And just going back to when you first had – because you said it was in your urine, was it, that you –

When I was pregnant, yeah.

Can you tell me what happened then? Because that was really the first indication for yourself that something wasn’t quite right.

Yeah. Wasn’t quite right, no. It was just – obviously when you’re pregnant you need to get your urine tested, and they had said that “Your protein’s very high in your urine.” And I was like “Oh right, okay.” And they were like “So we’re just gonna keep an eye on your blood pressure and things, and just keep testing your urine. I said “Right okay, that’s fine.” I think they were concerned it was pre-eclampsia. And I was like – never even clicked, obviously, that there was anything else that was going behind it. Just thought that it was my body dealing with pregnancy. And then obviously used to get me to do a 24 hour containers, to obviously collect my urine in, and things like that. And then they took me in when I was about 31, 32 weeks pregnant. And said to me “No, we’re gonna give you a steroid injection to bring on the child’s lungs, because we’re just not happy about how things are going.” And I wasn’t too sure if they thought – I wasn’t too sure at that point if they were thinking pre-eclampsia is definitely on its way, because of the protein in my urine. And they were just waiting on, you know, the blood pressure, the swelling, the other symptoms that comes along with it. Or if they were thinking something’s going on with her kidneys that we just – they basically said “We don’t know what’s going on. We’re not sure here, what’s – and we need to wait until after you’ve had the child, to test you. And then try and work out what exactly – maybe your body doesn’t work well with pregnancy and it’s affecting your kidneys.” And I’m like “Oh right, okay. That’s fine.” So I just was going along with things, as you normally do. And then obviously they started me at 31, 37 weeks. They induced me. Because they still weren’t too happy about how things were going with the urine and things, and they were like – they just says it’s “You’re very peculiar, don’t understand what’s going on” [laugh]. And I was like “Right, okay.” So yeah, he came into the world. He did have some difficulties coming in, anyway. Which is other medical things, nothing to do with the kidney side. And so that was a worrying and stressful time. He had, I had strep B, and he had ended up with meningitis, and then they had found out that he was taking seizures, and he had bleeding in the brain. So they told us some horrendous things, that you know, he could obviously have – you know – he could have learning difficulties, he could be blind, could be deaf. You know, got to warn you basically everything. So it was a really, really stressful time. And he didn’t get out until he was five weeks. But nothing, not any of this involved the kidneys. None of this at all. It was just obviously these other situations that had come in.

And how old were you at this time?

I was 29. At that point. I was just coming up for – he was born in the March, and I was 30 in the October. So, yeah. That’s what they just brought me. And then they said “Obviously once you, you have him, then we’ll look into obviously investigating yourself and seeing what’s going on with the kidneys.” And that’s what prompted the two kidney biopsies to be done, to obviously have a look, to find out what was going on.

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.”

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.

Don’t be afraid to ask a question. Doesn’t matter how silly it sounds. If you want a question answered, ask it. Or go onto the local sites that’s been created to help people out there. Speak to somebody that’s going through the situation. You can ask your medical doctors the questions. And yeah, they’ll tell you what they know medically. But ask someone that’s going through it. And you’re not alone. Because you do feel – you first of all get diagnosed and you’ve never heard of this condition before, if you don’t know anything about anybody that’s – because there is folk that for some reason haven’t got it. They’ve never heard of anybody in the family getting it. So this is a big scary thing. They’re like, “What? Alports? What’s, that’s that?” I had it in the family, didn’t know that much about it. Because it wasn’t affecting my immediate family, it was affecting relatives that obviously I know of, and I knew what they had been through. But I suppose as well you don’t want to ask them questions about their condition, because you think it’s rude, it’s rude to ask somebody a question about it. “So, what – what is this? How did you get this?” You know, “What is it? What did the dialysis mean to you?” I remember going into my, my Mum’s uncle’s house. And I remember the machines being there. And I was obviously younger. Maybe about 12 or something like that, 10. But I remember not asking questions. Nobody talked about it, you know, and it was just – he was on this machine, didn’t know what the machine was, you know? And it’s not ’til you’re older that you realise what that machine was for. But nobody talked about it. So I think nowadays people are more open about things, to talk about things. And don’t be, don’t be frightened to ask a question and think to yourself ‘mmm, don’t really know if I should ask this, because I don’t want to put – you know. You can ask questions on Facebook nowadays and you get all these negative opinions for certain sites and things like that. But that’s not what Alports – the Alports UK one is about. It’s never a silly question. We just go on and express how you’re feeling. If you’re having a bad day, go onto that site and just – the Facebook account, and just say to them, you know, “Just needing a wee bit of help here, guys – can you answer this for me?”

But apart from – no, I feel okay. You know? I really can’t – and I think my son does as well, generally. Does, does suffer quite a lot of headaches at times, and I have mentioned this to the consultant, saying “You know, he really does have really bad migraines.” Touch wood, he really hasn’t had them in the last couple of months, but there was – I mean, I’m going back since he was first diagnosed, that – you know – once a week, twice a week, he was having these severe migraines, that I had to actually pull over the car, and he was vomiting out of the car, and. He has to go to his bed and sleep. And they were saying, you know – they’d sent us along to the consultant saying “Well could it maybe like something that he was eating, or? You know, just keep a wee note of what he’s eating, like that.” And there was nothing different from any kind of normal, so like that. I had went onto the Alports UK Facebook page, and basically just put on a wee status, just saying, you know ‘my son’s been suffering with these headaches, and it’s really quite concerning because they’re saying it’s not Alport-related, and there must be something wrong, I don’t understand – you know – why this is happening. And someone come forward saying it could possibly be the medication, and that maybe you need to think about changing the type of medication. So I had went back to the consultant and said, you know, “I put this on the Facebook page, and this is what had come back.” And they were like “No, never heard of that.” And “Well, we’ll monitor it and we’ll keep a wee eye on it.” And things like that. So, don’t get me wrong, I think different makes of – he’s on enalapril. And I think different makes, different manufacturers, there is different taste to the medication. And because he can’t swallow tablets, he used to crunch them. So some of them were absolutely disgusting, and it was really hard for him to get it. So we kind of stuck to this certain make that he, he didn’t mind the taste. So I was kind of thinking ‘well maybe, maybe we just need to stay away from that make, he’s a wee bit older now, I’ll just need to say to him well get it behind you, you’ll be fine, get a drink of water you’ll be alright. So now I don’t kind of restrict on that type and make of the manufacturer.

Basically they lie you flat on a bed. You’re facing down on a bed. At that point, the very first time that I got my biopsy, my blood sugars had dropped, so I actually thought I was – I got very hot, and felt very dizzy. I’m not great with needles, I’ve got a needle phobia anyway. I have got a bit better over the years, but I didn’t really know what the biopsy entailed. So I was in this kind of like dark, darkened room, with everybody all around the bed, and lying flat. And obviously I’d got myself maybe worked up into a state, and before you know it, they had to tip the bed, and – you know – try and put my head down, and get a cannula in me, to get some fluids in me. So it was a bit of a [makes a whooshing sound], the first time around. But they do freeze the area obviously, that they’re – the kidney – that they’re going into through the back. But it’s not, it’s not a nice procedure. Obviously they are putting a needle through your back into the kidney, to take a sample of it, to send it away as a specimen. And then obviously once you’re, you’ve went through that procedure, then back into the ward, and you’re lying in your bed for 24 hours and you’re not allowed to move. It’s obviously to try and reduce the risks of losing the kidney. Because if you’re going in doing this to the kidney, then there’s the chance, there is a risk of losing it*. So you’re not allowed to move for 24 hours. And that was horrific.

So you’re on your front?

You’re allowed to lie on your back, but you’re not allowed out.* And basically if you need to go to the toilet, you need to use a bed pan. Which, if anybody has ever experienced, is horrific [laughing]. And I, the – I think it was the second time around, I just couldn’t, couldn’t do it on the bed pan, it just didn’t feel natural at all. And I was in absolute agony. And I said to them, “Please, can you let me out? Please. I’ll be quick as possible.” And they says “You’re putting yourself at risk.” And I says “I can’t do it, and I’m in agony.” So eventually they let me out, and I went on a commode and got back in. And it was like ‘thank goodness for that. But I didn’t realise obviously, I was in a wee bit of pain after it as well, and I says to them “Is there, can I get any pain relief?” And I didn’t realise at that point that I was, I had a, and allergy to codeine. So they had obviously gave me some codeine, and then next minute I’m vomiting rings. So you can imagine, you’re trying to be sick and not move at the same time [laughing]. Wasn’t very pleasant. So, and the outcome of that, I now realise that I’m allergic to codeine, and I can’t take it [laughing]. So, yeah. It’s, it’s not a nice experience going through that. And it was quite scary, because I was in obviously a renal ward. I was in next to people that were on dialysis machines. And you’re sitting there thinking ‘is this what my future holds?’ And you were able to, you know – you were seeing all the wires and the machines working. And obviously it’s saving these people’s lives, these machines, and what a great job it obviously does for them. But I just – ‘oh, please, don’t let me ever need this. But it could be. That’s how things could go. And then it then made me think ‘this is what my son is gonna have to go through. Which is not a nice thing to think about. Three times a week. Or if it’s the home one, every night he’s gonna be into a machine. So that, that kind of – things, when you went to hospital to get investigations, or if you went to your appointments and you see somebody who’s in the process of all these things, it does bring it to life to you then, and you realise how scary it actually is.

*There is a very small risk of bleeding after a biopsy which is why doctors recommend lying for 4-6 hrs after a biopsy to reduce this risk.

Oh, we do everything together. We go on bike rides. We go on walks up to the local pond, and we’ll feed the ducks. We actually, we’re the Pan Piper, we go out on the bikes and we’ve got like five kids [laughing], not just ours – other kids from the estate. He invites his friends on their wee bikes. We go, and they – both of them like, they’re quite into army and war things. So we go a lot to the castles. We’ve got a kind of membership, that we can go to the castles any time – obviously pay for that monthly. So they like going to the castles and having a look at all the history. They’re quite into history, the two of them. I just go along [laughing]. I go with the flow. I’m like ‘okay then, day out. So yeah, they like going to the museums. We go to the aircraft museums, we go to air shows. They love going to their holidays. Bowling. Cinema. Just the usual kind of things that kids like to do, you know what I mean? Swimming, and all – all the things – there’s nothing that affects us. We don’t, we don’t stop doing what we like to do. We, we still do our normal things. The only time that it affects us if like we can plan for something, but if [my son] takes not well – or if he takes his headaches, then that can change things.

Did you know then at that point that there was Alports in the family? Or that you ?

I did. I did then, when I – Because I had told them when I was pregnant that my Grandpa had Alports. But nobody really – I don’t know if there wasn’t a good understanding of it, because it is such a rare condition. But it never – nobody kind of linked that this is possibly where I’ve, I’ve got this from, that it was a good chance I’ve , that I’d definitely have Alports. So yeah, no. Two inconclusive biopsies, and not until obviously my son was getting checked out for having urine infections that eventually one of the doctors had said “You know, I know you’re saying that you’ve had the two biopsies and it’s come back inconclusive, but I think we’re gonna take bloods just to be sure, to rule it out. We’re gonna, we’re gonna do this.” And I was like “Yeah.” And he says “Good chance it’s gonna come back and say no anyway, you’ve been tested.” And then opening this letter, and it’s saying that your son has Alports, was my whole world had crumbled. I was like ‘I can’t believe this. And I don’t know if I’d have been able to deal with it better if I knew I had it first. I don’t know. I probably wouldn’t have. I probably would have dealt with it in the same situation – it was my baby. And your, yourself you can deal with things – ‘right, I’ve got this, I just need to deal with it and move on. It’s heartbreaking as well for yourself, but you move on. But because it was my child, and I thought ‘I, I just can’t take this in. Obviously phoning family. And because my uncle, he’s got CF, and because of all the things that he’s been through, he was saying to me “You know, medicine nowadays – look at me.” He was trying to keep me positive. You know what I mean, “Look at me, and look how I’ve done, and – you know – don’t get downhearted about this, and things.” And you, you try your hardest not to, but it’s not, it’s not easy when it is your child.

He’s always – you know. And then it wasn’t until someone actually said to me “But he needs his Mum.” And I was like “Yeah, I need to start thinking about myself here as well.” Because it was just my – when, obviously I was more devastated about him than I was myself when I, when I first found about the Alports, because I thought ‘this is my baby, I gave this to my child. Rather than thinking about ‘oh, I’ve got this too, how am I gonna deal with this?’ It was all focused on him. But now obviously it’s kind of a bit mixed, when you go along to your appointments and things and they say that your kidney function’s dropped, and things like that, that you do think about what’s the future gonna hold? What is my life gonna be like in, you know, ten years’ time? Am I gonna be on dialysis? Am I gonna be looking for a transplant? You know, that’s – that’s very worrying at times. And there’s not really much answers that anybody can give me, it’s just a case of a waiting game to see. It’s like, I remember them saying one time “We don’t have a magic, a – a crystal ball, to look into the future.” But when you know it’s indefinite for your child, that’s hard to accept. At least with myself, it’s a wee bit like, ‘well, will it happen, will it not?’ But I know for a fact that it is gonna, that is the outcome for him. And that, that’s very hard to take in.

It’s hard sometimes. It is very hard. Because you don’t know what the future holds. You hope and pray that it’s – For myself, I suppose I hope and pray that I’m gonna be well enough to help my son. And am I still gonna be here to help my son? Because that’s I think to myself, I want to be fit and well, to try and support him through something that I know is gonna happen. I don’t have any control of this happening. It is definitely gonna go to that procedure, whether I like it or not. And I hope that I’m around to help him go through that. That’s a worry as well, because obviously it was always about him, and how – you know – oh, I need to think about him, how’s his future gonna be? And then obviously until somebody makes you aware that, “Well, you need to be here to help him through that as well.” And I’m like ‘well, yeah I suppose I do. So that, that itself is a bit concerning, that – you know – hope I’m still gonna be here to help him through. Which hopefully if I behave myself, and look after myself well, then I’d like to think it would be. But, who knows? Who knows? You just don’t know. But yet again, I always put him first. And it’s always – always thinking of him, you know, how is the future gonna be? Is he gonna be unwell? Is he gonna meet somebody? Is he gonna get married? Is he gonna have kids of his own? Then there’s that worry. You know, is he gonna pass the gene on to his own children? Which if he has boys, then we’re laughing. If he has girls, then it’s a totally different story – it’s a fifty-fifty chance. So yeah, there’s that as well, that you – in the future generations, this is gonna get passed on. And then he needs to think about that himself, when he’s got – if he gets a partner, and decide on children, and then – you know – he’s gonna be fit enough to get a job? You know, how’s he gonna do in career? And how’s he gonna do in school, and? What happens if it happens when he’s at high school? You know, how’s that gonna affect his education? So everything – everything is sort of a constant worry, I think, that you – you try not to look too much into it, but sometimes you don’t have an option, you have to think about it, you have to look into it, and you need to think ‘well, I don’t actually know. So, are you torturing yourself by not knowing, and wondering about these things? Or do you just try and live for each day and just be normal? Be a normal family, treat him normally. And if he does wrong, he knows he does wrong, he’s not wrapped in a cotton wool ball – he’s treated like a normal child. Yep, I feel absolutely devastated for him and I can’t believe it, but to us he’s just our son, he’s just normal. We need to remember that. And then people on the outside don’t treat him any differently, because they can’t see an issue. They don’t know. They don’t know anything. Look at him, you wouldn’t even know there’s anything wrong with him. He looks fine. Look at him, he’s fine. You know? And he is fine. He is. Until that day comes that things do change. And then your whole life changes. His whole life changes, our whole life changes. And that’s gonna be hard to take. Because obviously at the moment, you know, I work part time and I work around [my son] at the moment. You know, would I have to give up my job? You know, things like that. Who knows. I don’t really know how – if it’s gonna be the dialysis at home, depending on his age, or will it be – you know – having to take him to hospitals for the dialysis machine three times a week? You know, even the thought of that, you know sitting on a machine for hours. You know, is he gonna be well after it? You know, is it gonna affect the other days that he isn’t on a machine? All that kind of worry, I suppose. You just don’t know how the future’s gonna hold. So sometimes it’s easier not to think about it, and live for day to day, than dwell on it too much and try and ruin the good times that you’ve got.

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.

We take a day at a time. And when I speak to people, they say “Oh, look at him, and look at you, you wouldn’t really know that there’s anything wrong.” And I’m like “Yeah, because things are good just now.” I says, “But at one point things won’t be good.” Especially obviously – I’m not really trying to think of it myself, it’s my son I’m more thinking about it that way, that you know, it could be just one day that – you know – he could take a really serious viral infection that affects his kidneys. Or as we know obviously the process when he’s getting his bloods taken, that the kidney function is dropping and dropping, then eventually that is how things are gonna go. I need to look into the future, because I’m that type of person, that I need to know what – what will happen. How is things gonna go?

And what about yourself? In terms of symptoms? So you said about your kidney function?

Absolutely fine. I don’t feel any different. Unless there’s – there’s some things that I don’t know about, that – you know. But I do. Because my cousin obviously had said to me, you know, “And how are you feeling, and things like that?” And I was like “I don’t really feel any different, to be honest.” I says “Perhaps maybe when I get to a certain level, then I think things start to happen to you, that then indicate that you are starting to go through failure.” Like really tired, and – you know – losing weight drastically, and things like that. I’ve heard that from obviously someone that was in the hospital next to me, when I was getting a biopsy. She just said “You know, just – I just took unwell.” She says, and lost a lot of weight, and couldn’t recover from what she thought was a viral, and. And it actually was her kidneys were failing. But apart from – no, I feel okay. You know? I really can’t – and I think my son does as well, generally.

Well, it can change. It just depends what’s going on. If the protein levels are – or if he’s needing an increase to his medication, you tend to find they don’t leave it six months. What they’ll do is they’ll bring him in like three months, and then obviously if there’s something going on in his blood count or his, his urine sample that they think ‘yeah, we’ll get you back’, and it’s really their decision when how often that he goes. But there has been stages that he was there every three months, and then they said “Right, things are looking good, we’ll move you back to six months again.” So it just, it differs. It differs. So it’s roughly about twice a year, I think, that he gets bloods taken.