Donna

Age at interview: 47

Age at diagnosis: 3

Brief Outline: Donna was diagnosed with X-linked Alport syndrome when she was 3 years old. She feels that the label of being a ‘carrier’ is a “misconception” and feels healthcare professionals should “arm patients with more details”. For Donna, diet and exercise are big influences on her kidney function and for this reason she tries to eat healthily and exercise.

Background: Donna lives with her partner. She works full time. White English.

More about me...

It was confirmed that Donna had X-linked Alport Syndrome when she was 11 years old through a kidney biopsy. She was told she was a ‘carrier’ and would not develop symptoms. Her dad who had Alport Syndrome sadly passed away when she was 4 years old at the age of 28. From a young age Donna had protein and blood in her urine. Since this time she had yearly check-ups. In her late teens she had genetic counselling which explained the risks of passing on the Alport gene. To this day, Donna thinks about her dad and his care leading up to his death. She has always wondered why he was not put on dialysis. She feels that she was not able to discuss anything with her mum at the time and therefore feels she had little support growing up. 

When Donna was 30 there was a mix up with her blood test results and she was told that she would need dialysis by the time she was 40. She had just gotten married and this had a huge impact on her decision not to have children. She later found out that the doctor had “muddled-up” her results with somebody else’s. On reflection she feels “gutted” about this, although she also says she enjoys her life with the freedom to go on holidays and go away for weekends without having children to consider. She would not have liked “that on her shoulders” had she conceived a child with Alport Syndrome. She also feels pregnancy puts a big strain on the kidneys.

Later on when Donna was 33 her kidney function began to decrease, but the doctors didn’t notify her at the time. It was only years later when Donna was 43 that she saw a report which showed this decline. On reflection she feels angry about this and says that “the health profession don't arm you with enough information”. She feels that doctors should tell you everything that... they can possibly tell you” and not take the view that “ignorance is bliss”. She thinks that more pamphlets and mental health counselling would be helpful for Alport Syndrome patients. 

A crunch point came last year when Donna was 46 and she was extremely ill. She contracted hepatitis E which she believes came from eating undercooked pork. Her kidney function dropped to 30 percent. She describes the experience as “horrendous” spending time in hospital and then almost six months at home recovering. 

Donna had also experienced painful periods for many years and says that sometimes she was too ill to go to work. Her employer at the time was not very understanding. When she was recovering from the Hepatitis E infection, she was also diagnosed with adenomyosis and endometriosis. Later that year she had a hysterectomy. After this, her blood test results showed that her kidney function had “plummeted”. She believes she was very close to dialysis. Donna feels that getting hepatitis E and undergoing a hysterectomy altogether “was just too much for my system”. 

Since getting ill last year, Donna has been trying to eat more healthily. She loves exercise and enjoys running and walking. She believes that leading a healthy lifestyle has helped to increase her kidney function back up to fifty percent. Donna currently has anaemia, high cholesterol and high blood pressure. She gets side effects from her cholesterol medication and would prefer to control this through diet. She believes that eating healthily “does help relieve symptoms of tiredness” and tries to eat more fruit, protein and balanced meals whilst cutting down on salt. She also gets side effects from her blood pressure medication and iron tablets. She is currently on antidepressants although feels this might be hereditary rather than directly linked to the Alport Syndrome. 

Donna likes to Google what her blood tests mean. She believes that increasing her knowledge means she can understand “what I’ve got to do to make myself better rather than relying on health professionals”. She thinks that “Facebook and all the groups, and internet, is absolutely amazing. I think it's fantastic that there's other people out there, that you can talk to and, and compare notes.” She feels she has gained a lot of knowledge from connecting with people online and searching for health information on the internet. 

Donna feels “devastated to think that as I was growing up, all I was ever told was that I  was a carrier” which she believes is a “misconception” and believes this is a “big hindrance in the knowledge of Alport sufferers”. Donna says that when she gets a cold it can really “take it out of her”. She feels that many people don’t understand this and that there needs to be more education on kidney disease, because the general public “can't see the disability” and so “people easily forget”. She now feels her hearing has started to decline. She also has eyesight issues. Donna feels that her current GP is “on the case” and takes her seriously. She feels this hasn’t always been the case with her care – with one doctor telling her that her kidney function was “normal”. Donna felt he treated her like an “utter hypochondriac” and found his attitude to be very “flippant” and “disrespectful”. 

She feels the most frustrating thing about Alport Syndrome is the prognosis because “every day could be different”. Her message to other people with Alport Syndrome is “enjoy your life. You've got to enjoy it. But do some exercise and eat healthily”. 

When Donna got ill with hepatitis her kidney function dropped dramatically and she felt devastated.

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. 

When Donna was 30 she was told she would need dialysis in the next 10 years which affected her decision to have children.

But then when I was 30, went and had my bloods, and they said "Oh, you'll be on dialysis in another ten years." I was like "Whoa. What, really?" And it turns out that they were actually looking at somebody else's blood tests. Yeah. And I didn't find - it took them years. The following year I went back, still believing that that was the case. And it was years before they actually said, "Well thinking about it, we probably got your bloods muddled up with somebody else." And I'd actually just got married, and we were contemplating having children. And that's why I haven't had children, because they told me when I was 30 that I was gonna be on dialysis. And we sort of discussed it and said "Well, we can't take the risk. Because one, I'd pass it on. And two, the pregnancy could put too much pressure on my kidneys, and I'll end up too poorly, and that'll be my husband having to look after both of us." So, yeah, because of that I never did have any children. 

And that was the reason, because?

Because they got my bloods muddled up with somebody else.

How do you feel about that?

Gutted. Because I do get broody now and then. But having said that, I don't know if it's because I haven't had children that I'm - I feel selfish, and I enjoy doing what I'm doing, and. I've got my dogs, you know, they're my babies. And I just feel, you know - I mean, I've sort of - I've lived my life to the full, if you like. And I just think 'well, if I had' - you have to put a positive spin on everything, don't you. You have to. And I do think things happen for a reason. And, you know, I've enjoyed my life, what I've done, the holidaying.

Donna says that having Alport Syndrome makes her more conscious of living each day.

I do read up about it, but that is the most frustrating thing with Alports, because nobody can give you a prognosis. It is literally just each day, as - you know - as I've found out over the last year. Each day as it comes, you know? Every day could be different. You know? Anything could happen. Like this cold, for instance, that I've been having for the last four weeks. That could have an effect on my kidney function. You know? It is just so frustrating that you just literally - all you can do is just take each day and enjoy it, and hope for the best. And help yourself by eating properly, and - and exercising. 

I do feel like - I mean, it - it's the same as, you know, any of us could get run over by a bus tomorrow. So, I do think - I still think 'oh, there's all these things I want to do in my life that I haven't done, that I've got to do'. And I think having Alports, you're more conscious and more aware of the fact that life feels more limited, than - you know - if you haven't got a condition like that. You probably don't even consider about, you know, how, where you're gonna end up. 

Donna says that she has ‘misshapen’ eyes and has worn glasses since she was 9 years old.

All I'll say is "Oh, well I inherited it from my Dad, you know, he died when I was young. And my kidneys, my eyes." I wear contact lenses, and I've got the stigmatism in the eye. So no, it's - it's very similar to what they describe, because its misshapen eye, isn't it. And there's, they use another term for the eye condition that you can get as an Alports sufferer. But it's very, very similar to the stigmatism. I can't remember what they call it. But yeah, I started wearing glasses when I was 9 years old. Yeah. So I'm guessing that's all part of the Alports. So that's as much as I can tell people really, yeah. It affects your kidneys, and my eyes, and possibly my hearing, because - 

Yeah, do you have -

I had a hearing test done when I was about 10 years old and they found that I was deaf to the lower tones. But I haven't had a test done since, and I do know that I need to go for one. I know, this - I'm not - you know, I'm always constantly, "Pardon? Pardon? What did you say?"

Donna didn’t get much support growing up but felt that later on connecting with others online helped a lot.

I've - yeah. I've just had nowhere, nothing to go, nobody to go to. And that is, to be quite honest that didn't help. When we was talking about depression, now thinking about it, that didn't help my depression as a youngster. I know I was at least suffering from depression from age 14. I know I went for tablets, and I went to get knives to self-harm and things. So I definitely think that having the Alports would have obviously been on top of everything else playing on my mind, because I had nobody to ask, didn't understand. So yeah, that would have, in that respect, as a youngster, put more - made me more depressed, because of the lack of knowledge. 

Yeah, so you were telling me about like when you were growing up, that you didn't get much information.

Yeah. Didn't have a clue.

So where did you sort of get your support from then?

I didn't have any support.

So it was just -

Yeah. Yeah. First lot of support I got was when [hospital] put me in touch with a genetic counsellor. That was when I sort of started to like understand that I'd actually got a condition that, you know, it's not good. You know, because up until then it was just the norm, and didn't know any different. But then obviously when I realised I was going to be having to make difficult choices in the future. But again, that was, only a couple of meetings with them to explain to me that it's hereditary and how it can get passed on. And then, and then I just went away with nobody to talk to. Which is - today, with Facebook and all the groups, and internet, is absolutely amazing. I think it's fantastic that there's other people out there, that you can talk to and, and compare notes. You know? You realise you're not going mad. You know? Because you do just - when you're isolated, you just - you do, you just think you're going mad, you know? I'm - you know, 'why do I feel like this? Why do I not feel well? What, what's wrong?' But with other people out there that you can just get it out with, and they say "Yeah, yeah. No, I understand that. You know, this is my experience." And I think, I just think it's fantastic. It's just so, so helpful.

Donna’s partner tends to forget about her condition because she doesn’t look ill.

Less red meat. And less carbs. You know? And more fruit and veg. Whereas I love my potatoes [laugh]. But yeah, so. And it, it's hard because my partner is - he just loves his red meat, and won't eat fruit or vegetables. So it's really hard to try to decide what to have in the evenings, to - you know - to help me. You know, and it's just getting to the point where I'm thinking we need to eat separate meals, because - you know - what he likes, which is what I've been eating over the last so many years, isn't good for me. He would eat minced beef every day of the week if he could [laughing]. You know, and I need to limit the amount of red meat I eat. And eat more fish. 

And does he sort of understand that it's obviously to do with the Alports, and?

And I do have to find myself regularly reminding him. That's the trouble. That's the one thing that I find with Alports/kidney disease, is because they can't see the disability, people easily forget. You know, and if I get a cold or whatever, like I've got now, its like "Oh, you've only got a cold." Whereas like do you know what, it's really, really taking it out of me. But they just, people just don't see that.

Donna thought last year she might have to go on dialysis. Since then she has become more conscious of eating healthily.

It is only since last year, when I ended up in hospital, and thought 'I'm gonna be on dialysis', that I suddenly - every time I have a blood test now, I get the results, I have a look at them, I study them. You know? Google what's good, what's bad. And , so I see - actually seeing a renal dietician next week, to give me more guidelines on where my bloods are at. So, what I should avoid, what's good. I've been eating a lot more fruit. But I've got high cholesterol as well. Again. And high blood pressure. So [laughing]. But doesn't matter how many iron - amount of iron tablets I take, I'm still anaemic, so I get tired a lot. But eating healthily, more healthily, does help relieve symptoms of tiredness. That's what I've found, anyway, I don't know if it's just mentally putting a positive spin on it, that 'oh yeah, I'm better now', you know? But-. Because being single - sorry, not having any children again, you haven't got to grow up with your - you know - Chinese takeaway tonight, kebab tomorrow night. You know? And I have been very naughty. But yeah, so probably the last six months, I've started eating more fruit. Protein. So I have - I make myself an egg bake once a week, where I have egg, broccoli, mushroom, onion, and some low fat cheese, for breakfast. Rather than before, I would have toast with lashings of butter. Obviously no good for the cholesterol [laughing]. Having soup for lunch, rather than sandwich or chips, or - you know - something naughty. And then a healthy meal that the majority of people would eat normally, but I was very lazy, very naive, and just ate what I wanted to. 

After being ill with hepatitis last year, Donna now takes diet and exercise much more seriously.

I'm finally taking it seriously. After what I went through last year with hepatitis, and then ending up back in hospital with kidney failure, thinking I was gonna be on dialysis. It, it's just made me finally take it seriously, and grow up a bit, I think. Right, you know, after what that renal nurse told me - exercise and diet is the best thing for me. That's it, that's what I've got to do. You know? The fear of being in hospital last year thinking I was gonna be on dialysis, and I couldn't do all of these things that I want to do, that's it. Now that I'm armed with knowledge, and I know what I've got to do.

Again, from what the renal nurse said, all I can say - the only thing you could do for yourself is fitness. Look after yourself, and eat well. You know? I've seen a difference in my , in myself, when I've been healthy, healthy and fit. How sort of slowly the numbers went down, with the Alports. And how quickly they can rapidly change when I've been on a poor diet, and - you know - not exercising. More so that you do have less energy, as well. You know? I wish - probably if we was having this conversation in a year's time, after I've had a year of being healthy and fit, fit again. You know, and I go and have some more blood tests. I wish I could say "Yeah, I'm fantastic - you know - everything's great." So you've have to chase me in a year's time and see how I'm doing, because as I say, I've only just literally - haven't gotten over all of last year's issues. I've literally just got the dust off my walking boots, and - and got the veggies, and the, the salads out again, and the, the fruit. So , I think that's - that is it, basically. Enjoy your life. You've got to enjoy it. But do, you know, do some exercise and eat healthily.

There had been a mistake with Donna’s previous test results and later on she was not told about her kidney function decline as it was happening.

Yeah. I still didn't feel - at one time, again, like I - when I was 30, and I'd just had the doctor tell me that I was going to be on dialysis by the time I was 40 they then did me another blood test probably the year later. And obviously I was anxious to get my blood test results. So I was phoning up [hospital], "Are they there yet? Are they there yet?" There was a doctor there who funnily enough I have conversed about, through Facebook, with other sufferers, not known for his sympathy or empathy. He just "Oh yeah, you're alright, don't worry. Your kidneys are normal." That was his answer. So I, I wrote quite a stroppy letter saying 'if my kidneys are normal, why have I been coming here for the last thirty years?' You know, that is just so disrespectful, how could you tell somebody your kidneys are normal? And at that time, my kidneys were at about seventy five percent, I believe. And which they class as normal. But it's - how can you say that to somebody? You know, "Your kidneys are normal." I just found that so disrespectful. And he was just so flippant about it. And he's still there today. I just make sure I don't see him whenever I go [laughing].

My kidney function was okay. Like I say, it's sort of between seventy five and fifty percent, until this last sort of seven years. And I had - really didn't, didn't think about it. You know? Once I finally realised that they had made a mistake, I didn't let it upset me or anything. But I wasn't, I was doing a lot of exercise. I was, a gym fanatic at the time. My ex-husband was - he was sports centre manager, and then went on to go onto the college to teach students what he learned at college, if you like. So sports was his life. So I used to do a lot of 5k runs, we did 10k runs. We used to go up to the lakes every year. I've climbed Ben Nevis. And he, so him being a health and fitness fanatic, I was at my best ever, ever. Sorry, excuse me. For, you know, I was at my healthiest ever. Just enjoying life really, you know. We just, we did loads, always doing something - walking, running, in the gym, swimming. And I was just - once I knew they'd made a mistake, you see - but then again, having said that, once I knew they'd made a mistake, I'm back into the notion of 'I'm just a carrier, I'm gonna be fine' [laughing]. So it just, it was furthest from my mind, you know. We went every year to [hospital], "Yeah, you're okay, you're okay, you're okay." But not realising that the numbers were just slowly decreasing from seventy five. Was then finally I think in 2012 they actually give me a report. And it shows the figures since about 2002. And it shows how, the slow decline. Which again, angers me because they never told me that they were declining. So again, the health profession don't arm you with enough information. I know on one of the Facebook posts, a lady - a doctor had known about her kidneys deteriorating slowly, but only told her when she'd already reached stage three. And I think that's just disgusting. I think if there's any alteration, surely you should be armed with that knowledge, to deal with it how you want to deal with it. You know, that poor lady, she could have stopped herself from ever getting to stage three, had she have known. You know, just by making small changes in her diet and lifestyle.

Donna advises others to get healthy and fit and enjoy life.

Again, from what the renal nurse said, all I can say - the only thing you could do for yourself is fitness. Look after yourself, and eat well. You know? I've seen a difference in my, in myself, when I've been healthy, healthy and fit. How sort of slowly the numbers went down, with the Alports. And how quickly they can rapidly change when I've been on a poor diet, and - you know - not exercising. More so that you do have less energy, as well. You know? I wish - probably if we was having this conversation in a year's time, after I've had a year of being healthy and fit, fit again. You know, and I go and have some more blood tests. I wish I could say "Yeah, I'm fantastic - you know - everything's great." So you've have to chase me in a year's time and see how I'm doing, because as I say, I've only just literally - haven't gotten over all of last year's issues. I've literally just got the dust off my walking boots, and - and got the veggies, and the salads out again, and the fruit. So, I think that's - that is it, basically. Enjoy your life. You've got to enjoy it. But do, you know, do some exercise and eat healthily.

Donna would like health professionals to give patients all the information they have.

Well I think that they should arm the patients with more details. 

I've never - you know - it's only recently that we've had joys of the internet. You know? If I'd have known more, I - I probably would have had a healthier lifestyle. I'd, you know, have weighed my enjoyment of night clubbing with healthy lifestyle. You know, you can do both. Yeah. I think they really should be arming patients with all the information that they've got, that they possibly can give them, for patients to decide where they want to take it, what they want to do with it. It just seems that they're reluctant. You know, and they do sit - like they still say 'oh, you're a carrier, you'll be okay'. That's not the case. We now know through social media - I've found more out through social media than I've found out from health professionals. You know? And that's wrong.

If the doctor - all I'd have ever probably found out from [hospital] is my numbers, my GFR. You know? This is where you're at with your kidneys. That's, that's all the information they've ever given me, to be quite honest. And then they've told me "Oh, you need blood pressure tablets, you need this, you need that, you need the other." But with social media and web searches, you can find out how the blood pressure is linked to the kidneys. And how, you know - they have said to me "Oh, take - you know - reduce your salt intake." But it's from I think a site like Alport UK, where they've actually got - and I've got it on the back of my larder door - a thing that shows you what's high in phosphate, what's low in salt. You know, so you can make your own food choices. But I've never been given any of that information from any professional. I've got that off the web, you know, off various websites, to help me with my eating. And so helping with blood pressure, helping my cholesterol, I've had no information.

Donna feels it is necessary to have “proper” counselling because genetic counselling is more about understanding information.

Yeah. As soon as they know, and you know, that there's something - there's a condition of some sort, they should really, really tell you everything that… they can possibly tell you. Probably not then and there, because you'd probably be a bit shell-shocked. But, you know, they should have more pamphlets, and more counselling. So that you can absorb yourself with all the knowledge that you need. You know, I grew up and there was nowhere to go, to ask about anything. I grew up believing I was just gonna be a carrier. I didn't have children, because of that. Still only fifty percent. Probably if I hadn't have spent ten years running, and having a really good healthy lifestyle, I could be further down the line, you know, than fifty percent. So, definitely, had I had more knowledge when there wasn't a website out there to search.

And you mentioned counselling just there. Do you think that's important for people with Alports?

I do. Yeah. Again, the only type of counselling I had - they call it counselling, but since I've had mental counselling - it's not counselling, it's just like an information thing, about the genetics. You know? They inform you of the fact that it's fifty percent chance of passing it on, and then it's worse in boys than it is girls. I wouldn't call that counselling, even though they say "Oh we'll put you into some genetic counselling." I do think people need proper counselling, and so that you can actually deal with everything one on one, you know? Have a few sessions so you've got all the information that you need. To , to use it at your will.

So, not like necessarily genetic - 

No. No.

- factual -

I think like a kidney nurse or somebody. Like I say, the lady that I met at Christmas, who did a dissertation on kidney disease. She would be, you know, fantastic. [Tape 3, 41:54] You could have an hour session with her, you know, once a week, once a month, whatever. You know? Because each time you're gonna want to know more, understand more, you know? From one answer comes another question. So I do think kidney patients should have a bit more medical awareness, from professionals. 

And support then, for dealing with those questions.

Yeah. Yeah. That's it. And once you've got all of the questions answered, again, we know that there's no prognosis. You just need to know all the facts, so that you can deal with it in a better way. You know, my Dad died at 28, his mum died at 28. I thought I was gonna die at 28, because I had nobody to tell me any different. Do you know what I mean?

So you needed someone to go through that with you.

Yeah. Yeah. I needed somebody to help me, to guide me… It's just a coincidence that they were both 28. And my Dad was 4 when his mum died, and I was 4 when my Dad died. So, you know? [Laughing]. With everything I'd been through in life, everything that life had thrown at me, you know, you'd think - gonna die at 28. I think that's probably why I partied hard… No health professionals to give me any guidance. I had no understanding, no concept of anything whatsoever, so.