Was it quite a short appointment then? Or, you went into the room and then

It was about an hour, all in all. But I think most of that actually was battling [laugh] to take the blood from us. Yeah, it was quite a difficult and also things like play specialists would have been so helpful for us.

Because one of us was trying to battle with our son, and keep him amused.

Yeah.

Because obviously he doesn’t understand what’s going on, he doesn’t really like meetings at all. And while we could bring a toy in out of the waiting room, just to of had an understanding that there are children coming in, and to put toys they can play with, and somebody to keep them occupied so you can both understand what’s going on. But actually it meant that one of us was constantly entertaining [our son], and the other one was trying to take in what was being said. And that again would have been helpful, to allow us both to focus on what was going on.

Yeah, so on reflection it sounds like there’s a number of things that could’ve actually been – maybe quite simple things that could’ve been –

Absolutely. It wouldn’t have been you know, hugely expensive at all, but perhaps for the younger children that are involved in the study would have made a real difference to our experience of it. Mmm.

I would say I think they could learn a lot of lessons from the transplant service actually. That every gift they receive is treated exactly as that, as a gift. And you know there is thanks given, and they are made to be the absolute centre of what is going on. And I think Genomics England could learn a huge amount from the way they approach it, that every person who volunteers for this study is giving you a gift. That they are giving you access to their personal data. And they are allowing you to build medical knowledge forward. So I think they need to be respectful of that decision that people have made. I think they need to make sure that we’re being fed back the information on what’s going to happen. And also kept informed. And just things made as easy as possible for people to become involved. Because it is hugely stressful. It’s a really personal decision that people have to make, and I think they should – yeah, just treat people as individuals.

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 think the other thing perhaps is obviously regarding siblings, there’s very little thoughts on that at the moment. And we kind of said, “Look we wouldn’t want her involved, unless anything was found.” And they’ve said. “Oh, we wouldn’t actually invite her at this point.” And I think there’s a need perhaps for recognition of the wider family. That actually the decisions we make may affect other, other members of the family. And I think we almost thought there might be some kind of genetic counselling go on. Which actually we’ve never had. So while, while I understand the implications, perhaps my husband didn’t quite so much. And I think that’s something that might help, just to have somebody who understands this stuff sit down with a family, and say, “Look, this is what’s going to go on. Actually if we find something it may impact on others, and are you ready for that discussion to be had?” And I think that would be really helpful. Mmm. Mmm.

Yes absolutely. Yeah, that would be a good suggestion, the sort of genetic counselling, or

Yeah, which we know there is there for conditions that they know about. But actually for those who have something that perhaps they don’t know about, just to have somebody sit you down and say, “Look are you ready for the can of worms this may open?” And just to make sure that, yeah the decisions you’re making are the right one. And I know it’s a personal choice but I think you’ve got to recognise the fact that people have to be fairly strong, to go through this kind of thing. And yeah, to make sure that they have a support network in place. We have a very good support network, but we need to make sure that we’re providing that support for people. Mmm.

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 think the other thing perhaps is obviously regarding siblings, there’s very little thoughts on that at the moment. And we kind of said, “Look we wouldn’t want her involved, unless anything was found.” And they’ve said. “Oh, we wouldn’t actually invite her at this point.” And I think there’s a need perhaps for recognition of the wider family. That actually the decisions we make may affect other members of the family. And I think we almost thought there might be some kind of genetic counselling go on. Which actually we’ve never had. So while, while I understand the implications, perhaps my husband didn’t quite so much. And I think that’s something that might help, just to have somebody who understands this stuff sit down with a family, and say, “Look, this is what’s going to go on. Actually if we find something it may impact on others, and are you ready for that discussion to be had?” And I think that would be really helpful. Mmm. Mmm.

Yes absolutely. Yeah, that would be a good suggestion, the sort of genetic counselling, or?

Yeah, which we know there is there for conditions that they know about. But actually for those who have something that perhaps they don’t know about, just to have somebody sit you down and say, “Look are you ready for the can of worms this may open?” And just to make sure that, yeah the decisions you’re making are the right one. And I know it’s a personal choice but I think you’ve got to recognise the fact that people have to be fairly strong, to go through this kind of thing. And yeah, to make sure that they have a support network in place. We have a very good support network, but we need to make sure that we’re providing that support for people. Mmm.

Yeah, absolutely. And you mentioned there about siblings, and your decision that your daughter didn’t didn’t take part.

Mmm. Mmm.

Can you tell me a little bit more about that?

I think we were just conscious of the fact that if anything was found with our son, and it was found to come from either parent, then we’d probably have to look at the fact that we may have to look at our daughter. Who actually currently is doing really well, and there’s there’s no concerns with her. But then we’ve got the whole decision of if they found something do we have her tested? Do we – when she is actually showing no symptoms of anything – put her through that? Is there a chance she can genetically pass something on? And that was a whole conversation we had internally I think, that wasn’t really picked up on at all within the study. And it would’ve been really nice to chat that through with somebody who understood kind of the genetics of it all. That would’ve been really helpful for us.

It was, yeah. No I think it was quite easy for me to make, but I was, I think very conscious of the fact it was a family decision that we made. Because I tend to make the vast majority of the medical decisions. Because of my background, but we felt it was something we both had to be really comfortable with. We’re both from very different cultural backgrounds. In that my husband is Christian, and very strongly Christian. And I’m not at all.

Mmm.

So actually we thought it was really important for us that he was very comfortable with the decision that we made. And which actually he is. And we had a kind of think about the future things. Because when you are invited to take part, they let you know that they are going to be testing for other conditions, and do you want to know about those conditions? And you think well, I think that’s an easier decision to make for ourselves, but how do we make that decision for our son?

Mmm.

And I think that’s – that was something we had quite a lengthy chat about, whether we wanted to know. Actually, whether they did find anything else out and would it change how our life is, at all? And I think there is that, that fear that if they do find something, what information are you going to get from that? So.

Yes, how did you feel about that? Sort of potentially finding out? What was the discussion like, in terms of – about that?

I think it was difficult, because we – I think my big fear, and I assume my husband, but he’s a typical man and he doesn’t speak very much [laugh]. Was that what if they found something that was life-limiting? I think that for us was the hard one to get our heads around.

Mmm.

We could kind of cope with him having a condition, but I think for us it was well if they found there was something that would give us a limit. A time limit on what he could accomplish or a limit on what he could achieve.

Mmm.

But we felt that we probably need to know, so we could prepare ourselves if that was the case. Because at the moment, as I’ve said, we kind of – we live one day to the next, and we have stability at home and we’re not in hospital. But we don’t know what the future holds for him. We don’t know if he’ll live independently. We have no idea whether he will ever kind of be able to live without our support at all. And to have an answer to that would be great. Mmm.

Weren’t really sure of how many blood samples they were going to be taking. And actually it’s a lot [laugh]. So you actually take about six or seven bottles of blood. Which is fine from an adult, and my husband unfortunately did pass out while he was having his taken [laugh]. Because he just wasn’t expecting the volume I think that they were going to take. But it was very, very difficult to get blood out of my son.

Mmm.

Who is kind of known to have venous issues as well. So I think again, just having that understanding of a family, that actually you’re likely to run into problems here. And it meant that we had – end up having to hold him down for about forty to fifty minutes, to get this blood. Because it was so important that we got it.

Mmm.

But you know, we just thought that with a little bit of forward planning that might have been avoided.

How did you sort of feel afterwards or?

I think we were exhausted. Absolutely exhausted.

Yeah.

Physically, from kind of scrapping with our son. But also mentally, strangely – I think we were very, very tired afterwards. And the fact it’s such a long way for us. We’re an hour and a half away from our genetics centre. So to have had the ability to do it locally would have been hugely helpful. And we appreciate you know, it’s very specialised, but actually we didn’t need to be in [place] for this at all. So perhaps you know, travelling to meet patients and their families would be – again, a small thing perhaps – but would’ve made a real difference to us. But it meant that we’d had an hour and a half journey. Then obviously this really stressful appointment, and then an hour and a half back. Makes a very long day. A very long day. Yeah.

I think a difficult one for us, and I think particularly for my husband, was whether we wanted to know whether they found anything with us at all. Because they look for other medical conditions. So chances of bowel cancer and breast cancer, and we thought do we want to know? And I was very, very clear cut on that, that I would rather know. I believe that if I know about something I can fight that. My husband much less so. And he kind of said, “Well I wouldn’t have known originally, so do I want to know now?” And that was something I think he struggled with for quite a while, internally. And as I say, he’s a man so he doesn’t talk much. But I think it’s something he, he considered for a long time. And I don’t actually know the decision he made. We made the decision individually for ourselves on that. And what we decided was best for us, but I think that was a, a hard choice – did you want to know whether you’re going to have a condition in the future? Or more at risk of developing a condition in the future? And that’s a tricky one.

Yeah how do you feel about that? Sort of if you were to find out something like that, in addition to?

Mmm, and two others. As I said, I think I’d rather know. Because then I can take preventative, possibly. So if it was something like bowel, you know, I know what signs and symptoms to be aware of. If it was breast cancer genes, I might take you know, preventative surgery etc. But then again you think well some of them that they may tell you about you may never. But then, I know they certainly told us they would only tell us about things that can be treated at this point. That was one of the questions we asked.

It wasn’t a huge amount of information. I think it was about two or three pages. Certainly for us as adults to read.

Yeah.

And as I say, we wanted to find out a little bit more. So we Googled the study. But there wasn’t actually a huge amount on it. There’s a lot of bits on the internet about kind of the study, and when it’s going to report and what it’s going to do. But actually there was very little first-hand evidence of people who’ve been through the study themselves, about – you know – actually what was involved, what blood samples would be taken, could you do anything else with them? That information just wasn’t there for us at the time.

So you looked on mainly – was it Genomics England, that was mainly their website, and did you look at any of the –

Yeah that was the main places. I mean obviously there are bits on internet forums for special needs children, and bits. But yeah, I think you have to be quite careful about what information you pick, because obviously you can’t tell the validity of anything like that. So we have to be – we have to be careful. And certainly I like to make sure the evidence I’m reading is good quality evidence. And yeah, there was some on the genomics, but almost that was little bit too much for us. There was nothing for people going through it at all. That that information just wasn’t there for us.

Yes, so you would have liked to see more of that, yeah.

Mmm, definitely. Mmm.

So we were invited to meet the team over at [hospital]. Which is our local genetics centre. And I think we were both quite surprised actually, by what we encountered. I think we thought it was you know, it were run by Genomics England and – I don’t know, I think we were expecting shiny and new. And it really wasn’t at all, actually [laughing]. We, we met them in our local outpatients department of our centre at [place]. And there was a little room that we went into with two research nurses. Who kind of talked us through the information again. But I think we were thinking there would be a lot more information. Because certainly from the original information that we got, it was – this would be your opportunity to ask questions, and you will be given more information. And actually, we found that we weren’t, really. There wasn’t a great deal of information that we hadn’t already had. Yeah, very difficult.

How do you feel about – you mentioned earlier about the sort of website not really having that much information. Do you think then there should be much more sort of general knowledge, or?

I do. I do. And even if it was a daft thing like a – if you’ve been invited to take part, a secure part of the website you could go onto, to discuss, you know with people who’ve kind of been through it, “Look, what did you think about this? Did you get this question answered? How long does the appointment take?” That would be – again – such a useful thing to have. And it certainly can be done, because there are secure forums [laugh] all over the internet. And actually you could use that as a form of feedback for Genomics England, to kind of say, ‘actually you know, people are bringing up this same issue, let’s look at that. So that would be hugely inform, in – you know, for us the ability to chat to Genomics England, even if just, you know, social media, “Look I’ve got this question; can you give us an answer back?” Would be again really, really helpful.

Yeah.

But I think at the website at the moment is very fact-driven. It’s not massively interactive at this point. Which I think a lot more could be done with. Mmm.

How did you sort of feel afterwards or?

I think we were exhausted. Absolutely exhausted.

Yeah.

Physically, from kind of scrapping with our son. But also mentally, strangely – I think we were very, very tired afterwards. And the fact it’s such a long way for us. We’re an hour and a half away from our genetics centre. So to have had the ability to do it locally would have been hugely helpful. And we appreciate you know, it’s very specialised, but actually we didn’t need to be in [place] for this at all. So perhaps you know, travelling to meet patients and their families would be – again, a small thing perhaps – but would’ve made a real difference to us. But it meant that we’d had an hour and a half journey. Then obviously this really stressful appointment, and then an hour and a half back. Makes a very long day. A very long day. Yeah.

I think we’re glad we’re involved. Very much so. I think we feel part of something a bit bigger. Which yeah, is an interesting place to be, I think. On the whole, I would say it’s been a positive experience. We do feel like we’re doing something. Which I think – the ability to have some control over what’s going on is hugely important. Particularly with families with children with no diagnosis or adults with no diagnosis, the ability to kind of feel like you’re doing something, is really important. I think there are lessons that the hospitals, geneticists and Genomics England can learn, and improve going forward for us all. Negatives I think are more logistical at this point. About kind of ironing out the system, making sure the information it out there for us all. Because I think there are parents with a thirst for that information, and it’s just not there at this point. But yeah, I think on the whole we would do it again.

Did you know much about the Hundred Thousand Genomes Project at that time? Had you ever?

No I think I’d read little bits about it in the media. Obviously because of my background, I tend to read more of the medical side of things [laugh], and I was aware of it. But it’s certainly not something I come across in my day to day work at all. My husband had certainly never heard of it at all. And most of the family have never heard of it at all. So we kind of thought it was interesting. We didn’t actually meet out geneticist face to face, she popped it in a letter for us. Which I think in some ways is good, because it gives you time to consider that, before actually you have to give a face to face answer. And it gave us time to do that research, to actually kind of say do we want to open this can of worms?’ So to speak.

I mean they were happy to discuss any questions that we had. So we discussed a little bit about the commercial aspects of the study. And who would have access to the information, and what safeguards were in place. And certainly we wanted to know – particularly if it went outside the UK – we were very interested in how that information would go, and what kind of safeguards are in place once you leave the UK and our laws here. And they were very good at answering questions for us. They seemed very knowledgeable about the study.

But I think we were, we were really – we don’t mind companies having access to the data if it will help at all. But we just wanted to be sure that it was very, very secure, that nobody could trace back who we were. And also that it wouldn’t be used – I think certainly my big concern was that it wouldn’t be used to ostracise or, you know – insurance datas and making – if you’d ever tested for this that or the other. That was our big concern. Actually are we going to have to say we’ve been involved in the study? And is that going to impact on insurance in the future? That that was one of our big questions. Because it’s a concern. We’ve all watched the sci-fi movies and Gattaca and the like, and you think actually are we going to start making decisions based on people’s DNA code? So that was one of our big concerns, I think.

Yes and how do you feel they addressed those concerns? What did they sort of say about that?

They, they tried to reassure us I think. And tell us that you know – there certainly is nothing like that in the pipeline, there’s – they’re not allowed to use that insurance. We don’t have to say that we’ve been involved in the study at all.