Stuart

Age at interview: 52

Age at diagnosis: 37

Brief Outline:

Stuart was diagnosed with Retinitis Pigmentosa, a degenerative eye condition, in 2001. He is very interested in medical research, as his two sons also have a genetic condition. He was happy to take part in the 100,000 Genomes Project because he trusts his consultant and hopes that the project will help to develop further knowledge and treatment options for his condition.

Background:

Stuart works as a project manager. He is married and has two sons who are aged 18 and 20. He is white British.

More about me...

Stuart was diagnosed with Retinitis Pigmentosa (RP) in 2001. RP is an inherited condition which affects the eyesight and cannot be cured. Around the same time, his two sons were diagnosed with Primary Ciliary Dyskinesia (PCD), although it is not yet known if the two conditions are linked. Because Stuart believes that gene therapy could one day provide a cure for conditions such as RP and PCD, he is very interested in medical research, and follows new developments on the internet and through his support group. 

Stuart was invited to participate in the 100,000 Genomes Project by his consultant. His consultant explained the project after a check-up. Stuart was keen to participate in the project as he hoped it could tell him more about his condition, and help to develop tailored treatments. Stuart also thinks investing in research and treatments around blindness has economic benefits as “people may become dependent if they can’t see properly”. This is important to him as he has concerns about the funding and future of the NHS.

Stuart had to fill in some paperwork before he joined the project. He was comfortable with the information he was given, although he says there was “a lot if it”. He suggests that shortening the consent form could help some people who are not so confident with reading this kind of information. Stuart’s parents were also asked to be a part of the project, and both he and his parents gave blood samples. Stuart found this experience “fine” as he has given blood samples before.

Stuart mentioned that some people might worry about how the information from genome sequencing may be used. He thinks that some people may be concerned with how their data is stored, and how it can be linked back to them. Stuart thinks lots of people might have concerns about genomic results affecting insurance. He is concerned that data could be used by others in the future for things it was not intended for. However, Stuart was willing to take this risk and be involved in the project. His knowledge of medical research and trust in his consultant reassured him that taking part in the research was “the right thing”. As his hospital supported the 100,000 Genomes Project, it gave Stuart confidence that he should get involved.

Stuart has been given some information about the project since he donated his sample. Although this is not very frequent, he knows that it is a long term project so thinks that this is ok. Stuart has not yet received any results from the project. However, he feels that Genomics England have “managed our expectations” around getting feedback. Stuart understands that he might find out information on other conditions he could develop. Although this is “a bit scary”, Stuart says he would rather know the risks he faces as it might make it easier to treat the condition. He believes that genome sequencing may reveal the cause of his condition. However, because his condition is very slow to progress, he isn’t so worried about how long this will take. He is also interested to find out how common his particular condition is, as this may affect what treatments are developed. He hopes that eventually a tailored treatment will become available. Even if treatments are not developed in time to help him personally, Stuart is still glad to have helped others in the future through being a part of the 100,000 Genomes Project. 

Stuart was invited to take part in the pilot study by his doctor at the eye hospital.

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.

Stuart and his family have long been aware of genetic research through their involvement in a Primary Ciliary Dyskinesia support group. His family had been involved in other genetic research in the past.

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.

Stuart and his sons have a rare genetic condition. He knows that treatment for their condition is likely to be gene therapy so they have a very strong interest in genetic medical research.

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.

The hospital Stuart went to for his eye tests is at the forefront of research so when they asked him to participate in research related to his condition it was an easy decision to make.

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.

Stuart has a degenerative eye condition, Retinitis Pigmentosa, and hopes the project will identify the “faulty gene” that causes it.

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.

Stuart was told he was being moved from the pilot study to the main study.

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. 

Stuart talks about the things that might make people more likely to join the project. He thinks finding out something about your individual condition can only be a good thing.

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.