So, most families who are referred to me are referred to me by a kidney doctor. Occasionally I get referrals direct from GPs. I will see the family, take a very detailed family history on both sides. Obviously what I’m particularly interested in is whether anybody else in the family has had kidney problems, is known to have blood in the urine. Particularly if they’re also known to have had hearing problems associated with that. And then I will identify the person that is most likely to give us an answer if we arrange genetic testing. And that’s not necessarily the youngest person in the family. It may be that there’s an uncle somewhere who’s definitely had significant kidney problems, perhaps a kidney transplant. And it may make most sense to test him first, because we’re most likely to find the answer there. And then once we’ve discovered his mutation, we can test other relatives, in what we describe as a cascade fashion, step by step, to see whether they’ve inherited the same alteration as has been identified in the first person we’ve studied. And in genetics we’ve referred to that person as the proband, it’s the person at the heart of the family, where we initiate our genetic testing and get the information that we need to be able to test other people and find out whether they have inherited Alports or are carriers of the type of Alports that’s in their family.

So we just take a small blood sample, three or four mils of blood. And we put it in what’s called an EDTA bottle, it’s a little pink or purple capped- topped bottle. And that goes to the laboratory where they extract the DNA. And they then sequence the type 4 collagen genes. Or more specifically, three particular sub groups of type 4 collagen genes. It’s the genes that code for the alpha 3, alpha 4, and alpha 5 chains of type 4 collagen. Now the alpha 5 chain of type 4 collagen is coded for by the gene on the X chromosomes. So if there’s a mutation in that gene, we now know that the proband has X-linked Alports. The alpha 3 and the alpha 4 chains both are involved in autosomal recessive forms of Alports. So if we find mutations in one or other of those genes, we know we’re dealing with recessive Alports.

Went to [place]. We had a family appointment there, there’s a family liaison officer when we got there, and – brilliant. Tea and biscuits, and playroom for the kids really, really well. You know, they were very interested in it as well. And we all had to have blood tests – well, I say blood tests, the grown-ups. The children had the DNA swabs. Well my daughter’s husband, [name] – he’s not obviously blood related, but they still wanted to have a swab on – a test off him. Just to check. And he doesn’t like needles at all. And he’s that soft, he had to have a DNA swab, like the children. A DNA swab – you know, the genetic swabs?

Okay. Is that then like a cotton bud, and?

Yes.

From the inside of your mouth, is it?

That’s right, yeah. So they had that. And me and my daughter had the blood tests. So, and then we sent off – sent off the swabs for my son and his family, because they were over in Germany at the time.

Ah, okay.

So they were based over there. So, yeah. Everything went ahead there. And then we got the results back really fast, within three weeks.

Gosh.

And we got a full read-out about the information a phone number, just to contact them any time. And they were great. Yeah. Really, really good.

And what did it sort of say in the letter? And what did it explain?

It explained the genetic testing, and what level it was. And the autosomal dominant, and what that meant. Who had it, and it tells you what to expect, and things like that. And we also got another appointment to and see them as well, to discuss things with them as well.

Okay.

Yeah. So it was very informative. Loads of information you get, as well.

They [the hospital] have a joint clinic with the nephrologist and the genetics renal genetics – which is really, really great. It’s so good, it’s so supportive, so I generally see a, you know a kidney doctor there and but the geneticist is in the same office and we’ve seen him; we’ve had appointments with him several times and he’s also been available very kindly, you know when I’ve been in for my routine appointments, if I’ve had anything I want to just run past him which is just incredibly supportive. My husband and I have seen him, we saw him before we started trying for our first child to talk about the genetics of X-linked Alports and how that would work. We talked about my family, my parents and my siblings and you know the chances that there was some Alports potentially in the family and agreed that that was, that was able to be ruled out because the men would be showing symptoms and my sister had, actually she had a genetic test at some stage before she started a family just to rule it out. I don’t think my parents have ever had a genetic test but

So that was really useful. We talked about the, obviously the sort of statistics, the odds of having children with Alports which we knew anyway from our own research by that stage. We talked about the implications of that in terms of their health. He was excellent to talk to; very non-judgmental, very, you know open to just giving us the facts and, you know only advising us in the sense that -, of saying things like, “You may just want to consider who you talk to this about. So, you know maybe don’t talk to too many people about it because people do have a view and it may not be -, it may be slightly painful for you to hear that view.” So that was good advice actually that we -, we did take on-board. And he was also quite encouraging because obviously, you know being based in the same clinic he has a lot of expertise in the current research, and even back then which was ten years ago now nearly he had some fairly encouraging news about what’s involved with kidney patients because my understanding, my experience of people who I’ve known who’ve had problems with their kidneys has, you know it’s not been good, it’s not been a good way to go and, you know one person in particular I remember being extremely poorly with it and you know it’s not something you would wish on anybody. But things have come on you know. Transplants are far more successful; dialysis is much more of an option now than it used to be and so he was -, he was encouraging in that respect. The reality of it, you know the statistics, the odds, never changes; that’s always what it is. And at the time he was able to give us some information about statistics again in terms of the ages at which people with Alports become, or show symptoms, become poorly or show other symptoms. I think at that time he didn’t mention ACE inhibitors because I don’t think that was anything that was on the horizon at that stage, so there wasn’t a treatment at all at that stage.

Paul: Well we didn’t know about the genetic side of it, did we, until after we were married.

Christine: No.

Paul: Or at least the passing on off the Alport.

Christine: So we went along to see someone in the genetics department up at [name] hospital. And they explained, you know, how it would pass on in our family. Because obviously it’s different, depending on whether it’s a male or female passing it on. And so once we had the information, we still decided that we still wanted a family. I think in your words, you would have said – and you did say, didn’t you – that if Paul could have had his life all over again, would he still have done it? Because you’ve got to think if you bring children into the world, would you – how do you feel about them perhaps going through a similar situation. And you always said that you would always still want to live your life. It wasn’t something – there were good and bad, highs and lows, but all in all he would have wanted to live his life, so. And also, there was a lot of research going on. And they were saying how they were researching into our family genetics. And then, thinking maybe if we had children in the next few years, and by the time they needed to grow up and think about having their families, a lot of research was going on. So hopefully research would have moved everything on, to be more positive, maybe. So we didn’t let it stop us having a family.

Paul: No.

Christine: But it’s important to go into it, understanding the pros and the cons, and what to expect.

Like if when I got my genetic test done, I knew it was gonna be three or four weeks until I get the results. You know, as soon as he got them back, he sort of called me. Even though it’s eight in the evening, or something like that. He didn’t want to sort of wait for our next appointment. He phoned me and asked, you know, “I’ve got the results, do you want them now? Or do you want to wait?” So, yeah. It’s a pleasant experience.

I was in my partner’s flat, just about to eat dinner [laugh]. And then [doctor] just phoned me. Which is fine. I mean, I’m not one for drama or anything like that, so. And I didn’t want to wait until – I think this was in November, and the next appointment was sort of in December, end of December, so I didn’t want to wait until then.

My surprise lasted about sort of a couple of hours from the initial urine test, which is completely instant, to just going back to doctors, getting blood and urine done, sort of going home and just being like ‘ah, crap’ [laugh]. And then sort of levelling out from there. Yeah. So my surprise was very short-lived.

I didn’t have to do anything. I just went along and she spoke to me about – asked about family history, and I guess she looked at the kidney biopsy.

So that – was it just then you then got a definitive diagnosis?

This was some time after that meeting with the genetics, yeah. There was tests that had to, that had to go to London for various testing. And that seemed to take forever.

So it wasn’t until much later. Do you remember who sort of told you, or?

It was very vague. I actually had to ask the hospital, because it’s been really vague in actually getting somebody’s actually sitting down and saying. Like I think if I was to ask them just now, they would say they can’t be a hundred percent certain it is Alports. So I’ve – nobody’s actually said it’s definitely Alports syndrome that you have.

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.

Well I tended to wrap my little boy up in cotton wool, and [laughing]. And like think ‘oh, I’m never gonna shout at him ever again, and he’s gonna get away with whatever. And you did, you were a bit like that, and. And like he’d knock something over, and you’d say “Oh, never mind, it’s fine, it’s fine” [laughing]. That does wear off eventually, and you start treating him normally. But yeah, for the weeks after – and then we tended to spoil him as well, like . We came home and booked a holiday to Haven, and like “Oh, we don’t care, we’re going to do this, that and other, and .” You know, you sort of got a bit silly really. But [laughing], like spoiling him. But I think it were just the shock of it all.

But as time went on, you sort of do realise that there is life after the diagnosis, and everything carries on as normal. Yeah. Yeah.

So did it put a different perspective on things?

Oh, definitely. Yeah. Definitely. You know, you sort of talk to people, and they’re all about – like if they’re talking about their children, they’ll talk about oh, “If they go to university.” Or, “When I become a Grandma.” Or things like that. And you sort of think ‘well I’d like that for mine, but you just don’t know what the future’s gonna hold. So you do sort of tend to live more here and now, and sort of appreciate things that are happening now more, rather than look too far in the future. Like, you know, I don’t even think about him going to university, because you just don’t know what’s gonna happen. And you think ‘if they get there, that’s fabulous’, but you know, you don’t know what hurdles you’ve got to face getting up to that point. So it definitely does change the way that you think about things. And also we’ve got friends that have got children that are ill with other things. And you think ‘well I’m lucky, because he’s not as bad as that’, sort of thing. So it definitely has changed the way that you look at life as a whole, really. You know, you do appreciate things more now. And you don’t tend to look too far in front, because you just don’t know what’s gonna happen in the future.