But no I think we, we’re being written to not very often but that’s fine. I know this is a long term project. And I think just periodically being kept up-to-date with what, how, how is the, what the project is going. I think the, I think the last communication we had was that it was moving from pilot into a main project. And I had a sort of, we’ll assume that you’re still ok to carry on unless you tell us different type of letter which again was, was fine. So I think that’s the last communication we had which, I can’t remember how long ago that was. Might have been six or nine months ago, not sure.

Ok so when, when you were initially approached about the project and you understood it would be a long term project.

Yeah.

Did you have? What were your expectations in terms of getting results back in terms of time frame and also what the, what you hoped the results would be able to tell you?

Ok. Again we know it’s a long term thing. The, so and I guess our, my attitude is affected by the fact that RP there is no cure but it’s a degenerative condition but it’s a very, very, very slow degeneration. So I’ve got years and years of useful sight left. So therefore I’m not sort of, you know whilst I want to, the cells are dying in my eyes all the time but and you want to keep as much vision as possible if, if the answer is they find a condition that stops it. However, I know that, you know, I’ve got time if you like for. I would expect in terms of what I expect is they’ll come back with a, a full sequence of the DNA that identifies the faulty gene that is causing my specific condition.

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.

A likely cure for PCD is genetic then we’ve known about what’s been going on in the worlds of genetic research all the time. So I think we were aware of it. So I can’t exactly remember. So it wasn’t a surprise when they mentioned it at [Eye hospital] because RP whilst it’s in Visual impairment is actually quite common. I think it’s the second most common form of visual impairment. It is still in the scheme of things quite a rare disease and therefore it qualified to go on to the Pilot. And I think provided they had enough people on the pilot then that would be taken forward into the main project. So I think we were aware of it. Because of with, you know, with the boys and myself the likely cure is genetic then obviously we take a very firm interest. So having been approached about, Would you like, would like to go on the study?’ The answer is, Definitely. And my parents will be, they were just as supportive. And our sons prior to that have already had blood taken to be sequenced as part of the PCD research as well. So I wasn’t the first in our family to be. That’s not connected with it, the separate exercise but it’s, I wasn’t the first one in our family to get involved in something like this.

Yeah. Well for a start there are probably because of the whole genetic area we’re relatively knowledgeable about it

Yeah.

Because I’d say from, you know, from being, you know a bit, I’d been diagnosed with the family conditions of PCD and RP we’ve known about for 15 years so, you know. So at the point at which you get diagnosed with something then inevitably everyone does a ton of research. So you’re speaking to the medical profession and you’re, and you’re Googling it and coming up with all sorts of horrible answers which you have to ignore before [chuckle]. Doctors hate you Googling stuff but you know, and then you go off in all sorts of different journeys and find stuff out. Because both conditions that as I said, the likely treatments will be gene therapy based therefore you end up looking to see what’s going on in the, in the world of gene medical research. The other thing you also do is with. So I’m a member of the body called, [Body name] which is the support group for that. So with newsletters, website, emails, Facebook site, which is amazing what people share on that, you know, in a good way. You’re constantly finding out what’s going on in the latest bit of medical research specifically for your condition, you know so.

Ok so that was something that was important in your decision to take part, your relationship with the consultant?

Yeah, yeah. Cos I mean so having been to the clinics for fifteen years. Well there’s two things. I went there once a year for. I go there once a year for the medical side of things but I also, also going there I chose to go there for my DVLA Visual Field Tests because they know how to do them properly whereas often you get sent to other places where they don’t. So I had a sort of a. I was probably there, you know, more than your average RP patient or more that your average RP patient who goes there once a year. If you see what I mean. So there was a level of sort of, you know, trust of the whole organisation. For fifteen years I know that they’ve been at the forefront of most of or quite a lot of the research anyway. So for them to ask me to do something which is related to research connected to my condition for [Eye hospital] is a bit of a no brainer really.

What were your expectations in terms of getting results back in terms of time frame and also what the, what you hoped the results would be able to tell you?

Ok. Again [sigh] we know it’s a long term thing. The, so and I guess our, my attitude is affected by the fact that RP there is no cure but it’s a degenerative condition but it’s a very, very, very slow degeneration. So I’ve got years and years of useful sight left. So therefore I’m not sort of, you know whilst I want to, the cells are dying in my eyes all the time but and you want to keep as much vision as possible if, if the answer is they find a condition that stops it. However, I know that, you know, I’ve got time if you like for. I would expect in terms of what I expect is they’ll come back with a, a full sequence of the DNA that identifies the faulty gene that is causing my specific condition.

Ok so when they have that full sequence what are your hopes and expectations for what they will do with that?

Well I expect they’d let me know but I think from and then it’s a link back to [Eye hospital] again where [Eye hospital] will. Because I think they’ve identified a number of genes. They may not have identified all of the genes that are defective that cause RP. And I think once we have established exactly what the issue is then hopefully in the future treatments evolve and those treatments will be likely, I think, to be specific to particular genes if you like. You know, so a condition will be established for one of these multi, you know, one of these multitude of conditions and you will be identified as a potential patient from what your, you know, what your genes are like and, you know, which gene is faulty.

More like a tailor-made treatment?

Well it not, they. So a, a faulty gene will cause 10,000 people to have a particular condition. So when they find a treatment it will be a case of fall back condition, bang, you know, we can do that. But in order for you to be definitely having that particular variant of RP then that’s something which will be identified from what the problem is you’ve got with your , with your genes if that makes sense.

Yes. So

So it’s not, it’s not personal to me, it’s personal, it’s sort of, it’s specific to the condition.

I’ve been a patient at [Eye hospital] for 15 years. I’m just having annual check-ups cos there’s no treatment for the condition. So it’s just a, basically visual field tests for driving licence purposes which over the… that gives them a proper indicator of what your vision is like but most important thing is you’ve got some fairly clever examinations around the retina so the; like the thickness of the retina, what’s going on the various different layers within the retina. So that’s the medical side of things.
I think it was about a year ago that they approached me with [ah], about whether I would want to be involved in the 100,000 Genomes Project.

So they approached you initially?

Yes, yeah.

Who was that? Was that your consultant there?

Yes.

The one that you regularly see?

Yes so it’s Professor X at [Eye hospital] who runs the clinic and then he has a number of I think he has a couple of consultants and registrars but I think. I can’t remember exactly who it was who approached but it was as, within the clinic I go to once a year. I think that was the point they’re identifying people to go onto the, onto the pilot.

Ok so then what happened after you’d initially you’d been approached? Or when, xxx to think about the approach itself?’

It was in the clinic. It was a case of- So we’d go through the clinic process all the tests, all that sort of stuff. Have a chat about that. They said, Ok’, you know. Would you like to be involved?’ Yes. The consultant gave me some background information. Gave me the paperwork. The paperwork was quite, there’s a lot of it.