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Alport Syndrome

Messages to healthcare professionals

The people we spoke to had several messages for healthcare professionals. Many, like Kevin and Steve said they valued the NHS and were grateful for the care they received, particularly if they had a transplant. Some recalled examples of excellent care, such as during pregnancy (antenatal care), and having a good relationship with their doctor. People also made suggestions for improvement. 

Many people acknowledged that Alport Syndrome was a rare condition and appreciated when their doctor had some understanding of it or had taken the time to find out about it. People spoke about having good relationships with doctors who were knowledgeable. Debra felt it was a doctor’s duty to try and research or read up on Alport Syndrome if they had a patient with it. Richard X said he was pleased that more junior doctors seemed to be more aware of Alport Syndrome than in the past. Angela felt that it would be useful if doctors were aware of Alport Syndrome when making a diagnosis.
 

Michael Y says that he appreciates his doctor’s knowledge and openness.

Michael Y says that he appreciates his doctor’s knowledge and openness.

Age at interview: 25
Sex: Male
Age at diagnosis: 24
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Obviously knowledge of whatever you specialise in. I've had GPs in the past who are pleasant enough, and know what they're doing, but it's always kind of seemed like a business meeting, and not really like a patient-doctor experience, sort of thing. And my partner, when she was growing up in [suburb], which is a slightly more deprived area of [place], she was saying - and she's moved now, but she was saying how the doctor care there was really quite terrible, compared to the middle class areas she sort of, sort of lives in now. Like they were wanting her to do like pregnancy tests when she was like 16 and things, when she had things wrong with here, just in case she was pregnant. And things like that. Whereas in the new doctors surgery where she goes, it's very nice and pleasant. I think it makes a big difference to appointments and going to see your ,your doctor, and things like that. Because if [doctor] wasn't as lovely as he is, I wouldn't sort of [laugh] - be like, 'oh I don't want to go', or anything like that. Or 'I don't - wouldn't really enjoy our meetings'. But I do enjoy our meetings, he's very knowledgeable, as I said.

So, sort of knowledge. But like more than that. Approachability, sort of.

Yeah. And he's very open. Like he has my phone number, and like I said, yesterday he just texted me out of the blue saying, you know, "Do you mind if I call?" And things like that. He's very attentive. Like if when I got my genetic test done, I knew it was gonna be three or four weeks until I get the results. You know, as soon as he got them back, he sort of called me. Even though it's eight in the evening, or something like that. He didn't want to sort of wait for our next appointment. He phoned me and asked, you know, "I've got the results, do you want them now? Or do you want to wait?" So, yeah. It's a pleasant experience.
 

Jayne would have liked doctors to put “two and two” together and come up with her diagnosis. Instead she suggested that she might have Alport Syndrome.

Jayne would have liked doctors to put “two and two” together and come up with her diagnosis. Instead she suggested that she might have Alport Syndrome.

Age at interview: 40
Sex: Female
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And I mean I don't know if it would have helped, and I don't know if they could have done it, but we were such a long time between the Alports diagnosis and the hearing, it was - they didn't put the two together. Like they, the hearing people did say, "Oh, this type of hearing he's got, have you anybody else in the family?" If they'd have looked at my medical records, they would have seen that I had nephritis. I managed to put two and two together, you know, maybe if they'd have done that, it wouldn't have been me, up to me to battle it out so much. You know? But I don't know if they've the resources to do that, you know? Yeah.
For Steve X it was important to have doctors who listened to him. Robin felt that doctors shouldn’t assume that a patient knows and understands everything, and that they should be willing to explain things again. People often felt they knew their own bodies best and wanted to be taken seriously if they had a particular symptom or side effect. Others valued having continuity of care.
 

Jago and Wilf feel it’s important to see the same GP to build a relationship with them.

Jago and Wilf feel it’s important to see the same GP to build a relationship with them.

Age at interview: 17
Sex: Male
Age at diagnosis: 11
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Wilf: It's important to have the same person, I think. It gets a little bit, little bit hectic being exchanged from one GP to another.

Jago: Yeah.

Wilf: And the familiarity, seeing the same person, the same face, updating them. It's –

Jago: Yeah. Because you can kind of build a relationship with them, and you're comfortable talking to them about anything.

Wilf: Yeah, yeah.

Jago: Like any queries, any problems that you may have, related to the topic. So that's a really helpful thing, if it's just one person. Whereas if you're seeing multiple GPs or something, or you're being transferred, it's quite difficult. Because there's a lot more going on in the process. 
Debra, Steve and Lucy felt it was very important for patients to be fully informed. Lucy didn’t want to be protected from the truth and wanted straight answers. Patrick said “medical professionals should be ready to completely and fully inform the patient on what he's got; what the ramifications are.” Others said that they wanted to know if their kidney function tests showed any changes or decline, and for this information to be shared with them.
 

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

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

Age at interview: 47
Sex: Female
Age at diagnosis: 3
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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.
Several female ‘carriers’ said they wanted more information for them specifically. Alison, Donna and Karen wanted more attention to be given to the female side of having X-linked Alport Syndrome. People who had rarer forms of Alport Syndrome also wanted more information tailored to their needs. Michelle felt there was a lack of information on autosomal recessive Alport Syndrome for her children (see also Alport Syndrome - getting information).
 

Karen feels that doctors need to follow up women with X-linked Alport Syndrome and not just treat them as ‘carriers’.

Karen feels that doctors need to follow up women with X-linked Alport Syndrome and not just treat them as ‘carriers’.

Age at interview: 42
Sex: Female
Age at diagnosis: 33
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And would you give any messages to healthcare professional – doctors, nurses?

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.
 

Deborah would like more information about people with autosomal recessive Alport Syndrome and to find out what is happening to them.

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Deborah would like more information about people with autosomal recessive Alport Syndrome and to find out what is happening to them.

Age at interview: 36
Sex: Female
Age at diagnosis: 13
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And what message would you give to sort of healthcare professionals, if you wanted to give them a bit of advice or anything, or?

[Laugh] stop sending information about X chromosome [laughing] to everybody. I know it's the - almost like the default, because it's the most common version. But, unless everybody has the DNA test, I suppose they'll just automatically assume it is the X chromosome. And I realise that it's expensive to do DNA tests, but maybe like, yeah. Maybe a few more people need to have them, and then they can distinguish who has what type.

I've never read anything about someone with the autosomal recessive Alports. So I kind of think well you don't really know what's gonna happen until I get to that point in my life. I remember at one point being told that people with - I think when I was younger and they presumed it was the X chromosome, is that - you know - boys would have needed a transplant by the age of 30, but whether since then they've found out more research that that's not necessarily trued. Yeah. But, been and gone 30 myself and I know I'm not a boy, but [laughing]. But I've not had any, any - yeah - any like symptoms since. I still feel exactly the same as I was probably when I was younger and they stumbled across it, so.

So it'd be interesting to see other people who have autosomal recessive, and see what's happening with them.
For some people, like Steve, Lucy, Kevin, Jago and Wilf, it was important to talk to others with Alport Syndrome and to deal with the emotional and psychological effects of living with it (see Alport Syndrome - getting information). Support was vital, whether this came from family and friends, through counselling, or connecting with others in the same situation.
 

Mary, Phillip and Karen feel it is important for people with Alport Syndrome to talk about how they’re feeling.

Mary, Phillip and Karen feel it is important for people with Alport Syndrome to talk about how they’re feeling.

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What would you want to see changing, or?

Mary: Just to help –

Phillip: Well I said some information.

Mary: And support.

Phillip: Yeah, the support.

Mary: The support. I think for them young lads. 

Karen: And if they ask for it, make sure there's a quick turnaround time, so people do actually get it. Because for a man to ask for it –

Mary: More so if they say –

Karen: - there must be something there, mustn't there.

Phillip: Yeah.

Mary: I think more so for them young men, isn't it. And girls.

Karen: Yeah.

Mary: If they, they're sick. Like there's something wrong with them.

Karen: Yeah, I don't know whether the later appointments focused on just the physical and not them mental, we don't know. I don't know. 

Mary: It was physical.

Karen: Mmm. They did like all his blood tests didn't they, and stuff like that, when he went back. But you don't know is it focused on the mental side as well as the physical side, yeah.

How he's feeling, yeah.

Mary: Mmm. I don't think he would do.

Karen: Don't know what approach they take.

Mary: I don't think it would be on mental, I think it was more physical, that you were alright in your body.

So you feel that it should be both.

Mary: If the other's alright, yeah.

Karen: I think definitely, yeah. Because one has an impact on the other, doesn't it.

Mary: Mmm.

Absolutely. Yeah.

Karen: And then it's just a way of encouraging people to talk a bit more about how they are feeling.

Mary: Well I think even if you have an illness, you have a bit more down more so, than if you're alright, aren't you. You'll have more down days, I think.

Karen: Mmm.

Mary: And like Karen said, and just being able to talk to anybody. You can ring somebody up and say how, you know - even if you never had it, you could just say how somebody else felt, couldn't you. Really.

You know, I don't think you have to be the brain of Britain, have you. Well, I don't think so, now. Just being there, and being able to talk one to one, and just say what you feel, isn't it.

Mary: And sometimes, if they want to talk to somebody else, it's better than talking to a mother or a father. Isn't it. Mmm. You would, wouldn't you.

Phillip: I think especially people who have the same, same illnesses.

Mary: Same things, yeah.

Phillip: Obviously gonna be beneficial to , to talk to other people, isn't it.
 

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

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

Age at interview: 47
Sex: Female
Age at diagnosis: 3
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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.
 

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

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

Age at interview: 35
Sex: Female
Age at diagnosis: 16
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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.
 

Jago and Wilf talk about meeting others at an Alport UK information day.

Jago and Wilf talk about meeting others at an Alport UK information day.

Age at interview: 17
Sex: Male
Age at diagnosis: 11
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Jago: I think it's –

Wilf: It's great.

Jago: Yeah, I think it's a really good thing. Because we have these information days where a lot of people - because it's such a rare disease, their GPs might not know much about it. So when they come and see other people with it, then they get knowledge from that, and they pass on knowledge to them, and it's just really good because everyone just comes together. They see people in the same condition. And they, they might realise that actually it's not that bad. Because we had a little boy who thought that he might never be able to play football again. But it turns out that that's really not gonna happen, because he really - you definitely can play football for a long time, maybe not during his transplant process. And maybe not as much through dialysis if he has that. But it's not going to affect him that much. And football is something that he really loves. So he was great. He was really happy by the end of the day. Which is really good, so.

Wilf: It's good for reassurance as well, because –

Jago: Yeah.

Wilf: - the odds of you walking across a person with Alports in the street is so little, because it's such a rare disease. It just reassures you that, you know, lots of people go through the same thing. And it's not just you. They're all in the same boat.


See also: ‘Alport Syndrome - getting information’, ‘People’s attitude to Alport Syndrome and their outlook for the future’ and ‘The emotional side of living with Alport Syndrome and where people found support’. 
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