Heather and Julie

Brief Outline:

Julie and Heather both have a condition which means that their hair doesn’t grow. Although Heather was given a diagnosis of ectodermal dysplasia she does not have all the symptoms associated with this condition. They hope that by taking part in the 100,000 Genomes Project they might find out some more answers, but mainly they would like to help others in a similar situation.

Background:

Heather is currently studying for her A-levels and her mum Julie works as an analyst. They are White English.

More about me...

Julie and her daughter Heather both have a condition that affects their hair and stops it growing. Julie has had the condition since birth and she remembers when her daughter Heather was around 3 years old that her and her husband realised she had the same condition. Heather was given a diagnosis of ectodermal dysplasia, although she doesn’t actually have a lot of the other symptoms associated with this condition. Julie and Heather have seen lots of doctors and specialists but none could find what caused their hair not to grow, so they have “just accepted it and carried on”.  Despite having genetic testing several years ago which “drew a blank”, they have always believed that the condition is genetically linked.

Heather got a phone call from the hospital she had visited ten years previously inviting her to take part in the 100,000 Genomes Project. Heather said the call was a “bit of a shock”, but she was keen to take part and felt excited by the idea. They were sent an information sheet which explained what a genome was. Heather asked for more detailed information which was sent. Heather, her mum Julie and dad Nick all travelled to the hospital for a day and gave a blood sample. They remember being given a lot of detailed information at their appointment and were asked questions about data sharing. As they are quite knowledgeable about science in general, they trusted the process.

They expect to get results in about a year, although they are aware that they may not get any results as nothing might be found. Julie says that the “best case scenario would be, they might help us find out what is wrong and we might be able to get some resolution to it”. Despite this, they feel strongly that they have learnt to live with their condition and feel “comfortable” with themselves. Heather feels that even if they don’t get any results they hope their data will help other people in a similar situation. Heather feels confident in herself and accepts her condition and says that in some ways she isn’t that “bothered about knowing what’s wrong” because she doesn’t feel like she needs to be “fixed”. 

Julie is interested in any “peripheral things” that might be found that could benefit them, such as uncovering other genetic diseases. They are both keen to know “anything and everything”. Overall, both Heather and Julie have found the experience of taking part in the 100,000 Genomes Project to be very positive.

When Heather received a call inviting her and her family to take part she was surprised because it related to her childhood health records but she was glad to help.

Heather: We - when we went to [hospital] when I was little, we let them keep our details. And then I got a phone call about twelve months back, saying ""We’re running this project, we’ve still got some of your data, and we’re wondering if you would be interested?" So it was a bit of a shock, but. I was a bit like, well yeah, probably [laughing]. And then she sent me through all the information, and I spoke to my Mum about it, and she said she would be up for it as well, so.

What did they sort of say to you on the phone, when she rang you up? 

Heather: I can’t really remember, it’s a bit of a blur, but. Because I was quite shocked. We’ve not - like my Mum said, we’ve not done anything with it since I was like, I think a small child. So I’ve always just kind of accepted it, and carried on. So to have a really random phone call, just saying "We’re running this project for people who have got rare genetic disorders, and we still have your details, so we wondered if you would be involved, wondered if you would be interested in being involved in it?"

I think I was up for it. Not least because of my, our experience with the geneticist. In that I was convinced it is, we are linked in some way. That I just thought it might help generally the medical research. And you know, best case scenario would be, they might help us find out what is wrong and we might be able to get some resolution to it. Even if it is generally just finding out what’s wrong you know, we might - But to be honest, I think we’ve both grown up and lived with it long enough now that we’re fairly comfortable with ourselves. So I’m just as keen to help other people. Especially when I talk to my Mum, and what my Mum went through trying to help me, having never seen it before. And she didn’t know what to do. I imagine in my own mind other people like me, having a child - maybe not even - without the same condition as us, but with a different condition. Not knowing what to do, and just going week from week, different doctors. And if there’s something we can do to help, then why not? 

Heather and Julie describe a booklet that was given to them which was “bulky” and “technical”. It focused more on how the research would affect them rather than how it would be carried out.

Heather: The booklet that she sent was just basically saying what she would do with the information, and which information she would take. Didn’t it? So, it was saying that they were going to look for the connection between the genes, between me and you, and me and my Dad and see if there was any differences and similarities. And all the different things that they could test for. So they were also going to look for, if I could pass it on to children and things like that. And it just explained what they would, could look for, and what they would do, and how long the process would take. But I remember it talking a lot about how you might not get any results from it, and it might just advance but you might not get a definite answer, but I think, we were quite aware of that anyway.

Julie: I think we wanted more information about how they were going to do it.

Heather: Yeah.

Julie: Rather than how it would affect us, and what could happen. We were more interested in the –

Heather: Yeah.

Julie: - mechanics of what they were actually going to do. I think, and when they sent us the additional information, there was quite a lot of it. So it was quite a big bulky document. And we all had busy lives, and sitting down and putting a lot of time and effort into reading it all. Although we did between us, I’m fairly sure we did read it all. But it was sort of was one extreme to the other. So, sort of overly basic on the, with the basic form, and then this really thick bulky form full of technical terms.

Heather and Julie feel they have a rough idea of the pros and cons of the project because of their knowledge about science.

Do you think there could be any pitfalls with the project at all? Or any disadvantages or worries about the project?

Heather: Not for us I don’t think. Just if they don’t find any answers, and they've got to close it off. But even then, they might find answers, as I said, fifteen, twenty, thirty years down the line.

Julie: Mmm.

Heather: They might find something else that pops up. They might ask us again. 

Julie: I think, being asked that question makes me think about developments genetically where they’re trying to develop things that maybe aren’t natural. And I would definitely want to - if I thought that that might be something that had come from our samples, unlikely I know, but if I thought that, I would just want to know more information about it first. I think we’re quite scientific people anyway, so we’d be more positive about those advances and trying those things, than we would like 'oh that’s not natural, don’t do that'. 

Julie: I think we would be like –

Heather: I think we’re just quite knowledgeable about it. In, I don’t think we know everything about it, I’m not saying that. But I think in general when I think about all the different people taking part in this project, there will be some people out there that don’t know much about it, and aren’t very interested in the science side of it, that it's just not there thing. Whereas it is our kind of thing, and we’ve done a lot of research into it. And we are quite knowledgeable in science in general, and different test that can be done. And I think we trust them, because we know a bit more about it. So I think we, we have a rough idea of the pros and cons of those kind of things anyway, and we do tend to be a bit more sciencey in our views, so.

Julie: And realistic, I think. I think people are scared a bit, but I think people are scared of the unknown. 

Heather: Yeah, but realistic for different people mean different things.

Julie: Right. Yeah.

Heather and Julie hope by taking part in the project they might help other families with rare genetic conditions and possibly get a better understanding about it for themselves.

Heather: We don't really know that much about the condition do we? That’s why we’re doing this I think. There’s been a lot of confusion.

Julie: Yeah, basically every time we go and speak to the doctors they don’t really know what’s wrong with us. And I think the professor that did give us the diagnosis, still wasn’t a hundred percent confident herself. And I think that’s why it gets a little bit frustrating. And if it hadn’t been for Heather being our child, I think we would have given up trying to find out, really. But that’s one of the reasons why we want to get involved in the genetics process, and research in general to, just, not only help ourselves, try and find out what’s wrong with us, but to help other people as well if we can.

Heather: Because I think when I first found out about it, I was quite excited by the idea. And I think I’ve always said that I’d like to help other people in the same situation, because I know what we’ve both gone through. And we both had very different experiences with it, and I think that’s more to do with the background that we had, and the people that were around us. And I just want to share the things that we’ve both learned, because we have had two separate stories. And I thought this is a way that I can do that, and I can help other people.

Julie and her daughter were surprised how detailed the consent forms were.

Julie: I think they were very detailed, the consent forms. And I was surprised how, just how detailed they were. And that - to me, being part of the project, some of the questions they asked ‘would you be happy to share this information?’, so would you be happy to share this information with the people on the project? Well I wouldn’t be there if I wasn’t happy. But then, part of the rules and regulations that the researchers had to follow, probably that you did have to sign for that. I did, so I was just quite shocked really that, how much consent that you did have to get for each individual little thing. And all three of us did it, and had the blood test and we all had to fill in the forms. And I remember us sat in the room going through - maybe there weren’t that many sheets - but I felt like there were lots, lots of things that we had to sign. And without really - we didn’t really have to consider it a lot, whether or not - well I didn’t - whether or not I was going to consent for it. I think the only thing that I would’ve been concerned about, would’ve been about my personal details being in a public domain. But provided that they were only being used by people in the projects or people using it to - in furthering, serve medical research, then I was happy with that. 

When Heather and Julie were told they could get results about risk of future life threatening illnesses they felt that was a huge benefit to participating. But they understand why some people might not want to know.

Julie: So I think they talked about like an Alzheimer’s gene, and a breast cancer gene. And they would look for all of those within our cells, and did we want to - part of the consent was would we want to be told about that? Would we want - are we happy to be tested for those things?

Heather: Mmm.

Julie: If they found it would we want to be told? Or not be told? And I was like, "Wow, I didn’t know that there was somewhere where you could go and be tested for all these things. And yeah tell me. Tell me, if I’ve got something, tell me and then potentially I can do something to prevent it. Or at least I know what’s coming." But I can understand also people saying "Oh, I don’t really want to know." But for me, that was a huge benefit of being involved in the project, that I were getting an opportunity to be tested for things that , I wouldn’t even know how to go about getting tested for them if I wanted to be. So yeah definitely, I thought that was a huge benefit.

Heather: They just said that they would sequence the genome anyway, so while they were doing it they would do everything they can with that. So rather than just look for that one particular thing, they can look for all the different things. That everything that they could do with the sample that we’d given them, they would do with it. So I think they just tried to get the most out of it as they could, which - we were happy, more than happy with. 

Julie: And did you feel the same as me, in that if you, they found that you’d got a breast cancer gene?

Heather: Oh yeah. 

Julie: That you would want to know, would you?

Heather: Yeah. But I can also understand why you wouldn’t want to know. They asked about if it would affect our relatives, would we want them to tell them. And would we want it - what information we would want to be given to who, and. I can understand why people wouldn’t want that, and they need to ask those questions. So I think we’re quite happy and open, but other people wouldn’t be. So, I think it was, I think it was good that they asked us those questions.

Julie: Mmm. I just generally felt like that was a huge benefit that I didn’t realise was coming. And even if I’d have had a leaflet through the door saying you could come and have these tests, and find out if you had any of these genes, and its going to cost a hundred pounds or whatever, I would have seriously considered just going and having it, just for that anyway. So it was definitely something that I came away feeling positive about, thinking 'oh, this is really good - I’m really glad I’ve done that'.

Heather and Julie haven’t heard back and would value some feedback or information even if it is generic and not specific to them.

Julie: Mine would be, if possible give as much feedback to the participants as you can. Even if it’s negative feedback, in that you haven’t found anything. Just to let us know that you’re out there, and that you’re doing it. A quick email, just to say we’ve still got your samples, you know, any concerns get in touch - that sort of thing. I think the fact that we know that we’re not going to have any contact from them

Heather: Yeah, they could send us a bit more information couldn’t they. We’ve not, since we gave the samples, we’ve not heard anything from anybody about it. It would, maybe it would be nice to - even if they gave us back information about ah, this is what we’ve found so far, or this is what we haven’t found. Or even general information. They could say about now this is what we’re doing, and this is how we’re trying to make the project better know, or this is what we’re trying to do with the results we’re getting, or just general information that they could send us and just keep in touch.

Julie: Yeah. I would definitely like a bit of feedback. Even if it was we haven’t really found anything. I’d just like to know they’re still there and they’re still doing it, and.

Heather: It doesn’t even have to be personal feedback though, that’s what I’m saying.

Julie: No. I agree.

Heather: Just a generic email that they could send everybody, saying so far we’ve found this many results, or we’re at this stage in the project now, and we’re grateful that you took part.

Julie: I completely agree with that.

While Julie feels there are many gains with taking part, Heather says to make sure you’re comfortable with it.

And if you had a message for other people taking part in the project what would that be?

Julie: I think I’d say "What’ve you got to lose? You’ve everything to gain for yourself possibly, and general medical advancements, and research advancements. Think, what’ve you got to lose, apart from a bit of blood?" What do you feel, then?

Heather: I don’t know. I think I’d just be like, make sure it’s what you want to do, don’t be pushed into anything. Because if you want to just carry on - If you were asked when you were my age, you’d have been like "No go away, I don’t want to know anything about that." And I think if that’s - if you’re trying to move on, or forget, or - then make sure you’re comfortable with that. Don’t feel pressured into it. Don’t think - It’s not for everybody, so make sure you’d be happy with it, and it’s not going to make you feel any worse.