Helen Campbell has recently finished studying for her MSc in Genetic and Genomic Counselling at Cardiff University School of Medicine, and works as an Eye Care Liaison Officer (ECLO) for RNIB.
Prior to that, she worked in the charity sector for eight years, specialising in impact measurement and project evaluation, and she also holds a BA in Natural Sciences.
As part of her Masters degree in Genetic and Genomic Counselling, Helen collaborated with Aniridia Network and interviewed some of our members, discussing the psychosocial impact of deteriorating vision in those with aniridia. She also explored the similarities and differences between those with sporadic and familial aniridia.
Helen presented the results of her study at our online conference on 27 July 2024. You can see the video of her talk and the transcript below.
Transcript
[Tierney] Ok, so moving on to our next speaker, we will have Helen, and she’s going to tell us a little bit about her Masters project. So I’m sure we’re very intrigued to hear about that.
So I will pass you all on to Helen, and I’m looking forward to it.
[Helen] Great, thank you, Tierney. So hello everyone, and thanks very much for having me today. It’s really great to be here.
So first a little bit about me. My name is Helen Campbell, and I’m just finishing up my final year in doing an MSc at Cardiff University in genetic and genomic counselling.
And I also work part time for the RNIB as an Eye Care Liaison Officer, or an ECLO, in an ophthalmology department in Chester.
But today I’m very much speaking to you with my MSc hat on, and talking to you about my final year dissertation, which is a piece of research that I’ve done in partnership with Aniridia Network over the last year or so as part of my MSc.
So this next slide shows an outline of my presentation.
So I’ll first be telling you a bit about the research topic that I’m looking into, then I’ll be talking to you about the methodology that I used. The majority of the presentation will be about my key findings, and then finally a bit of a summary and some recommendations as well.
So the research topic that I chose, with some help from the trustees of Aniridia Network in the formulation of it, is “What is the psychosocial impact of further sight loss in adulthood in people with sporadic and familial cases of aniridia?”
So I just wanted to break that down a little bit. So what is the psychosocial impact?
Psychosocial is a word that’s basically made up of psychological, so thinking about things like emotions and mental health and experiences.
And then also the social at the end. So things like relationships, employment, social life, family and things like that.
And then, yeah, one of the things I was particularly interested in was comparing the experiences of people with sporadic and familial aniridia to see if there was any difference.
So people with sporadic aniridia, it’s the first time in the family that aniridia has cropped up and they haven’t inherited it from a parent, whereas familial aniridia is when someone has a parent with the condition and they’ve inherited it from them.
So the methodology that I used. I recruited with the kind health of the Aniridia Network using social media and their newsletter channels, Facebook groups and things like that. And then consent was taken via an online consent form.
And then after that, I corresponded with the individual and we set up an interview via Zoom, which was recorded and was one to one. The average length of the interview was 57 minutes, so quite a lot of time to get into lots of detail.
And then after that, I transcribed those interviews and applied a thematic analysis approach to it, which is basically having a look at the transcripts, picking out different codes and then using those to gather different themes up, to see what the themes were of all the data that I’d collected.
So the next few slides have some information about the demographics of the participants that ultimately took part.
So I had 13 participants in general. And on the left hand side of the slide, there’s a chart that shows the gender of the participants. So I had eight female participants and five male participants.
And then on the right hand side, there’s the type of aniridia that the participants had. So seven participants had sporadic aniridia and six participants had familial aniridia.
So I was quite happy with that spread, actually. That was one of the concerns, that everyone would have one and fewer participants had the other. But it was quite a nice balance in that sense.
And then the next slide shows the age category of the 13 participants. So there were eight who were aged 40 to 59, three who were aged 25 to 39, and two who were aged 60 to 79.
So I didn’t recruit anyone who was 24 and under or 80 and over. So slightly missing the experiences of those two age groups. But other than that, again, a relatively good spread, really.
So after analysing all of the interviews, I came up with three key themes that related to the psychosocial impacts of deteriorating vision directly.
And these were “constant adaptation”, “anxiety” and “a changing relationship with the outside world”. And then the final key theme was “support” and that related to how individuals coped with their changing sight.
So each of these four themes also had subthemes related to them. And I’m now going to go through each one in turn and each subtheme, with some quotes added in from the participants, just to illustrate the findings a little bit.
So this next slide shows the four subthemes that were related to theme one, which was “Constant adaptation”.
And there’s a bit of a cycle in the middle of the slide, which shows first changing capacity, which leads to a psychological toll, which leads to trial and error. And those are in a bit of a cycle shape. And then finally there’s a sense of a challenge to independence underneath that.
So this first subtheme was “Change in capacity”. And that relates to the fact that the majority of participants, when I was talking to them about how they experienced their deteriorating sight, they often described it in terms of the limits that it had had on their capacity and their ability to do certain things.
So there’s quite a good quote on this slide, which illustrates this from participant 7.
With all the quotes, I’ll make sure I’m reading them out verbatim as well, so don’t worry too much about reading them.
So the quote from participant 7 says: “So it’s things like, you know, I can’t see as I did to be able to say even just pour a drink. I have less confidence to go somewhere because I might miss the door, because I can’t see doorways anymore.”
So that shows the range of different things that people might have issues with when they’re noticing the decline in their sight.
And then leading on from this was subtheme number two, which relates to the “Psychological toll”.
So participants really sometimes felt that the changing capacity brought about a psychological toll, because they were no longer able to do things that they were able to do previously.
So, for example, participant 10 talks about in the first quote: “But to be honest, with a certain point, I felt, you know, helpless because of my eye condition. You know, that it deteriorated that much. I couldn’t help that much, you know.”
And then participant 13 talks about: “I think I’ve probably experienced something like a grieving process through losing my vision.”
So you get a real sense there for the way that different people, different participants, explained and made sense of the change in their sight.
The next subtheme is “Trial and error”, and that refers to the way that participants discuss their practical adaptation to their changing capacity. So aids and adaptations. And we heard about some of these in Gayle’s presentation as well.
Things like assistive technology, magnifiers, mobility aids, use of hats and sunglasses, and changing lighting levels in domestic or work environments were all mentioned as practical methods of adapting to further sight loss.
And one thing that came out quite strongly from a few participants was although these were all really useful strategies, the actual process of finding out about them and then actually testing them out and then working out how to adopt them in day to day life was in and of itself quite a challenging process for some participants, and again really took a toll, because different things worked well at different times of the day according to, you know, even what time of the year it was. So even that in and of itself could be challenging for people.
And then finally, the last subtheme in this first theme – sorry, there’s a lot of themes in this presentation! – is “Challenge to independence”.
Many of the participants identified as being fiercely independent and were very resilient, and their change in sight brought about a bit of a challenge to this.
There was sometimes this bit of a paradoxical relationship between support and independence. So participants felt that sometimes they had to admit that they needed help, which made them feel less independent. But then after that then provoked them to seek support, they would then end up increasing their independence. So there was an interesting relationship there.
And there’s a couple of quotes on this slide that illustrate that idea.
So participant 11 says: “You know, with the right help in place, you can still kind of do X, Y, Z.”
And participant number 3 says: “So over the years it’s been, it’s getting that balance right, that yeah, you want to be independent, but there’s independence and then there’s stubbornness.”
So overall, the first theme of constant adaptation really shows how people’s changing vision can – and like the adaptations to that, and how that intersects with their own independence – can really take a psychological toll on people with aniridia.
So the next theme was around anxiety, and there were two subthemes within this.
So the first subtheme was “Future sight loss is unknown”. And so fear and anxiety around future sight loss, the extent and timing of it, and the impact it might have on various aspects of people’s lives, such as caring for family members, or work and social activities.
This could be quite a big thing for some individuals, as shown by the quote from participant 11 on the slide, who says: “So that was a big thing that I had to adjust to. The future at some point will be that I have very limited sight, and I don’t know how long that would be. No one can tell me, I don’t know whether it’s going to be 5 years or 20 years. So that was a bit hard to get your head around.”
And so yeah, that really highlights having to deal with this daily uncertainty of what your sight might be doing in the future.
And a really important coping mechanism for people around this was being really proactive about researching future sources of support and future-proofing various things in their life.
So being aware of contact details of agencies that might help, staying on top of new developments, maybe learning different skills in advance of having to need them, so that people could feel a little bit more in control of that process.
And then the second subtheme under “Anxiety” was that “Treatment is worrying”. And interesting, this was a bit of a difference between people with sporadic and familial aniridia.
So people with familial aniridia may have had family members, especially an older generation who’d had poor treatment experiences, and were therefore potentially more anxious about treatment.
So the first quote on the slide speaks to this, it says: “As I say, I might not be so fearful of the operation that will be coming up at some point if hers hadn’t have gone so wrong.” And that was someone referring to an operation that their mum had had.
And then some participants waited for as long as possible before they got surgery, as illustrated by the second quote on the slide which says: “I was terrified of the surgery until it got to the point where it was so bad in my right eye it was useless anyway, so I thought I might as well do it. And then it improved the sight in that eye a lot, which is when I got the other one done.”
So there was also a bit of a sense of a postcode lottery around this as well.
So there were a number of participants who unfortunately mentioned some poor health care experiences. But these very much depended on the particular clinic or doctor that participants came into contact with, and was by no means universal as some other participants who mentioned very positive experiences. But it does show that there is some differences between who people’s care provider is and therefore what they’re experiencing.
So, theme number three, this is the third one of the big key themes, was “A changing relationship with the outside world”.
Owing to the time constraints, I’m not going to go through each of these subthemes in particular with quotes one by one, but just to speak briefly on them.
So the first subtheme was “Going out”. For some participants going out and about, they found it more difficult to go to especially unfamiliar environments and especially by themselves.
And this was made worse by inaccessible environments in society, such as some supermarkets and other environments, which might be more difficult for people in terms of layout or emphasis on self-service checkouts.
So that was very much an emphasis on inaccessibility of certain environments in society.
And then secondly, participants mentioned that they did generally become more reliant on others when they were out and about.
So this is the second subtheme, which is “Relying on others”. So for some participants it came very naturally to approach others and be very open about asking for help and support, and for others they had to force themselves out of their comfort zone, but it would often become easier the more they did it.
And then the final subtheme was relating to “Work”, and people reported that their changing eyesight did affect their jobs. And one really important factor as to whether people were able to continue working or not was flexibility of employers, which shows the importance of that for many people.
And then the fourth key theme was about “Support”, which within it had four subthemes. Hope you’re bearing with all these themes!
So the first subtheme was “No one to guide me”, and this relates to one topic which most participants brought up, which was most different for people with sporadic aniridia and people with familial aniridia.
And both groups of participants agreed that it was more difficult for people with sporadic aniridia to really find out about and access support, because you don’t know what you don’t know, and if you’re the first member of your family with the condition then it’s already much more difficult for you to find out about these things.
So there’s two contrasting quotes on the slide which illustrate this.
The first one’s from participant 11, who had sporadic aniridia, he said: “So you’re kind of going through the sight loss but no one is helping you navigate it.”
And the other quote is from participant 8, who’s got familial aniridia, who says: “You’re native to that experience. And I think it does make life a lot easier in terms of navigating sight loss.”
So I think that metaphor of feeling native and navigating – you know, you’ve got the map, you’ve got the compass, you’re really prepared for navigating this world – is a really interesting metaphor when we’re thinking about the differences for people’s experience of navigating support ultimately.
The second subtheme is “Families are complex”. So as I’ve just mentioned, families can provide really useful guides to available support if there’s already someone in the family with an eye condition or aniridia.
Also on the positive side, participants said that they would provide direct support as well, and partners, siblings and parents were very much available for emotional or practical support when participants needed a hand, which is exemplified by the quote on the slide from participant 7.
He said: “I rely on my partner, he’s got a vision impairment himself but he’s got very, very good vision though. So I rely on him, well quite a lot really, to help me out doing bits and bobs, even if it’s just like finding the towel or something. You know, whatever it is.”
However, families were not always necessarily a straightforward source of support for participants Especially on the emotional side of things, there were some challenges, such as not being able to really openly express emotions to loved ones because you’re wanting to protect them.
And I think that shows the importance of emotional support outside of a family environment as well. And we’ll be talking about mental health support a bit later on.
The third subtheme under “Support” was “the VI community”, and many participants felt that their most useful source of support when they’re experiencing deteriorating sight was from the VI community itself.
And people often talked about how important it was that it was in an informal or peer group sense, rather than a taught session – you know, a really sort of structured session. it was more important to be in this milieu and in knowing other people with a VI and having that informal network.
So participant 11 talks about this with a quote on the slide, which says: “It began to give me a bit of knowledge and understanding that there are other people out there like me, and actually my challenges are quite normal, if you have aniridia.”
So I think this subtheme shows the importance of events like this one really and community-led support groups in this space like Aniridia Network and other patient support groups, in terms of providing those networks for people.
And then the final subtheme of the “Support” theme was “Inadequate support”, and this was regarding frustrations that some participants had with support that was inadequate in some ways.
So firstly, there were two types of support that were viewed as particularly inadequate.
So the first one was around accessing financial support that participants were entitled to like PIP and things like that. And people often had quite negative experiences of accessing this and having to go through the process of applying for this, and participant 1 mentions this in the quote on the slide.
He says: “Don’t really feel like there is actually much out there to help. Although there are some benefits they make, or they seem to make, them really hard to get hold of. And it’s an effort enough going through the interview and saying all of the embarrassing things that you have to say.”
And then secondly, whilst many participants felt they would likely benefit from more structured mental health support as they were adjusting to deteriorating vision and things like that, they often either did not have access to it, or when they did, it was an inadequate structure.
So it was very limited number of sessions, or it was using an approach that wasn’t particularly helpful, or sometimes the counsellor was not well trained in awareness of VI issues, or didn’t have any lived experience themselves. So they weren’t able to provide the kind of support that people really needed.
So I know that’s been quite a lot of information there to go through quite quickly. So I wanted to give a little bit of a summary really.
So the first thing is that further sight loss can be associated with constant adaptation and that sort of psychological challenge of adjustment.
And then secondly, anxiety, especially about the future, and especially about any further treatment options. And this is supported by other research in the broader context of the impact of deteriorating vision as well.
There are some coping strategies that participants use to deal with this further sight loss, including the idea of future-proofing, and thinking about skills and equipment and knowledge that they needed to help them cope with any sight loss they have in the future.
The second one was this personal resourcefulness and resilience.
And then next was the support from family, friends and the VI community. However, other support could be better.
And the key differences between people with sporadic and familial aniridia were firstly the availability and access to knowledge and awareness about available support, and secondly, expectations about treatment, depending on the familial experiences that were present.
So some recommendations then as a result of this research.
So the first thing is better information about what support’s available, and that’s especially necessary for people with sporadic aniridia.
And ideally, it should be available at multiple points. So potentially at the diagnosis point, but also whenever that person comes back into contact with healthcare providers and people like ECLOs and other people in that ophthalmology environment.
It would be really good for them to think more carefully about that, potentially improving some ophthalmology care, especially around being sensitive, that people with aniridia may be particularly nervous about further treatment. Being more transparent about uncertainties and empathy as well.
And then better availability and quality of mental health support with counsellors who have experience of, or are trained in, visual awareness. I think that would be really important.
I wanted to say some thank yous as well. So thank you so much to all of the participants of the research. Everyone was really open, warm and patient in all of the interviews. So I really, really appreciate all of your time. Also thank you to the trustees of Aniridia Network and to my supervisor, Professor Marion McAllister.
All right, any questions?
[Tierney] Thank you so much, Helen. That was really, really interesting, especially seeing the difference between the familial group and the sporadic group. I don’t think it had really recognised with me how different it can be with your experience growing up.
We have a few questions in the chat for you. So the first person has asked what made you decide on the interview process, because it’s quite an intense process going through all of that, having the individual one by ones over maybe something like getting questionnaires?
[Helen] Yeah, that’s a really good question.
So the question that I had was really getting to grips with people’s experience of their change in vision, and I felt that a qualitative approach, so asking questions would enable me to really get to the bottom of those experiences in a very personalised level.
So although you can have questionnaires and they enable comparability and things like that, you can’t necessarily really get to the heart of people’s experiences. So, that was why I chose to go with the qualitative interview approach.
But certainly, there’s a lot of space for questionnaires and those more structured approaches, I think. You know, especially coming from this kind of research in the future.
[Tierney] Yeah, I mean there’s pros and cons to everything right?
Okay, so the next question we’ve got in the chat, I’ve got one sent directly to me, which was do you Helen have any suggestions of what area the community should be investigating further, to see how people with aniridia could be better supported?
[Helen] Yeah, I think there’s a real importance about availability of information. That was definitely one of the findings.
I should say there’s quite a long bit in my dissertation about the strengths and limitations of this research, which I haven’t gone into. I’m happy to go into great detail about it.
But definitely one of the limitations is because I used Aniridia Network to recruit, there’s a bit of a sample bias, and that I was only able to speak to people who were already tapped into those sorts of networks.
So it’s hard to know what the experiences of people who aren’t currently tapped into patient support groups like Aniridia Network might be, but certainly even talking to the participants in my research, it was clear that availability of information was really, really important.
And there are things like low vision services and other things like rehabilitation officers who do a really good job, but a lot of them are very overstretched.
And almost having continuous points of contact with individuals like that who can provide much more information about support, I think would be really, really helpful. And definitely mental health support came out very strongly as well.
[Tierney] More work needed, as always.
And then we’ve got another question here. They’ve noted that your talk was really interesting, so thank you so much for all your work.
You’ve mentioned a lot about support, and one of the three concerns for the study group was work. Do you know of any groups or organisations that help with finding opportunities for people with aniridia or visual impairments in general?
[Helen] I guess that would be in an employment environment, probably, yeah.
I think in terms of employment, the RNIB does have some availability of internships and things. I think the Thomas Pocklington Trust also has a lot of really good resources about employment for people with different types of vision impairment, including aniridia. But yeah, I think there is definitely resources out there.
And certainly, once you’re in work, there are government programs like Access to Work, which exist to try and help provide support for people who are in employment.
But yeah, definitely one of the findings was that employer flexibility was really important and should be emphasised to any employers.
[Tierney] Great. Thank you so much Helen, that was really interesting.
[Helen] Thank you. Thanks everyone.
Thank you to Glen for the video editing and write-up.
Aniridia Network 