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.

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.

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.

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.

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.

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 offor 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.

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.

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.