Alport syndrome and pregnancy

Pregnancy was discussed by people we interviewed particularly in relation to their choices about having children and the genetics of passing on Alport syndrome.

Dee described her pregnancies as “perfectly normal” but for others there were particular complications and problems. The main problems experienced during pregnancy were raised protein levels and blood in a woman’s urine and difficulties with high blood pressure and the potential for pre-eclampsia.

Many women talked about having a lot of appointments and regular check-ups during pregnancy, and most women were advised to change their blood pressure medication should they become pregnant.

The GP told Frances that her creatinine levels would need to be checked every week during the pregnancy.

Age at interview 35

Gender Female

Age at diagnosis 16

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I just went to my own GP. And basically said that, you know, we was gonna have a kid, but – and he said “Oh well, the medication you’re on is not suitable, need to change that before you actually want to start thinking about having a family.” And then – that – they’re both fine. Obviously the medication, whatever it was, was well out of my system before I had them, so they were alright.

Can you tell me what happened during the pregnancy? Because you said that’s when things sort of changed a little bit?

Just really kind of like – obviously general pregnancy things. But not being, not having kids before, you think that that’s perfectly normal. You think that you put on lots of weight, you think that your hands swell up really bad, your ankles swell up really bad, that you’ve got lots of – you know – blood and protein in your urine, and that’s quite normal. Because I always have that, so that’s alright. And then it wasn’t until you start going, and they’re going “No, but there’s like too much protein and too much blood. You normally only have like a trace of blood, or two of protein.” And I was having like five of this, and six of that, and I was like “Oh, right.” I didn’t, you don’t understand. I’m just like “Oh right, okay, what does that mean?” And they’re like “Well something’s not right then, if that’s happening. It’s obviously putting more pressure on your kidney.” And then they checked the creatine levels and were saying obviously that the – not sure if it’s decreased, if they go down isn’t it – up? Can’t remember. Is it up? I can’t, I honestly can’t remember. I just know that they said that obviously the creatine levels had changed, and that’s high, so they were having me in every single week to monitor me. So I was in constantly, to get monitored. Really quite sick, and just kind of feeling rubbish. And why, why’s this rubbish? You know? Pregnancy’s not supposed to be like this, it’s supposed to be great and easy and wonderful, and – you know. But my first wasn’t, wasn’t that bad. [My daughter] was fine. She was – hers was alright, but the second just seemed to be worse.

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A few women did not have a diagnosis of Alport syndrome before they got pregnant and were unaware of their condition. Jayne had been given a diagnosis of nephritis (inflamed kidneys) and towards the end of her pregnancy had to be induced because there were high levels of blood and protein in her urine. It was only later on when her son was 2 years old and had hearing loss that a diagnosis of Alport syndrome was made.

Michelle didn’t know she had Alport syndrome when she was pregnant with her daughter and had to tell doctors that it was common in her family to have blood in their urine because this was all she was aware of at the time.

Jayne was unaware she had Alport Syndrome throughout her pregnancy.

Age at interview 40

Gender Female

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But with it only, with it being every twelve months that I go for my, you know, to see the consultant, I was quite far into the pregnancy when I saw him. And he was just, I think he was a bit shocked because they , they weigh you before you see him, and obviously he got my results and think, he must have thought that I’d [laughing] gone and put loads of weight on. So when I walked through the door, he says, “Oh, that explains it, then.” But he never mentioned it being Alports, and he did say, “Oh, well done for getting this far into your pregnancy.” Because I was like right at the very, very end. But I didn’t really go into it, why – I didn’t think to ask him, because it’s, it’s like never been an issue, and I’ve always thought ‘oh, I’m perfectly okay. Because it just never affected me. I didn’t sort of think to think ‘why, why have I done summat so good carrying my baby so long?’ sort of thing. But perhaps if I’d have known about the Alports, I might, I might have been a bit more cautious, you know, thinking it was a bit of a bigger deal than it actually was. You know? But no, I didn’t. Never thought about it really.

Because they had to induce me because, I’d forgotten about this bit. They did induce me because the blood and protein went really bad. And they say it’s very similar symptoms to, what’s it called?

Hypertension, or?

No. I were gonna say it then. What’s it called, when you’re pregnant and you have to –

Oh, pre-eclampsia?

Pre-eclampsia, yeah. So they didn’t know if it was my kidneys or pre-eclampsia. So I was induced when I had my eldest child. And so the consultant never mentioned Alports or anything, and I just, you took it as normal. Now when he – So I didn’t have him tested, didn’t think anything of it. But then when he got to year 2, I started to notice that his hearing was failing.

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Amanda had protein in her urine and high blood pressure during her pregnancy but didn’t know she had Alport Syndrome.

Age at interview 39

Gender Female

Age at diagnosis 33

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And just going back to when you first had – because you said it was in your urine, was it, that you –

When I was pregnant, yeah.

Can you tell me what happened then? Because that was really the first indication for yourself that something wasn’t quite right.

Yeah. Wasn’t quite right, no. It was just – obviously when you’re pregnant you need to get your urine tested, and they had said that “Your protein’s very high in your urine.” And I was like “Oh right, okay.” And they were like “So we’re just gonna keep an eye on your blood pressure and things, and just keep testing your urine. I said “Right okay, that’s fine.” I think they were concerned it was pre-eclampsia. And I was like – never even clicked, obviously, that there was anything else that was going behind it. Just thought that it was my body dealing with pregnancy. And then obviously used to get me to do a 24 hour containers, to obviously collect my urine in, and things like that. And then they took me in when I was about 31, 32 weeks pregnant. And said to me “No, we’re gonna give you a steroid injection to bring on the child’s lungs, because we’re just not happy about how things are going.” And I wasn’t too sure if they thought – I wasn’t too sure at that point if they were thinking pre-eclampsia is definitely on its way, because of the protein in my urine. And they were just waiting on, you know, the blood pressure, the swelling, the other symptoms that comes along with it. Or if they were thinking something’s going on with her kidneys that we just – they basically said “We don’t know what’s going on. We’re not sure here, what’s – and we need to wait until after you’ve had the child, to test you. And then try and work out what exactly – maybe your body doesn’t work well with pregnancy and it’s affecting your kidneys.” And I’m like “Oh right, okay. That’s fine.” So I just was going along with things, as you normally do. And then obviously they started me at 31, 37 weeks. They induced me. Because they still weren’t too happy about how things were going with the urine and things, and they were like – they just says it’s “You’re very peculiar, don’t understand what’s going on” [laugh]. And I was like “Right, okay.” So yeah, he came into the world. He did have some difficulties coming in, anyway. Which is other medical things, nothing to do with the kidney side. And so that was a worrying and stressful time. He had, I had strep B, and he had ended up with meningitis, and then they had found out that he was taking seizures, and he had bleeding in the brain. So they told us some horrendous things, that you know, he could obviously have – you know – he could have learning difficulties, he could be blind, could be deaf. You know, got to warn you basically everything. So it was a really, really stressful time. And he didn’t get out until he was five weeks. But nothing, not any of this involved the kidneys. None of this at all. It was just obviously these other situations that had come in.

And how old were you at this time?

I was 29. At that point. I was just coming up for – he was born in the March, and I was 30 in the October. So, yeah. That’s what they just brought me. And then they said “Obviously once you, you have him, then we’ll look into obviously investigating yourself and seeing what’s going on with the kidneys.” And that’s what prompted the two kidney biopsies to be done, to obviously have a look, to find out what was going on.

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For those women who had a diagnosis of Alport syndrome, some were told that their pregnancy was high risk and they had a risk of pre-eclampsia. Several women said that changes in their blood pressure and protein or blood in their urine were picked up at antenatal appointments and this sometimes worried health professionals.

Specialists at the renal clinic explained that Debra would need to change her medication and that pregnancy might affect her long-term kidney function.

Age at interview 33

Gender Female

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So obviously when I was attending the renal clinic at [hospital], I – you know – spoke to them about potential pregnancies. And obviously, you know, because – there’s two things to consider with pregnancy. There’s my own health, but there’s also the genetics of passing it on. So there’s two problems really. Which I dealt with two separate people as well, there’s not one person to manage both of that. So I spoke to them, and they said to me “Look, you know, anyone as they get older – a healthy normal person, you know, the older you get, the more problems you get in pregnancy. That’s just simple. You will get slightly more. So you have to take that into consideration if you do want to have a baby, you really kind of need to get on and do it.” And I was like “Oh right, okay.” And I said, so – talked about obviously kidney function.

And he says “Well, as soon as you find out you’re pregnant, you have to stop taking ramipril. You can’t take that ramipril in pregnancy. You also can’t take it when you’re breastfeeding.” He said, “You probably could take it when you’re breastfeeding, but there’s not enough research to make, give them the comfort that it’s okay.” He said “Probably it would be okay, but we don’t want you to take it. But you absolutely can’t take it in your pregnancy.” I says “Yeah, okay.” He said, “Obviously if you find out you’re pregnant, you get in touch with us, because obviously we want to monitor you through that. So obviously not taking the ramipril, that has an impact on kidney readings.

“But also pregnancy itself,” he said. “So, you know, to be aware of risks. You could sail through your pregnancy, your kidney function remains unchanged and life goes on as normal.” He says “You could lose a bit of kidney function during your pregnancy, which could then come back after. You could lose kidney function during your pregnancy, which never returns. And there’s no way of predicting. Everyone’s different, and there’s no – there’s no way of knowing what’s gonna happen.”

But what he said was, “Worst case scenario. If you did lose some kidney function that never returned, then you’re in a good position, because you’ve got good kidney function to start with anyway. You’re in a good starting position. So you have to think about that as a positive.” And I was like, “Okay.” Other thing to consider is, I’m at a higher risk for pre-eclampsia. “Only slightly,” he said. “I mean, it’s like if a normal person’s at a fifteen percent risk, you’re at a twenty percent risk. You know, it’s not massive, but there is an increased risk, so.”

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After Diane’s transplant, she and her partner waited for 6 months to make sure her health was stable and her new kidney working before they tried to conceive.

Age at diagnosis 35

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Neil: And then also we, we found out that, you know, tested for Alports. And then we started talking about having, said we wanted children, they sent us to a geneticist to talk about how, you know, the different possibilities for having children with Alports and kidney failure. So it all happened around the same time really.

So it all happened quite fast then, that?

Neil: Yeah, within a year or so, I suppose. And then, you know, but then her kidneys had deteriorated so much they were like “You’ve got to get that sorted first.” And they gave us quite a nice – they basically said, you know, there’s no problem once you’ve had the kidney, you can have children after that, that’s not a problem. You know, you’d have to – we have to put you – you have to tell us when you want to try and get pregnant. Because they need to switch the drugs, and make them more suitable for trying for children.

Diane: Yeah, we had to wait a year before you could switch over.

Neil: Yeah. Yeah.

Ah, okay.

Neil: Yeah.

Diane: And then we switched over, and then we had to wait six months, to make sure the switch onto – you’re stable on your medicine. And then you can try and have children.

Neil: And there’s a kidney unit in [place], so she generally goes there.

Diane: Obviously when I was pregnant both times, I was in there all the time [laugh]. So many pregnancy checks, it was – just to make sure.

Neil: Yeah. So once a month she’s having checks. And once a months scans as well. So normally with a baby you have two scans, but with both the kids she had a scan every month, to make sure everything was going alright.

Diane: Which was quite nice.

Neil: Yeah.

Diane: [Laughing]

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Women with Alport syndrome went through standard pregnancy tests from blood tests to anomaly scans. Most of the women we met had also been offered follow-up tests such as chorionic villus sampling (CVS ) and amniocentesis to find out if the baby had genetic abnormalities. Debra, for example, said that if her unborn baby boy had had Alport syndrome she would have considered a termination.

Some women explained the significance of finding out the sex of the baby. Diane and Neil were shocked when they found out their baby was a boy as they were convinced they were having a girl. Sammy spoke about having scans but unfortunately miscarrying several times, one time at 20 weeks. She was told this was probably due to her “weak kidneys”.

Debra had a CVS test at 12 weeks once she found out she was carrying a boy and says she wouldn’t have continued the pregnancy if her baby had Alport Syndrome.

Age at interview 33

Gender Female

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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 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, Alports. Obviously if it had been a female they wouldn’t have done that. Because the test itself carries a risk of miscarriage, and.

Yes. Yeah.

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.

Yes, yeah.

So I wouldn’t have continued with it. And I, and I – I’m the only person now who has it. As in

It stops with you.

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, it just goes on and on and on.

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Lucy had a triple test (combined test) during her second pregnancy but rejected an amniocentesis because of the risk of miscarriage.

Age at interview 38

Gender Female

Age at diagnosis 8

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We had another baby just under two years later another girl and yes I was there that time, I was awake.

OK

With that baby, just, I don’t know if this is useful or relevant but at the fourteen week they do the, I’m not sure they do now, they did a triple test then; I think they do it slightly differently now but at about fourteen weeks they did the blood test for risk of Down’s Syndrome and then they plug it into their computer and it comes up with all the sort of lifestyle and age of the mother and everything else and comes back with a chance of Down’s Syndrome, and I had a phone-call with that pregnancy to say that, you know there was a greater than one in, it’s ridiculous, it’s something like one in two hundred or something, you know it’s really, a really low chance but you get the phone-call, and I was absolutely devastated initially. Had the phone-call from the hospital, they said, and they said, “Come in anyway to talk to us about it, you know, not to make a decision in way, shape or form, just come in to see us, come in and talk about it.” I phoned my midwife and she said, “Stop panicking; everything’s fine,” and I phoned my husband and he said, “OK, don’t panic, everything’s fine you know.” And so we knew that there was nothing we would do about that and , I forget what else they can do about that. I don’t think there was anything else they could do about diagnosing it in pregnancy. Oh, I think you can have, again you can have the amniocentesis can’t you, and again it carries the risk of miscarriage. And so they offered me that when I went in and I said, “Well I don’t want to take the risk and I’m carrying a baby that has a fifty/fifty chance of having a relatively serious genetic condition, and we’re not making a decision on that basis, so I’m not going to make a decision to have a risky process procedure on the basis of this one in two hundred chance, or whatever it is.”

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Others, like Lucy, didn’t want to have more intrusive tests such as the CVS or amnio because of the risk of miscarriage.

Lucy and her husband decided not to have a CVS test to find out if their baby had Alport Syndrome.

Age at interview 38

Gender Female

Age at diagnosis 8

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And can you talk me through then what happened then?

So, I think there was some, there were the options then of finding out; I think we could have it, a sort of in utero test but it carried a risk and we decided not to take the risk; carried the risk of miscarriage and we decided not to take the risk, and we actually didn’t, at twenty weeks we didn’t find out whether we were having a boy or a girl because again what difference does it make; there’s no preparation you can make for having a baby with Alports, there’s no need to prepare because they don’t have any needs as a baby, so we just thought, you know we’ll carry on as normal parents with a normal baby and see what we get and we got a girl [laughs].

Aah

But yeah and that was, you know a fifty/fifty chance and we got lucky I suppose didn’t we?

Were you thinking about it during the pregnancy; did you have thoughts about this or were you just like?

No I didn’t, I thought I would. I thought, you know in advance I thought I’m going to, you know this is going to be on my mind, this is really going to worry me and it didn’t really. You know I suppose you just get used to anything don’t you and you just live with it and you just put it, you park it don’t you until you need to deal with it. So, yeah periodically we would worry [laughs]. We didn’t particularly talk about it together cos, again what’s, there’s, there’s no use in, there’s nothing to achieve by worrying about it so, you know we kind of said, “Well we’ll just, we’ll cross that bridge when we come to it.”

The pregnancy was not great towards the end because of the pre-eclampsia. I was poorly when I had her and I had to be knocked out for emergency section so, actually when she was born [laughs] I wasn’t there.

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Women had differing birthing experiences. Some were induced early before full term and some had caesarean sections (C-section). Women talked about their post-natal care and how they felt after giving birth. Frances said her son was given a DNA swab at birth to be tested for Alport syndrome. Lucy wanted blood taken from the cord after the birth of her son as she wanted to test whether he had Alport syndrome, but felt “too knackered to fight her corner” when doctors said it was 3am and they weren’t sure which test needed doing.

Debra felt her pre-natal care and delivery were excellent but that the post-natal medical team had no understanding of her kidney problems.

Age at interview 33

Gender Female

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And the consultant had left notes to say, if readings go beyond a certain level, it’s an emergency Caesarean. So they had all their instructions from her over the weekend. But then Monday morning came, and the midwives came round at eight o’clock in the morning and said to me “You’re having your Caesarean this morning.” And I was like “Oh, okay.” She said the lady who was booked in this morning had to deliver an emergency over the weekend, and you’re top of the list. So you’re up.” [Laughs].

Oh my gosh, that’s quick, wasn’t it.

So, yeah. So I ended up, [my son] was born on the Monday morning.

Wow. So you were – were you quite rushed in?

No, it was – no. It wasn’t at all. And that was – I would hate to have had an emergency. It was so relaxed and calm. The anaesthetist was brilliant. You know, he said “This is not an emergency, you know, we’ve got lots of time. You ask any questions, you know, we’re not in a rush.” So the, the theatre staff were fantastic. They were really, really good. And I was terrified, because I’m terrified of anaesthetic. And so, so obviously he was born, and

How did that feel, like going through that then?

I was just, I was just –

You were really worried?

Yeah. I was. I was really worried. And, but yeah then he was, then he was born and that was fine. And then I lost a lot of blood during the operation. So they say the normal amount to lose in a Caesarean is 500ml. Anything over a litre is a blood transfusion. And I lost 900ml. So I was borderline for a blood transfusion. So my – I had, I was taking iron supplements all through the pregnancy because my iron levels were low. And so my iron had dropped. And the day, was it the day after? Yeah, the day after [my son] was born, the – I – midwife got me out of bed. And I hadn’t had anything to eat, I hadn’t had anything to drink, my iron levels were low, I hadn’t slept because I had the newborn baby. And I got out of bed, sat in the chair, and collapsed. Like completely unconscious. Because all the blood had just rushed.

Aww. Yeah.

They took my blood pressure, and my husband said that it was so low that they thought the machine wasn’t working. So obviously they hit the emergency button, team of doctors appeared from nowhere. And my husband was just left, newborn baby, with me unconscious, it was not nice. And so I sort of regained consciousness with this oxygen mask.

Yeah, so I regained consciousness with this, you know, oxygen mask, all these doctors. So I started panicking. And they just raised my legs and, you know, got the blood flowing and everything again. And then they put me on a drip.

And told me I wasn’t to get out of bed, or to do anything. And actually that they were gonna take another blood sample to check if I did need a blood transfusion. But they came back the next morning and said that I didn’t, and that – you know – things would be alright, I could go home. But the whole care throughout my pregnancy, it was just fantastic. Like I felt, really, really well looked after. And the theatre staff were excellent, delivering [my son]. But everything else was a disaster.

Aww.

You know, they were like – I was a high risk pregnancy, there wasn’t a single person that knew anything. I’m not even expecting them to know about Alports, but to know about renal conditions, you know, I was a patient with a renal problem. I lost loads of blood, and I had low iron, and not one – you know – I didn’t even see a doctor. Like not one person was interested. Not one person was, you know, monitoring that and making sure that everything was as it should be.

That, that side of it was really, really, really bad.

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Women were often told to resume their blood pressure medication after the birth of their child. Some felt that they didn’t want to be on medication while breastfeeding.

Lucy wasn’t keen to take blood pressure medication while breastfeeding.

Age at interview 38

Gender Female

Age at diagnosis 8

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And then I think after that pregnancy then I was breast feeding and they wanted me to go on the blood pressure medication and I resisted because I was breast feeding, and again I didn’t, you know I was fine, I’m fine [laughs]; don’t need medication, don’t want to be on medication forever, didn’t see the point. Got pregnant again fairly soon after I’d finished breast feeding so that’s another reason to delay any need for medication. So, really wasn’t sort of particularly listening and looking after myself at that stage till-. And then I was on some blood pressure medication after my second child. I didn’t have any problem with pre-eclampsia on the second pregnancy but my blood pressure didn’t, never did sort of come back down to levels that the GP was happy with, or that [hospital] were happy with. So they continued to nag me as I thought [laughs] about my blood pressure and eventually I sort of relented and gave in and started taking some medication and then wanted to try for another baby and that was another reason not to, and you know it’s all just a little bit like that all the time.

A little bit kind of

Of just not really seeing the point; not particularly arguing with them about it, we’re just sort of saying yeah, yeah, yeah and then thinking, ‘No’ [laughs].

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Some women talked about having more children after their first child. Angela said she left it 3 years between her first and second child because she wanted her kidney to recover. Some were weighing up whether they would want to have a natural conception in the future.

Debra would not want her next child to be conceived naturally and is considering her options.

Age at interview 33

Gender Female

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We’re thinking at the moment, you know, do we want to try and have another child? We would like to. We’ve made a decision that we will absolutely not do it naturally again, because we know what that’s

Not?

No. Definitely not.

Ah.

Because we went into that process last time not knowing the reality of how it would be. We’ve now experienced it, and we would never do it again. And actually, we don’t know if we would have done it had we known what the experience was gonna be. So we’re not willing to take our chances for a second time

And what we don’t want to do is have to face that, already having – I think, I think your mindset’s very different when you have a child to when you don’t have a child.

Yes.

And I think now that we have a child, to think about a termination is something that we both think ‘do you know what, we wouldn’t get over that. Not that we would have got over it before, but it would have been a different experience.

Yeah. You’d got nothing to base it on before have you – yeah.

We had nothing to base it on. And now we know exactly. We know exactly what – how stressful that is, how – the impact that it would have on our son as well. So we’ve decided that we definitely would not do it naturally, next time. So I have contacted the genetic counsellors at [hospital], to find out – you know – can we go and see them again? And they’ve said “Yeah, that’s fine. Get a GP referral. But just to make you aware, now that you have a child, if you do want to do this it will cost you £12.000 per cycle.”

And we’ve also got an appointment to see the – I think the equivalent actually of the lady at [hospital], but at [the other hospital] this time. So she’s, my renal consultant’s referred me to her clinic.

Yeah.

Because she does pre-pregnancy counselling for renal conditions.

Ah.

So we’re gonna go and see her in April. Because, you know, I’m a few years older now, and we’ve just got lots of questions around – you know -, you know, does – does one pregnancy determine the next pregnancy, or?

You know, I’ve had pre-eclampsia already, what – what does that, what will that mean? You know? If we were to go down the PGD route, actually what impact would that have on my kidneys? So there’s lots of questions that we’ve got for her, before we decide actually do we want to go and see the genetic counsellors.

And given the cost, if we were, it would be a one time thing. And we would go into it on the basis of, if it’s meant to be, it’ll happen. And if it’s not, it’s not. You know, so.

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Women said that they felt most supported during their pregnancy when a doctor or nurse had taken the time to understand Alport syndrome and they were not treated as a “generic case’.

Angela felt that she was treated much better during her second pregnancy when she was under the care of a specialist team.

Age at interview 40

Gender Female

Age at diagnosis 10

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The only thing I would say generally outside the hospital, something I mentioned to you, that when I had my first child I had – I was just treated generically. Which was probably more stressful. I much preferred the second time when I had a specialist team, who I was to. I just saw the same person. They understood, they – you know – the person who was dealing with me looked into Alport because she hadn’t dealt with it before. The doctor who dealt with it. And so you felt like they knew what they were talking about. Quite often doctors have not come across it. And have certainly – if you go to your average GP, probably at most they will know that it’s some sort of genetic kidney condition. They might know, they might – I suspect they’ll probably say it’s some sort of genetic kidney condition, that you might have kidney failure and have hearing problems.

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Lucy was really happy during her last pregnancy when her consultant knew about Alport Syndrome.

Age at interview 38

Gender Female

Age at diagnosis 8

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They’d never heard of it no. And actually in my last pregnancy which was only two and a half years ago I remember having an appointment with the consultant there and just coming out of it completely just almost on a high just saying to everybody, “She was brilliant; she’d heard of it.” She said, “OK, so you’ve got this condition, you’ve got high proteinuria so we’ll ignore that and we’ll look at other stuff, like what your blood pressure’s doing throughout your pregnancy because that will be a sign of there’s a problem.” And I was just like, “Yeah can we just, can we just ignore that because I’m so sick of explaining it to everybody [laughs].”

And it was just really refreshing that firstly that she’d heard of the condition, even if she’d only heard of it ten minutes before my appointment, she’d taken the trouble to look it up before she saw me; and secondly that she kind of had a solution and she wasn’t just going to say, “Oh well yes, well that could be a sign of this or it could be a sign of that.” She just said, “OK, push that aside, let’s look at other stuff that could, that will tell us what we need to do for you in your pregnancy.”

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Alport syndrome and relationships

We asked people how having Alport syndrome had affected their relationships and friendships. We interviewed single people as well as those with partners and children,...