When I first held my daughter Karsu in my arms, like every mother, all I wanted was to know that she was healthy. My pregnancy had already been an incredibly precious and emotional journey. Karsu came into our lives following IVF treatment and was a very long-awaited baby.
She weighed 2,510 grams at birth. During those first weeks, I was occupied with the things that fill the mind of any new mother: feeding, sleeping and whether she was gaining enough weight. We had no idea that another journey was about to begin.
When Karsu was around two months old, she was diagnosed with sporadic aniridia.
Until that day, I had never even heard of ‘aniridia’. Suddenly, I found myself researching a rare condition I knew nothing about. I quickly learned that aniridia was much more than the absence or incomplete development of the iris. It could affect several structures of the eye and required lifelong ophthalmological follow-up.
Many questions
As a mother, my first question was very simple:
“Will my daughter be able to see?”
Then came many more questions.
How would her vision develop? Would she be able to attend school independently? Would she develop glaucoma or cataracts? How could we protect her eyes from light? What could we do now, while she was still a baby, to give her the best possible opportunity to use and develop her vision?
Genetic testing
Tests later identified a deletion on chromosome 11 involving the PAX6 gene, providing a genetic explanation for her aniridia. Importantly for us, the WT1 gene relating to WAGR was not included in the deletion.
My husband and I were also tested, and our results were normal, indicating that Karsu’s deletion was de novo.
Genetic testing also revealed a deletion involving part of chromosome 2. At present, the significance of this finding remains uncertain. There is not enough information in the medical literature to tell us clearly what, if anything, this deletion may mean for Karsu’s future development.
We have been advised that there is no definitive diagnosis or predictable outcome associated with this finding at this stage. For us, this means that some of the answers will only become clearer as Karsu grows and develops. We will continue to follow her development closely with her doctors, but for now, we are learning to live with a degree of uncertainty rather than assuming that a particular problem will occur.
After diagnosis
After the diagnosis, our lives became filled with ophthalmology appointments, genetic testing and research. We began regular paediatric ophthalmology follow-up in Istanbul. At present, Karsu has no glaucoma or cataracts, which we are very grateful for. She has started wearing glasses, and we are exploring early visual rehabilitation and ways of supporting her visual development.
But one of the most important things I have learned is that receiving a rare-disease diagnosis is not only a medical experience.
As a parent, you constantly think about the future. Sometimes you spend hours searching the internet, wondering whether a study taking place somewhere else in the world could one day change your child’s future.
I began following research involving PAX6, potential gene therapies and clinical studies, and reaching out to researchers and aniridia organisations in different countries.
When your child has a rare condition, knowing that you are not alone makes a real difference. Seeing that another mother or father once asked the same questions you are asking today reminds you that your child’s future is about much more than medical reports and test results.
Karsu is still only a baby, and we do not yet know exactly what the road ahead will look like.
But my goal is no longer simply to find the answer to “What will happen in the future?”
My goal is to do everything I can today to support her visual, physical and emotional development, while continuing to follow the science and learn from other families.
Perhaps sharing Karsu’s story will reach another mother somewhere in the world whose baby has just been diagnosed with aniridia and who is feeling the same uncertainty I felt.
If it does, this is what I would want to tell her:
You are not alone. Not every question will have an answer today. But as you find reliable information, the right specialists and other families walking the same path, the road ahead gradually becomes a little clearer.
Sema wrote this after reading our Tell your story page. Get in touch if you would like to do the same
Read details of what our officials, members and supporters did as well our finances between 1 April 2025 and 31 March 2026 in the Aniridia Network Annual Report for 2025/26.
Key points
Reviewed RNIB factsheet on aniridia
Supported members with enquiries on range of topics
Successful online conference
Held popular meet-up events
Attended WAGR Weekend
Offered research grant but had no applications
Continued growth of membership and social media followers
Lack of volunteers still a major problem
Low income from special fundraising feats
Invested savings to use interest for running costs
Thanks to the the amazing input by everyone who helped with all these activities.
However, we continue to really struggle to do some basic things well and rely too much on a few very active volunteers. We badly need more people to help us achieve our goals. Please volunteer and fundraise if you can.
Independently examined financial accounts of Aniridia Network for the year 2025-26
Announcement of the results of the online vote to re-appoint Katie Atkinson as a charity trustee until the 3rd AGM after this one, subject to the compulsory retirement of 1/3 of trustees by rotation at each AGM as described in the charity’s governing document.
During our online meetup earlier this year to mark Aniridia Day and Father’s Day, we were given a preview of an important new research project.
Harriet, an MSc Genetic Counselling student from Cardiff University, is preparing to conduct a study with Aniridia Network, which will ask the question: “What is the impact on family members of the diagnosis of aniridia in a child, and what would help?“
She will soon be recruiting parents and other family members for interviews about their experiences, and she will explain what the project involves and how you can take part.
This is a fantastic opportunity for you to directly shape research that could improve support for families. We will share the details on how to get involved once the recruitment process begins.
Check out the video and transcript of Harriet’s talk below.
Transcript
So I will be conducting a qualitative research study through Aniridia Network, where I’ll explore the psychosocial impacts on family members of the diagnosis of aniridia in a child and what would help. The word psychosocial relates to anything to do with quality of life, experiences, emotions, relationships, employment, so it’s basically anything that isn’t to do with the clinical experience of someone’s eye condition.
So just as an outline to my presentation, I’ll talk through what my research project is planning to investigate, what the recruitment and participation will look like, and then at the end of the presentation I can answer any questions people might have and discuss the logistics of signing up if you are interested to be interviewed by me for this research project.
So just to introduce myself briefly, I have just finished the second year of my master’s studying genetic and genomic counselling through Cardiff University. And as part of my second year just gone I did a clinical placement at Moorfields Eye Hospital, where I supported patients and families with various genetic vision and hearing loss conditions. And since then I’ve been working in the North West Thames Regional Genetics Service in London, where I work with genetic counsellors supporting families with a wide range of genetic conditions, anything from hereditary cancer to rare diseases. And after this summer I’m about to start my third year of my master’s and this is where I’ll be conducting this research project.
So just a bit about the aims of this research project. Up until now no research has specifically explored the psychosocial impacts of a child’s congenital aniridia diagnosis on family members. So that’s what this study seeks to address in this research gap.
And in addition there’s also a gap in research comparing if there’s a difference in both family’s experience and support needs between familial and sporadic cases of aniridia. So hopefully research findings from this proposed study can guide how patient organisations such as Aniridia Network in the UK can better support families at the time of diagnosis.
And then also hopefully these findings can help inform how NHS ophthalmology, paediatric and clinical genetics services can organise these specialist pathways, and improve training for genetic counsellors and other health care professionals involved in patients care. So this project will seek to find out what sort of information, support and resources family members feel that would have helped them at the time of diagnosis.
So I’m going to talk a bit about the sort of research that already exists and why further research is needed. At the moment most existing clinical literature focuses on the phenotype and management of aniridia and less emphasis on the psychosocial impact. And in particular there’s a lack of diagnosis-focused research, how the diagnosis impacts families and how the experience potentially differs between sporadic and familial cases.
There was a study published in 2025 by Ancona and researchers, where they explored the lived experience of congenital aniridia. And key themes identified in this study included independence, bullying, feeling misunderstood and the requirement for both psychological and practical support, especially at the diagnosis stage. And then furthermore existing research exploring parental and family members’ experience of receiving a genetic diagnosis for their child largely centres on developmental delay, intellectual disability and complex rare conditions.
So given this research gap in understanding how families experience an aniridia diagnosis, it’s really essential to consider the role of communication in influencing their early diagnosis journey. And then understanding how a diagnosis impacts family members from the outset is also essential, because early support and clear communication can positively influence coping trajectories, which could potentially alleviate any psychosocial difficulties that patients and families experience later in life.
And then to do with the rare disease support needs, parents and caregivers of children with rare diseases frequently bear the responsibility of identifying reliable and accurate information about their child’s condition. And particularly in the absence of specialised centres and healthcare professionals, families turn to patient organisation support groups such as Aniridia Network for practical and emotional support and advice. So this research project will be investigating what is a very under-explored area.
So a bit about participation in my research project. Participation is entirely voluntary and it’s up to you to decide whether or not to take part. If you decide to take part, I’ll discuss the research project with you and ask you to provide your verbal consent which will be recorded in a consent form and also audio recorded.
And just to mention that your decision to take part or not to take part will not affect any support relationship you may have with Aniridia Network. And if you change your mind you’re free to withdraw your consent to participate in the research project at any time without giving a reason, even after signing the consent form.
So a bit about how recruitment works. Recruitment will hopefully take place between September and October 2026, and this is following ethical approval I have to get from the university.
Once recruitment starts, any interested participants will be emailed a participant information sheet and the consent form to sign. And this participant information sheet will outline the study’s purpose and aims, some benefits, risks and the data collection use and storage strategies.
These two documents will also be attached to all of the study recruitment advertisements that will go out in a couple of months. And these will be posted on Aniridia Network social media and distributed via the email list as well. And members are very welcome to forward the recruitment advert and form onto any relatives or partners, whoever else, the caregivers and impacted people that might be interested in taking part.
Participation will involve an interview with me for approximately an hour, usually over video call or we can do telephone if that suits better, and we can pick a date and a time that works for each participant. The topics and the discussion in the interview will be about your experiences of a family member’s diagnosis of aniridia, and what support you had and would have ideally needed. So you’ll be asked about whether your family member has familial or sporadic aniridia and how you think this may have affected your experience with aniridia more broadly.
And then just to note all signed consent forms, audio recordings and interview transcripts are stored securely on Cardiff University’s OneDrive for data protection. And audio recordings will be transcribed immediately and anonymised to maintain participant confidentiality by removing any identifiable information.
In terms of results, the main result will be for me to write this up as a dissertation for my master’s and this would also be accessible to any Aniridia Network members if they would like a copy of it themselves, and it could be published on the website. And at the end of the year I’ll also write up a summary to be sent around to participants and anyone interested. And just to note that no participant identifying information will be attached or included in any of the research study outputs, it’s all anonymised.
This summer I’m submitting my research project proposal for an ethical opinion review by the Cardiff University School of Medicine Research Ethics Committee, and then as soon as I receive a favourable ethical opinion I can officially start recruiting.
So advertisements will hopefully be published around September/October and recruitment emails sent around this time too if people are interested in taking part. And this will have my email and contact details on for people to get in touch with me if they would like to participate or just ask any further questions about it, and then I’ll send you across the participant information sheet and consent forms to sign.
Congratulations to Grace, who has WAGR and won the local Child of Sussex awards in June. She was nominated by her school, and then got through to the final 50 nominees. She won her category of Children’s Champion being recognised for her resilience, kindness, positivity and her shining light.
At our recent online meetup to mark Aniridia Day and Father’s Day, we heard from Simon, 43, who has aniridia and is bringing up a child with the same condition.
In his talk he shared what it’s like to navigate aniridia from both sides. His son is going through many of the same things that he did growing up, yet the world has also changed and many of the challenges are new or different.
Check out the video and transcript of his talk below.
Transcript
So I was born in ’83 and I was the first person in my family to have Aniridia as well. My son was born in 2010 and I always knew there was a chance that I would pass on the phenotype of PAX6.
And my parents and I had blood tests carried out. I think it was Professor van Heyningen actually who analysed the samples, which would have been in the early 2000s. And at the time they didn’t find any abnormalities in PAX6, but I remember being told at Moorfields that there’s still around a 50% chance. But that was as much genetic counselling as we had at the time.
So I suppose when Wasim was born, having the diagnosis wasn’t necessarily unexpected but it was still quite worrying. He was born in Barnet Hospital in London and it was identified I think the day he was born or the day after.
And he was seen by an ophthalmologist at Barnet Hospital, but she quickly referred him to Professor Tony Moore at Great Ormond Street. So he was under Tony Moore’s care for the first few years. So I think we were fortunate in that we were in London and we were near to Moorfields and Great Ormond Street.
But when he was around one and a half or two years old we moved to Nottingham, as my parents wanted us to be nearer to them. And then we transferred to Queen’s Medical Centre, where I think both he and I found that there wasn’t the same level of care or expertise in terms of dealing with Aniridia and related eye conditions.
Fortunately now we’ve moved to Rugby, so he is being seen at Moorfields once more, and I think he’s due to be transferred to the adult services clinic. Well he’ll probably be seen in clinic for the external eye disease clinic like me, probably under Daniel Sibley or Saj Ahmed.
So he’s nearly 16, he’s in year 10. He’s not quite sure about what he wants to do, but he’s doing reasonably well at school. And fortunately I think things have developed a lot. They’re probably still not perfect, but in terms of special educational needs provision, the schools he has attended in Rugby have seemed to be much more forthcoming in terms of support.
There have been a few difficulties with things like his photoreactive glass lenses, and some teachers haven’t read through his file and then they’ve queered why is he wearing sunglasses when he’s indoors. But generally I think things have been a lot smoother for him than they were for me when I was going through school.
And I think probably, from a father’s perspective, as somebody who has Aniridia and many other related eye conditions, I think that’s helped me in a way to empathise with him and to be able to understand what he might be experiencing.
For example, a lot of his friends are now talking about learning to be able to drive and we’ve obviously had to have the conversation about how his vision won’t be sufficiently correctable. And I went through that when I was 11 or 12 years old, and as a child I was somebody who was obsessed with cars, so I remember how difficult an experience that was for me when I was being given that information.
And I think also it has helped in that when I’ve gone to medical appointments with him I’ve been able to ask questions. For example at Moorfields he was being seen in the paediatric strabismus clinic. And because recently in the last five to ten years I’ve started to have issues with cataracts and corneal scarring or Aniridia-related keratopathy, obviously a concern I’ve had is that he might suffer some deterioration in his vision or chronic eye pain later on in life. And maybe it wasn’t widely known about when I was a child.
So I’ve now asked for him to be referred to the paediatric cornea clinic at Moorfields Eye Hospital and he will be seen under external eye disease. So hopefully he’s in the best possible place.
But they’ve said so far he does have cataracts, but there’s no sign at this stage that he has any issues with his corneas. But we do keep nagging him to put his lubricating drops in. Quite how often he’s doing it we don’t know.
But I suppose overall my observation as a parent who has Aniridia is having had that first-hand knowledge and the experience, I suppose it helps in terms of supporting and empathising with what a child might be experiencing, in summary.
This year’s Aniridia Day on 21 June coincided with Father’s Day. So we held a special online meet up to explore parenting topics, with 3 short talks and an open discussion.
One of the talks was by Mark, 62, who has spent almost three decades supporting his son Harry, 29, who has aniridia.
Mark reflected on what he has learned over that time, from Harry’s diagnosis through his childhood, school, and into adulthood — and the highs and lows along the way.
His main observations were:
It’s a unique journey for each family
Seek friendly professionals
Aniridia provides challenges but it is what you make of it
You can watch the video of his talk and read the transcript below.
Transcript
I don’t have Aniridia but Harry, my second son, does. And I thought I’d look back from a dad’s perspective of what I recall from the best part of 30 years with Aniridia.
If some of this seems familiar, it’s because it builds on the Journey With Aniridia talk that Harry and I gave to the Aniridia Aniridia Network UK conference in 2014, which is why the slides I’ve got have been trimmed from that and they’re not quite on brand. So apologies for that. And of course the YouTube for that is on the Aniridia Network homepage, so if you’ve watched that recently, some of this will be familiar.
What I found interesting when I read my notes from 2014 is how much of this journey I’d forgotten. The fights and the struggles and the coming to terms with being different, and making adjustments, and being involved in advocating, had all become a distant memory. Which is probably a good thing in that the hassle and the heartache doesn’t continue. Things do get better.
So it’s a unique journey for you. Every family has their own personal journey and each person in the family has their own separate journey, all shaped by circumstances, and you become your own experts in the condition.
Looking back, my journey as a dad has been one of providing practical help and taking a scientific approach to understanding the condition. Whereas in contrast Andrea, Harry’s mum who’s sitting out of shot beside me, has been the more reassuring and supporting emotional. And I think between us as parents we’ve covered most bases for it.
And for context, there’s no previous occurrence of Aniridia in our family. And I think it was quite interesting listening to Harriet, because she’s laid the groundwork for an awful lot of things that we’re going to be looking at.
So, Harry was born 30 years ago, half of my lifetime, in the early hours of a cold November morning in 1996 in Furness General Hospital in Barrow, which is a remote town in Cumbria, famous for building submarines.
And as soon as he was breathing, the midwife counted his fingers and toes, Something that hadn’t been done when Harry’s elder brother had been born in Royal United Hospital in Bath two years earlier. And when I asked, they said “your elder son wasn’t born in Barrow”. Ten fingers and toes, no genetic problems, I mistakenly believed.
We moved up to Scotland when Harry was only a few weeks old. And he was referred to Glasgow Children’s Hospital for checks at his eight weeks check up, and Aniridia was diagnosed.
The explanation of the condition then was clinical, blunt, with no attempt at reassurance and, what’s more, no practical advice that answered what does this mean for Harry and for us, his family? And we really wanted real world answers.
In 1996, there was no social media and a search of the early internet threw up only medical information, much of which was inaccurate or not relevant for the UK. And it wasn’t what we wanted. We were looking for practical information drawn from lived experiences.
It’s easier now with social media and niche community groups, but 30 years ago it was by word of mouth. And the most helpful conversation that gave us some reassurance was with Yvonne Boone, who then was part of Aniridia UK.
Harry was subject to the six-monthly routine of a range of tests, which weren’t well coordinated. And it took us a few years of chaos to finally realise that there wasn’t a standard way of doing things. We had to start working it out for ourselves.
We kept lots of notes – what’s happening, what experts say, what the plan is, and making lists appealed to my nature. It was something that I could do by being pretty systematic with it. And the lists included any significant differences in Harry’s behaviour compared to his elder brother.
And we slowly came to realise, to our great relief, that in most respects, Harry was a normal, happy toddler. But after three or four years we still didn’t really understand how best to treat Harry’s sight with glasses. By this stage he had prescription lenses, but he’d been wearing kids sunglasses at the time, and they didn’t work with prescription lenses.
Eventually we found a specialist ophthalmologist, and although he was 90 minutes away across Glasgow, the journey was worth it, because in our first 45 minutes with him he did more tests on Harry’s eyesight than had been completed in the previous three years.
And that leads to my second observation, to seek out friendly professionals, find the experts and get them to answer your questions. They do exist, but you might have to get recommendations.
We were offered loads of really useful information, much of which hadn’t been mentioned at all in the previous three years of growing up and diagnosis and hospital visits. And I’ve got to admit, I really enjoyed the visits, and understanding the technical and scientific or practical side of Harry’s Aniridia. And being able to break it down into cause and effect really helped me to understand it.
About this time we started to think about nursery and preschool, and we realised that even if teachers wanted to, they wouldn’t find information that was important or relevant to Harry in textbooks.
We drafted a simple A4 information sheet to summarise our knowledge and related observations of Harry’s eye condition and how they affected him. This was done with Harry’s input as best he could and then written from Harry’s perspective, and this personalised sheet of “My name is Harry” was our first pupil’s passport.
And by writing down what we knew, Andrea and I discovered that each of us had spotted different aspects of how Harry reacted to things. And even now, after 30 years, there are still aspects of Harry’s condition that only one or other of us still understand.
In 2003, when Harry was seven and settled in primary school, we moved from Scotland to the Forest of Dean on the Severn Estuary in Gloucestershire. Our local village was small, only 60 pupils, and what a contrast.
This was a very different care regime, and we thought Scotland had been chaotic. But in England, there was no joined up support, and Gloucestershire seemed very fragmented. We were starting again from scratch, but by now we were becoming battle-hardened.
We revised the pupil’s passport with Harry’s suggestions and turned it into a booklet. He understood his condition and wrote it up as a diagram. “Where the arrow is pointing, that piece is called ‘Iris’. Some people have an iris and some people don’t, like me, Harry Westwood.”
But within six months, it was clear that his self-esteem had taken a knock and that he was struggling at school. We called a meeting with a head teacher. Harry was eight and was very aware of what was wrong and how he thought things should be changed for him.
We reviewed everything that we could think about at school, and it turned out to be a really good learning session for both us as parents, for Harry, and for the teachers. We pushed for a statement of educational needs to be put in place before his SATs started.
But not only did we want support and adjustments for the things that were holding him back, we also needed to manage people’s expectations about what Harry could still do normally, and what he would want to do, to prompt people to set prior expectations for him.
Andrea and I became parent helpers at school and we both got involved in helping the local Scout group to support Harry. I’ve ended up running our local Scout group for the last 23 years and find myself advocating for all young people who need support when their parents claim they can’t or won’t do such and such a thing.
And I find it interesting that quite often parents of capable young people unknowingly put constraints onto what they think their children can do. So it’s not just medical conditions that hold young people back. Parents’ expectations can also hold back.
Now eventually it came time to move to secondary school. He was going from a village school to one that was ten times the size, where Harry would be anonymous initially. We updated the pupils passport again, including a more thorough understanding of successes and shortfalls.
And in secondary school we had much less contact with Harry’s teachers, so Andrea arranged to meet Harry’s teaching assistant at school every Friday, as school finished. And this was a mum thing. And I became gradually less aware of details of issues and progress. For me, to some extent, Harry’s secondary school just happened.
Fundamentally though, Harry got stuck in at school, and with Scouts he completed the Duke of Edinburgh Bronze, he became a prefect in his final year, and he was determined to demonstrate that Aniridia did not define who he is.
Now his school didn’t have a sixth form, so after GCSEs we had to work on the transition between schools again. Harry’s results were good enough to get him into the sixth form at Tommy’s Grammar School in Gloucester.
They didn’t have much experience with pupils joining the sixth form with special needs, so we sat down with the SEND coordinator and explored some of the issues and again we rewrote his passport.
But by now Harry was more than capable of managing a transition. He visited the school before the start of term, took videos of the routes through the corridors, and studied them to really learn the layout of the school and how to get from A to B.
And learning routes from videos was a skill that he became renowned for. Studying routes using Google Street View, identifying landmarks so that he could find his way around. He became an expert at it and showing his friends around, and he had little difficulty navigating his friends around Rome.
Harry’s A level results got him to Birmingham University. We were excited, albeit with some trepidation at the prospect of Harry leaving our care and managing his Aniridia by himself. But he was fine. Five years at Birmingham Uni disappeared in a flash. He graduated with a Masters in Physics.
And I rattled through this, not because it is trivial, but because Harry did this mostly on his own, advocating for himself, insisting the adjustments were appropriate. And while there was a bit of support from home – publishing applications, strengthening arguments, making more coherent cases – on the whole, it was Harry’s efforts that supported him and his advocating for himself, admittedly supported by the bank of Mum and Dad.
Harry got a job in business intelligence, analysing big data, a job that’s easily done from a home office. And as with many other post-lockdown families, we find ourselves all living under the same roof, frequently working from home.
We refurbished the house to enable five adults to work at home, including setting up Harry’s study to be dark with desk space and enough sockets to support the power requirements for modern technology. He continues to help as a team member with our Beaver Scouts.
But recently though, Harry’s been having more discomfort with his eyes. His eye drops aren’t providing quite the same relief. And this hose illustrates the industrial quantity of eye drops that he gets through. Now, Harry approves of that comment as an “appropriate level dad joke”, as he told me yesterday.
Localised specialists aren’t sufficiently familiar with Aniridia to be able to provide tailored advice. So he arranged for a private consultation at Moorfields this month. And for the first time in 15 years, I accompanied him on a medical consultation.
We spent the best part of an afternoon doing a variety of tests, speaking to specialists. And suddenly I was transported back 25 years to Glasgow, filling in key details, taking notes, asking questions and checking our understanding, and again taking an active part in the consultation process. The more things change, the more they stay the same.
But there were several noticeable differences at Moorfields compared to Glasgow. Harry now had 30 years of experience to draw on and knowledge of his own condition, and was able to describe his symptoms and answer detailed questions and ask probing questions.
I had half a lifetime of experience in developing my understanding of Harry’s condition and was able to fill in gaps in his narrative, and provide broader, richer context for the doctor’s questions.
And we both had 30 years of experience of dealing with medical professionals, and were happy to keep pressing and pressing until we felt that everything had been discussed and everything was properly understood.
I think notably though, compared to Glasgow, Moorfields had the time to be thorough and ask the questions and not let up until they were content. But even now there’s more consultation to be done because we haven’t yet found out everything we need from genetic experts.
So what does this mean from a father’s perspective? Well, Harry’s done much more and achieved much more than Andrea and I dared imagine 30 years ago. But Andrea and I have become involved in and contributed to groups, organisations and our community in ways that we might otherwise not have committed to under different circumstances.
And in looking back and thinking about half a lifetime with Aniridia, I amended my final observation from the 2014 talk.
So, yeah, Aniridia does provide challenges and it is what you make of it, but also what it makes of you. There’s no doubt that it has provided challenges and opportunities. For us, it’s not been the end of the world that we vaguely imagined 30 years ago. Far from it.
I concluded in 2014 that we were probably much richer for it. But with the benefit of another 12 years, I go further and say that we are very definitely much richer for it growing up with Aniridia.
You have probably been asked this question before:
Are you a glass-half-full or a glass-half-empty person?
Well, let me rephrase that for our community.
Are you a person living in a society that isn’t built for you? Or are you a person that isn’t built for the society around you?
As a rule, I would say we with aniridia are all people who were simply not built for the design of the world around us. Does that make us glass-half-empty? Well, probably yes—but none of us can see the damn glass anyway, so let’s not worry about it!
What I am trying to say is that we all spend our entire lives constantly adapting to this environment just to make life baseline manageable for ourselves. We have all held a piece of paper so close to our face that we fear we might snort it up our nose with our next breath, simply because we’d rather strain to read it than make a scene by demanding a larger font or asking someone to read it aloud. We do it for a quiet life.
But you cannot be a ‘quiet life’ person and a change-maker at the same time.
Let me tell you the truth about living in a world that wasn’t designed for us: we are clever, capable people who have immense value to offer. We possess an elite skill set that society is actively missing out on. Paradoxically, it is the world around us that is acting like the ‘glass half empty’ and choosing the quiet life. The system looks at us and says, “It’s too difficult, there aren’t enough of you to justify adapting, it takes too much time, and it costs too much money.”
Well, I am here to tell you that is about to change.
Why? Because, if I am totally honest, I am a complete pain in the backside. But more to the point, I have the skills—and you have the skills—to shift the status quo. And no, you don’t have to be a pain in the backside yourself; you can leave that expertise entirely to me. Practise what you are good at, right?
Apart from not being able to see past the end of our noses, what do we have in common? On paper, possibly nothing. Our individual eye conditions are entirely unique to the bodies they come with; no two of us navigate exactly the same way. But do not despair: the fact that you have to focus on what is right in front of your nose is actually your greatest technical asset. It is the very thing that will change the world in our favor.
When you demand that the world changes to accommodate your journey, you inadvertently fix the world for absolutely everybody else. Your lived experience is an unmatched professional skill set. Everybody gets older. Everybody eventually becomes more physically or sensorily vulnerable. Because we have spent our entire lives adapting from birth, we are the natural experts in resilient design. It is time we used that skill set for the greater good.
Now, at this point, you do not have to don a cape or start wearing your underpants on the outside of your trousers like Superman. You don’t have to be a loud disruptor. Though, thinking about it, maybe I will try the underpants-on-the-outside trick next time—anything to get my point across to a local authority!
You are probably thinking, “Dear God, Robert, get to the point.”
Okay, I will. I am an Accessibility Consultant. What does that mean? I’ll tell you what it doesn’t mean: it doesn’t mean moaning about rigid regulations or helping corporations tick a box. It means showing society that we are worthy of being everyone’s absolute equal. It is not our job to clumsily adapt to an inaccessible environment; it is the environment’s job to adapt to us so we can navigate with dignity.
When I walk into a high street venue and the tap-and-go card machine inevitably fails, I am instantly stuck trying to read tiny buttons on a flat, highly reflective screen without a shred of assistance. What am I supposed to do? Smash my face against the terminal so close that I could tap my PIN number out with my tongue? Or am I forced to compromise my financial security and beg a stranger, “Please read this for me, here is my code”?
I don’t want to choose between feeling that vulnerable or that anxious. What I want is simple: I want that business owner to have placed a low-cost visual magnifier right next to the card terminal. It doesn’t structurally redesign the hardware, but it gives me an immediate fighting chance at independent customer logic. Just imagine how much better the high street would be if every terminal featured that simple touch. That small change benefits the whole community—including the elderly lady whose sight is fading after a lifetime of perfect vision. She profits from that magnifier just as much as we do.
This is exactly why I am taking my lived-experience walkthroughs to the public realm. Right by my home in Wrexham, an old converted railway path serves as my primary walking route into town. Currently, it is a sensory hazard: unlit at night, aggressively overgrown with stinging nettles, and obstructed by dark green and black cycle chicanes that sit at ankle height—perfect for tripping over.
Does this defect only threaten me? Absolutely not. Anyone can get stung; anyone can take an impact fall over an unpainted post in the dark. The difference is that the able-bodied public simply adapt and tolerate the decline because they don’t possess our specialized observation skills.
Wrexham County Borough Council has chosen a bureaucratic roadblock over a simple fix, which is why I am putting on my metaphorical cape to highlight the issue. The solutions are blindingly simple and cost virtually nothing:
First, paint the cycle barriers a high-visibility, contrasting color instead of camouflaging them against the bushes.
Second, establish a regular, logical maintenance routine. Don’t claim there’s no budget or staff; it takes one worker a few minutes during their regular bin-emptying route to clip back an intruding bramble or nettle before it causes an injury.
Third, fix the lighting. Ingeniously, the council already has windmill-driven streetlights on this path. The only issue is that they haven’t installed enough of them. Placing them directly over the cycle chicanes to illuminate high-visibility safety paint solves the entire navigation risk.
Whether it is me navigating with limited sight or a neighbor walking home after a few too many drinks in town, we both possess the fundamental right to travel our local paths with confidence.
Our lived journey insights can fix these broken layouts. To local authorities and high street businesses alike, I say this: give our community a moment of your time and invest in our professional expertise. Stop treating our autonomy as an afterthought, and see the untapped commercial and social value your disabled residents bring to the table. We aren’t here to make life difficult for everyone else; we are here to make infrastructure work better for humanity.
Now, if you will excuse me, I am off to remove my underpants from my head. Well, what did you expect? I can’t see a damn thing, so let’s not even talk about where the Superman cape ended up.
Learning your child has aniridia brings a range of thoughts and emotions. The effects on parents are not talked about enough, especially regarding men.
We had an evening exploring parenting topics with 3 short talks and an open discussion for everyone to mark Aniridia and Fathers Day.
Most of our parent members are mums – so there was a special invitation to the dads in our community – and for mums to get their partner to attend alongside them. And, for patients to tell their parents to come. We wanted to hear fathers’ stories, and to share your parents experiences.
What to expect
We were delighted to welcome three speakers, each bringing a different perspective.
Harriet, an MSc Genetic Counselling student from Cardiff University, introduced a research project she’ll be carrying out with Aniridia Network. The study is asking the question: “What is the impact on family members of the diagnosis of aniridia in a child, and what would help?“
Later this year Harriet will be recruiting parents and other family members for interviews about their experiences. She will explain what the project involves and how you can take part. This is a fantastic opportunity for you to directly shape research that could improve support for families.
Mark, 62, is the father of Harry, 29, who has aniridia. He reflected on what he’s learned over almost three decades of supporting Harry — from diagnosis through childhood, school, and into adulthood — and the highs and lows along the way.
His main observations were:
It’s a unique journey for each family
Seek friendly professionals
Aniridia provides challenges but it is what you make of it
Mark’s full career was as an engineer in the Royal Navy followed by a consultancy. Now he is working part-time to allow more time for his hobby, supporting scouting.
Simon, 43, shared what it’s like to navigate aniridia from both sides, as someone having it and bringing up a child with it. His son is going through many of the same things he did growing up, yet the world has also changed and mnay of the challenges new or different.
Simon has aniridia, nystagmus, optic nerve hypoplasia and foveal hypoplasia. He is married with one child and works as an IT engineer.
Conversation
After hearing from our speakers, we opened up for a group discussion. Mark’s and Simon’s stories encouraged others, to share your fears, approaches and recollections of parenthood, and family life with aniridia. There’s was pressure to speak, all were welcome to simply listen, as well as join in with questions, comments, and stories of their own.
Why now?
There are 3 important adjacent dates that we wanted to celebrate together, while leaving space for family gatherings on the Sunday:
It’s an important and exciting role where you can influence the support provided to aniridia researchers, doctors, associations and patients, across Europe and beyond. Together the directors discuss issues and take decisions about what the organisation does. They also often do the tasks agreed, for example: liaising with doctors, running events and fundraising.
These activities take place mainly in English and online, so being comfortable with both of these is important. Directors need good critical thinking, administration and communications skills. As volunteers they need to have time, enthusiasm and dedication to the objectives of Aniridia Europe.
If this sounds like and interests you follow the process decribed at the form linked to below. If you would like to discuss or find out more about the expectations, browse the Aniridia Europe website and contact post@aniridia.eu
Candidates for directors must be part of and nominated by one of Aniridia Europe’s full member aniridia associations such as Aniridia Network. Get in touch if with us if you are at all interested.
