laugh] my twin is fine then, I was just – my brother got diagnosed as well, and he’s fine. But-.

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.

He was – this was during the summer, so he was about eight months. Because he was the fattest wee baby in the world. He was just the cutest wee thing, he was just like this wee fatty, just pretty cute. And every time we went they were like “There’s no way we can get blood off him.” Because his wee arms were just like wee chunks, and then his wee hands were all – and I was like “No, you’re just not gonna, really.” And then that’s when they said “Oh yeah, it’s alright, we can do a wee swab, like a wee cotton bud kind of swab in his mouth.” And then when it come back, and it come back it was my birthday. Always remember that. I was like ‘well happy birthday, thanks. Going to door, and you’ve got a letter to say that. And I thought that was quite harsh as well, that they didn’t call me in to tell me that. They just sent me a letter in the post.

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.

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

When I married my wife, all those years ago now, we had no idea that she was carrying the Alports gene. Because the only evidence for it came from not her mother, who had no sign of the disease but was obviously a carrier, but from the male antecedence of her mother. And when we subsequently discovered that poor darling Sal, my wife, Sally had got the disease, we obviously looked back at the family history. And my mother’s male relatives – several of them, quite a few – had died in their teens or early twenties. And the diagnosis at the time was pneumonia.

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.