Diane and Neil

Age at diagnosis: 35

Brief Outline: Diane has X-linked Alport Syndrome. She suffered hearing loss in her late teens and had kidney failure when she was 35 despite being a ‘carrier’. Neil, her partner donated one of his kidneys to her when she was 38. They have two children who both have Alport Syndrome.

Background: Diane and Neil have two children aged 2 and 4. Diane is a full time mum and Neil is a software engineer. White English.

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Diane was diagnosed with X-linked Alport Syndrome. As a child she remembers being ill in bed and having various tests and a biopsy on her kidney aged 13, but does not remember getting a definite diagnosis of Alport Syndrome until much later. Neil and Diane believe that Diane’s mum has Alport Syndrome as she has got hearing loss and kidney problems. 
Diane started experiencing hearing loss in her late teens and was 17 when she got hearing aids. She says that at school she “found it really difficult to understand the tutors and stuff” and therefore found school a bit “pointless”. Neil says that Diane found NHS hearing aids never “quite up to the job” and so they went private. Neil feels that when you get private treatment, “they're a lot more careful about setting it up right, and making sure they get the right mouldings”. Diane says she often lip-reads and has done so from an early age.

It wasn’t until her thirties that Diane’s kidney function began to decline. Diane had very high blood pressure and this led to her doctor referring her for further tests. Diane and Neil had decided to start a family at this time but Diane was told she had very poor kidney function. The kidney doctor advised her to “sort” this before having children. Diane had kidney failure when she was 35. At this time, doctors confirmed a definite diagnosis of Alport Syndrome. 

Diane received a kidney from her partner Neil in 2009 when she was 38 years old. Diane says she was extremely tired up until this point but just managed to avoid dialysis. She continued to work full time until the operation. Both Neil and Diane say that the transplant was a “dramatic change”. Diane felt completely different - her “greyish” colour disappeared and people “didn't recognise me afterwards. I'd say hello to people, and they'd just sort of look at me as if to say "Who are you?"”. Neil says he was “just really happy” to give Diane “her normal life back”. It meant that they could then go on to have two children a year later. Diane and Neil feel the care that they have received has been “exceptional”.
 
Diane had some kidney rejection around 6 months after the operation. She had a biopsy on the new kidney and her anti-rejection drugs were changed. She says she was pleased about the change in medication because the previous drugs made her “hairy” which she felt was embarrassing as a woman. She now worries about the side effects of steroid medication but feels that withdrawing steroids now is riskier than continuing permanent steroid treatment. She currently takes two different types of anti-rejection drugs as well as steroids and two different types of blood pressure medication. She now takes medication for her stomach as many of the drugs give her stomach pain. 

On reflection Diane feels that she had kidney failure at a young age and this is “fairly rare” for her as a ‘carrier’. Both her children have Alport Syndrome. They have regular check-ups. Neil and Diane were “disappointed” their children inherited the Alport gene but feel “it's not the end of the world”. They remain hopeful about the future as “medical advances” have “come along a long way”.  

Neil says that they felt disappointed when they found out their children inherited the Alport gene.

How did you feel about the genetic counselling back then?

Yeah, it was good to know all the facts before - you know - before we went in, went ahead. You know, obviously we were disappointed when we found out they did, you know, inherit it. I think especially with [our son], because he's a boy. You know, particularly I think it hurt. And with [our daughter], we kind of went okay. But, you know, really hope she hasn't got it. But, you know, okay she's a girl, hopefully it'll be a lot later in life anyway. But we thought, you know, we'll cope with it, we've been through it, we know what it's like. You know, we know from an early age that she's - you know - the problem. So we'll just have to try best we can. Support him as much as we can really. I mean, it's good that he's gonna have hearing from an early age, so it's not like he was gonna be born with hearing problems, because that's I think much, much worse. At least, you know, he's gonna be completely normal up until 10, 11, 12, and then it's gonna be a slow decline. If it happens at all. You know, so there's a good chance it won't happen. You can hear him now, he doesn't seem to have any problems at the moment [laughing].

Neil and Diane hope that their daughter who is a ‘carrier’ will not get symptoms until later in life.

Neil: So yeah. So with [our son], it'll be - it'll probably be worse for him. Because he , yeah. So he, he'll have the same things that Di has, but probably earlier and more severe. Potentially. So I think there's a seventy five percent chance of him getting hearing loss by the time he's into primary school. But there's twenty five percent chance he won't, so. Yeah. Let's be optimistic [laughing]. And the kidney failure, normally with boys it's sort of by the end of your teens. So, yeah. And then [our daughter], yeah, normally with girls they just be carriers until they're a lot later in life. So Di's quite unusual. 

Diane: I think. Don't know. 

Neil: Getting it so early. Yeah. I mean, as I say, her Mum did clearly have it, didn't get kidney failure and hearing problems until much later in life. So, we'll just have to see with those two. But yeah, they've both been checked and they've both apparently got Alports. But [our daughter] was easy to check, because they just check her urine.

Neil and Diane are hopeful about future research and treatment for their children.

Neil: So they both go there [hospital] once a year, for a check-up. Just to sort of check their - yeah, but they don't expect anything to happen until end of primary. So 10, 11. For [our son], at least. But they'll check him anyway, just to make sure. And just keep an eye on him. And there's obviously new research coming out all the time, that if you - and especially kidney, that actually if you put them on blood pressure tablets earlier, it can hold off kidney problems longer, and there's all sorts of research going on about how best to treat kids you know have, you know, got it. So , you know. And by the time - we're hoping by the time he gets to an age where he needs a transplant, that you know, there's so much research in artificial transplants, and rejection – rejection… are getting so much better, and so , we'll see. I mean with the brilliant reports on Facebook about people who've had transplants for thirty years?

Diane: Mmm. Yeah thirty, thirty five years.

Neil: What's the record? What was the record? Thirty five years. Because they say when you - you know - they say from a living donor, you can expect it to last fifteen, twenty years, if you're - you know - all being well. But, you know, there's reports of people having the operation in the eighties, and still having their kidney now, so. It's brilliant, isn't it. So hopefully it'll go on a lot longer than the fifteen to twenty, it'll be - you know - she won't need another one. But only time will tell, I guess. And with the kids, yeah. We just - you know - obviously medical advances will come along a long way, when they - when they need one, hopefully. So it'll be even better. 

Diane says it wasn’t until her transplant that she realised how ill she had been feeling.

I mean, even when we went to the doctors - I don't remember. I mean, I think it's because it's sort of quite a slow decline, I didn't really notice. It was only after I got - I think when I got near the end, just before we had the transplant, that I realised that, you know [laughing], finding everything really difficult. Really tired all the time. And out of breath. But it wasn't until I had the transplant, and I started to get better, that I realised how ill I'd been feeling.

Because it's just such a slow downhill, I just didn't really notice.

Diane says that her stomach hurts from the medication but overall she wants to continue taking her medication.

I know, I did have a chat with my doctor about it, because I know - and also I do Facebook, there's a lot of people - it's different with different area, as to whether they keep you on steroids or take you off. And I had a word with my doctor to see how she felt about it [sigh]. I mean, she - yeah. I mean, I, I'm perfectly happy to stay on it, because if everything's going well, then as far as I'm concerned that is my main worry. But I do know the - did say they could make you gain weight. You know, it hasn't been too bad, so. It's not a major issue. It gives you cataracts. And all sorts of things. I think it can make your joints hurt [laugh]. Yeah, so there's - you know - I'm - you know, all the medication I take, you know, all has horrific side effects
Well yeah, I think - think it's basically [laugh]. I take like the steroids and the two different types of anti-rejection medication to control my immune system. And then everything else is to counteract what the medication does. So I also take two different types of blood pressure medication. And some medication for my stomach. Because [laugh], all the medication it hurts my stomach.

Neil and Diane describe going through their transplant operation as a couple.

How did you feel prior to the operation? Were you apprehensive, or were you okay, or how?

Neil: It wasn't too bad actually. Spoken to - we'd been to see a couple who'd donated as well, they sort of encourage you to go and meet other couples who've done it. So we went to see a couple in [place], and had a chat with them. They're very good, they give you any support you want really, you know. And they're, they're available after the op as well. I mean, recently I had an issue with my blood pressure tablets and I spoke to [name], who was our transplant coordinator. So they're, you know, really helpful now. And they were really keen to hear about the kids as well, because xxx good thing about that.

Well then they - so they, once I got to a stage where they were happy with my blood pressure, then they - they just have to decide when they're gonna do it. And they just give you a date really, and say "We're gonna do it then." I mean, they do it as quickly as possible, because they knew Di was going downhill, and they don't want her to go onto dialysis, they want to avoid that, at all costs, because you've got a better chance of, you know, it working if you're not on dialysis. They prefer you not to. Because dialysis is a poor substitute for a, for a kidney. So they - yeah, they arranged it within, you know, a few months. I don't really remember actually the time from when they said yes you can do it, to when you could do it - you know, when you can just do the op. And they set a date. And then we, you know, arranged with family and friends to - because we were gonna need some assistance, obviously there was just the two of us and we were both gonna be recovering from an operation. I was probably gonna be out in three days, Di probably five to ten days. No, seven to ten days they said, with you. And so my sister came and picked me up, and helped me get home, and stayed around for a day or so. But I had keyhole surgery, so it wasn't too bad. It was, you know, it was quite a quick recovery. When Di's Dad had his kidney removed, it was - they used to slice down - yeah. They used to slice down the side, across the muscle. So he was out for three months, six months, something? It was quite a while.

Diane: Yeah. Yeah. He was, couldn't really move for six months. He was just sort of sitting in the garden. So he was quite scared, obviously, because of his experience.

Neil: Yeah.

He was dreading what were we gonna look like. And came in the next day, and walking around the ward, and I'm sitting up in bed.

Neil: Yeah.

Diane: He was like "Ooh" [laughing].

Neil: Because with, when they put a kidney in, you don't - because obviously your kidneys are at the back, and you think "Oh my goodness, you know, to put a new kidney in there, they're gonna have to do all sorts of things. But they don't, they put it at the front. 

So, you know, the kidneys at the back just shrivel up and die. And then the new kidney goes at the front. And they connect it all up there, and Di's got a little lump at the front.

Neil and Diane talk about telling others about Alport Syndrome.

Neil: Well obviously our family know. But yeah, other friends know as well. 

About who knows we have Alports in the family. I mean, I'm pretty open about telling people about the kids as well, you know.

Diane: Not many people know about the kids.

Neil: A few people do though.

Diane: Yeah.

Neil: A few people know. Probably less people know about the kids than, than Di. You know, in fact probably a lot of the time, you know, we probably just say she had kidney failure. She's had a transplant, but they don't know why. Some do, some don't, I guess.

What do you find people's reaction, when you say Alports, or?

Neil: Dunno really. I mean, they - most people haven't heard of it, have they. You don't - unless you, unless you know of the condition, you know someone in the family, you're never gonna have heard of it. It's one of those conditions that's not well known. Is it one in - what's the rate? One in twenty thousand? Hundred thousand? Do you know?

Not –

Neil: It's small, isn't it.

Yeah, it's quite - yeah.

Neil: It's pretty unique. We're unique.

Neil felt happy to give his partner Diane a kidney so she could get her normal life back.

Can I ask when you made the decision to donate? I just heard that you were the donor?

Neil: Well it's pretty much when we found out, when we found out that, you know, live donation was a possibility. You kind of go 'oh okay. Oh, you know, I'll donate, you know.' I think actually I was initially thinking 'I probably won't be a match anyway.' Because you think it's gonna be rare. And then they sent me for some tests, and they said, "Oh no, you're a match." "Ah. Ah, okay." 

Diane: [Laughing]

Neil: "Okay, let's go with this then, yes." And her family - you know. It's actually better to come from a family member if possible, but her family just didn't have a great –

Diane: My Mum's weren't working [laughing].

Neil: Your Dad's had one removed.

Diane: My Dad's only got one. 

Neil: For another reason, not the same reason.

Diane: Yeah. He had a lump on his, had it removed. Yeah. So yeah, he - but yeah, my Dad's like "Oh, I'd give you mine. Really, I want to give mine, but." [Laughing].

Only got one, aww.

Diane: "Yeah Dad, you've only got one." [Laughing] "Think you need it." Yeah.

Neil: So, and then - then they just -

Diane: There wasn't anyone else really, was there.

Neil: No. And then they sent, obviously for me they did loads of tests to make sure I was okay. I did have hypertension as well, actually. But they put me on blood pressure tablets for a year, pretty much, which is why we had to wait so long really, to get my blood pressure to normal. So once that was normal, they said "Yeah, you're fit and healthy otherwise. You know, you don't have any problems in the family either, there's - you know - nothing that would prevent us from doing it, so." So yeah, went ahead with it in July 2009, was it?

Diane: Mmm.

So how did you feel about being a donor, and afterwards, and?

Neil: Yeah, I mean, just really good. Just really happy to give Di, you know, her normal life back. I mean, we wouldn't have been able to - you know - have those two kids without it, so - without doing it, so. It just seemed the right thing to do, and it means we could get on with our life really.

After Diane’s transplant, she and her partner waited for 6 months to make sure her health was stable and her new kidney working before they tried to conceive.

Neil: And then also we, we found out that, you know, tested for Alports. And then we started talking about having, said we wanted children, they sent us to a geneticist to talk about how, you know, the different possibilities for having children with Alports and kidney failure. So it all happened around the same time really.

So it all happened quite fast then, that?

Neil: Yeah, within a year or so, I suppose. And then, you know, but then her kidneys had deteriorated so much they were like "You've got to get that sorted first." And they gave us quite a nice - they basically said, you know, there's no problem once you've had the kidney, you can have children after that, that's not a problem. You know, you'd have to - we have to put you - you have to tell us when you want to try and get pregnant. Because they need to switch the drugs, and make them more suitable for trying for children.

Diane: Yeah, we had to wait a year before you could switch over.

Neil: Yeah. Yeah.

Ah, okay. 

Neil: Yeah.

Diane: And then we switched over, and then we had to wait six months, to make sure the switch onto - you're stable on your medicine. And then you can try and have children.

Neil: And there's a kidney unit in [place], so she generally goes there. 

Diane: Obviously when I was pregnant both times, I was in there all the time [laugh]. So many pregnancy checks, it was - just to make sure.

Neil: Yeah. So once a month she's having checks. And once a months scans as well. So normally with a baby you have two scans, but with both the kids she had a scan every month, to make sure everything was going alright.

Diane: Which was quite nice.

Neil: Yeah.

Diane: [Laughing]