Frances

Age at interview: 35

Age at diagnosis: 16

Brief Outline: Frances was diagnosed with Alport Syndrome when she was 16 years old. She doesn’t feel like she has many symptoms. It was only when she was pregnant that she developed symptoms. She is most concerned about her son who has Alport Syndrome.

Background: Frances works full time as a learning support worker. She has a daughter aged 11 and a son aged 7. Ethnicity: White Scottish.

More about me...

When Frances was 8 years old, her dad had sudden kidney failure and was diagnosed with Alport Syndrome. This led to many family members getting tested in the years that followed. Frances was told that she “just had the gene” but that she “didn’t actually have Alport Syndrome”. However, when she was 16 her doctor noticed something wrong with her blood test. She had a biopsy which confirmed she did have Alport Syndrome. She remembers telling her dad the news which she says was “a ton of bricks on him”. He felt completely devastated to have passed on Alport Syndrome to Frances. Her dad had a kidney transplant which she remembers very well. After the transplant family life changed and “everything seemed to go back to kind of the way it was when I was wee again”. 

Frances is on six different medication including medication for high blood pressure and antidepressants. She started taking antidepressants when she was first diagnosed with Alport Syndrome as a teenager as she “found it really hard to cope”. She took them again when herson was diagnosed and says, “that's the horrible thing about hereditary illnesses, that it's just a never-ending circle”. She hopes for a cure someday for Alport Syndrome, but at the same time believes that “everybody has different things, and you just get the cards you're dealt with”. She finds the best support has been connecting with “people who have actually gone through the same kind of things”. 

It was only during pregnancy that Frances developed several symptoms. She had a lot more protein and blood in her urine and her blood pressure went up. With her son’s birth she had a caesarean section four weeks before the due date. She remembers she felt “rubbish” during this pregnancy. When she had her son, she had a strong feeling he would have Alport Syndrome and was “expecting it”. She recalls getting the letter in the post which confirmed her son had Alport Syndrome and feeling that this was a “harsh” way to find out. She would have preferred someone to tell her in person.

Frances’ son has yearly checks. Frances feels that the care he receives is “brilliant” and that the doctors are very child-friendly and “approachable”. She says that the doctor they see, “talks to you like a human being” and “genuinely cares”. She remembers when she was little how different this was, with hospitals feeling “dark and clinical”. She recalls having “no idea” what the doctors told her when she was little because they didn’t explain things “in layman’s terms”. Although she was devastated that her son was diagnosed with Alport Syndrome, she feels her son’s “future is a lot brighter” than her own dads because of all the medical advances. 

Frances has yearly check-ups herself and feels that she doesn’t need to know “too much detail” as she feels fine. She feels this is a “motherly thing” to be more interested in what is happening with her son than herself. Frances does, however, remembers wetting the bed when she was little and this is something that has affected many of her family with Alport Syndrome. She remembers the stigma and embarrassment associated with bed wetting and says “I never went on school trips, I never went on the overnight things with school”. She says she “felt terrible” and couldn’t understand why it was happening to her despite going to her GP several times. It affected her until she was about 16 years old when suddenly, “it just stopped”. More recently she went on a weekend away with the Scottish charity Kidney Kids and found other families had the same experience. She found this very reassuring.  
Frances feels that her family “just gets on with life”. Rather than worry about the future, she feels that “nothing stops us” and her son does football, swimming and “all the sports”. She says that you “wouldn’t notice any difference” between her son and his other friends, “just because he’s got a genetic condition doesn’t mean that he’s different”. She is also passionate about doing fundraising for kidney charities and likes to help others in a similar situation. Her message to others with Alport Syndrome is that it is “not the end of the world” and that the “outlook is not bleak, it’s looking good”.

Frances finds she gets used to explaining Alport Syndrome because many people haven’t heard of it.

It's quite - it's a strange one because people say like - especially if I'm at my work or something, and somebody says something…, and they go "What is it you've got again?" And they look at you as if you're a weirdo. And you're like "It's Alport syndrome." And they go "Never heard of that." And I'm like "Nobody's ever heard of it. It's fine." You know, you get that used to explaining it. And when I was wee, the only way that my Mum ever explained it to me was "Your kidneys are like sponges." Because when you've been to the doctors, they're like a hundred words and you're just sitting there thinking 'no idea'. They don't say it in layman's terms, I'd no idea what they're talking about. My Mum just said "It's like a sponge, and it soaks up everything you put in it. And then it filters it out." They says, "But yours filters - it doesn't work properly. It keeps stuff in it, and it rots the kidney." And I was like "Right." So it keeps the bad stuff in, it doesn't pass it. So it leaks it into them, and then you kind of just rot. And I'm like "Oh right, okay." And I used to think 'why don't you just get new sponges?' Because a child, you just think 'well you need a new sponge then'. But you don't realise that that new sponge is a new kidney.

Frances remembers the day she got the letter confirming her son’s diagnosis.

He was - this was during the summer, so he was about eight months. Because he was the fattest wee baby in the world. He was just the cutest wee thing, he was just like this wee fatty, just pretty cute. And every time we went they were like "There's no way we can get blood off him." Because his wee arms were just like wee chunks, and then his wee hands were all - and I was like "No, you're just not gonna, really." And then that's when they said "Oh yeah, it's alright, we can do a wee swab, like a wee cotton bud kind of swab in his mouth." And then when it come back, and it come back it was my birthday. Always remember that. I was like 'well happy birthday, thanks'. Going to door, and you've got a letter to say that. And I thought that was quite harsh as well, that they didn't call me in to tell me that. They just sent me a letter in the post.

Just sent me a letter in the post saying that my son had Alports. Yeah, "We're very sorry to confirm." And I just burst into tears. You know, I just remember that. I remember standing in the bottom of the hall screaming, as if somebody had killed you or something, and like just screaming and screaming, and [my partner] come running in "What's wrong?" You know? Thinking - and I just couldn't speak. I was just hysterical. But I thought that was really bad, to just send you a letter. And after it, I thought why did they not call you in? And then they could have explained it to me, and spoke to you about it and kind of went through it. Because getting that through the post was, I certainly don't think would be the right thing for a family, I think the right thing to do would be sitting down and have somebody there to talk to them. You know, like a genetic counsellor there, for when you're gonna actually - rather than saying 'if you need any help, please contact this number'. And you're like 'oh, aye'. Because I'm really in the right frame of mind to speak to someone about what I've just been told.

Frances says everyone copes in different ways and although she worries about her son she is positive about the future.

My cousin, my Dad's sister's boy, his kidneys failed when he was in his twenties. But he didn't cope very well at all. He was - I think because he was so young, as well. You know, really young. Didn't like it, hated it, felt as if his life was ruined, and just really, really sad. And he died when he was 42, I think. He ended up turning to drugs. Because he was so depressed. Just felt as if he had no life, because he was just on the machine, or on his bed. And that's another thing that they don't tell you, that - what it actually does to the person. I think because my, my Dad was really good, we had a - obviously my Mum, my Dad, we had the three kids, but we'd a really good family as well, and really good support network. So did my cousin. You know? But everybody's different, and he just dealt with it differently, and he - he just did not cope. And he took the wrong path, unfortunately, and unfortunately we lost him at a really, really young age. Because, and that's what it was. It was just because - and my, my aunt blamed herself as well, because like she was the exact same as my Dad, she thought it was like her fault because her, her boy wasn't well. So I think things like that worry me as well, I worry about that, I worry about my son, I worry about what's going to happen to him, how his life's going. But I also - I'm worried, but I'm also very, very positive, because I know how much things have changed. I know that since, you know, it all first started in our family nearly thirty years ago - god, that seems forever - that things have massively changed.

They're growing kidneys and all sorts of stuff now, so hopefully by the time that he's older, when he - if he does need. It says on the enalapril that he's on, it's actually been known to stop kidney failure. And we've looked into all sorts. And I think it's a good thing, and it's a bad thing. Doctor says this is this, this is that, and you go 'right, okay'. Home, straight away, google. And everybody does it. And it just fills your head full of stuff. And you're going to all these forums and websites and for weeks and weeks and weeks after then, I was just crying all the time, and just looking at all these stories of all these people, and - and I was thinking of the negatives, and focusing on that, rather than thinking about all the good stories and all the, you know, how people are still here, whereas years ago if that happened they wouldn't be here. You know, the person would have died. Whereas now it's just completely different.

Frances felt it was useful seeking out others in the same situation.

Guilt is definitely the thing with Alports that they don't tell you about. They don't tell you that you're gonna feel this way. And I don't think even - like when I first found out about my son, then they offer you all this help and that, I just didn't want to speak to anybody. Because I just they don't know anything, they're all these professionals who are telling me all this stuff, and they don't actually know how I'm feeling. They don't know what it feels like. And that's when I was like - I want to start talking to other people who've got similar kind of things, and. And that's how, you know, that I joined the Alports thing. And, you know, I like - I started doing stuff with Kidney Kids, and because the other people who have actually gone through the same kind of things as you, you don't feel so alone, you realise that there's people who are much worse off than you. We went to that weekend and there were lots of kids there, and lots of them are on dialysis, lots of the kids - you know - had bags and different things, and getting fed through tubes and all sorts. And I was just like, just realised how lucky we actually are. He's running about playing, and - you know - "Can we go into the swimming pool." And, you know, just drinking a bottle of juice, no bother. And, you know, I could hear this one guy saying to his wee girl that he's, going "No, that's true, you've had 175ml, you know, you can't drink any more just now," kind of thing. And I'm thinking, you know - I don't have that problem yet. So just think about what I have got, rather than being worried about, you know, what could happen, because it's not happened yet, so just enjoy it while it's there. So now I just, we've just got on with life. Nothing stops us. My wee one's mad, he's into everything. Goes to football, goes to swimming, goes to all the sports, does everything that - you know - all his wee friends do. And you wouldn't notice any difference between them, and that's the way I want it to be. Just because he's got a genetic condition doesn't mean that he's different.

Frances describes her feelings as a teenager and how her dad’s positive attitude helped her.

Yeah. Oh, definitely. Just because I just felt so low, and you know, as if 'why me?' And 'what have I done?' And all this kind of self-loathing, and. It's, I don't know, it's a - it's a really, really strange thing to try and - to say. Because you're a young person, then suddenly you're told you've got this illness, and you're like [groan], 'it's not fair'. But life's not fair. And you realise that as you get older. And well everybody has different things, and you just get the cards you're dealt with, but that's that. But when you're wee, you're not that rational and you don't realise that, and you just - so I just had a meltdown, and wasn't functioning properly, and - you know -the doctors put me on antidepressants, and then I seemed to pick up and I was alright. And then when my wee boy got diagnosed, I was devastated. Absolutely devastated. They were gonna send us to the genetic counselling, and all these kind of things, and I didn't really want to speak to anybody about it because it was personal and it was private, and - and like I said before, my hubby's really private and didn't want to talk to anybody, and didn't want - you know - it's our business, it's family business, and keep it that way. And that's fine. That's - everybody has a different way of dealing with things, but I just couldn't function. Could not function. I was like just - felt worthless. And how could I do this to the most precious thing in the world? And it was all my fault. And then that's when it started to make me think about well my goodness that's how my Dad felt. And that's the horrible, horrible thing about hereditary illnesses, that it's just a never-ending circle.

Because I think for somebody who's had Alports for years, obviously, and had a kidney transplant and looked after himself, he's done pretty well, so. He always said that it's just a lot to do with positive mental attitude, and - you know - he's got a really good outlook, and he's always been really positive, and never let anything get him down, and always been very, very strong. Very strong-willed, and very determined, and always went "I'll do it myself. I'll do it myself." He's always been like that. And I think that's what's got him to this age. As he's not lay down to it at all.

Just think it's not the end of the world. I think that is the big thing. When the diagnosis first obviously my Dad, then me, then my wee boy. You just think that your life's over, and - you know - this is the worst thing. "Why me?" And it's life. You know, we get dealt what we get dealt, and you just need to deal with it. But things have changed dramatically. And the outlook is not bleak, it's looking good. Things are changing, and they're discovering new medications, and growing kidneys in labs and doing all sorts of fancy things now, so. Just stay positive, and keep going.

When Frances thinks about the future she looks to her aunt who was relatively healthy.

And how do you feel about your own Alports? And sort of like the future? Does it worry you at all, or?

No. To be honest. I think because my, my aunt was like 70 - she just died last year. And she had a really quite relatively normal life. And we and her were really, really close and we used to chat about that, and she always says the only time she ever had any problem was when she was pregnant. And that's what, I said "Well, that's the only time I really had any bother, when I was pregnant." Because obviously this wee person inside you is putting all this extra strain on your body. The only thing - she was the same with blood pressure, really. And when we used to chat, and she'd say "Oh, when I was a wee girl I used to always sleep in the afternoon, and didn't know why I was so tired all the time, and things." She says, "And then it wasn't until I was older and then I realised it was my blood pressure." And I'm like "I'm the same." Come three o'clock and I could just go for a wee nap. And I'm still like that. I come home from my work and I'm like [groan]. If I sit down any longer than five minutes I'm sleeping. But I'm like no, you just need to kind of keep going, but. That's the only thing. So it's just a change to your lifestyle, and trying to not limit yourself, but also realising your limitations. You know?

Frances’ eyesight is fine although she previously worried because there are eyesight problems in the family.

I think, you know, there was always things. I was always going to hospital for different stuff, and check-ups. And I've had my eyesight tested, I've had the hearing tests, I've had - you know - all sorts of things. So I remember going when I was wee, and getting - you know - the like putting the side of your face to hear, and they're saying that there's a certain frequency that I can't hear. They said that it doesn't affect my kind of normal day to day. My eyesight's alright, its fine. Didn't get that. But that's one of the things that I was really quite worried about, because literally all my family wear glasses. But my Dad's sight is really, really, really bad. Yeah. He's really bad. He's waiting - he's waiting, he'll go and get the surgery. He's been offered it. And he refused. And now he's saying he wants it again. But I think when it comes up again, he'll refuse it again, because he's got dementia now. So, and you can't force him to get something done. Because he might want it today, but then if he gets the appointment then he might not want it. I know. So the hearing, his hearing is really bad. He's got two hearing aids as well. But apart from that, I just - my general health's not bad.

Frances remembers her dad being in hospital and how upset he was when he realised she also had Alport Syndrome.

Because I just remember seeing my Dad hooked up to machines, seeing all the struggles, and all the things he had. Like he had peritonitis and stuff, he was in hospital, we thought he was gonna die, and he was really ill like loads of times through the dialysis stage. And I thought 'oh my, this is me, I'm gonna spend the rest of my life like that'. And then I think the thing they don't think about as well is because it is genetic, it's passed on. My Dad - having to go home and tell my Dad that I'd just been told that I've got the same thing as him was like a ton of bricks on him, because he was devastated. He was crying, and saying how it was his fault, and why would they do that, it's - he would never do that to me, he loved me so much. And I felt absolutely terrible, because he was blaming himself for something that was totally out of his control. He didn't know anything about it when he had me, you know, me and my brothers. And then suddenly he felt as if this was the worst thing - you know, how could he do that? And then it wasn't until I got a bit older - I'd never ever blamed my Dad, never ever blamed my Dad. And then when I got older, I realised, you know, how it did feel. Especially when I had my daughter and she was fine, and then when I had my son - I think I got complacent, I just thought 'he'll be fine'. You know, 'my daughter's fine, it's fine'. And then when he wasn't, everything came crashing round about me. I was devastated. Absolutely devastated. But I just know now that things are completely different, and his future is a lot brighter than, you know, certainly my Dad's would have been - you know - if this had been like when my Dad was his age. It could have been devastating. But now he goes to hospital and has regular appointments, has check-ups, takes medication. Kidney function's doing really well. The hospital's delighted with his progress, they say that everything's really good, just keep doing what you're doing. And they'll keep monitoring it. And as long as I think you stay on, on top of it, and you do monitor it, then you know, there's things you can do to slow it down, and stop - you know - the progression actually to renal failure.

Frances vividly remembers a brilliant family holiday because her dad could also come too.

I knew the doctors' names, I knew the nurses' names, I knew everybody's names, because that was normal to me. And not having holidays was normal as well, because we could never have any, because my Dad was always on dialysis, and always the bag, or. You know, it wasn't until I think - he was still on dialysis - I think I might be 10 or 11, and we went to a big like kind of caravan park place, you know. One of these big chain ones. But the British Kidney Patients Association had organised that. And they had a unit that my Dad could go to, and go on the dialysis. So he could go on holiday, and be there with us, and then go away and do dialysis in the actual place, and then come back. And he'd like - and I always remember that, because I thought this was the best thing ever. Because it was such a big deal. Because we had never been like on holiday since my Dad had been sick.

And how was that holiday?

Brilliant. I just remember just loving it. And, but it wasn't just me, my Mum, my Dad and brothers, like my aunty came and my cousins came as well. And so it was like a big massive, you know, family thing. And my family - especially like my - that's my Dad's sister who's passed away - they were inseparable. So they were always, always together. So like that's, that was really nice, that we have memories of them, you know, being on holiday together. You know, and just enjoying normal family life. And going to the seaside, and going to the entertainments at night time, and watching people up singing, and like beauty contests and all the rubbish that they have on these holiday parks. But when you're wee you think this is the best thing in the world. And, you know, and I think if I took my two there, they would be like "Right, okay." You know, and bored senseless. But then, that was the best thing in the world to me because it was just normal and it had been what I'd been dying for, for so long. Because everybody else is away on holiday and doing things with their family, and going to the cinema and doing this, and my life wasn't about that when my Dad was on dialysis. It was just about - even going out with my friends, doing whatever I wanted to do. But if I wanted to do something with family, had to be planned really well because didn't have a lot of time. Couldn't go very far. We only had that four hour gap in between, you know, the bag. You know, and it was like - and then, you know, I'll maybe go to the shop or come back, but even then he couldn't do anything because he was so tired and so drained, it - you know - and even then it was like if I was wanting to do something with my Mum, because my Mum didn't want to leave him. So we'd need to get somebody to come and be in the house with him. So, so I think that - missed out on that when I was wee. And you don't realise that actually. I don't think I've actually realised that until I've actually started to sit and talk about it, because that was just normal to me.

The GP told Frances that her creatinine levels would need to be checked every week during the pregnancy.

I just went to my own GP. And basically said that, you know, we was gonna have a kid, but - and he said "Oh well, the medication you're on is not suitable, need to change that before you actually want to start thinking about having a family." And then - that - they're both fine. Obviously the medication, whatever it was, was well out of my system before I had them, so they were alright.

Can you tell me what happened during the pregnancy? Because you said that's when things sort of changed a little bit? 

Just really kind of like - obviously general pregnancy things. But not being, not having kids before, you think that that's perfectly normal. You think that you put on lots of weight, you think that your hands swell up really bad, your ankles swell up really bad, that you've got lots of - you know - blood and protein in your urine, and that's quite normal. Because I always have that, so that's alright. And then it wasn't until you start going, and they're going "No, but there's like too much protein and too much blood. You normally only have like a trace of blood, or two of protein." And I was having like five of this, and six of that, and I was like "Oh, right." I didn't, you don't understand. I'm just like "Oh right, okay, what does that mean?" And they're like "Well something's not right then, if that's happening. It's obviously putting more pressure on your kidney." And then they checked the creatine levels and were saying obviously that the - not sure if it's decreased, if they go down isn't it - up? Can't remember. Is it up? I can't, I honestly can't remember. I just know that they said that obviously the creatine levels had changed, and that's high, so they were having me in every single week to monitor me. So I was in constantly, to get monitored. Really quite sick, and just kind of feeling rubbish. And why, why's this rubbish? You know? Pregnancy's not supposed to be like this, it's supposed to be great and easy and wonderful, and - you know. But my first wasn't, wasn't that bad. [My daughter] was fine. She was - hers was alright, but the second just seemed to be worse. 

Frances says she’s been advised to stick to a couple of alcoholic drinks if she goes out. She thinks that spirits are less harmful for her than beer and cider.

But my kidney function is alright. And it's just a general kind of looking after myself. The doctor has said about drinking, they've told me that many a times over the years. I'm just like most people my age, I like to go out and have a drink at the weekend with my friends and my family and stuff. Have a couple of drinks, don't go mad, be careful what you drink. And if you're gonna drink, try and drink spirits because they're better for you, got less chemicals and things in it than beers and ciders and all this kind of stuff.

And did they say why that was?

They just said that it was purer. And it was, it was less harmful because there was less like additives and stuff. Because obviously when - you know - with your kidneys, you've got to watch your diet. I think, I don't know if it was like a potassium thing or sulphates or something that was in the alcohol. But I think spirits they said was a purer-. Yeah. It was always funny. It's funny. I always remember the funny things like saying "Don't have Oxo, don't have Bovril, don't have -." And I used to think why? It was just like gravy, or normal. But it's obviously for a reason. They've obviously looked at the salt content, probably - you know - too high for these things. You know. Even just one of the medications I take is saying like 'avoid grapefruit'. Which is random [laughing]. So you think 'why am I avoiding grapefruit?' But it's obviously because of the citric acid. For some reason it must counteract with something.

When she was younger Frances found it hard to follow dietary advice because she felt nothing was wrong with her.

But certainly not now, because things have changed so much." There's all this medication they can - not just even medication, it's the fact that they realise what you've got at a very young age, they monitor it. You go to hospital, you get check-ups, they tell you - you know - to limit your salt intake, limit your, your water intake, try and lead a healthy lifestyle, try and do all these things to look after yourself, to put as less pressure on your kidneys as possible. Whereas when I was wee, we didn't know anything. You know, just ate and drank whatever you like, and then suddenly it was like "Oh no, don't do that." And I found it really hard when I was wee, because they saying "Oh, don't do this, don't drink this, don't do that." And I was like "No, I'm fine. You know? I don't have anything wrong with me. I've got obviously this gene, as they said, that I've got a faulty gene. Don't have any symptoms, but." 

Frances feels the outlook for people with Alport Syndrome is good.

Just think it's not the end of the world. I think that is the big thing. When the diagnosis first obviously my Dad, then me, then my wee boy. You just think that your life's over, and - you know - this is the worst thing. "Why me?" And it's life. You know, we get dealt what we get dealt, and you just need to deal with it. But things have changed dramatically. And the outlook is not bleak, it's looking good. Things are changing, and they're discovering new medications, and growing kidneys in labs and doing all sorts of fancy things now, so. Just stay positive, and keep going.

Frances isn’t on social media and would like to find other people with Alport Syndrome in her area.

And - oh, yeah. So if you wanted to see like a sort of better service for people who've got Alports, from the NHS, what would you want to see?

Obviously the patient confidentiality thing, they can't really disclose other people's details, but I think there should be some way that people can know who's in the area who has - you know - obviously there's all the social media sites that do these things, but not everybody's on social media. Not everybody's aware of these things. I don't do social media. I think I'm probably the only person in my age, you know - especially all my circle of friends, and I'm like "I don't do all these fancy sites." No, I don't bother. I don't like them. It's not really my cup of tea. I'm quite happy - if you want me, phone me, text me. That's it. You know, come to my house. And I think that's the thing, you know, you're kind of missing out on that loop because you don't do this. I'm still on the internet, I still do sites, I still do things, but I don't do social networking. And I think that that should definitely be more proactive, like a, an actual online board for people who are suffering from the same condition. You know, forums to chat, meet up and whatever. Just for that extra support. Whereas a lot of that stuff I got from like the private organisation, from the charity there. More like that there, the ones that sort you out and get in contact with other people who've got similar, and - you know - they do that. Whereas they shouldn't really have to do that. I think like, you know, especially like the Alports and stuff, especially when it's a really rare condition, they should try and let other people know, you know, that you're not alone, and there is somebody else with the same kind of things as you.

So sort of -

Like a forum or something.