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.

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.

I remember Heather, the day she got it, she forwarded the email to me and says “Dad, what do you think?” And at first I was sceptically thinking is it junk mail, is it?’s

Yeah.

Because it’s out of the blue. But the more we looked at it, did a quick few Google searches to make sure everything was genuine. It was genuine, obviously it was genuine. And we just sat down, and I said “Well, what have we got to lose?”

Mmm.

The best thing that could come out of it, you could have a wonder treatment that could happen. I know that’s highly unlikely. But at least it’s there to help further genetic research. It’s there to help you and the future generations. Yeah.

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.