Alport Syndrome
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. Most women were advised to change their blood pressure medication should they become pregnant.
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.
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.
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.
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.
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.
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 CVS (chorionic villus sampling) 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”.
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."
Others such as Lucy didn’t want to have more intrusive tests such as the CVS or amnio because of the risk of miscarriage.
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.
Women had differing birthing experiences. Some were induced early before full term and some had caesarean sections. 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.
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.
Some women talked about having more children after their first child. Angela said she left it three 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.
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”.
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.
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."
The GP told Frances that her creatinine levels would need to be checked every week during the pregnancy.
The GP told Frances that her creatinine levels would need to be checked every week during the pregnancy.
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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.
Jayne was unaware she had Alport Syndrome throughout her pregnancy.
Jayne was unaware she had Alport Syndrome throughout her pregnancy.
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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.
Amanda had protein in her urine and high blood pressure during her pregnancy but didn’t know she had Alport Syndrome.
Amanda had protein in her urine and high blood pressure during her pregnancy but didn’t know she had Alport Syndrome.
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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.
Lucy had a triple test (combined test) during her second pregnancy but rejected an amniocentesis because of the risk of miscarriage.
Lucy had a triple test (combined test) during her second pregnancy but rejected an amniocentesis because of the risk of miscarriage.
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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."
Lucy and her husband decided not to have a CVS test to find out if their baby had Alport Syndrome.
Lucy and her husband decided not to have a CVS test to find out if their baby had Alport Syndrome.
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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.
Angela felt that she was treated much better during her second pregnancy when she was under the care of a specialist team.
Angela felt that she was treated much better during her second pregnancy when she was under the care of a specialist team.
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Lucy was really happy during her last pregnancy when her consultant knew about Alport Syndrome.
Lucy was really happy during her last pregnancy when her consultant knew about Alport Syndrome.
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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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