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.

So do you have any messages or anything you want to tell people who are considering taking part and are not sure yet?

Well I think it’s personal choice at the end of the day but I certainly think it’s, it’s well worth doing. You know, at the end of the day it could potentially save my future child from having it, having the same disease as me. So that’s really, you know, it’s really important but like I say it is personal choice and it’s just weigh it all up.

Just like I said in the email really, even if it doesn’t change anything for us, what about later on? Like I say, to be honest, I don’t – I have been on the net and had a look, and there are other families that have found themselves in a position and they’ve proven that there is something, and it has been rare. But nobody’s listened. And they’ve gone through years and years. I just don’t want that to continue. If this really is an answer, even if it takes ten years now because it’s in the beginning, what if in fifteen years it doesn’t, it takes a month? And you could potentially – you could potentially know a treatment, a successful treatment. Or one that’d at least keep it at bay. It’d identify what will and won’t work. Not just the disease itself. Or so they believe that that’ll be in part of it in the end, that they’ll be able to tell what drugs will and won’t work.

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.

Sheila: If you’re not afraid of needles, go for it. Basically. Because it’s literally just donating a blood sample like you would for any hospital test. It’s just that there’s a few more phials to fill. If you can cope with that, which is not really that desperate.

Edward: It’s not more invasive than a blood test, really.

Sheila: No. If you can cope with that, then there’s really nothing to lose. That’s how I see it.

When she started to take the blood – did she show you how much she was going to take, in terms of the number of phials?

Edward: Yeah.

Sheila: We saw the tray [laughing].

Edward: I have to admit, I didn’t realise that it was going to be five phials each. I assumed that that was going to be between us, and maybe one spare. I was naive.

But it was alright?

Edward: Yes, it was – it was okay.

Sheila: He manned up [laughing].

Edward: There was no screaming, I promise.

I think they should be honest. I think the more information that we have about this – how are you meant to learn about something? How, how’s the doctor meant to learn about something? When I sit there and I, I go through five years waiting to get actually diagnosed with the condition, and for it to be taken actually seriously and understood, because they actually have a letter saying “Look, it causes this, it causes that. This is why she’s having these problems.” that people sit up and they actually listen. But you then have five years of having, then being diagnosed with everything that had been told “Oh, it’s just this and it’s just that.” and they turn round to me and say “No, it’s actually this, which is quite seriously going to affect you long-term, and cause your whole lifestyle to, to stop.” But they then turn round and say there’s nothing we can do. It’s so upsetting and heart-breaking.

And you get – some doctors will turn round and say that “Oh, you seem a bit anxious or stressed.” Try popping a joint out of place and injuring yourself once a month, once a week. Put on top of that going down, you know, a hundred and fifty mile, two hundred mile journeys – hundred mile journeys – regular basis. Fourteen appointments in a month, I’ve done. You know? All with people just sitting there saying there’s nothing we can do. So it’s, it’s – it’s a hard route to go down. But for anybody that has a condition, it – it would enable these doctors to not be sat there and saying “Look, there’s nothing we can do.” They could turn round and they could say “Actually, you know, we are trying to do things about it.” We could – we – you know – even if you had research projects that people could take place in. Rather than just having, going down all of that route. And it’s not necessarily ploughing all your hopes into it, but you – because of all the testing and the way that you’re spoken to, and they understand the diagnosis – you know, they understand when you walk through the door what your symptoms are. It’s this [sigh of relief], you know? Finally, someone gets what I’m saying.

But then you go through and have the tests. And then you have the door shut on you. “Bye-bye, can’t do anything.” Anybody out there that would consider doing it, that gives the doctors something in the future to be able to say, “Yes, there’s this for you.” But if nobody helps them, they’re not going to be able to do that to help people.

I think for Genomics England I think we’ve talked about a number of things around. It’s much easier to get people on board and we’ve discussed this and I’ve thought about it during the discussions as opposed to this being sort of something which I’d thought about before but I think they. You know, what we’ve uncovered really is that, that the, if you’ve had a long term condition where there is a potential genetic cure then you’re going to be encouraged to go on to it. That is an easy sell if you like. I think if you’ve got a level of trust with your, the people who are treating or monitoring your condition then I think that will help people get on board. I think the availability of knowledge for the, that the patient has about research will give people a lot of comfort that this is something. This is another piece of research. This isn’t something new and brand new and shiny that’s, you know. And again I would imagine that would be a good way of. If for those sorts of candidates I would have thought they’d be pretty keen to, to get on the project.

I think for the, for individuals I think. I don’t think there’s anything to be frightened of. I think provided I guess my view would be that you’re going to find out something about your individual condition which can only be a good thing. It would be up to the individual to decide whether they want to know about something which is the secondary, you know, the potential secondary result. That’s a different ball game and I think that’s something which people will be. There will be more divergent views about how, how people want to, to manage that. But from me personally I would rather, I’d rather know than not.

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

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

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

I think you have to research the decision. It has to be the right decision for you and your family. Because it’s one you’re going to have to live with realistically for the rest of your life. And yes, you can withdraw at any time, we know we can do that. But we felt it was a decision we wanted to make once. To understand you may never get an answer, but that to understand that I think it’s a good thing to do, and that we’re only going to make life easier for those who come after us.

I would just say before you take part in anything read all the information, ask the questions because you have the opportunities to ask those questions during the consent interview. So read the information before you go so you have those questions because you have so many questions in your head when you are first diagnosed with something like cancer that it can be very easily lost. And, you know, you need to go with those questions in your head. Write them down if you want to remember them because when you are sitting with somebody often your head is somewhere else. And you are not concentrating on the one thing that you are doing at that moment. So just write the questions down before you go so you’ve got them and, and tick them off when you’ve asked them. And make sure that you get all the information you want before you sign the consent form because people will take time to speak to you until you are happy that, and they are happy that you understand what you are signing. And I think that’s really important as well. It’s having that trust with that healthcare professional that they will take that time.

I think probably from talking to you, they probably ought to maybe think about it a bit more, in a bit more of a nuanced way than I did [laughing]. And, you know, maybe it’s quite a big, serious thing, I suppose. Yeah. I think it is quite – there’s more – Because I was so – I only had my cancer head on, I was very focused on that. And if I – You know, and I’m part of the project because of that experience. But I suppose like my friend, who’s got three children with Fragile X syndrome – I would say if she was approached, she’d tell them to fuck off. Honestly. She would. And I would as well, if I was her. So, you know, it’s – it’s not all the same, is what I’m saying.