I think the biggest thing for me that I found is the lack of knowledge in terms of female with X-port, X-linked. The fact that they just think that we’re carriers and, you know there is one in three basically chance that you are not just a carrier; you’re actually going to develop the kidney failure, and to try and get that across to doctors is, is hard it really is. They just think that women are carriers; they’ve got this thing in their mind it’s just carriers and that’s it, the women don’t develop anything, they just pass it on and it’s not like that at all. It’s not, it’s certainly not like that in my family. You know it’s actually turned slightly in our family whereas the men are developing it later than the women, you know so it’s not going to be the same for all X-linked. Just because you’ve got X-linked Alports doesn’t mean that your family Alports is the same as another family’s Alports you know, and I think doctors need to be aware that they need to be following up with the women and not just treating them as carriers because it’s not the case that they’re just carriers you know.

Well that’s what the, the consultant from [place] was saying; you know you wouldn’t call them carriers because it’s just not a carrier issue. And I think that word carrier it just makes it sound like they just pass it on and that’s all, you know they just pass on the genes and, and that’s it and it’s not the case, it’s certainly not the case. You know Alports women are developing kidney disease; there’s two of them in my family alone you know. So, it needs to be, yeah it needs to be changed, they don’t need to use the carrier word in it. If you’ve got Alports you’ve got Alports you know. Whether you, they think you’re a carrier or not you’ve literally got Alports and you, you’ve got the issues in your kidneys already. So, you know it’s not a carrier situation is it you know.

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 – I didn’t really think about it that much when I was a teenager. I suppose how much of this was my parents, what they were told, and so it was what they decided they were going to tell us, or what the doctor said, I don’t completely know. But they just basically sort of – it was very much presented as then “You’ve got Alport syndrome, it doesn’t usually affect women, but in boys you can have kidney failure and hearing problems, and so you’ll need to think about it when you decide to have kids.” But as it happened, I then had problems with my kidneys before I’d gotten to the point of thinking about children.

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.

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.

Christine: We were always told that probably the first real – on top of having a, you know, a bit of urine and protein in her urine, every year showing. The first real probably problem that’s out of Alports would be for Emma that if she fell pregnant, she would probably have a bit of a problem with high blood pressure in the pregnancy.

Emma: Fainting while pregnant.

Christine: So, and obviously the whole bigger issue of having a family, but – while she was pregnant, the high blood pressure.

Emma: And

Christine: And then the next thing really for Emma would be that probably later on in life, there could be that sort of ten, fifteen percent chance that later on in life she might develop kidney problems. Which has happened in the family, with your Mum and your Mum’s sister. That certainly was the case for them.

How do you feel about that?

Christine: But then, you know, that’s – that’s part of

Emma: Well I just kind of accept it. It’ll happen or it won’t happen. Hopefully I’ll have nice children that will look after me [laughing].

Paul: What, like mine who want to look after me and put me in a home, yeah.

Yes I’ve had that from consultants at the hospital. Letters saying, ‘You’re just a carrier; your kidney disease must be due to something else. But it’s not. I think it’s about thirty four percent of women develop it. I’ve just developed it younger than most women. But my, I’ve got a female cousin who’s also developed it as well. So, I don’t know whether it’s a particular thing in our family or, you know because it tends to pass to the males rather than, cos there’s a lot of females in our family. There’s females that are carriers and there are females that, are two of us that have developed the serious kidney disease yeah.

Christine: Our daughter has inherited the gene. And so our daughter, Emma, will have that in front of her as far as when she decides to have her family, that either girl or boy for her will have a fifty-fifty chance of inheriting the Alports gene. But we’ve spoken to genetics about that. Emma’s

Paul: Well, and Emma has, was with us.

Christine: Emma’s been, we took Emma when she got into her teens, to get the latest information from them about it, so that she was well informed and well equipped as she was going into her adult sort of life. And now Emma’s thinking of getting the latest information again, from the same lady up at genetics, now that she’s got a partner. So – but obviously Emma’s – Emma’s got her head in gear about what the situation is. And she knows that there are certain things that she can do, to try and make the next stage as best as it can be. So, you know

Paul: Or eradicate Alports from our family.

Christine: – it could be, you know, that

Paul: And die out with me.

Christine: As, well we spoke about this last time we, we took Emma up there. And hopefully there’ll be some more information when she goes soon. But hopefully Emma will get the opportunity to have a type of IVF treatment that will actually be able to pinpoint whether that

Emma: Egg.

Christine: – embryo, whatever, is carrying the gene. So ideally, will give her the choice to, you know, eradicate Alports down her line. Which is marvellous, because if you

Emma: – come back.

Christine: – if you take it back to when Paul and I were thinking about having our family, that was the one thing we hoped for, in us deciding we wanted a family, because Paul based it on the fact that he would not – he would have lived his life again, if he had chance, you know? It’s had its bad things, but it had good. So we decided to have a family. So but that – we’re at the stage now where we’re hoping our hopes are gonna be realised. That, you know, Emma will decide to have a family, have some good choices, and be able to go down the positive route. That’s really it, isn’t it.

Paul: Summed it up perfectly.