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Alport Syndrome

Experiences of genetic testing for Alport Syndrome

Many people we spoke to said that they had gone for genetic testing and genetic ‘counselling’. Testing and genetic counselling were talked about interchangeably. Genetic tests included giving a blood sample, as well as a discussion of family history and previous test results (e.g. kidney biopsy results). Genetic counselling usually was a discussion with a geneticist or genetic counsellor about the inheritance of Alport Syndrome – the likelihood of passing the Alport gene onto children – and also, for some people, finding out where the Alport gene came from. Most people were referred to genetic services by their kidney doctor or consultant. People said that going for genetic testing and considering the genetics of having children was emotional and sometimes very difficult. Neil and Diane, and Lucy said that they were pleased to find out the facts at their genetic counselling appointment. Sarah, Katie and Karen said that when they went a family tree was drawn and explained.
 

Professor Frances Flinter, Consultant Geneticist explains what usually happens when people are referred to her for an appointment.

Professor Frances Flinter, Consultant Geneticist explains what usually happens when people are referred to her for an appointment.

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So, most families who are referred to me are referred to me by a kidney doctor. Occasionally I get referrals direct from GPs. I will see the family, take a very detailed family history on both sides. Obviously what I'm particularly interested in is whether anybody else in the family has had kidney problems, is known to have blood in the urine. Particularly if they're also known to have had hearing problems associated with that. And then I will identify the person that is most likely to give us an answer if we arrange genetic testing. And that's not necessarily the youngest person in the family. It may be that there's an uncle somewhere who's definitely had significant kidney problems, perhaps a kidney transplant. And it may make most sense to test him first, because we're most likely to find the answer there. And then once we've discovered his mutation, we can test other relatives, in what we describe as a cascade fashion, step by step, to see whether they've inherited the same alteration as has been identified in the first person we’ve studied. And in genetics we've referred to that person as the proband, it's the person at the heart of the family, where we initiate our genetic testing and get the information that we need to be able to test other people and find out whether they have inherited Alports or are carriers of the type of Alports that's in their family.

So we just take a small blood sample, three or four mils of blood. And we put it in what's called an EDTA bottle, it's a little pink or purple capped- topped bottle. And that goes to the laboratory where they extract the DNA. And they then sequence the type 4 collagen genes. Or more specifically, three particular sub groups of type 4 collagen genes. It's the genes that code for the alpha 3, alpha 4, and alpha 5 chains of type 4 collagen. Now the alpha 5 chain of type 4 collagen is coded for by the gene on the X chromosomes. So if there's a mutation in that gene, we now know that the proband has X-linked Alports. The alpha 3 and the alpha 4 chains both are involved in autosomal recessive forms of Alports. So if we find mutations in one or other of those genes, we know we're dealing with recessive Alports.
 

Michelle felt that the geneticist explained things really well to her and her daughter.

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Michelle felt that the geneticist explained things really well to her and her daughter.

Age at interview: 47
Sex: Female
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Yeah, they gave us the diagnosis of autosomal recessive Alport syndrome. And that was through [the doctor] at the genetics.

How did you find the care there?

She was brilliant. And I can't remember what she - but she just drew us a picture. Because I went up, I went up with my Dad first, to hear it all. And then, then she drew a picture. And she was lovely. And really explained it. And then she said when the children are old enough, they could go up. And I came back and tried to explain it all to [my daughter], and she said "Well actually, I want to hear it as well." And so [my daughter] and I went up, and she again drew little pictures and explained it all to [my daughter], and gave [my daughter] the opportunity to ask questions as well. Which was really nice. Yeah, they were brilliant. And obviously they keep all your, all records. And she said at the time "Things are constantly, constantly changing." She linked it with cancer and said, "You know, ten years ago people were dying from cancers but now they're surviving, because of genetics and because of testing and research, etc., etc. Your information is really valuable, because it will help people, and help you, and help their knowledge and things."
 

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

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

Age at interview: 51
Sex: Female
Age at diagnosis: 48
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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.
 

Lucy felt the geneticist was very supportive and non-judgmental.

Lucy felt the geneticist was very supportive and non-judgmental.

Age at interview: 38
Sex: Female
Age at diagnosis: 8
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They [the hospital] have a joint clinic with the nephrologist and the genetics – renal genetics - which is really, really great. It's so good, it's so supportive, so I generally see a, you know a kidney doctor there and but the geneticist is in the same office and we've seen him; we've had appointments with him several times and he's also been available very kindly, you know when I've been in for my routine appointments, if I've had anything I want to just run past him which is just incredibly supportive. My husband and I have seen him, we saw him before we started trying for our first child to talk about the genetics of X-linked Alports and how that would work. We talked about my family, my parents and my siblings and you know the chances that there was some Alports potentially in the family and agreed that that was, that was able to be ruled out because the men would be showing symptoms and my sister had, actually she had a genetic test at some stage before she started a family just to rule it out. I don’t think my parents have ever had a genetic test but…

So that was really useful. We talked about the, obviously the sort of statistics, the odds of having children with Alports which we knew anyway from our own research by that stage. We talked about the implications of that in terms of their health. He was excellent to talk to; very non-judgmental, very, you know open to just giving us the facts and, you know only advising us in the sense that -, of saying things like, "You may just want to consider who you talk to this about. So, you know maybe don’t talk to too many people about it because people do have a view and it may not be -, it may be slightly painful for you to hear that view." So that was good advice actually that we -, we did take on-board. And he was also quite encouraging because obviously, you know being based in the same clinic he has a lot of expertise in the current research, and even back then which was ten years ago now nearly he had some fairly encouraging news about what's involved with kidney patients because my understanding, my experience of people who I've known who've had problems with their kidneys has, you know it's not been good, it's not been a good way to go and, you know one person in particular I remember being extremely poorly with it and you know it's not something you would wish on anybody. But things have come on you know. Transplants are far more successful; dialysis is much more of an option now than it used to be and so he was -, he was encouraging in that respect. The reality of it, you know the statistics, the odds, never changes; that’s always what it is. And at the time he was able to give us some information about statistics again in terms of the ages at which people with Alports become, or show symptoms, become poorly or show other symptoms. I think at that time he didn’t mention ACE inhibitors because I don’t think that was anything that was on the horizon at that stage, so there wasn’t a treatment at all at that stage.
For many people, talking about family planning decisions at genetic appointments brought up a range of emotions and moral dilemmas (see Alport Syndrome and reproductive choices). Michael X felt that the area of genetic research gave a lot of hope to people making choices about children although he also felt it was a very difficult and complicated area when medicine “meddles” with conception. Richard X felt strongly that he couldn’t understand arguments about “designer babies”. Others said they found such decisions tough and difficult and it was a very personal choice or decision to make. 

Genetic testing and counselling happened at different times for different people. Michael’s diagnosis spurred his siblings to be tested and finding out they were “in the clear”. For Dee, similarly, her son’s side of the family were given the all clear. For Karen, genetic testing confirmed her suspicions that Alport Syndrome was in her family. For Jayne and Steve, genetic testing was offered after they both had children. Jayne’s consultant thought she had Alport Syndrome, and genetic testing confirmed this. Dee had genetic testing after her diagnosis to find out where the Alport gene had come from. Paul and his brother, were part of the very first genetic studies of Alport Syndrome families in the UK. Alan had his genetic testing in the 1980s which gave him (and his family) a diagnosis of Alport Syndrome.
 

Paul and Christine said they had genetic counselling before starting a family.

Paul and Christine said they had genetic counselling before starting a family.

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Paul: Well we didn't know about the genetic side of it, did we, until after we were married. 

Christine: No.

Paul: Or at least the passing on off the Alport.

Christine: So we went along to see someone in the genetics department up at [name] hospital. And they explained, you know, how it would pass on in our family. Because obviously it's different, depending on whether it's a male or female passing it on. And so once we had the information, we still decided that we still wanted a family. I think in your words, you would have said - and you did say, didn't you - that if Paul could have had his life all over again, would he still have done it? Because you've got to think if you bring children into the world, would you - how do you feel about them perhaps going through a similar situation. And you always said that you would always still want to live your life. It wasn't something - there were good and bad, highs and lows, but all in all he would have wanted to live his life, so. And also, there was a lot of research going on. And they were saying how they were researching into our family genetics. And then, thinking maybe if we had children in the next few years, and by the time they needed to grow up and think about having their families, a lot of research was going on. So hopefully research would have moved everything on, to be more positive, maybe. So we didn't let it stop us having a family.

Paul: No.

Christine: But it's important to go into it, understanding the pros and the cons, and what to expect.
 

An appointment with genetics prompted Steve to pay more close attention to his own health.

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An appointment with genetics prompted Steve to pay more close attention to his own health.

Age at interview: 37
Sex: Male
Age at diagnosis: 3
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So we agreed to go and see geneticists at [hospital] in London, and we went there to see, to see the professor there – [doctor] – and she advised that my daughter would carry the condition because genetically it's linked for me to pass down to any daughters on the X chromosome. But she focused on me mostly because I was thirty three and I still hadn’t had a transplant and, so yeah it wasn’t until that time that I really started to consider the fact that maybe the doctors had been wrong and that perhaps I should have been looking more closely at my blood test results and really thinking about, you know, myself and my health as I'm going along. And it wasn’t until that evening that I went home and Googled for the first time the symptoms of kidney failure, and on the NHS website it gave a list of ten individual symptoms, and of the ten there I had eight. So, I went back to the doctors the next day and they did a blood test there and then, and the doctor rushed the test through because he looked at the previous two years results and saw that both tests had indicated that I was in like the end stage of renal failure and they just hadn’t really told me. So, yeah that’s an entirely different story.
Genetic results were often sent by letter. People said this frequently took 3-4 weeks to receive from the time of testing. However, some were told it would take longer; Michelle was told she might not know anything until the following year as the samples needed to be “cultured”. Alison felt it took forever to get her results back. Some people like Michael Y received their results by phone call. Jayne received a phone call at work from her consultant who was “quite abrupt” on the phone when telling her the diagnosis. Frances would have preferred a meeting face to face rather than the letter she got confirming her son’s diagnosis. For many, the results of genetic testing brought up different emotions and feelings. For some people the results were confirmation of what they already knew and, as Karen said, “not a big thing”. Jayne she said she cried and was in shock.
 

Michael Y got a phone call from his consultant to tell him about his genetic test results.

Michael Y got a phone call from his consultant to tell him about his genetic test results.

Age at interview: 25
Sex: Male
Age at diagnosis: 24
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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.

I was in my partner's flat, just about to eat dinner [laugh]. And then [doctor] just phoned me. Which is fine. I mean, I'm not one for drama or anything like that, so. And I didn't want to wait until - I think this was in November, and the next appointment was sort of in December, end of December, so I didn't want to wait until then.

My surprise lasted about sort of a couple of hours from the initial urine test, which is completely instant, to just going back to doctors, getting blood and urine done, sort of going home and just being like 'ah, crap' [laugh]. And then sort of levelling out from there. Yeah. So my surprise was very short-lived.
 

Neil says that they felt disappointed when they found out their children inherited the Alport gene.

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Neil says that they felt disappointed when they found out their children inherited the Alport gene.

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How did you feel about the genetic counselling back then?

Yeah, it was good to know all the facts before - you know - before we went in, went ahead. You know, obviously we were disappointed when we found out they did, you know, inherit it. I think especially with [our son], because he's a boy. You know, particularly I think it hurt. And with [our daughter], we kind of went okay. But, you know, really hope she hasn't got it. But, you know, okay she's a girl, hopefully it'll be a lot later in life anyway. But we thought, you know, we'll cope with it, we've been through it, we know what it's like. You know, we know from an early age that she's - you know - the problem. So we'll just have to try best we can. Support him as much as we can really. I mean, it's good that he's gonna have hearing from an early age, so it's not like he was gonna be born with hearing problems, because that's I think much, much worse. At least, you know, he's gonna be completely normal up until 10, 11, 12, and then it's gonna be a slow decline. If it happens at all. You know, so there's a good chance it won't happen. You can hear him now, he doesn't seem to have any problems at the moment [laughing].
 

Alison feels the results of her genetics appointment were vague and that she doesn’t have a definite diagnosis.

Alison feels the results of her genetics appointment were vague and that she doesn’t have a definite diagnosis.

Age at interview: 33
Sex: Female
Age at diagnosis: 20
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I didn't have to do anything. I just went along and she spoke to me about - asked about family history, and I guess she looked at the kidney biopsy. 

So that - was it just then you then got a definitive diagnosis?

This was some time after that meeting with the genetics, yeah. There was tests that had to, that had to go to London for various testing. And that seemed to take forever.

So it wasn't until much later. Do you remember who sort of told you, or?

It was very vague. I actually had to ask the hospital, because it's been really vague in actually getting somebody's actually sitting down and saying. Like I think if I was to ask them just now, they would say they can't be a hundred percent certain it is Alports. So I've - nobody's actually said it's definitely Alports syndrome that you have.
 

Amanda said her whole world crumbled when the letter said her son had Alport Syndrome.

Amanda said her whole world crumbled when the letter said her son had Alport Syndrome.

Age at interview: 39
Sex: Female
Age at diagnosis: 33
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Did you know then at that point that there was Alports in the family? Or that you –?

I did. I did then, when I - Because I had told them when I was pregnant that my Grandpa had Alports. But nobody really - I don't know if there wasn't a good understanding of it, because it is such a rare condition. But it never - nobody kind of linked that this is possibly where I've, I've got this from, that it was a good chance I've , that I'd definitely have Alports. So yeah, no. Two inconclusive biopsies, and not until obviously my son was getting checked out for having urine infections that eventually one of the doctors had said "You know, I know you're saying that you've had the two biopsies and it's come back inconclusive, but I think we're gonna take bloods just to be sure, to rule it out. We're gonna, we're gonna do this." And I was like "Yeah." And he says "Good chance it's gonna come back and say no anyway, you've been tested." And then opening this letter, and it's saying that your son has Alports, was my whole world had crumbled. I was like 'I can't believe this'. And I don't know if I'd have been able to deal with it better if I knew I had it first. I don't know. I probably wouldn't have. I probably would have dealt with it in the same situation - it was my baby. And your, yourself you can deal with things - 'right, I've got this, I just need to deal with it and move on'. It's heartbreaking as well for yourself, but you move on. But because it was my child, and I thought 'I, I just can't take this in'. Obviously phoning family. And because my uncle, he's got CF, and because of all the things that he's been through, he was saying to me "You know, medicine nowadays - look at me." He was trying to keep me positive. You know what I mean, "Look at me, and look how I've done, and - you know - don't get downhearted about this, and things." And you, you try your hardest not to, but it's not, it's not easy when it is your child.
People spoke about learning more about their family history and finding out where the Alport gene came from. Richard X said that Alport Syndrome was traced back to his mum who was probably the first one in the family to have a spontaneous mutation. Dee went to her genetic appointment with her whole family. Michelle and several family members gave samples including her grandmother. People recalled distant family members and how they might have had Alport Syndrome but perhaps there wasn’t the medical knowledge at the time (see Getting a diagnosis of Alport Syndrome). Steve said that his grandfather died age 27 of “renal failure” and had a diagnosis of “Bright’s disease” which he says would have been Alport Syndrome. Similarly, Alan said that his grandmother caught scarlet fever and he wondered if this was where his Alport Syndrome stemmed from. Dee, who found out in her late 40s that she had autosomal dominant Alport Syndrome, said her dad had gone deaf and passed away in his early 60s and she wondered if he had had an underlying kidney issue. 

After having genetic testing, people talked about how they dealt with the results. Michael Y said his surprise was short-lived and there was a “levelling out”. Many people talked about resuming as normal a life as possible. Amanda says that she tries to take one day at a time (see People’s attitude to Alport Syndrome and their outlook for the future). Richard X said that he felt there were worse conditions than Alport Syndrome to live with. Michael Y says that in his family Alport Syndrome is a “family legacy”. For Angela, who has autosomal recessive Alport Syndrome, going back to get more genetic tests now for her children is a consideration. Debra also thought about getting her son (who doesn’t have Alport Syndrome) re-tested.
 

Jayne says that after the genetic test results for her family, they try to live in the here and now.

Jayne says that after the genetic test results for her family, they try to live in the here and now.

Age at interview: 40
Sex: Female
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Well I tended to wrap my little boy up in cotton wool, and [laughing]. And like think 'oh, I'm never gonna shout at him ever again, and he's gonna get away with whatever'. And you did, you were a bit like that, and. And like he'd knock something over, and you'd say "Oh, never mind, it's fine, it's fine" [laughing]. That does wear off eventually, and you start treating him normally. But yeah, for the weeks after - and then we tended to spoil him as well, like . We came home and booked a holiday to Haven, and like "Oh, we don't care, we're going to do this, that and other, and ." You know, you sort of got a bit silly really. But [laughing], like spoiling him. But I think it were just the shock of it all.

But as time went on, you sort of do realise that there is life after the diagnosis, and everything carries on as normal. Yeah. Yeah.

So did it put a different perspective on things?

Oh, definitely. Yeah. Definitely. You know, you sort of talk to people, and they're all about - like if they're talking about their children, they'll talk about oh, "If they go to university." Or, "When I become a Grandma." Or things like that. And you sort of think 'well I'd like that for mine, but you just don't know what the future's gonna hold'. So you do sort of tend to live more here and now, and sort of appreciate things that are happening now more, rather than look too far in the future. Like, you know, I don't even think about him going to university, because you just don't know what's gonna happen. And you think 'if they get there, that's fabulous', but you know, you don't know what hurdles you've got to face getting up to that point. So it definitely does change the way that you think about things. And also we've got friends that have got children that are ill with other things. And you think 'well I'm lucky, because he's not as bad as that', sort of thing. So it definitely has changed the way that you look at life as a whole, really. You know, you do appreciate things more now. And you don't tend to look too far in front, because you just don't know what's gonna happen in the future.
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