In general what is your attitude to the idea of taking part in medical research?

Excellent because it’s vital isn’t it. And I appreciate that it’s vital that people co-operate and, and that’s why I want to do it. Yeah.

Ok. Vital, what do you mean by it?

Well if we didn’t co-operate no one would find out. I mean if we want to be helped with health conditions they need to know more and more of where things start and what it’s about. So that is vital. I think it’s very important.

Why do you think like that or have this attitude about the importance of

I think it’s, it’s in the genes. I am just curious. I’m a Gemini. I’m a compulsive communicator. I just like to be involved so it was right up my street to be involved. Shall we say.

Ok.

Which is not a, I understand that not everybody wants to divulge every detail but I’m very willing to because it’s so important for the outcome of this project, yeah.

Well I was born with dilated cardiomyopathy. Well we think I was born with it. I was 6 weeks old when I got diagnosed. And we just never knew where it came from. So we’ve got no one else in the family that has got any signs of cardiomyopathy at all. So we just didn’t have a single clue. I mean no one could really tell us what caused it whether it, I was born with it or whether it was a, an infection. At such a young age you don’t really know. So yeah it was just one of those that it’d actually be really nice to, to know where it came from, especially for my own family planning and things like that. My partner and I do want to have children soon. So it’s just a case of thinking on really because there really is a 50% chance if it is genetic that I could pass it on. So yeah it would be, it would be good to know not that it would put me off but I think..

Ok

.it would be nice to know.

And that’s why I used the genome project. It was – I have other members of my family that have dislocated joints, and bendy joints, and want to go down the route of having children. And if I can find out – because I’m the only one in the family that’s got this condition. I had a Granny that had a muscular disorder, but in those days they didn’t have EDS, and they didn’t know about it. So I’m the only person that’s displayed any symptoms, so we’re trying to find out if it’s me that’s started it, or if it is actually in the whole family. In which case the other members of my family need to be careful when they have children, and how they look after themselves. That was the reason.

The other reason for obviously taking part is because there is no test available. They need to do more research into it. There needs to be a lot of understanding of it, because unfortunately I don’t know if – have you heard the saying about zebras?

No.

No. That doctors are – if you hear trotting, or a galloping noise, you presume it’s a horse. And doctors are always trying to rule out what’s obvious first. If a person comes in and their finger’s bleeding, they’ve cut it. They don’t go thinking oh, the skin’s split open all on its own, or something like that. And that’s where we’re called like a bit of a medical zebra. Because every now and then, the galloping noise can be a zebra, and it can be an invisible condition.

With my Ehlers-Danlos there is no test available. I find it very annoying. I can understand that they need to hold back on resources and money, but they can test for all the other types of Ehlers-Danlos. My diagnosis, I – when they diagnosed Ehlers-Danlos, they had major criteria and minor criteria. And if you have one or two major criteria you get a diagnosis. But if you have like five of the minor criteria, you can have a diagnosis. With myself with Ehlers-Danlos, I had quite a lot of minor criteria for the classical type, and criteria that matched the hypermobility type. So I was first diagnosed classical, then I saw a person who said my skin wasn’t stretchy, so diagnosed hypermobile. I’ve since then been diagnosed hypermobile but I have quite a lot of crossover with the classical. Now to me, they could test me to rule out the other forms of Ehlers-Danlos. And then we would know that it was that type more. As a, to use the test to rule it out. But it’s only allowed to be used to confirm the diagnosis. So for me, I therefore asked about is there any other way for me to have my gene, my genes tested, and have my DNA tested. And that’s where the Hundred Thousand Genome Project stepped in.

My genetics consultant [laugh]. I was speaking to him. And he said, “[Name], you don’t meet the criteria for the DNA testing because of the type of EDS that you’ve got. But we haven’t got a DNA test for it. But because of your condition, and the symptoms that you’re presenting with, it’s highly likely that you’ve got Ehlers-Danlos.” And because of these – I don’t quite fit in any one box that easily. Which I believe is the case quite a lot, with a lot of people with EDS, they don’t fit easily into these boxes. You get some families that have got their own form of EDS. But, he said to me it was an option for me. It would give me the answers I needed. I could have my parents tested, to see if it is in the family tree as well, which is what I wanted to do. And he, he explained to me that the research itself is going to enable you to be able to hold a bank that scientists and researchers, and pharmaceutical companies under certain conditions, can access that information. And how are you going to help with like the rare diseases unless you can access the information that’s there? So at that point I was quite happy to go ahead.

Heather: We don’t really know that much about the condition do we? That’s why we’sre 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’st really know what’s wrong with us. And I think the professor that did give us the diagnosis, still wasn’st a hundred percent confident herself. And I think that’s why it gets a little bit frustrating. And if it hadn’st 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’sve always said that I’sd like to help other people in the same situation, because I know what we’sve 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’sve 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.

And what do you think the potential benefits are?

Sheila: Well the potential benefits are they actually isolate one of the defects that I’ve got which is linked to mitochondrial disease. And that would almost certainly help my position from an understanding point of view. I know there’s no – there’s no treatment for mitochondrial disease, and there’s a limited amount of things you can do to treat some of the side effects. It’s possible that I could develop epilepsy, so they could treat that. But they couldn’t treat the cause of it, which is the mitochondrial. So, yeah. That would – It would help from that point of view, wouldn’t it?

Edward: Mmm. From my point of view, I’m not a scientist and will never be able to partake in that kind of research. But giving something that might help someone else is the least I can do, really.

Sheila: And it would help any – Like if he went on to have children, or if it was inadvisable to, then he could take that decision.

Edward: But for me it was more about just the – I suppose the thrill of helping out a little bit. I mean, I – as I say, I’ll never be able to do that kind of research. I’m an artist not a scientist. But it’s just nice to imagine that it might make a difference somewhere, somewhere along the line, even if it’s very small.

Sheila: Mmm. It’s completing a bigger picture, I think, sort of from my side.

Edward: Mmm.

Sheila: And if there’s other members of my family who are suspect, then we could – you know – say to them to get checked, it’d be worth it. It’s I think more for the female line particularly, where you’ve got the greater risk carried, haven’t you.

Edward: Although you can still be very unlucky and be that one guy who gets the dodgy x chromosome and then you get a double helping of whatever problem’s going on.

Sheila: Yeah.

Edward: Yes.

Ok so your participation was to help?

Well encouraged because our children are studying in higher education and my son has a master’s degree in biology and chemistry. And obviously having that sort of background and understanding the importance of research then if I could share anything or if anything was found in any tumour that was removed that would be helpful, you know, to doctors and researchers and to the overall well-being of everybody. Something could be gained from that. And also because my mother died from bowel cancer and so the chances of my brother and I having bowel cancer are significantly higher than, you know, maybe that wasn’t in the family. So if it has been found in me and it’s been dealt with I’m grateful for that. You know there could be a possibility that some early intervention in the future would save my children and possible grandchildren from, you know, further or any distress really in this field.

So that’s where sort of the reasons are in medical research

Yeah. Well it’s just a background of having that it’s the right thing to do. And as I say my mother died of bowel cancer in 1979 and medical research and cancer research has come on leaps and bounds and the sort of treatment that I received was just not available to her. And the drugs that are available but most of all the importance of like looking after future generations.

So you had decided on the spot, as it were?

Yeah. Because of [Son’s name], really. Because I thought if we’ve got a cancer thing in our family, and it doesn’t benefit you directly, but that’s not the point, is it – you know – I just thought ‘yeah, I am very interested in getting rid of this hideous monster that is cancer. Absolutely. And you know, I know that it’s very sort of contested and difficult, because of all those other avenues that you can go down, but I think there’s a massive, massive difference between disability and cancer. And you know, some other things like motor neurone disease, actually. I feel the same. And cystic fibrosis, and all that sort of thing. And if a gene that causes cystic fibrosis can be repaired, I think that’s a good thing, actually. I do. Mmm.

What benefits do you see of taking part?

No – no personal benefits for me. But I like the thought that if cancer can be cured, my having cancer can help the process of cancer being cured. So, and having felt completely absolutely unable to fix it with [Son’s name], it feels a bit – a little bit better that you know, possibly giving some samples can fix it in the long term. Really, I suppose.

What do you see as the potential benefits of taking part I mean for you your family or society in general?

I think for instance for everything. It’s the research as how we move forward with cancer. How we treat it. How, what treatment options are available. Again perhaps not, you know, there’s other ways of treating it than sort of invasive surgery maybe looking at the best ways to. I see it as protecting young people like my daughters and other young people. You know they could go through all sorts of different cancers, breast cancer is it running in the families. Is it genetic and everything. So as far as I, it’s looking at the future of how we treat cancer.

Ok. Do you see any kind of risks or pitfalls?

None whatsoever.

No?

No. I think it’s, no none whatsoever.

Ok so for you it’s all positive?

It’s all very positive, none whatsoever.

What were your hopes about taking part? Did you have any expectations or?

I think for me again it was, it made me feel happy that I was doing something for research. And again if it’s going to help perhaps me or anyone yeah I feel very, very much sort of within that feeling of, wouldn’t say sense of satisfaction but something that I needed to do, needed to be part of, very much so.

Ok. And do you feel you made the right decision?

Oh yes without a doubt and anybody else I’d recommend it to.

Why can you say something?

Because I think it’s, you can close yourself into this with cancer but sometimes it’s better to be involved. And I think for me I was, I was looking at it as a good way of moving forward, a good way of getting good results for the future. And if it, you know, if it helps me in any way or it helps I think it’s a really, definitely for me I think it’s, it’s good. You know if nothing comes out of it for me it could come out of it for generations in future.

Ok so it’s a positive.

Very positive yeah

So you were ok with the whole process?

Very much so yeah and never hesitated, never regretted it, never at all. I’m just interested to know that everything that’s going to happen with it. And it’s just interesting to see how it all. And you’re looking at things that come up and you think well actually I was part of that. And it makes you feel really good. Gives you a really good sense of satisfaction and that some good is coming out of what I did, just one little person and everybody else that’s doing it.

That is very good because I interviewed a lady last week and she said, I feel very proud about taking part.

Oh yes very much so, very proud. And it’s made my daughter, it makes people think when I’ve talked to other people about it and they said, Well actually we’d do that as well. I think that’s great because a lot of people don’t want. When they are diagnosed with something as big as, it’s a big thing and no I… There was no hesitation there and I feel, like I say again, very proud that I’ve done this.

Yeah.

And we talk about it and I think people understand it then when you explain it a little bit to – Well actually yes, you know, I would do that too.

You know, we’ve done this 1) to get an answer hopefully, but we accept we may never. And our main reason for doing it was so that no other family goes through what we have. We just hope that if they do find something at all – be it this year, be it ten years, be it fifty years in the future – that they can say ‘this is what’s going on. And another family won’t have to go what we’ve been through. I think we’re resigned to the fact we may never ever get an answer for him. But we, we kind of want to help advance medical knowledge so that other people don’t go through it.

Mmm. Yeah, so that’s one of your primary reasons for going through it?

Absolutely, absolutely.

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.

So you said something a little bit about helping other people in the future. Do you have any ideas of how that might, how that might eventually?

Julie: Yeah it could be, anybody can look at the information can’t they. I mean they can’t take it out of the rooms sort of thing but they can go in and use, use what the findings are. And it could be, you know, it could be any number of developments in medicine or, you know, the companies that are, drugs companies or anything like that in the future just to be a part of that and have something, you know, just to leave a bit of a legacy really that might be useful to somebody at some point, you know, is…

Mark: I mean more specifically with [Daughter]’s condition if they discover a gene mutation in either of us or both of us for that matter that can be isolated to the dilated cardiomyopathy condition that [Daughter] has as opposed to a hydrotropic as opposed to something else that is distinctive enough in the sequencing then that would clearly provide for a marker for testing and advance detection of the condition in other people of course.

Ok.

Mark: So you know that’s how it may manifest itself in one way. And if they’ve got, you know, statistically significant occurrences of that with, through testing of other people with a similar condition then you know that, that would obviously give a great, great advantage in the future hopefully for others. Or indeed you can think of it in another, in a negative way that they’ll screen embryos to you know, not pregnate them kind of thing so that you get it out of the gene pool.

*Text altered for the website.

So really, your reason for taking part was sort of to help other people, to –

Oh, indeed.

Yeah.

Indeed, yes. I mean, all of us, I’m sure, that have suffered one form of cancer or another, would want to help anyone.

Mmm.

Going through it. Because it is a very traumatic time. Both for yourself, being told the news. And also for your loved ones.

Mmm.

Because they feel, they feel so helpless. And I know that we have to go through – I mean, there’s some people that choose not to take the treatment, but I’ve always been advised by my consultants, and I’ve always taken the treatments that they’ve offered me. So therefore, I have to be strong. I have to do as they say. And I have no choice. But the choice I do have, is to help others that are experiencing, or about to experience, similar problems that I’ve gone through.

Mmm. Yeah.

And, that’s what we’re here for. To help. In any way.

Yeah, it’s a really noble thing that you’re doing.

Yeah. I don’t know that it’s noble. I think it’s – Other people were there to help me, when I needed them. So it’s only fair that [wipes tears] I continue that line of, helping others. Because there’s so many people. And until you go for treatment, you just do not realise how many people are caught up with cancer of some form. Be they small, middle-aged, old-aged, you know? It has no boundaries whatsoever. And it is – it just needs to be conquered.

Mmm.

And only by research will this happen. You know?

Most people with a rare disease have had several blood tests. That’s really what I see it as. And I think because you have the option of being able to be informed about whether they find anything sort of not so great, you could opt out of that. So all you’ve done is just give away a little bit of blood which you would give anyway for a blood test. But on the other side, so if you’re maybe – if you’re more like me, I really wanted to know, is there anything else that I need to think about, or? Yeah. Is it going to contribute to how I’m being diagnosed? So, I think it’s something to just think positively about. Yeah.