As Alport Syndrome is usually inherited; many people talked about children, their reproductive choices and thoughts about inheriting or passing on the Alport gene. Talking about whether a child may inherit Alport Syndrome often raised a number of emotions. People spoke about the real (and often painful) difficulty in making reproductive choices and the impact of their personal decisions. Genetic testing and counselling were taken up by some people before having children. Some younger people we spoke to had been for genetic counselling. Sarah had genetic counselling when she was 14 but felt “it was quite a lot to think about” back then. Katie similarly isn’t thinking about having a family now. Emma went for genetic counselling in her teens but now, age 22, has decided to go back to look at her options. Some people decided not to have children, sometimes this was because of Alport Syndrome but sometimes for other reasons.
Michael Y says having children is far down on the list of things after travelling and living abroad.
Michael Y says having children is far down on the list of things after travelling and living abroad.
Age at interview: 25
Sex: Male
Age at diagnosis: 24
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Yeah. It's made me think about the future a bit, in terms of having children. It's not putting me off having children, if I want to have children in the future. Anything like that. I went to Copenhagen at Christmas time, and as soon as I typed in Alport syndrome on like the travel insurance, I just noticed the price of insurance go up, like quadruple what it was, or something like that. And I kind of want to live abroad for a decent amount of time, so. That's probably the most annoying thing about it, that health insurance if I go live in America or something is gonna just cost me more than it probably - I'm used to the NHS. So I'm used to being provided with great free healthcare [laugh].
Well I don't know if I want children yet, or plan to have children, I guess. Neither does my partner, so. Because we're kind of - we're both at uni and we're both, well 25. And there's stuff we want to do, like travel, and things like that. And so it's far down on the list of things to sort of do, or anything like that. But I don't think Alports would prevent me from wanting to have children or anything like that.
Kevin says that Alport Syndrome didn’t affect his decision not to have children.
Kevin says that Alport Syndrome didn’t affect his decision not to have children.
Age at interview: 42
Sex: Male
Age at diagnosis: 6
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It didn't affect my decision to have children or not. I, in the end I decided not to have children. I've got a stepson, which is more than enough. But no, I don't think it had any impact on my decision either way. I think - I might be wrong about this, but I think because it's X-linked, it would be very unlikely that if I had a child that the child would have Alports anyway*. But yeah, it wasn't really a concern, there were bigger factors. I think possibly the fact that I was on dialysis for most of the early part of my marriage might have had some impact. When I think about it actually, it wasn't the fact that it was dialysis, it was the fact that knackered [laugh] with the idea of introducing another child into that would be just too much. But it's not something I feel that I've missed out on. And it wasn't something where I thought 'I want to do it, but I can't'. Just wasn't something that came up really, so. No, it wasn't - wasn't an issue.
*A father with X-linked Alport Syndrome can pass AS to any daughters.
When Donna was 30 she was told she would need dialysis in the next 10 years which affected her decision to have children.
When Donna was 30 she was told she would need dialysis in the next 10 years which affected her decision to have children.
Age at interview: 47
Sex: Female
Age at diagnosis: 3
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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.
Patrick says that if he had children with Alport Syndrome he would give them support and normalise the condition.
Patrick says that if he had children with Alport Syndrome he would give them support and normalise the condition.
Age at interview: 17
Sex: Male
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Yes, I'm very, very conscious though that the way you essentially eliminate, you ensure that your kids don’t have it is likely I think and that’s not, I don’t think, my decision. If, if theoretically speaking if my kids had Alports I don’t think I would feel a sense of guilt. What I would try to do is give them all the support. What I would try to do is give them all the support and all of the help and understanding and normalisation that I have had because what I've ended up as is a guy that is completely happy with what I have, with my condition.
People spoke about the ‘elimination’ of the Alport gene and their feelings about this. Michael X said that the choice of genetic selection was a very “complicated and difficult area”. He felt it was ultimately a personal choice made by the people involved. Lucy said there were two sides to the debate; “not creating a child who's going to become ill; but then there's the, the opposing view which would be the sort of playing God”.
Lucy describes how difficult it is to make a decision about having children naturally or not.
Lucy describes how difficult it is to make a decision about having children naturally or not.
Age at interview: 38
Sex: Female
Age at diagnosis: 8
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Yeah, yeah and just kind of that recognition that, again you know with this difficult kind of moral decision that we had to make which just has to take so many different factors into account because we're not just talking about what we want; we're talking about what is better for, you know somebody else, you know this very important person that we've produced and is it right to just say, "We will just take our chances here and create the person, or is that the wrong thing to do and should we not take our chances; should we, should we take control or let science take control and make sure that we don’t produce this person," and that’s a very difficult decision for anybody to make and I would never judge anybody in that position because, you know you're just not in their shoes, it's just, it's impossible to make that judgement really.
Richard X discusses his feelings about not passing on the Alport gene.
Richard X discusses his feelings about not passing on the Alport gene.
Age at interview: 39
Sex: Male
Age at diagnosis: 9
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It as quite a while ago and actually I think my daughters due to have some blood tests again I think every now and then just blood tests just to see, see if she’s still, because what can happen is she can develop some really minor symptoms like passing a bit of blood in her urine but hopefully never develop, you know, the major things in Alports. But I don’t know how far moved on since I last spoke to [geneticist] about selection of sex of children I don’t know how far its moved on actually I’m quite, quite interested to find out because there’s a big argument that you’re-creating designer babies and things like that but having, you know, there’s worst things to go through than, than Alports definitely than having Alports and been through what I’ve been through, if I had the choice between giving someone else Alports or not giving them Alports I’d much rather be able to choose not to. I don’t think there’s any, you know, there’s no choice at all and I can’t understand people arguing that, you know, it should be a natural thing and it’s you know, you’re-creating designer baby, I feel quite strongly about, you know, it’s not creating a blue eyed blonde haired baby it’s creating some, a baby without that defect.
Which has a serious impact on people’s lives.
Many people considered prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD) through IVF. If the mutation causing Alport Syndrome is known in a family then prenatal diagnosis can be offered by Genetic services at 11-12 weeks of pregnancy, or couples may elect to have pre-implantation genetic diagnosis (PGD) which involves biopsying and testing embryos that have been obtained by IVF (in vitro fertilisation). The people we interviewed often mentioned sex selection. However, Professor Frances Flinter says that sex selection is often not needed, because genetic services can offer more targeted testing during PGD which looks for the precise mutation involved. Male embryos are only excluded if the familial X-linked mutation has been inherited.
Professor Frances Flinter explains prenatal diagnosis and pre-implantation genetic diagnosis (PGD) for people with Alport Syndrome.
Professor Frances Flinter explains prenatal diagnosis and pre-implantation genetic diagnosis (PGD) for people with Alport Syndrome.
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I think it's very important to emphasise that genetics departments will never be directive in terms of the counselling they offer. So they will never tell a couple what they should do, because we don't know - each couple must make their own individual choice. But some couples may prefer to choose one of the options that's available to them that mean that they can avoid passing Alports on to a child of theirs.
And I suppose the most common thing that couples would consider is prenatal diagnosis. That means having a test done once they're already pregnant, at about eleven or twelve weeks of pregnancy, to see whether or not the baby has inherited the mutation. And some people might do that because they would consider terminating a pregnancy that is known to be affected. That's obviously a very difficult decision for any couple to make, these are couples who want to be pregnant, who want to have children. And it's very hard deciding whether or not to have prenatal diagnosis with a view to terminating an affected pregnancy. But if the mutation is known in the family, then that is something that's available to them. Of course, for some couples there's a very strong desire to avoid having affected children. But prenatal diagnosis and termination of pregnancy are not something that they could consider. And it's for those couples that pre-implantation genetic diagnosis may be an acceptable alternative. So pre-implantation genetic diagnosis - or PGD for short - uses fertility treatment to obtain eggs and sperm from the couple that are fertilised in the laboratory. So that the embryos created as a result can be tested for Alports before an unaffected one is selected to be put into the womb in the hope that it will implant and lead to a pregnancy. And there are a small number of couples every year who choose to have pre-implantation genetic diagnosis in order to try and maximise the chance of having a baby that is not affected with Alport syndrome.
Professor Frances Flinter talks about the process and timescale involved with PGD.
Professor Frances Flinter talks about the process and timescale involved with PGD.
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There are many couples now who've had healthy babies following PGD. But it's a complicated process to go through. And I think of course couples find it quite stressful, because at any stage they may come to a halt. They may not - the eggs may not fertilise, the fertilised eggs may not grow to the stage at which they can be biopsied, the biopsied embryos may not survive the process of being biopsied, or we may have one or two and then we test them they're all affected. So there can be huge disappointment at any stage.
So PGD has quite a protracted timescale. When patients get pregnant naturally and have prenatal diagnosis, as long as we already know the mutation to look for, we can actually test for it as soon as they get to twelve weeks of pregnancy. With PGD we only have a really tiny amount of DNA taken from the biopsied embryo to test, and so for technical reasons what the laboratory does has to be very different. And because we want to be absolutely sure that we have a robust and reliable test that will work on the tiniest amount of DNA, the laboratory has to do a lot of preparatory work beforehand, before we're ready to start putting a couple through IVF. And we need DNA from both members, both members of the couple who are considering PGD, and usually also a DNA sample from at least one other relative who carries the mutation, in order to be able to develop a tailor-made test for that couple that we are confident will work with a tiny amount of DNA. And that laboratory work-up, as we call it, takes about three months once we have DNA samples from all the relevant people. Only then can we refer them to the assisted conception unit where there's all sorts of screening tests that need to be done, and consent forms to be signed, before they are then scheduled to start the ovarian stimulation that is required for IVF. So there's usually at least six months run-in before they get ready to start their treatment. And so for couples who are in a great hurry to get pregnant, it's unlikely that PGD is going to be the best option for them.
And so then from six months onwards, what sort of timescale? What would that potentially-
It's very difficult to generalise. After one cycle of ovarian stimulation, there may be no embryos, and therefore they need to go through the whole ovarian stimulation process all over again. And of course that will take several more weeks. On the other hand, they may go through one cycle of ovarian stimulation and have two embryos that are predicted to be unaffected. We will put one back a month after biopsying and testing it. If the woman doesn't become pregnant she can come back a few weeks later, and have her next frozen embryo put back, to see if that will implant. So people may be able to have two or three goes at becoming pregnant after just one cycle of ovarian stimulation, particularly if they're younger and they've produced plenty of eggs, and those eggs have fertilised successfully and survived the process of being biopsied and tested.
Debra had a CVS test during pregnancy and says they would have terminated the pregnancy if their baby had Alport Syndrome.
Debra had a CVS test during pregnancy and says they would have terminated the pregnancy if their baby had Alport Syndrome.
Age at interview: 33
Sex: Female
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So, we looked into obviously the, the sort of genetics of having a baby. And, you know, doing the -
Yeah. Selection.
- the selection, PGD at [name of hospital] hospital. They said to us "You know, your chances - you've got a seventy five percent chance basically of having a healthy child. We can't give you anything close to that, you know, so you should probably give it a go yourself" [laughs]. So we were like, "Okay." So we did. And, so again, as soon as I found out I was pregnant, I had to know exactly - I had to go for a dating scan, because I had to know exactly how many days, weeks and days I was. So I then started being under the care of the early pregnancy unit at [hospital]. And they did all the prenatal testing. So they did the blood test at nine and a half weeks, which determines the sex of the baby.
And once we discovered it was a boy, they then did a CVS. I don't know if you know what CVS is?
Ah. Could you just explain it?
It's a needle, like the size of a knitting needle basically, but super thin. And you get a [local] anaesthetic in your stomach. And then they insert the needle into the placenta. They take a sample of the placenta, which then gets tested. And they test the genes basically, to find out - because it was a boy, if he was carrying, you know, Alport’s. Obviously if it had been a female they wouldn't have done that. Because the test itself carries a risk of miscarriage, and.
They can only - there's only a certain window they can do it. You know, it's twelve weeks, and then if it doesn't work, that's it. So it was a massively, massively stressful time.
Because we found out I was pregnant at six weeks. This, we obviously went through all this. This test happened at twelve weeks. And then we had to wait for the results. It was only two days we had to wait, but we thought it was gonna be longer. So obviously they phoned us up, and they said "You know, the test predicts that your son does not have Alports." And we've got a letter that says that as well. So it was, it was all good from a genetic point of view, from twelve weeks.
So you could have four different types of children. So you could have a boy with Alports syndrome, a boy with nothing. A girl a carrier like me, and a girl with nothing.
So really, you've actually only got a one in four chance of an ill child.
But, you know. And this is what all the doctors were trying to say to me. But then my argument back to them was, "Well that didn't really work out for my grandparents, because they had two boys and they were both ill, and one is now dead."
So, that doesn't really fill me with comfort. I could see where they were coming from. So, I mean, and [sigh]. If the baby had been carrying Alport syndrome, we wouldn't have continued with the pregnancy.
Really?
Yeah. And we made that decision. Because I have seen the condition, I know the reality of it, I know what you'd be signing someone up for. And I couldn't do that. I couldn't do that.
It stops with me. It doesn't go any further. So my Dad's brother has no children. I'm an only child. It stops with me. So if I can stop it, it doesn't go any further. If I have another child with it just goes on and on and on.
Many people opted to have children naturally without any intervention. The sex of a child, was often discussed as people said they believed girls would have less severe symptoms and be a ‘carrier’. Karen said she thought PGD was going to be a long process for her as the hospital required a blood sample from a male relative. Jayne was unaware she had Alport Syndrome and gave “no second thought” to having children. Michelle said that at the time of having children she didn’t know she had Alport Syndrome and feels it wouldn’t have stopped her. Lucy and her husband decided to leave it to fate whilst Neil and Diane “went in knowing that there was a fifty-fifty chance”. Richard Y, Paul and Christine and Robin all had genetic counselling before having children naturally.
Lucy describes the dilemma she faced around naturally conceiving.
Lucy describes the dilemma she faced around naturally conceiving.
Age at interview: 38
Sex: Female
Age at diagnosis: 8
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Well the obvious thinking is to avoid having a boy because again at that time there was, my understanding of a girl with Alports was that it was still effectively a carrier type situation, that girls who had Alports are very, are not ill with it, so we just thought of, 'Well that’s the obvious solution then is to avoid having a boy; avoid that fifty/fifty chance of having a child who will become sick.'
And go for the safe option. And, you know it's -, I suppose at that stage I felt a little disappointed that I couldn’t just be free to just, you know do what everybody else does; of course everybody else doesn’t do that because everybody's got their own issues and their own battles that they don’t talk about either. But at that stage, you know I was, I was just disappointed that you know that I might never have a son and that we couldn’t just relax. And we sort of talked around it and there are two sides to the debate aren't there? You know there's the sort of responsibility side and not creating a child who's going to become ill; but then there's the opposing view which would be the sort of playing God view and choosing -, and I don’t particularly have a strong view either way. Just felt that, I don’t know I sort of felt that maybe, maybe we'd get lucky which just sounds really irresponsible but it's –.
Yeah it sounds like you weighed up all the options.
Well we did, we did. We did but I don’t feel that -. I mean you just, you cannot make a logical choice really in this situation and I think that’s what it comes down to, there just isn't a sort of, a right answer is there?
No
So, you know we are usually quite rational about decisions but this isn't a rational decision to make, it's an emotional decision to make and you know there, I wasn’t, we were aware that going through the sex selection would involve IVF and that IVF hasn’t got a brilliant success rate and that it's not a particularly pleasant experience for people to go through, but that wasn’t really the consideration. You know we weren't, we weren't too worried about that because we, again we sort of thought, 'Well, you know we could do that and take our chances and it might help them for us or it might not.' But we just didn’t really get that far and I think I suppose that with hindsight I was never that committed to that because I know I was going onto forums I found; I don’t even know what website it was at the time cos it would have been before the Alport UK charity started I guess. But I found a forum which had some, it may even have been an Alport forum and it had some, some threads on there written by, you know people in exactly our situation or who'd been through our situation and had children. And one that really, really, what really stuck in my mind, really resonated with me, was written by a lad with Alports whose mum had said to him, "I feel dreadful; I feel so guilty; I feel so irresponsible," and he just said, "I would rather be here than not be here," and I just thought, 'Well you know.'
Diane and Richard Y had transplants before deciding to have children. Angela said her sister was told to have children at a young age while her kidney function was still good although Angela had a kidney transplant before having children and waited three years before having her second child so that her kidneys could recover. Deborah says that in the future when she wants to get pregnant, she will have to change her
blood pressure medication. Diane and Frances similarly said they had to change their medication before trying to conceive.
Richard Y describes how he and his partner came to the decision to conceive naturally.
Richard Y describes how he and his partner came to the decision to conceive naturally.
Age at interview: 37
Sex: Male
Age at diagnosis: 23
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So, when I'd been transplanted, we - what year was that? '12? '13. It was around summer twenty - yeah. It was only a few months after I'd been transplanted. We took a holiday in the UK, with my donor and his family, and spent some time at the coast. And my partner and I had a walk round the beach one day, and we were sort of discussing how things have - how weird it's been in the last few months. And she's always wanted a family. So I asked her, "Would you prefer to get married, or have a family? It's a choice. We can afford one and not the other." And so she obviously jumped at the chance of a family, because then she's trapped me [laughing]. And so, with it being genetic, I said "Look, I'd need to look into it as well." So, thankfully, there's a genetic team at my transplant centre who look into polycystic kidney disease. They were happy to look into how my Alports was linked. X or Y linked, X-linked for me. And. Just, and to make sure it was as well, they do the genetic testing, get some information. But also then obviously if we had a daughter, she'd be a, a carrier. And potentially have issues in future. Had a son, that'd be the end of it. So, we sat there and made the decision that we were gonna go for it either way. And, yeah. We, we have a little daughter now, 18 months old. [whispers] Oh god, it's a nightmare [laughing]. She's not, she's fantastic. It's the best thing we ever did. And, thankfully, because of my knowledge and experience - knowledge and experience of, of what happened, when she was born, the doctors were aware that she could have Alports. The did some tests on her, they found a little bit of blood in her urine when she was born, but apparently that's quite common in little girls. But they were really on that, just to make sure there was no kidney issues. Or scans, was - twelve weeks, and - I should really know. Twenty four weeks, everything was good and healthy. She had little, you could see her little kidneys and stuff, and everything's sufficiently formed. So that was okay. I think my partner thought I was hoping for a boy, when we had the - we could find out at twelve weeks. She said, "Oh, you were crying, you were so upset." And I was like, "No, I was just - just so happy." I'd gone from somebody in October 2011, going on dialysis, not knowing what was gonna happen. And then, yeah. Christmas - well, yeah, just early January 2014, you know, I'm gonna be a Dad, but [whispering] we don't tell nobody.
Paul, Christine and Emma discuss Emma being able to have IVF in the future.
Paul, Christine and Emma discuss Emma being able to have IVF in the future.
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Christine: Emma's been, we took Emma when she got into her teens, to get the latest information from them about it, so that she was well informed and well equipped as she was going into her adult sort of life. And now Emma's thinking of getting the latest information again, from the same lady up at genetics, now that she's got a partner. So - but obviously Emma's - Emma's got her head in gear about what the situation is. And she knows that there are certain things that she can do, to try and make the next stage as best as it can be. So, you know –
Paul: Or eradicate Alports from our family.
Christine: - it could be, you know, that –
Paul: And die out with me.
Christine: As, well we spoke about this last time we, we took Emma up there. And hopefully there'll be some more information when she goes soon. But hopefully Emma will get the opportunity to have a type of IVF treatment that will actually be able to pinpoint whether that –
Emma: Egg.
Christine: - embryo, whatever, is carrying the gene. So ideally, will give her the choice to, you know, eradicate Alports down her line. Which is marvellous, because if you –
Emma:- come back.
Christine: - if you take it back to when Paul and I were thinking about having our family, that was the one thing we hoped for, in us deciding we wanted a family, because Paul based it on the fact that he would not - he would have lived his life again, if he had chance, you know? It's had its bad things, but it had good. So we decided to have a family. So but that - we're at the stage now where we're hoping our hopes are gonna be realised. That, you know, Emma will decide to have a family, have some good choices, and be able to go down the positive route. That's really it, isn't it.
Paul: Summed it up perfectly.
Christine: Did I? Good. Because that's the most we really want, you know?
Paul: [laughing]
Christine: Because when you've got something like a genetic illness disease, that's the biggest guilt trip, isn't it, to - you know. I know probably Paul's mum had, has had that guilt trip and had to live with it, because she's seen one of her sons die, and she's had all the things that Paul's had to endure. So hopefully, you know.
Paul: Well - her sister and her nephew all died from it.
Christine: Yeah. Yeah. But that - it's amazing how in that fairly short amount of time really, how things have moved on.
Debra said she felt very lucky as her son did not have Alport Syndrome. She says that if her and her husband decide to have another child they will not do it naturally again as she worries that their “luck will run out”. Despite this, she feels that PGD through IVF will be an invasive process with no guarantees. Robin who has X-linked Alport Syndrome had two sons naturally and as there can be no male to male transmission, described this as a “good feeling” because “the issue ends with me”. Amanda felt that she wouldn’t want to risk having another child with Alport Syndrome. Deborah, who has autosomal recessive Alport Syndrome, believed that any children she has in the future would not likely be seriously affected.
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