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