It is often thought that Alport Syndrome affects men more severely and earlier in life than women with X-linked Alport Syndrome. However, the progression and severity of Alport Syndrome can vary considerably for both men and women. We interviewed women who had few or no symptoms and others who had developed renal failure and hearing loss. Often the women we interviewed were told by medical professionals that they were female ‘carriers’. Karen said she felt this label sounds as if women just “pass it on”. Katie and Sarah, who have few symptoms said that they had been told “because we're female, it doesn't affect us but we carry it”.
Karen developed stage 4 renal failure at the age of 24 and her kidneys failed when she was 39. Angela was also told by doctors that she was a 'carrier' and that it didn’t usually affect women despite getting kidney failure by her late 20s. Neil felt his partner Diane was unusual developing symptoms so early on. Mariam had kidney failure age 10 and a transplant at the age of 12.
Karen feels strongly that the label ‘carrier’ needs to be changed.
Karen feels strongly that the label ‘carrier’ needs to be changed.
Age at interview: 42
Sex: Female
Age at diagnosis: 33
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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.
Alison was told that females tend to live a normal healthy life, but she started to develop renal failure in her 20s.
Alison was told that females tend to live a normal healthy life, but she started to develop renal failure in her 20s.
Age at interview: 33
Sex: Female
Age at diagnosis: 20
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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.
Angela was slightly confused when her kidney function began to drop as she had been told she was just a carrier.
Angela was slightly confused when her kidney function began to drop as she had been told she was just a carrier.
Age at interview: 40
Sex: Female
Age at diagnosis: 10
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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.
When Donna got ill with hepatitis her kidney function dropped dramatically and she felt devastated.
When Donna got ill with hepatitis her kidney function dropped dramatically and she felt devastated.
Age at interview: 47
Sex: Female
Age at diagnosis: 3
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How did you feel?
I don't know. I just - I was [sigh]. I did, I felt devastated to think that as I was growing up, all I was ever told was that I would, I was a carrier. Which is now we know, a misconception. And so I did feel devastated to think seriously it's, you know - after the hepatitis, I spent so long sitting in the house - because I'm a walker, I used to love running. And I, you know, all I could think about was getting back out there, and doing what I enjoy. And then with the prospect of dialysis, I just really, really felt devastated to think 'seriously, haven't I been through enough?' You know? And when they confirmed that it was going up in the right direction, I was just so relieved. So relieved. You know, I just got all this - I want to do the Inca Trail. You know, I want to go to Iceland trekking, and all these things that I've got planned, I could sit and six months think and [clears throat] - you know, I haven't been on a big walk like since I did Ben Nevis , you know, a few years ago. And I'm gonna get my walking boots back out, and - you know - and it just sort of put things into perspective. And then to think I was then gonna get it all taken away again, that was devastating, so. Back on track again now.
There were mixed feelings about developing symptoms as a female ‘carrier’. For Alison, it came “out of the blue” and was a shock, whilst for Diane it was a slow decline and only after her transplant she realised how ill she had been. For Mariam, the whole experience of going through a transplant at such an early age brought back many traumatic emotions for her. Donna felt angry that her GP had not informed her that her kidney function had declined over the years.
Lucy, who has few symptoms, was told by one doctor that as she was a ‘carrier’ and there was nothing to worry about. Later on when she changed hospitals, another doctor mentioned kidney failure in the future which worried her alot. Lucy’s mum was as shocked as she was after not realising that her kidneys could fail. Her parents genuinely thought it was not an issue as she grew up. Debra, said she is lucky because she is generally a “well person”. She was told she could be discharged because she had few symptoms, but she didn’t feel happy about this and keeps going for her annual check-ups. Emma has few symptoms with blood and protein in her urine, but has been told that she may have a chance of developing kidney problems when she is older.
Although Debra feels healthy, she feels it is very important for women like her to still get check-ups every year.
Although Debra feels healthy, she feels it is very important for women like her to still get check-ups every year.
Age at interview: 33
Sex: Female
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I would encourage people to make sure that they always get themself checked out. Because I think it would be really easy for someone like me to say "Well I don't have any symptoms, and I'm fine, I'm not gonna bother going to my yearly appointments." Which I think would just be silly, because otherwise how would you ever know? I mean, these - one of the doctors in [place] when I was much younger said to me "Well you don't even need to keep coming if you don't want to, we think you're fine."
Really?
And I thought well, if I'm allowed to keep coming I think I will, thanks [laugh]. And I think that was a bit irresponsible actually. Because you know, for example, in pregnancy, who would have been there? And I think it's good obviously, because they think I'm healthy, and I don't - you know, I'm not ill. Which is great. But I would never know if anything changed, if I didn't go. So I would just encourage people to make sure you just keep getting yourself checked out. It's not a massive inconvenience, really.
Amanda has got few symptoms and often puts her son first but realises that she also needs to take care of herself.
Amanda has got few symptoms and often puts her son first but realises that she also needs to take care of herself.
Age at interview: 39
Sex: Female
Age at diagnosis: 33
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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.
Paul, Christine and Emma talk about Emma getting symptoms in the future.
Paul, Christine and Emma talk about Emma getting symptoms in the future.
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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.
Some women that we talked to experienced hearing loss and sometimes this was one of the first symptoms they experienced. Diane remembers getting hearing aids when she was 17 years old. Karen lost about 50% of her hearing by the age of 25. Angela now has slight hearing loss whilst her sister has much worse hearing loss and wears hearing aids. Cynthia who has had three transplants lost her hearing when she was at primary school.
Mariam describes her hearing loss and renal failure age 10 before getting the call for a transplant.
Mariam describes her hearing loss and renal failure age 10 before getting the call for a transplant.
Age at interview: 21
Sex: Female
Age at diagnosis: 13
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I remember I had to have like an operation on my ear. Yeah. I think they were trying to put - I can't remember what they're called. Just like these things in my ear, to help me hear better.
But it wasn't working. And I just kept getting worse with my hearing.
And, I remember it took them a long time to figure out what was wrong with me. And then I think maybe when I was 10 or 11, they found out I had kidney failure.
Ah.
Yeah. So it took them a long time to figure out what was wrong with me. And they were saying that they think the kidney was because of my hearing. And that's when I got transferred to like renal clinic, but for children.
I don't remember how many times I had to go in. But I think it was - I don't know. Almost half a week, I think. Anyway. I also remember that we got to bring one of the dialysis machines home, and use that. So basically I had like two - I had to use two machines, but one at home and one at the hospital. And basically I would be attached to the machine at home every night. So I remember exactly around seven, they would start attaching me to the machine. And I spent like the rest of the night in my room. Just, you know, doing drawings or watching the TV upstairs. I didn't actually have a TV until they bought it. And also like I remember like all my sisters were with me upstairs. Because I couldn't come downstairs. Yeah. I remember a funny bit. Every time I needed the toilet, they would - they would all drag the machine [laugh] with me, to the toilet. Because I couldn't actually reach, so. So, but I remember during the day I would have to go to the hospital and get attached to another machine, which was to clean out my bloods. And I can't remember what the other one at home does, but I think that was supposed to help the kidney work. I was only using those machines for, not long actually.
Right.
I can't remember. It was definitely longer than two years, I think. Well I think my Mum said it was only for like sort of months, I but I can't remember. And then they found a donor for me. Yeah. And -,I remember when I first heard that, that I had a kidney. It was like I think seven in the morning, I was getting ready for school. And then we got a call, and my Mum answered it. And, sorry.
That's alright. Aww, bless you.
[Getting emotional]
Very few women we spoke to mentioned experiencing eye issues. Debra, however, said she had an eye condition called keratoconus which is when the cornea (the very front of the eye) becomes cone-like shape. Her eye doctor at the eye hospital believes this might be linked to Alport Syndrome (see Alport Syndrome and eyes).
Women spoke about ‘benchmarking’ their symptoms against other family members. Several men we spoke to also mentioned female relatives who were ‘carriers’. Alan said that Alport Syndrome hadn’t affected the women in his family. Steve said that although he was aware women could suffer symptoms he said that there were five female ‘carriers’ in his family with no real problems. Katie and Sarah said they looked to their mum who “hasn't got anything too bad” and believed they should be fine. Deborah who has autosomal recessive Alport Syndrome said she doesn’t have any symptoms. Michael said that some of the carriers in his family were not affected by Alport Syndrome although his mum had a transplant when he was 5 years old.
Debra describes feeling well and that she looks to other family members like her Granny who is 79 and well.
Debra describes feeling well and that she looks to other family members like her Granny who is 79 and well.
Age at interview: 33
Sex: Female
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I mean, all I can really base it on at the moment is that, when I have my appointments everything seems to be in check, everything seems to be okay. I am generally well, I don't - as I say, I don't experience any symptoms. And then looking at my family, obviously my Dad's not alive any more, but his mum - my Granny, where the condition came from, she is very well. You know, as I say, she's I think, she's about 79 now. She's well. She's never been ill. She's never been on dialysis. She's never needed a transplant. You know, she's - she is well. But yeah, I mean, it is a worry. Because you just don't know, and you don't know how things will turn out if you're - you know - your sort of function’ll drop at some point. You just don't know.
I, well, it's difficult because I always think well, you know, I've got two parents and look what happened to one of them. And that's where the condition comes from. But my husband and my Mum, obviously but - you have to benchmark yourself against the other female. And actually, my Granny is the closest, in terms of the condition, to me. And I have to look at her and think well, you know, she's doing pretty well, and she's never had any problems, so.
Karen says that her cousin like her has developed serious kidney disease.
Karen says that her cousin like her has developed serious kidney disease.
Age at interview: 42
Sex: Female
Age at diagnosis: 33
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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.
Those women who had experienced kidney failure and hearing loss, said they hoped that their daughters would not have the same and in this way, be a ‘typical carrier’. Alison said that in the future, if she had a daughter she thinks she will be fine.
Neil and Diane hope that their daughter who is a ‘carrier’ will not get symptoms until later in life.
Neil and Diane hope that their daughter who is a ‘carrier’ will not get symptoms until later in life.
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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.
Women we talked to discussed their feelings about medical treatment as well as medical changes and their feelings about the future. Karen said that there was more awareness of Alport Syndrome by the medical community generally, although she felt strongly that there was a lack of awareness on the specific details of female carriers. She felt that consultants were not experts in Alport Syndrome and that there should be a change to the label of ‘carrier’. Similarly, Alison said at a recent information day that she would have liked to see more information on the “female side of Alports” and more information on family planning. Debra said that although she has never found a GP who was particularly interested in her Alport Syndrome and feels frustrated by this, she knows “it's a rare condition, so you can't expect a GP to have huge amounts of knowledge” on it. Katie and Sarah said the geneticist, who explained the inheritance of Alport Syndrome to them, had said they could come back if deciding to get pregnant. Katie was only 14 at the time and felt this wasn’t particularly relevant to her. Paul, Christine and Emma felt that they have received a lot of support regarding reproductive choices.
Paul, Christine and Emma discuss how Emma has ‘positive choices’ when considering family planning in the future.
Paul, Christine and Emma discuss how Emma has ‘positive choices’ when considering family planning in the future.
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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.
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