It’s that whole debate of how much knowledge is helpful, and how much isn’t. And I think it probably largely depends on what kind of person you are, and how you feel about things.

It’s a very individual thing, isn’t it.

Yeah. As in like I know that I remember when my sister wanted to kind of drill down more into what’s going to happen and why, and like basically know. And I’m probably slightly more on the side of just get on with it and see what happens, because – you know – I’ve always thought lots of awful things could happen to you anyway, and there’s no point thinking about that all the time, otherwise it’s a bit depressing [laughing].

So you have to kind of like deal with point where I probably have – I generally think you have to deal with what comes up. I suppose the only thing – again, it’s like that thing isn’t it, there’s things you can prevent. Which is why I think the new studies are interesting, because if it is true that ACE inhibitors protect your kidneys, and so that sort of preventative measure should then – actually, that made me – when I heard that – which was actually at Alports UK conference, not this year, the year before.

Well we go a lot of information from the Alports, the Alport UK charity information day; we went to that last, this last winter, last January. My husband and I went with [my son]. We hadn’t told the children anything at that stage; we hadn’t actually told anybody anything apart from my parents I think and my sister who babysat for us that day. Nobody else knew about [my son’s] diagnosis at that stage, so we went along to that and I was really worried about it, you know I was really nervous about what we were going to learn and how distressing it was going to be and, you know was it, you know it’s just hearing about what my, my boy was going to have to go through. But it was, it was fantastic, it was the best thing we did because we got lots and lots of updated information; we made some contacts; we talked to some people who were incredibly reassuring and, you know we talked to people who’d been through it. And actually it’s the first time that I’d introduced [my son] as somebody with Alports who, it’s was the first time I was actually able to say it and it was really useful to also to meet some families who had made the same decision that we’d made and to feel that, you know we could discuss that and nobody was going to judge.

As soon as I got diagnosed, that’s when I started diving right into all the research and stuff. And because it’s kind of on a case by case basis for each family, it was kind of like – you know – one thing was like you’ll be dead by 40, sort of thing [laugh]. Which was like, looking at my family, no one really dies at 40 in my family especially. Because if you get diagnosed, there’s at least some form of treatment, and things like that. Also the progression of gene therapy as well, that’s something that’s interesting, and is coming up time and time again on the news and stuff, where mainstream bodies are getting funding and permission to carry it out. Lots of gene therapy, so. I don’t think the future’s bleak or anything like that, it’s always gonna progress scientifically.

If there’s something – or just, you know, if I forget anything to do with Alport syndrome, or just want to try and find other people’s experiences of it, then yeah. I still google at least sort of a couple of times a month. I saw in the United States there was two twin boys maybe, who were both diagnosed with Alport syndrome, but had been misdiagnosed with whatever illness the doctors believed they had, for a number of years. And it wasn’t until they were I think in their late teens when they started going through kidney disease. So I still Google, just to make sure like, to look at the differences between my family, how it affects us and how it affects other people’s family. Because as I said, I think we’re quite lucky that it’s quite late in our – well not late in our lives, but later than some other people, when it starts affecting us. Because I think my – I think it was my Mum’s grandad who was a medic in World War II, and he died when he was 30 from it. So I think that’s sort of our benchmark of treatment. Like in you have to get treatment before you’re 30, or else – that’s when it might kick in. But I think my cousin’s been on the same – I think the same sort of ACE inhibitors as me, for a long time. And I think [doctor] has used my cousin’s sort of data in his research. And it looks as if the medication is sort of prolonging the time between well, the initial diagnosis and when your kidney functions start to fail further.

I think I do get stressed about things. I can’t say I don’t. I do get stressed. But [sigh] I don’t know. I don’t know how I deal with things, to be quite honest [laughing]. I think I just take note, and I maybe – I need to look into things further, and find out a lot more information. And it’s there, it’s always there. And I tend to be the information person. Because like if any of – I’ll get a member of the family saying “So, what is this? And how does this work? And what does it?” You know, they don’t really – and maybe they don’t want to look into it. Or, or kind of like ‘no, this isn’t happening. You know? This – that kind of way. Where I’m like “No, this is happening. And this is what’s gonna be, down the line. You know, this is the way it’s gonna be.” Maybe that’s my way of dealing with it. And maybe when it actually happens I’ll fall apart. Who knows? Who knows? It’s, it’s – we’ll not know ’til it actually – I don’t think I will. I think I probably will crumble to bits. But I think I’ll probably be the strong one that’ll be like “Right, come on, this is happening. This is what needs to be done, and.”

Yes, I did. Yeah. I went to look it up, yeah. And I don’t think that was a good thing to do, really [laughing]. Not on the – you know – the places where I looked. It was a bit, I don’t know. It wasn’t very positive. And it, I should have just listened to the consultant, and he said, “Look, just take it a day at a time and, you know, see what they find out.” He says, “There’s no point worrying ’til we get a diagnosis.” And he says, “And when we get that, then I’ll talk you through it.” But when you read things on like Google and things, it’s not always positive, is it. And then I have found that the experience with it, and what they said – although they did, they have said what could happen, living with it, it’s not as bad as you think. You know? Because he hasn’t, they haven’t got kidney failure yet, and they’re bouncing about. And people that see them think ‘oh, there’s nothing wrong with them. Because as it stands, they’re absolutely fine. And, you know, playing football, riding their bikes, you know? They’re perfectly okay, yeah.

So the information on the internet was quite negative, then?

Yes. Because it, it told you – it told you everything that could happen, but it didn’t say all the good. That it, you know, chances are it may not. And look positively. And things like that. It, you know, [laugh] it didn’t come across like that. And you’re in like a bad frame of mind when you’re looking at it. And I think your mind tells you, ‘oh, it’s gonna be all bad’, you know? Yeah, so.

What sort of things did it say then, on the internet?

Well, it said things like that they know males get the worst symptoms. And that they get hearing loss in early teens. Well because mine had got the hearing loss at infant school, I was thinking ‘oh, mine have got a worse strain than everybody else’s, because it said early teens and mine have got it really early, the hearing loss. And then it said by the age of 25 they’d have kidney failure. So I were thinking ‘oh, well because mine got the hearing loss early then they’re bound to get the kidney failure earlier. And it was just things like that that frightened me, because it could have said, “Sometimes you get it early.” Because when I did say that to my consultant, he says, “Oh, it doesn’t necessarily mean that the kidneys are going to get worse, just because the ears have got worse.” So it was things like that. Yeah.

I’m hoping it’s changed. So, in about three years ago I Googled Alports just interested in the same way you Google your name or whatever. And the sites there it was a lot of like unofficial forums that were just spouting rubbish about it, just, just, just stupid stuff. Like painting Alport, it was something like, ‘Alport a life changing condition. Like it’s not, it’s really not; it’s something that you can deal with and it’s something which doesn’t, in the grand scheme of things, it’s not limiting; it’s not, I don’t think there’s any reason to be scared of the condition and I think a lot of online pages dramatise it and they make it something that you’re fighting day after day and ah isn’t it impressive that this guy, you know, he’s got through it and he’s got like no. You know it’s, it’s not a big deal, at least in my opinion.

And you’re quite an advocate of looking on the internet for –

Yeah, try and search out, but look – the NHS website is, for any sort of renal problem, is quite good. Anything dot gov. Be careful of being lured into anybody trying to sell you a cure, or a save, or eat some turmeric and you’ll be okay. Yeah. I looked at them to start with, and then realised that if something – if that’s, if that was true, then the NHS wouldn’t be spending millions and millions on renal medicine each year. So, go to places like Alport UK, find out when the next meeting is. Go along. I went along, not really knowing what to expect, and there’s such a good mix of people. People who’ve been transplanted, people who are – kids have Alports. People who are, who certain stages of renal issues, or kidney disease with Alports. So you’re gonna meet somebody who’s in a similar situation to you, possibly locally to you as well. I went to one about two years ago, we got information on – for my daughter, or who was on the way. But in a year or so’s time as she’s a little bit older, we could probably go along. Been told there should be no concern in these early four or five years. And about five – four or five – they might start taking blood. But in the meantime if they notice anything, to do that. So for me, it’s that. And then there’s a few people who’ve had transplants as well. And looking to try and see people who’ve had transplants for twenty years and thirty years, and forty years. But it’s so uncommon that it’s difficult. Or people have had transplants maybe because of Alport, I don’t know, they’ve just had shrivelled kidneys, or it’s been diagnosed as something else, so. I’d just say to do that. Get as much information as you can.

You do get things from the hospital, but it’s your basic information. I think you’re supposed to use that to go and ask questions when you go and see the doctor again. But of course I just got online and researched everything I could. So a few questions – I had pages of questions when I went back in. But it’s great, because the more you can find out, I think the easier it is to cope with, when you know the ins and outs and everything. Worst case scenarios, I researched that as soon as I found out about it. And I knew exactly what was gonna happen, when it happened. So when they said to me “You know, in the next few months you’ll have to go on dialysis.” It was like “Oh, gosh.” Bit of a shock. But I researched it. And then when I went in on the day, he said “Right, now’s the time you need to go on dialysis.” I was fine. You know, I was like “Right, okay.” Well, I knew that was coming. And it just – you know. And everybody says that’s quite surprising because – even my doctor was surprised how well I took it. But I said “Well, I knew it was coming. It was inevitable, sort of thing, so.”

I’ve always said that they do keep you in the dark, sometimes. You know, renal consultants and things. But I think – I don’t know, as a youngster I used to think maybe because they just want you to get on with your life and they don’t want you to look. I was always, as a youngster and now even, very analytical and want to know. So I read things. But contradictory to what I said to you before, I don’t wanna know too much information, no. Because, you know, the impacts of having too much knowledge in that respect can be, you know, a bit depressing, so.

Well to be honest with, with the nephrologist, I’m indifferent because they didn’t know any better. When it came to finding out that my GP had failed to notify me of changes in my blood that showed that I was critically ill, I was very angry.

For quite some time.

But I managed to kind of channel that into something else cos I also had to be well be a father – and you know actually get through the whole process of dialysis and transplantation which really were more of a problem than the anger I felt towards my doctor.

So yeah but nothing came of that. I made complaints to the correct authorities and, yeah nothing came of that in the end, so that is quite rage inspiring but not much can be done about that really.

Well he knows my cousin, because he’s who he sees at the renal unit, I think. So he also knows my Mum, I think, just because our family’s so well connected within the Alports world [laugh]. But he’s very lovely, he’s very knowledgeable about it all. He seems quite excited by the new drugs and everything. It was his sort of typing up of Alport syndrome on the hospital website that I read. And then I saw him, so I was like ‘oh, I can put a face to like the research that I’ve read, and things like that. And I think he does do a lot of the Alports days things around the UK, so. It’s quite nice, because Alports was discovered by an Edinburgh uni graduate, I can’t remember when, in –

Cecil Alport.

Mmm, yeah. In 1927 or something like that. So, coming from Edinburgh and being diagnosed with Alport syndrome, it’s kind of like you know, a little bit of history [laugh] in itself. But [my doctor’s] really nice, I really like him.

And you mentioned about your support, having a really good network of family, and sort of friends, and you think that’s the main – do you feel like you can sort of talk – do you talk with them about your sort of emotions, and?

To a certain extent. But there was a lot of things that they just wouldn’t understand. So what I tend to do is I’ve joined a forum. Which I log onto, and it’s for people worldwide, and go in, and you can search for a topic and see what other people have said about it. I’ve also met – or not met in person, but there was somebody who added me on Facebook who had read about me on the forum, and she also has Alports. So she got in touch with me to see how I managed, just to find out when I was diagnosed, and – so, she’s not started dialysis yet, but they have said to her that it’s on the cards, so. So yeah, it would be – it’s, so yeah, there are certain things that you can’t really discuss with friends and family. Or you could, but you want to know how other people’s – other people are coping with it, but. You know, so I tend to go onto the forum for that.

And how do you feel? Do you feel like you’re helping other people then, by doing that? And because you’d been supported, and?

Yeah. I was able to write a huge paragraph on everything about it all, you know, and how – how, how old I was when I was diagnosed, and whatnot. And she was concerned about going on holiday, because her husband I think was from [place], and would she still be able to go and visit his family? So I was able to, you know, reassure her. And she did say, you know, “Thanks, it’s been really good, and helped a lot.” So yeah. It’s good to be able to help other people. I’ve also given talks over at the hospital on pre, pre-dialysis talks to – you know – patients who are coming up to the stage where they’re gonna be put on dialysis. And I’ve done an actual exchange in front of them, so they can see what, what happens when they do that.

Yeah, do you feel that – is that something quite important for you to connect with other people who –

Definitely, yeah. Because you, you might know that you’re going to see your GP, your renal consultant next week, but there might be something playing on your mind and you think well, I just want some reassurance that other people have gone through that as well, or had these symptoms, and that it’s nothing to be worried about.

Yeah, do you sort of ask questions about symptoms? What sort of things have you talked with other people about on social media?

When my hair started falling out, that was the one that I went straight onto social media about. And it was quite a relief to find out that I wasn’t the only person that had happened to, and there were others out there that had gone through the same thing. And they hadn’t had it explained to them that this medication, you know, this is a side effect. Because I remember telling, speaking to my GP about it, “My hair’s falling out all of a sudden.” And him saying “Oh yeah, that is a side effect.” Well, it would have been nice to have been made aware of that, so it wasn’t such a shock when it happened. It was just one day in the shower, just chunks of it all coming out. This isn’t normal [laugh].

It’s the people that’s, it’s the people that are going through it. You can read every book under the sun that advises you of something. The best people to speak to about Alports is the people that are living with it. Because then they can see well yeah, this does happen. Or, well it doesn’t necessarily happen to me, but yeah maybe I know somebody that’s got it that it has happened to, and things. People kind of advise you of things, but you’re – the best advice that you can receive is someone that’s actually going through it. Who knows what you’re going through yourself, you know?

So have you found that more useful than GPs and?

Yes. To be quite honest, yes. Well, it’s a difficult one, because the GPs have got the medical side. Where we have the symptom side [laugh]. Or dealing with it side.

They, they – they’re the ones that can advise you on, you know, what’s the best meds and things like that. Or if they’ve came across things that, you know, other people maybe not know about, the kind of scientific medical kind of side. But the, the personalisation and the kind of symptoms of certain things that comes along with Alports, it’s individuals that are dealing with it that you’re best speaking to regarding that. Definitely.

In terms of transplants and information about Alports I’ve had it a lot from my mum. As I said the Units have been very helpful as well. Something I’ve found very interesting has been our support page for our Alport network. Something I found really interesting has been our support page for Alport which is, I think, called Alport Warriors on Facebook. It’s a bit of a twee name but the people there you know, you have, not only do you have researchers; you have doctors etc. and people that are all different stages of Alports. So, they have, you have people that have had transplants, that are on dialysis, they are just about to have it, that haven’t even really been affected yet because, or someone that, and mums of kids that have Alports for example. All, the whole range there and that’s super useful for information about the condition.