Dee

Age at interview: 51

Age at diagnosis: 48

Brief Outline:

Dee was diagnosed with the rarest type of Alport Syndrome, autosomal dominant. She has been on dialysis for a year. She manages her condition by keeping active, taking responsibility for her treatment, doing her own research, and maintaining a sense of humour.

Background:

Dee was a bus driver for 9 years. She has two children aged 31 and 29 and two grandchildren. Ethnicity: White British.

More about me...

Dee discovered she had Alport Syndrome at the age of 48 when her granddaughter went for a check-up. The doctors diagnosed Dee’s granddaughter with hematuria (blood in your urine), which they thought was hereditary; sothey referred Dee for further appointments. At the time of her diagnosis, Dee was in the final stage of kidney failure. The diagnosis came as a “shock” as she never experienced any symptoms apart from tiredness, which Dee attributed to age. In retrospect, Dee now knows that both the fatigue and the hearing deterioration she developed during her mid-thirties were Alport Syndrome-related. 

Dee has been on peritoneal dialysis for a year, which she chose over haemodialysis because it felt less invasive. For Dee, taking control over her treatment is essential. She feels that “being in touch” with her body is an important part of dialysing: Dee pays attention to her weight and feelings of tiredness or being bloated, and she takes off more or less fluid accordingly. As part of managing her condition, Dee does her own research on her condition. She feels that “the more you can find out, the easier it is to cope”. 

She often goes on online support forums for practical advice, but spending too much time on them can drag her down. Because autosomal dominant Alport Syndrome is so rare, Dee has never met anyone with the same type of Alport Syndrome. However, meeting others with similar issues is not her priority: “I don’t want it to become a lifestyle, it’s just a condition … it’s just for me to get on with”.

Dee gets through occasional “bad days” with her sense of humour. Her main sources of support are her family and her grandchildren. Both of her children carry the Alport gene, but they don’t have any symptoms. The doctors are also keeping an eye on her grandchildren, but Dee hopes that they won’t develop any symptoms beyond haematuria. Dee’s advice to people living with Alport Syndrome is to “keep active”. She enjoys taking her dogs out for walks, gardening, readings, and spending time with her grandchildren.

Dee explains how she had few symptoms – only tiredness and blood in her water – before her diagnosis.

It all started out when my granddaughter was a baby, and she went to the doctors for some check-ups, and they found she had blood in her urine. And then she went to see a specialist, and from there they found out that she had some sort of kidney disease. And so they asked if anybody else in the family had it. And I mentioned that I'd also been checked for urine infections, because I'd always had blood in my water, and that they always gave me antibiotics for it. So they asked me to go in and have a check. And they checked my water, and although it had blood in it, it wasn't through infection it was because of my kidneys. And they found out that I was actually on eleven percent kidney function. And so that's how I found out that I was having this. And then so from there I've gone onto dialysis. And probably within twelve months I was on dialysis. So it was quite a shock really, because it could have… I wouldn't have known. The only symptoms I actually had, looking back so to speak, were the fact that I was tired all the time and I didn't have as much energy. But I just put it down to being older, and things like that. It came on so gradually that I didn't really - thinking about it - the doctor explained to me what my body was going through, it was like "Wow, that's why I feel so tired, then." But that was the only symptom, so to speak. And I didn't have a clue otherwise. Not at all.

Gosh.

No pain. No discomfort. Just tiredness.

Dee talks about not wanting Alport Syndrome to define her.

I don't think it is, really. Because it's just - you know - it's not, I don't want it to become a lifestyle, it's just a condition, sort of thing. I don't want it to be, you know. It's just for me to get on with, really. You know, you see people on some things, and they wear t-shirts, and like 'oh, look at me, I've got a kidney thing'. And I'm like no, I don't tell many people about it, and I don't - you know - apart from if I've got to - say about hospital visitor or what have you, I don't talk to my family about it either, it's just - you know. Just there, and that's it. It's not - don't want it to be something to focus on though, you know? Don't want it to define me. You know, I mean, I see people and they're like - a woman said to me the other day at the bus stop, she said "Why have you got a bus pass? You're not 65." I said, no. I said "Mine's a disability one." "Well, you're not disabled." I was like "I am, I'm on kidney dialysis." She went "Well, you don't look ill." And I was like "Well I do apologise about that" [laugh]. You know, but it's right, because I don't tell many people, because you don't look ill about it, so people just tend to not take you seriously anyway when you talk about things. But I don't want to discuss it really. Not many people know. My friends from work knew. You know, close friends, you know, but many people don't know.

Dee felt her family appointment at genetics was ‘brilliant’.

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.

Dee tries to keep positive for her children and says Alport Syndrome is something you adapt to.

If I'd known I had a genetic illness, obviously it would have - there would have been some thought involved with it. But I think now I've got the illness, lived with it, I'd have reacted differently. So I'm glad it's happened this way round really, because if I'd had the choice I might have made a silly decision. Whereas looking back it's not something that - I don't want my children to go through this, don't get me wrong. But at the same time, if they have to do, I know it's not - you know. I said to my daughter about it, "I'd rather be here than not be here." I thought that's, you know, what counts, isn't it. And I think that's what keeps me stronger on dialysis as well, because whenever I feel down, I go 'hang on a minute, don't want them to see me like this, you know, because there could be a time when they're going through the same sort of thing'. So I stay positive about stuff, but. It isn't, it isn't really that bad. It's just - best way to describe it is, it's just something you've got to adapt to, which is a little change in your life really. And if you just treat it as that, I think you manage alright.

Dee explains the medication that she takes for different symptoms.

And what medication are you on? Can you explain? Are you on any sort of medication?

Yeah, well I take phosphate binders with each meal, that's for the phosphorous levels. And then I take aspirin. And I take lisinopril, which is, to keep - it keeps my blood pressure down, but also it's to help with the kidneys in some form. Does seem to be helping with them as well. So I take that. I'm on amitriptyline, because I have serious arm pain and hand pain. I've had operations on my hands because I had carpal tunnel. And I've got Raynaud's as well. And then that plays up, so I'm on medication for that. It's not too bad really, medication-wise.

Do you get any side effects from any of those medications at all?

Tiredness. Which is a bugger, because I'm on amitriptyline for my arm pain and that adds to the tiredness as well. And codeine as well, so.

Yeah, what's the codeine for?

That's for the arm pain. Yeah. Yeah. So I've had operations on my hands, which has helped a lot. But at the same time I've still got pain. Which is bad because when I had the operation, I had to set my machine up and things, but my daughter comes and helps me with a lot of things like that, so that's good.

Yeah, only a low dose, 5mg. And I take nifedipine, that's for the Raynaud's, for my hands. Most of my medication actually is for my arms and my hands. For the kidneys it's just lisinopril, aspirin, phosphate binders, and then Lactulose, which is a laxative which I have to take regularly because - the main thing with peritoneal dialysis, sorry, it's a conversation you probably want to avoid, but it's being constipated. That can affect adversely with the dialysis. Because it'll push the tube out of synch. Obviously, can you imagine if your bowel gets filled, it'll push the tube out of synch, got to make sure you're, you're regular. So I take that every day, twice a day.

Dee felt shocked when her kidney function dropped.

I was really shocked. I thought 'gosh, I should be - shouldn't, shouldn't I be ill?' You know? I thought well 'wow, that's really strange'. But then they explained to me that it's like - you know - it's a thing that creeps up on you, sort of thing. Flippin' heck. And it's "But we don't know how it's gonna change, it could stay at eleven for the next two, three years." They said, "But, you know." I was like "Oh, right." And it was just a case of checking. So I went back three months later, and it dropped. And then three months after that it was the same. And three months after that it had dropped again. And then I went back again, and they said "Right, we're gonna have to start looking towards dialysis now." And then I went back again three months after that, and it had gone right down to seven. So they said "Right, need to go and have the catheter put in now." And that was the worst part about it, I must admit, because that was the unknown. Talking about it and being told about something, it's just information you're taking in, isn't it. But that was like an operation, and I was a bit dubious. Because I'd seen the pictures online, and when you have a tube sticking out of you, it's - I don't know, it's just - I thought it would be painful, it would be awkward, it'd be everything, and it wasn't. You know? They put it in and I was like 'oh, you big silly devil', anyway. You know? I wasn't really making a fuss to anybody else, just to myself. And I was like [sigh]. And now, just like a spare part of me. You know what I mean? I don't even think about it. And it's just there.

Dee explains how she made her mind up between haemodialysis or PD.

They told me I did have an option of the two. Because if you go onto direct renal failure, obviously they have to put you straight onto haemodialysis, because you need to be treated there and then. But because I was coming towards it, I had the choice. And I preferred the peritoneal dialysis, because of the two I thought it was less invasive. I'd rather have a tube in my tummy than, you know, veins and blood - that felt more serious to me at the time. So I thought this was the gentler one. And it is the gentle one. Because you can be on this five plus years, and then go onto haemo. It just extends the life of your dialysis, really. And it is gentle on your body. Because haemodialysis can tire you out a lot. And I did a lot of reading up about that, and asking people as well. And they feel very tired after they've had a treatment. Whereas on peritoneal dialysis, it's lovely, it's great. It's just, it's so easy on you and everything, yeah.

My kidney nurse, she took us to meetings. And we had meetings at Kidney Foundation, and there was a few other people there that were on dialysis. So I got to ask them what they thought about it, and what have you. But people who are on haemodialysis will say to you "You should go on haemodialysis." And people on peritoneal say "You should go on peritoneal." So technically at the end really I made my own mind up, because there were pluses for each thing. And I just thought for myself. I didn't really want to go to hospital three times a week, I wanted to be in control. And I think that's what keeps positive, I'm in control of my treatment. It's like when I go to the hospital now for a check-up, and they go to touch my tube - I'm like "No, I'll - I'll do that. What do you want?" But it's my - I keep it clean, and I know my hands are clean. I know that, you know - whereas they might forget, and rub their eye and then touch my tube. And, you know, so. [name] of course, she's the kidney nurse, she knows not to do that. But generally at the hospital. But we're allowed to do that, like [name] says, "You look after your tube, that's your - you know - you responsibility."

Dee describes feeling a lot better when starting dialysis.

I found out late on, it was in the last few months of working. But no, I was tired. I started in the, in the two years before I finished, I started having time off where I just felt generally [sigh] - not, you know, I couldn't put my finger on what was wrong with me. No illness as such. But I was just generally exhausted, tired out. But my arms were sore. And people, after the toxins you have inside you and what have you. You know, it's not surprising really. In my first month of dialysis, I nearly cried with happiness, I felt to good. You know, it was like 'oh my gosh'. I mean, I was sleeping better, and - you know - because you'd lie down and you'd get sore and aching. Which, general aches and pains. And like because you've got all these toxins in your system, haven't you. You know, you're carrying all that waste around with you.

Oh, I felt fantastic. First month I was like 'oh my gosh'. You know, everything felt light again. And my head - because I don't know if you've ever been described to you - it's cotton wool brain. And you have this like - and you can't get past this cloudy mugginess. And you're trying to think about something, and the more you think about it, the further away it goes. And it was like that. And halfway through a conversation I'd be like 'what were I talking about?' You know, like I was drunk or something like that. You know, my daughter would say "Are you alright, Mum?" I'd be like "Oh, I just feel a bit - you know." And I used to think 'oh gosh, I hope I'm not getting dementia or something like that'. Because I'd forget, you know, just standard things. But it's because of all the, the rubbish that was in my system. Yeah.

Dee says that having a good outlook helps her get through dialysis.

Well the doctors have all said to me, the reason why I'm doing so well on the dialysis and everything like that is because of my outlook. You know, I'm just - I'm grateful for it. And I don't think of it as life-changing, I just feel it's a supplement to my life, just something I need to do. I mean, it's funny, because my grandchildren, family, have been absolutely fantastic. So supportive. And as I say, the worst thing was finding out they had it as well. But they're not guaranteed to develop full blown, they can just be carriers. It could be with them and die off with them, or it could develop. So they don't know until they're older. But they've been so supportive. And it's been absolutely - yeah, fantastic. Really, really good. And [my grandson] went to school one day, and when I went to pick him up after school, the teacher said to me "Can I have a word with you?" And I said "Yeah, sure." And she said "Have you got any health problems?" I said "Yeah, I have. Why?" She said "Well [my grandson] turned round and said to me "My Grandma plugs herself into the mains every night" [laughing]. And I said "Well, technically." So I explained to her what it was, and they all call me RoboGran now [laughing]. "Look, it's RoboGran." So yeah, it's - it's good to have a good outlook on things, definitely. Yeah.

Dee felt her company supported her when she started making mistakes at work.

I was that tired, I was pleased. Usually when I'd been off work ill for anything, after a couple of days you're fed up and you're bored and you want to get back to work. With this one, I was off, and I was like "Oh gosh, thank goodness." Because I were just exhausted. I mean, I was at work and I drive buses, as I say, and the week before I finished on sick, I was pulling in to say a bus stop, and I was catching the kerb. You don't think that's much, but it is when you're driving a bus. You know, you've got to be - everything's got to be perfect. And I caught the side of a bus stop sign. I mean, that sign had been there for donkeys' years, so it wasn't the sign's fault, it was definitely my fault. And it was little things. I was making little mistakes. And I said "Oh hang on a minute, I don't want to be doing this, because your mistakes - little ones will lead to bigger ones." And at the end of the shift when I was coming back in, I was exhausted. I mean, I was so tired, and I knew I wasn't competent enough to carry on. You know? So I just said like you know, "I can't do this." And they said "Well don't finish. Let us go through the process." And of course [company] is such a big group, they backed me up all the way, so it was great.

Yeah, how did you feel? Did they support you?

Oh, yeah. They were incredible. They really were. When I was off on sick and things like that, they were absolutely smashing. You know, I had go and see the management - after you'd been off so long, you'd to go and see the management and things like that. He was the one that advised me what to do, and - you know - absolutely spot on. 

Yeah, what did they sort of say? How was the conversation?

They said they'd be sorry to lose me, but obviously they felt it was in both of our best interests, because I wasn't safe. And I knew I wasn't safe driving the bus. I wouldn't have gone back to work anyway. Either one way or another, I was going to finish. So when they retired me, I was really pleased about that.

Dee describes what she can and can’t eat on the renal diet and how she lowers the amount of potassium in potatoes by boiling them twice.

And what do you sort of follow?

Well your restrictions sort of grow with you, if you will. Because when you first start, if your kidney function is not too bad, you're a bit more versatile in what you can do. I've reached the stage now where my potassium has become a serious problem. And I could tell, because I was getting palpitations. It's like 'ooh gosh, that feels a bit funny'. And they did my potassium, and it's 6.1 - way too high, it should be 5.1. So that was like dangerously high. So they had to bring that down. So I had to avoid things like tomatoes, mushrooms, chocolate, coffee - gosh, the list goes on and on and on [laughing]. And then when you're on tomato restrictions, you can only eat so many potatoes because of potassium. So you can eat pasta. But you can't have a tomato sauce on pasta. You're advised to have creamy sauces. Well that's just calorie packs. So it's really - you've got to be so careful about what you eat and when.

Yeah, how does that affect your sort of everyday life?

At first, a lot. Because I was like 'flippin' heck'. I used to eat a lot of healthy stuff - salads, vegetables, tomato sauces on lots of things, baked potatoes. Can't have baked potatoes. You can have mashed potato, but you've got to boil your potatoes, strain them, put fresh water on and boil them again, then strain it off when they've finished and then mash them. Because they've got all the things out. Vegetables, you've got to cook them in water, drain the water off and then rinse them again to make sure all the potassium's leaked out. I used to steam everything, but you can't - you've got to boil it to within in an inch of its life [laughing]. But you adapt. You do. You know? So it's - you get round it. But I used to really - food used to be quite important to me, but it isn't any more. So, that's good. You know? It's - you do, you work yourself round it. But it's not a very healthy diet, the kidney diet. Because it's a lot of carbohydrates… sort of thing, but you've got to be careful - can't have too much fruit and too much everything else. And you have to have tablets with each meal. [Phosphate] binders, phosphate binders. Because you don't want a - you can have phosphorous overload. And that's as bad as potassium overload, that's bad for your heart. And when you've got kidney trouble the main thing you've got to do is look after your heart.

Dee researched everything she could online and as a result felt much better able to cope with dialysis.

You do get things from the hospital, but it's your basic information. I think you're supposed to use that to go and ask questions when you go and see the doctor again. But of course I just got online and researched everything I could. So a few questions - I had pages of questions when I went back in. But it's great, because the more you can find out, I think the easier it is to cope with, when you know the ins and outs and everything. Worst case scenarios, I researched that as soon as I found out about it. And I knew exactly what was gonna happen, when it happened. So when they said to me "You know, in the next few months you'll have to go on dialysis." It was like "Oh, gosh." Bit of a shock. But I researched it. And then when I went in on the day, he said "Right, now's the time you need to go on dialysis." I was fine. You know, I was like "Right, okay." Well, I knew that was coming. And it just - you know. And everybody says that's quite surprising because - even my doctor was surprised how well I took it. But I said "Well, I knew it was coming. It was inevitable, sort of thing, so."

Dee’s message is to keep active and continue working if you are able to do so.

Just carry on living as normally, until it takes that toll on you, where you have to change lifestyles around. If you can carry on working, do so. You know, if I had an office job or something like that, I'd have probably been alright and kept on with it. But you've got to be careful. If you're a machine operator of any sort, you need to be careful, got to think about the safety, and think about other people really, you've got to take that into consideration. But if you can carry on working for as long as you can, do so. Keep active. And I do keep active now, because I've got my dogs and my grandchildren and family. And sometimes I think to myself 'how did I fit work in?' But then again, I'm up in the morning. But I'm in bed for eight o'clock at night time. You know, that's guaranteed, because I'm falling asleep anyway, so.

But, yeah. Just try and carry on, and be happy.