Lucy

Age at interview: 38

Age at diagnosis: 8

Brief Outline:

Lucy was diagnosed with spontaneous X-linked Alport Syndrome when she was a child. Two of Lucy’s children carry the Alport gene. Lucy would like to make sure that they will receive the best possible care in the future. Until then, they try to live as normally as possible as a family.

Background:

Lucy is married and has three children, aged 9, 7, and 2. She is self-employed, and works as a pet behaviourist. Ethnicity: White British.

More about me...

When she was 8, Lucy was diagnosed with spontaneous X-linked Alport Syndrome, which means that she was the first person in her family with the condition. The diagnosis didn’t have much impact on her life apart from going for more regular follow-up appointments and hearing tests, which became a normal part of her life. She feels that at the time of her diagnosis, women with X-linked Alport Syndrome were only considered to be ‘carriers’. She feels that the implications of this genetic condition were not clear.
Lucy and her husband took part in genetics counselling, and they considered the possibilities of pre-implantation genetic diagnosis (PGD) through IVF. However, she became pregnant before they could make arrangements for artificial insemination. Lucy is aware that some people might judge her for taking the risk. She feels that her decision to go through with the pregnancy was an emotional and extremely personal one.

Lucy has 2 girls and one boy all through natural conception. Her younger daughter and her son carry the Alport gene. When she found out about her children’s diagnosis, Lucy remembers feeling “hugely guilty”, but she thinks that the only thing they can do is to “bear with it and get used to it”. Yet, she thinks that an early diagnosis will help her family to arrange the best possible care for her children. So far, Alport Syndrome hasn’t affected their daily lives and they live a normal life. They don’t feel the need to talk about it much, and Lucy would like to explain it to the children gradually, so that the children wouldn’t have worry about it ahead of time.

Lucy has found the website of Alport UK most useful in complementing the medical statistics that she receives from doctors. They have also been to one of the national charity and support group’s information days, which was the first time Lucy and her husband met other parents who were in the same situation and had faced the same decisions. Talking to adults with Alport Syndrome reassured Lucy that her children will be able to grow up and have a full life with the condition.

Lucy describes wanting to ‘normalise’ things for her children.

And yeah, and it was always just one of those things, and I think because I've never had any ill-health or any worry about it, it's just not -, it's just been off the radar; you know I've never needed to kind of feel upset or aggrieved or [laughs] – Hard done by because it's never -, it's never been a problem.

Not really bothered you?

It's just one of those things that’s on my medical notes and doesn’t affect me until I have to explain it to everybody in pregnancy [laughs].

So yes - so I might ask you about that in a minute. So that’s quite a positive feeling then I guess that - ?

Yeah

It's something that hasn’t really sort of – 

It's just taken for granted, completely taken for granted; it always was all the way through my childhood. I think, you know my siblings were probably vaguely aware of it but only in the sense that I got to miss a bit of school occasionally cos I had to go to the hospital.

But I was never ill with it.

And we've been quite keen - I guess, I mean you'll want to talk about my children but we've been quite keen to follow that pattern ourselves as a family to make sure that it is just the norm for our children.

And that there is no kind of before and after line where they're told something and there's an announcement and it's worrying and -, you know.

After diagnosis Lucy describes her hospital appointments, and transition to a different hospital.

And I was off the antibiotics by then as far as I can remember. But then I was followed up fairly regularly, pretty, pretty frequently at [hospital name] hospital by the paedia -, paediatrician there with hearing tests and paediatric appointments, and I think probably several times a year initially and then it was cut back eventually to annually. And I stayed -, I was looked after by the paediatric department for a little bit longer than usual just because it was convenient I think, and then I was transferred to [hospital] care for routine follow-up again and that probably was when I was about sixteen I should think.

OK

And the care at that stage did change. I do remember going -, I think my mum came with me to the first appointment at [the hospital], and having been talked to by a very nice doctor at [the hospital] who had kind of, you know told us that the situation was that I was a carrier of Alports; that there was never anything to worry about. There was -, I think the doctor at [the hospital] that made some statement along the lines of, "You -, there is no reason why you couldn’t go plenty more years before your kidneys start to failure." Certainly that was the interpretation that we, we got from it. I don’t think she quite said that, and I'm certain obviously she certainly didn’t mean it, but that was certainly -, there was a little bit of worry induced by that, and I remember my mum particularly being a little bit annoyed about that because she was sort of saying, "Well what's -, you know what's all this, this is the first we've heard of there actually potentially being any kind of problem at all?" And they -, the particular problem still, as far as I'm aware. As far as my care is concerned I don’t have regular hearing tests anymore unless I ask for them. I do have annual follow-up at [the hospital], and they did actually discharge me for a bit and then I asked to be just looked after again just to keep an eye on me, and as much for the sake of my children just to kind of maintain a contact at [the hospital] as well, although the children are looked after separately. So I am still followed up annually at [the hospital] with bloods and urine tests and hypertension care of course as well because I gather that is probably linked to the Alports; I do have hypertension and that’s managed by my GP, but overseen by [the hospital]. 

Lucy talks about her appointments and asking questions.

Yeah that’s right. Yeah so, I did for the first ones, you know I had a relatively long list for the first ones and, you know we've been to this day and we've heard about this and we've heard about that and, you know, and questions like, impossible questions for them to answer obviously, but things like, 'When will he get hearing loss,' and, you know, 'When is likely to show any increase in symptoms,' and things like that, and of course they're only, their answer was always just going to based on statistics and you just never know on then individual basis.

And what sort of stuff did they tell you about those statistics or - ?

They confirmed what we already knew. So, I think I kind of asked the same questions fairly frequently to check that nothing's changed; you kind of live in hope all the time that things are going to change and there's going to be a miracle cure as well [laughs]. And you know I talked to them about, not so much actually these consultants, but in the past I have talked about the process of what happens in kidney failure, you know what treatments there are for kidney failure; how that works. Whether my kidney is going to be any use for my children, which it isn't [laughs].

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

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

So that was really useful. We talked about the, obviously the sort of statistics, the odds of having children with Alports which we knew anyway from our own research by that stage. We talked about the implications of that in terms of their health. He was excellent to talk to; very non-judgmental, very, you know open to just giving us the facts and, you know only advising us in the sense that -, of saying things like, "You may just want to consider who you talk to this about. So, you know maybe don’t talk to too many people about it because people do have a view and it may not be -, it may be slightly painful for you to hear that view." So that was good advice actually that we -, we did take on-board. And he was also quite encouraging because obviously, you know being based in the same clinic he has a lot of expertise in the current research, and even back then which was ten years ago now nearly he had some fairly encouraging news about what's involved with kidney patients because my understanding, my experience of people who I've known who've had problems with their kidneys has, you know it's not been good, it's not been a good way to go and, you know one person in particular I remember being extremely poorly with it and you know it's not something you would wish on anybody. But things have come on you know. Transplants are far more successful; dialysis is much more of an option now than it used to be and so he was -, he was encouraging in that respect. The reality of it, you know the statistics, the odds, never changes; that’s always what it is. And at the time he was able to give us some information about statistics again in terms of the ages at which people with Alports become, or show symptoms, become poorly or show other symptoms. I think at that time he didn’t mention ACE inhibitors because I don’t think that was anything that was on the horizon at that stage, so there wasn’t a treatment at all at that stage.

Lucy describes how difficult it is to make a decision about having children naturally or not.

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.

Lucy describes the dilemma she faced around naturally conceiving.

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.'

Lucy asked her consultant about whether her son might already take ACE inhibitors.

But the results that they’ve been getting look really promising in terms of the earlier in the process, the earlier in the sort of symptoms the patient is given the ACE inhibitors, the longer the delay before the symptoms progress.

Yes

And it looked, so I mean the geneticist is saying you know it's early days and it's very early to be drawing firm conclusions. It does look encouraging but it, you know tread with caution. But I was really encouraged by some of the results which seemed to show that if people were given ACE inhibitors before they showed any symptoms those patients are still healthy.

Which is why I asked the question of the consultant about whether [my son] could be put on them.

Before he showed symptoms and he said, "Well, you know in terms of cost benefit then - , then we wouldn’t do it," and I was slightly disappointed but you have to put your hands in the, you have to put yourself in the hands of the professionals, you can't – 

You know they, they're not going to make a decision that isn't for the best of the patient are they?

So, he's acting on the, he's acting to the best of the knowledge he has at the moment and that’s all we can ask of them and, you know the specialists have the up-to-date knowledge so it's not like, it's not like going for a, to a GP and asking them what they think. This is, you know this is somebody who does know where the research is heading and what the conclusions are so far.

Lucy feels the research on medication such as ACE inhibitors is encouraging.

Well the ACE inhibitors that they seem to offer some. So, as well as obviously having their, they're dealing with the blood pressure as well as having that effect, they seem to offer some protection to the kidneys and they seem to slow the decline and the damage that’s done to kidneys. And I'm never entirely sure whether the actual, the leakage of protein through the kidneys causes the damage or is a sign of the damage, but the ACE inhibitors seem to limit that anyway; they seem to slow that in a patient who already has that; they seem to limit that I think is my understanding. 

But they, the research that’s happening at the moment, obviously it's only a longitudinal studies so it just takes forever doesn’t it? 

But the, the results that they’ve been getting look really promising in terms of the earlier in the process, the earlier in the sort of symptoms the patient is given the ACE inhibitors, the longer the delay before the symptoms progress.

And it looked, so I mean the geneticist is saying you know it's early days and it's very early to be drawing firm conclusions. It does look encouraging but it, you know tread with caution. But I was really encouraged by some of the results which seemed to show that if people were given ACE inhibitors before they showed any symptoms those patients are still healthy.

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

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."

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

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.

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

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].

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

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." 

Lucy doesn’t follow a special diet but is careful about what she eats and drinks and has cut down her salt intake.

Do you have like a special diet and – OK?

No, I have asked the question and – 

Just get a very kind of blasé, a blasé answer, something along -. I think I was, someone said to me once, "Well you need to not have too much salt but then of course you wouldn’t have too much salt would you?" and I was kind of like, "No, no course not," and then kind of thinking, 'Perhaps I should have pursued that slightly more.'

I mean I, I've got hypertension so I know that I need to be a bit careful with salt.

I've also got high cholesterol so I know that I need to be a little bit careful with generally what I eat.

And I think that, you know the advice generally is to eat a decent balanced diet and drink plenty of water and that’s easy enough.

And as far as [my son] is concerned I asked the question for him and they said keep the salt down as you would with any child, so yeah again nothing special.

Just, we've just got to treat him, treat all the children normally.

Lucy was nervous about going to an Alport information day, but feels it was one of the best things she did.

Well we go a lot of information from the Alports, the Alport UK charity information day; we went to that last, this last winter, last January. My husband and I went with [my son]. We hadn’t told the children anything at that stage; we hadn’t actually told anybody anything apart from my parents I think and my sister who babysat for us that day. Nobody else knew about [my son’s] diagnosis at that stage, so we went along to that and I was really worried about it, you know I was really nervous about what we were going to learn and how distressing it was going to be and, you know was it, you know it's just hearing about what my, my boy was going to have to go through. But it was, it was fantastic, it was the best thing we did because we got lots and lots of updated information; we made some contacts; we talked to some people who were incredibly reassuring and, you know we talked to people who'd been through it. And actually it's the first time that I'd introduced [my son] as somebody with Alports who, it's was the first time I was actually able to say it and it was really useful to also to meet some families who had made the same decision that we'd made and to feel that, you know we could discuss that and nobody was going to judge.

Having information and hearing other people’s positive experiences have helped Lucy and her family most.

I think the thing that’s helped us most is information and that’s probably a personal thing but I think it's really helped us to arm ourselves with as much knowledge as possible to be able to then go to appointments and ask the right questions and to get straight answers, and to not sort of feel that we're perhaps being protected from the truth or, you know being given information that with hindsight it's slightly disconcerting when, you know when you get home and you kind of think, 'Oh my god what did that actually mean?' You go in armed and then when you are given that kind of answer you can say, "Well what do you mean by that?" you know, "Does, but surely we were told at this stage that such and such is actually happening instead," and you can just question things a little bit more. So, I think for us that’s what's, that is what's helped the most. And meeting other people who are in the same situation because the, you know the-. Obviously the emotional side of it is very tricky and there are lots of people in our situation; lots of people who have children who have a condition, and lots of people who are a lot worse off than us and you know I hold that thought all the time. And a lot of people don’t, you know are just living with stuff and dealing with stuff every day and don’t share it so, you know I think it's, I think as an experience it's made me much more kind of considerate and tolerant of what other people might be going through.

But I think that, yeah having information is absolutely key for us and, you know hearing about other people's positive experiences is very, very helpful.