Kay

Age at interview: 35

Brief Outline:

Kay’s husband and youngest son both have polycystic kidney disease. Her son may also have calcium on his kidney, although this has not yet been diagnosed. They have signed up to take part in the 100,000 Genomes Project.

Background:

Kay works part-time as a Customer Service Assistant, and is white British. She is married and has three children, aged 12, 10, and 5. Her youngest child has polycystic kidney disease.

More about me...

Kay’s husband and five year old son both have polycystic kidney disease (PKD). Her son was diagnosed after some concerns were raised at the 20 week ultrasound scan. PKD causes high blood pressure and Kay’s son is on a low salt diet to control this. Recently the nephrologist found what he thinks is calcium on his kidneys. At the same appointment, the family were invited to take part in the 100,000 Genomes Project. They were given a letter which Kay found difficult to understand. She said she was “blown away about it all at first”. She went on twitter and contacted Genomics England. She was very quickly directed to the Genomics England website which she found much easier to understand. 

Kay is very much in favour of medical research because she wants answers and she hopes there will eventually be a treatment for polycystic kidney disease. She would also like to know what is causing the calcium on her son’s kidney. 

She is waiting to hear when she, her husband and son will give blood samples. She is not concerned about giving blood, although she worries that the samples her son gives might affect his kidney and not lead to answers. If anything is found through the sequencing of their genomes she is happy to be told by letter because she would rather be at home with her husband to absorb the news. If there is nothing found she would like to be told face to face so she can ask questions about what the next steps will be. 

Kay would like better communication from Genomics England as she has not heard anything since agreeing to take part in the study.

Before taking part Kay had not heard of the project, but now she is hearing more about it on social media and internet forums.

I was a bit blown back by it all at first, bit blown away. Because I'd obviously never heard of it. So yeah, I was a bit –

So it's completely new to you?

Completely new, yeah. Yeah.

And did you find the information that you were sent understandable?

Not at first. But by going onto Twitter, I searched it through Twitter, and somebody on Twitter - I put a question about, you know, I really have no clue about what it is. Even though I'd read the letters, it just didn't sink in. So I spoke to - well, just sent a little message on the Twitter page that they have, and then somebody forwarded me a link which I think sent me to an internet link which explained in black and white, understandably.

So you hadn't heard anything about the 100,000 Genomes Project before. Have you sort of noticed that you're hearing more about it? Or are you still not, outside of your involvement?

I'm hearing more of it in on Facebook and Twitter. 

Right.

Whether it's because I search for it, I don't know. But prior to that, I'd never - never seen it anywhere, never heard of it. There's a few of the people in the forums that I go onto, regarding polycystic kidney disease forums, and there's a few people that are on it. They also sent me forward to Birmingham Children's hospital website, and then since being on there I've found them all talking about it, like all these other adults with children that are also put forward for it.

Kay used Twitter to contact Genomics England to get more information about the project. They sent her a link which she found really helpful. The Twitter response made a huge difference to her deciding to participate.

I was a bit blown back by it all at first, bit blown away. Because I'd obviously never heard of it. So yeah, I was a bit –

So it's completely new to you?

Completely new, yeah. Yeah.

And did you find the information that you were sent understandable?

Not at first. But by going onto Twitter, I searched it through Twitter, and somebody on Twitter - I put a question about, you know, I really have no clue about what it is. Even though I'd read the letters, it just didn't sink in. So I spoke to - well, just sent a little message on the Twitter page that they have, and then somebody forwarded me a link which I think sent me to an internet link which explained in black and white, understandably.

Okay.

So it just made it much easier to read, like kind of - it was broken down into scenarios, which made it easier to understand.

Right. So what did you actually get sent in that first - when you first -

That first letter?

Yeah.

It told me about the person who, who it was that would contact me. And then just basically thereabouts saying that, you know, as [Son] has what we would class as a rare condition, we've forwarded him, we've enrolled him into this genetic, this -

Genome.

Genomes, yes, project. And then explained in - I suppose in their terms, what I would say, a doctor's terms - explained it. It just wasn't - whether it was a bit too much to take on board at the time, I don't know. But it just, there was just a lot of information.

And did they send a leaflet or a booklet with it?

No, I didn't have a booklet.

Right.

No. But I obviously found that kind of booklet information through the website, yeah.

Yeah. Okay. And was it - can you remember which website it was, that you were sent to? There's a Genomics England website?

Yes. I think it might have been that one. Because it was those I think that actually, that I -

Tweeted.

Tweeted, yeah. That I found on Twitter. Yeah.

Right, okay. And were they quite quick at getting back to you on Twitter?

Straight away. Yeah. Straight away.

Oh, that's good.

Yeah. Yeah.

And you got the link. Did they check up after you'd - did they get back to you on Twitter?

Yeah, well I obviously put, you know, thank you so much and they says, you know, if it helps, great, or if you need any further information, just let us know, so.

Okay. And you say that on the website, it was broken down into scenarios. So did they use pictures, or was it –

Yeah, there was some pictures. And there was kind of like explanations. You know, like saying like using another person. You know, so and so has this, and we don't know what it is, so we're looking into it. But somebody else could also have the same similar thing, so we're going to like group them together, and figure it out that way. It just made a lot more sense, seeing it written down. Like obviously - well, it was on screen obviously, but it just made it a lot more easy to understand.

That's good.

Yeah.

And did you - do you think if you hadn't been able to go on Twitter and get that additional information, do you think you would have agreed to take part in the study anyway, when you couldn't really understand it?

No, I probably wouldn't have. Because at first I just kept thinking well, do they - Like because nobody, no one actually told me that like you have to wait for, you know, the amount of people - nobody said anything, it was just left that you are enrolled and this lady will get in touch with you, from like the hospital. But through the website was where I found out that it's a waiting game. And it's just where you literally just wait. And then -

Wait for results?

Wait for results, yeah. Yeah.

Little is known about her son’s rare condition. Kay wants to take part in the project so that eventually there will be a treatment for it.

I do it because I want as much research into whatever it is that [Son]'s got, so that hopefully eventually, potentially, there'll be some treatment for it. You know? Because obviously we don't know, the doctors don't know enough about whatever [Son]'s got, to give me any answers about it. You know, I keep saying, "Well what does it mean? What will happen to the kidneys?" And the poor nephrologist just can't give me any answers [laughing]. He tries. But because he's never seen it before, and especially alongside the polycystic kidney disease that [Son]'s already got, that we know about and we know treatments and that, but with this thing that's spread through the cells of the kidneys, we just hope that somewhere, or somewhere along the line another patient might have the same. And then we can see what they're - you know - what their function's like, or if they get poorly, or.

Kay found the project information leaflets difficult to understand so her husband read them and he reassured her that taking part in the project would be a good thing.

Did you discuss taking part with him?

Yes I did, with [Husband]. It was, it was my husband that had to kind of look at all the information. You know, because it literally just went over my head. So [Husband] looked through all the information, and said to me "I think the only thing that could come from it is good, don't see how it's going to - you know - affect us badly or negatively." So he says, "Yeah, just go with it and see, see what the outcome is." Yeah.

And did you discuss it with any other member of your family, or any friends?

No, there's nobody else that really knows about it, because I don't think they'd have a great understanding about it anyway, so.

Kay says she was expecting the sorts of questions she was asked on the consent form and once it was explained to her she felt it was “understandable”.

And then you gave your - you signed that consent form. And was that quite clear to do?

Yeah. Yeah. Just basically, do you agree with enrolling [Son] into this project? Yeah. 

Okay. The consent forms contained several tick boxes about health data, confidentiality, and stuff like that. Was that all made clear on the form?

Yeah.

Is there anything you would change, or?

Probably not. I think generally when you get forms like that, as a parent you kind of already know that you will be asked those kind of questions anyway. And if, generally if you're enrolling your child into something that's, that's going to be quite a big thing - like through hospitals, and elsewhere - you know that you're going to have to give kind of that kind of data out. So I was quite, yeah. Once they explained it back, it was understandable. Yeah.

Kay says that if her results find something she would prefer a letter, whilst if nothing is found she would prefer an appointment with somebody to discuss next options.

If it's just to say they've not found anything, I would perhaps want an appointment to see somebody so that I can then ask what, you know, what will happen then - do you just leave him, or? If it's to say they've found something and it's this, that or the other, then I think perhaps I'm happy with just a letter. Don't think - yeah. Yeah. Don't. Because if it's, if it's something - because if it is any further treatment, then we'll obviously get an appointment anyway. If it's just to say "Oh, it's nothing to worry about." A letter's fine. But if they've not found anything, I would want to speak to somebody then.

So if they say "Well we found, we've found that it's this." Then you –

I'm happy for a letter.

You're happy for a letter? That's really interesting.

Yeah. Yeah.

So you wouldn't want to discuss it further, or?

No.

Why's that?

I think because if it's something I don't want to hear, and I probably get a little bit upset, or agitated, or - I'd rather be at home, in my own comfort with my husband. But if it's to say they've got no answers, or - I'd want, I'd want to ask what, what are you going to do next? Because if they just sent me a letter to say "Mrs [Name], we haven't found anything." I don't want it to be left like that.

Kay feels that potentially she could get an answer, a result or reason for her husband and son’s condition.

Do you have any messages for any other people who might be thinking of taking part in the project?

In my eyes, what have you got to lose if you don't go for it? Because at the moment we've got no answers. And potentially you could get the answer, or like a reason, a result. So yeah, I think go - just - don't know what would hold people back. Yeah. Unless it's themselves and they don't want any testing done anyway, then that's understandable. But I can only speak as a parent.

Kay would like more communication and to know what’s next in the process.

Yeah. So far, I think more communication. I think. I don't think we get much communication, in terms of like how long the process could be, or should be. So for someone who's pretty new to it all, I don't know whether I just sit and wait, or whether I should get onto them. You know, and ask more questions. So I think because of we've not really had much communication about it, I've got the info, I just need to know the process of, of getting like the samples, and appointments and stuff like that. I don't know whether I should wait, or whether I should phone and ask.