Vivienne Kit is an Ophthalmology Researcher at UCL Institute of Ophthalmology. In addition to her clinical duties, she is pursuing a postgraduate research degree in aniridia under the supervision of Professor Mariya Moosajee.
In amongst their findings, they discovered that a small proportion of those patients had developed retinal detachments. And having since conducted a case review of those affected, they’ve observed a surprisingly high incidence of exudative retinal detachments, which are typically considered uncommon.
Vivienne joined us again at our online conference on 27 July 2024 to tell us more about this discovery and their aim to investigate further. You can see the video and transcript of her presentation below.
Transcript
[Tierney] So we will be hearing next from Vivienne Kit, who is an ophthalmology researcher from UCL, and she’s going to give us a little insight into what she’s been working on.
So I will hand over to Vivienne and I look forward to hearing from her.
[Vivienne] Ok, hi. So first and foremost hi to everyone. I think I might have met some of you before, I recognise some of the names in the group.
But I’m Vivienne, I’m an ophthalmology registrar from North London and I’m currently doing some research on aniridia.
So one of the things that I’m going to talk about today is aniridia and retinal detachment, not something that often is associated with aniridia.
But something that we found when we did a search through our database, I thought would be interesting to talk about today. So that’s what we’re going to talk about today.
So first off, so a bit of background information.
So aniridia is a panocular condition and if you were at the meeting last year you might have heard me talk about this before But we’re going to go through it again, in case there’s anyone new here today.
So aniridia is truly a panocular condition, meaning it affects all aspects of the eye from the front to the back.
So the cornea, which is the front see-through window of the eye, that’s involved in a condition called aniridia-related keratopathy, where you get a limbal stem cell deficiency and generally causing a gradual sort of clouding, a progressive clouding of the cornea, which can reduce your vision over time.
Iris, so in aniridia you can have variable degrees of iris hypoplasia, which is defects of the iris per se.
So in some patients, patients may have a presumably normal-looking iris but may still have PAX6 aniridia. But more classically, patients may present with partial or complete absence of the iris.
Now, moving even further back, the lens.
So again, the lens is important, a bit like the cornea, it helps focus light onto the back part of the eye, called the retina, which helps us see.
So the lens can become cloudy over time and it seems to happen a bit earlier in patients with aniridia.
But also another thing that’s structurally affected is we sometimes see lens dislocation or displacement in patients with aniridia.
Now, nystagmus and foveal hypoplasia is another thing we see very commonly in patients with aniridia. There’s glaucoma and optic nerve hypoplasia.
And the things I’ve mentioned here are things that we generally see in a lot of patients with aniridia.
Now, aniridia is caused by mutation in the PAX6 gene.
And PAX6 is important because it’s involved in development of the eye from when you’re an embryo, so when you’re in the womb, but it’s also continued to be expressed after you’re out of the womb and well into adulthood.
And so there’s a role of PAX6, not only in the development of the eye, but also maintaining its health and function.
Okay, but now here’s the interesting thing.
So aniridia means without an iris, but not everyone born with iris deformities have aniridia related to PAX6. Actually iris deformities from birth are also noted in some other congenital conditions involving genes such as the FOXC1, PITX2, etc.
Now, the other thing is some people may present to a clinic later on as an adult and they might have parts of the iris missing, but they weren’t born with it. It might have been something that was picked up because of injury, so either trauma or because of some surgical incident.
So when you see a patient with an iris defect, it isn’t always PAX6 aniridia.
And so that made us do some research. What we wanted to do was, actually, we wanted to learn more about aniridia in patients with the PAX6 mutation.
So we developed a database. We searched through the electronic and paper records at Moorfields Eye Hospital.
And having attended the genetics clinic and going through these notes, I managed to find 86 patients with PAX6 mutations. And we did an analysis.
We basically looked at every single patient from their first visit to our hospital right to the end, to the most recent, and we looked at what happened to them.
What was their vision at the beginning? What was their vision at the end? How many developed glaucoma, cataracts, aniridia-related keratopathy? All the very typical things that are associated with aniridia.
And in 2021, we published the UK’s largest PAX6 aniridia genotype phenotype study, which I presented last year. And last year when we presented it, we talked about the glaucoma, the cataract, and the aniridia-related keratopathy.
Now, one thing that we didn’t talk about last year, but actually I found very interesting as an ophthalmologist was that, in our database, out of 172 eyes of these 86 patients, 9 had developed a retinal detachment.
Now, a retinal detachment isn’t too surprising, because retinal detachments are more likely to happen in patients who’ve had intraocular surgery.
So if we are looking at a cohort of patients who have had cataracts and had cataract surgery, has glaucoma and has glaucoma surgery, noticing some retinal detachment is not too surprising.
But what was interesting was that over half of these patients with the 9 eyes had something called an exudative retinal detachment. And exudative retinal detachments are considered very rare. It’s not a commonly seen type of retinal detachment.
And it was something that struck me, because why are we seeing more of this type of exudative retinal detachment in our cohort of patients?
Okay, so first, going back a little bit, what is a retinal detachment?
So like I said, aniridia is a panocular condition. It affects the front of the eye right to the back.
And I suppose you can consider the retina the very back bit of it, because the purpose of the cornea and the lens is to focus light onto the photoreceptor layer of the retina, which is right at the back of it.
And the retina has a function in turning this image into signals, which goes to our brain and helps us form an image for us to see. And this retina has a very good blood supply because it’s very active.
Now, what happens in a retinal detachment is this layer of this retina, it starts separating from its underlying retinal pigment epithelium, which we’ll call the RPE, and the choroid, which is highly vascular.
And so, as you can imagine, as it separates, and if you leave it untreated, this retina will become ischemic, or lose its blood supply, and they’ll start damaging these photoreceptors, which is important for helping us to see.
So if you were to leave a retinal detachment, you can get loss of vision.
So retinal detachments, you can divide them into different types.
Rhegmatogenous is probably the most common one we see. And rhegma means tear, and what happens in a rhegmatogenous detachment is you get a tear in the retina. And fluid in the vitreous goes behind that tear and pushes the retina off. That’s a rhegmatogenous retinal detachment.
Tractional. So a tractional retinal detachment occurs when you have a tractional force on the retina. So these are more commonly seen in, say, patients with diabetes, for example, and you develop new vessels which fibrose and pull on the retina and cause it to separate from its underlying layers. So that’s a tractional one.
And then what’s least seen is probably an exudative retinal detachment.
So what happens in an exudative retinal detachment is for some reason you get accumulation of fluid in the subretinal space in between the retina and the RPE and the choroid, and that fluid builds up and causes the retina to detach. And it happens in the absence of a retinal tear or tractional forces, and that just separates it from the other two.
And in the literature, and actually from what we see in clinic, there’s lots of causes for exudative retinal detachment. The list is, I wouldn’t say endless, but it’s a very long list and includes causes like inflammatory conditions, infectious diseases, vascular conditions affecting the eye, even certain medications can cause it and tumours, etc. But aniridia isn’t one, when I looked in the literature, that’s normally associated with it.
And so when we looked at our patients, I wanted to find out, actually, is this something that’s interesting? Is this something that hasn’t really been talked about and is something for us to find out a bit more about?
So we looked a bit more closely at these 9 eyes from 6 individuals with PAX6, who had retinal detachments in our cohort of 86.
So these patients had nonsense, C-terminal extensions, intronic mutations and large deletions. So they had PAX6 mutations.
And 3 patients had bilateral retinal detachments, meaning in 3 of our 6 patients, both of their eyes developed retinal detachments. And in 3 other individuals, they had retinal attachments, but only affecting one eye.
And of note, because I mentioned right at the beginning that having retinal detachment in a patient with aniridia wouldn’t be completely something that I would not consider, simply because if you had intraocular surgery, you’re probably more at risk of developing a retinal attachment.
But actually, in our group, 6 eyes had prior surgery. So of our 9, more than half had had previous surgery.
But 3 eyes were surgically naive. So what that means is in 3 of these 9 eyes, a third of our eyes, these aniridic eyes had no previous surgery, and they still developed a retinal detachment.
And so that makes us wonder actually, is there something else that’s a risk for it?
Now, just of note, I mentioned, yes, previous surgery. All the eyes that had had previous surgery all had had cataract surgery, plus or minus a lens insertion.
Right, so the interesting bit.
So of our cohort of 9 eyes, 5, so just over half, had this rare type of retinal detachment. And 2 individuals actually had it in both of their eyes.
And it makes me wonder, is this actually because of their mutation? Because there is clearly something that’s happening in both of their eyes at the same time.
But at the same time, what was interesting was there was one individual who had a PAX6 mutation, but they had extensive unilateral exudative retinal attachment, meaning they had exudative retinal attachment in one eye, but the other eye, the retina was completely pristine. There was no tear, no traction, no detachment, nothing.
So it’s interesting how in 2 patients, they had extensive exudative retinal detachment. And in another, they had 2 very different looking retinas, despite having the same mutation going on.
And of note, just to completely document what we had, there was 2 other eyes who had retinal attachments, and 2 eyes where we know they had a retinal detachment type, but we weren’t really able to determine what type they had.
Now, when I looked into the literature to find out a bit more about exudative retinal detachment and aniridia, it’s actually very sparsely reported.
There’s been cases of exudation in patients with aniridia, but actually there was no PAX6 confirmation. So like I mentioned earlier, you can be born with a congenital iris deformity that’s not related to PAX6.
And so when I look specifically for patients with a PAX6 mutation and exudative retinal detachment on PubMed, there was only actually ever one case that I could find through my search.
And this was actually a study that looked at coats-like vasculopathy. So coats, this is the condition where you get exudative changes and can result in an exudative retinal detachment.
And they looked at patients with inherited retinal diseases. And in this group of 67 patients, they only reported one single patient with PAX6 and an exudative retinal detachment. And that was all I can find in the published literature.
So it was quite interesting that in our cohort, when we actually went through it and looked in detail, we actually found 5 cases that were there.
Now, there is a possible bias as to why we were seeing more of it. And I think that’s very important to consider.
Because exudative retinal detachment is not something that’s very commonly seen as a type of retinal detachment. And to be fair, some of these patients who came into our hospital were actually referred in because of exudative retinal detachment.
And so we might be seeing more cases of exudative retinal detachment because we are a tertiary centre where more complex cases may be sent to our department. Whereas more straightforward retinal detachments, like red rhegmatogenous retinal detachments, which I mentioned earlier, are more commonly seen, and probably more easily treated at a local hospital, local ophthalmology department, for example.
Okay, so I then wanted to find out, so yes, there’s an interesting thing that we found, which is this exudative retinal detachment in this cohort of patients. But why is it happening?
I’m going to be honest, I don’t actually know. Because if you look down into it, it’s more happening at a cellular level. And actually, I did a research on the patient’s notes, and we never really got down to the cellular level.
But I tried to look up what could have caused it. nAnd there are some things that I found, which is, well, as mentioned earlier, PAX6 is important in the early embryogenesis, so the early development of the eye. But also, once you’re out of the womb, postnatally, it’s also expressed in the retina.
So if PAX6 is involved in the maintenance and the function and health of the retina, could this be an area that we should be looking more into?
Another thing is that PAX6 is involved in expression of different cells in different areas of the eye, but it’s also involved in expression of adhesion molecules, which hold these cells together, and whether that in itself has a role in retinal detachment.
So further study on a cellular level will help us further understand this. But at the moment, I don’t know.
But what I do know is that we found something that was quite interesting and quite not previously reported much in the literature.
So what are the clinical implications?
Now that I’ve mentioned this, I don’t want everyone to rush off and actually, when you go to an appointment, to ask to rule out a retinal attachment, because these are quite rare. This was actually nine out of 176 eyes.
But it’s something for us as a clinician to consider. Because when we see a patient with aniridia, and we know they have a background of aniridia-related keratopathy, clouding of the front part of the eye, we know they have cataracts, and we know they have glaucoma.
And if this patient then tells us “our vision is getting a bit worse”, it’s very easy to attribute it to just say “Oh, your glaucoma might be getting a bit worse, your cataracts is a little worse, and your cornea is a little bit more cloudy, and that’s why your vision is poor.”
Because the aniridia-related keratopathy, the clouding of the cornea, and the clouding of the lens, actually makes it very difficult from a clinical perspective for us to actually evaluate and look at your retina.
So unless we use other means, so unless we purposely dilate if we need to dilate, if you’ve got only a partial iris defect, or unless we try to look at the iris, or we do something like an ultrasound scan, of the eye, we can miss retinal detachments unless we’re specifically looking for it.
And so from an aniridia patient and from a clinician’s perspective, if there ever is a mention of a sudden deterioration in vision, patients complaining of noticing lots of new floaters, flashing lights or shadows, I think those are good enough reasons in an individual without aniridia for us to really have a good look at the retina.
So if anyone does have aniridia and has those symptoms of retinal detachment, it’s worth flagging this up urgently to your care provider.
Right, so watch this space. So we’re currently writing this up as a case series, and hopefully we’ll get that published soon.
So we’re going to be the first case series on retinal detachment in molecularly confirmed PAX6 aniridia patients, with an interesting find of the high degree of patients with exudative retinal detachments. It’s an interesting finding, and there’s only been one published case I found in the literature.
My talk last year was on genotype phenotype, and in our study we found a slightly milder phenotype in patients with missense mutation. And in our case here, 9 patients, no patients had missense mutations.
So that was just another interesting thing we found. And whether there’s any correlation, there’s not enough data, but it’s just something that I noted.
Right, so that’s the end of my talk. It was a whistle-stop through aniridia and retinal detachment. And hopefully it’ll just give something for us to think about and for us to consider in the future. And hopefully we’ll get this published soon.
[Tierney] Thank you so much Vivienne, that was really, really interesting.
And I think it’s interesting for everyone as well to see and hear the method by which you guys actually go through the process of discovering new information. It’s quite an intense process and a lot of work goes into it.
So we’ve got a question in the chat here. Will you continue to work on aniridia at all once your study ends?
[Vivienne] Yeah, I aim to.
I mean, at the moment, I’m still writing a lot of papers, I’m hopefully trying to finish my postgraduate studies focusing on aniridia.
I don’t know what the future holds. I’m a trainee, so I’m running into my last year of training next year. And so it’s all the great unknown of where I’ll be, what I’ll be doing. And I don’t know where I’ll be in 2 years time, because my training ends.
But hopefully, my aim is to continue working with aniridia and learning more about it. But I don’t know where I’ll be.
[Tierney] Always the age old question, where will I be?
And so the next question is was the age of the patients a factor? And is this more common with age?
[Vivienne] Okay, that’s a good question actually.
Off the top of my head, I can’t remember, and I’m not going to be able to tell you because I’m presenting on a laptop whereas I normally work on a desktop, so I don’t have it right in front of me at the moment. But certainly, I know you well, so I can look this up and let you know.
But is age a factor? Normally, I would say, from clinical experience, as an ophthalmology trainee perspective, I don’t think so, because I see retinal detachment in all ages. Certainly, previous intraocular surgery is a risk factor for retinal detachment, not so much for exudative.
Is this more common with age in our cohort? I don’t know. But I can look this up and let you know.
[Tierney] Great, thank you. Are there any other questions from the group?
[Vivienne] Hopefully, once we publish this paper, it’ll be readily available for you to read all of it.
But I tried to compress it all into a talk that I hope wasn’t too… because I thought if I just talked about the numbers, it would be quite boring for everyone. I just wanted to talk about the clinical aspects of it.
But certainly, once we publish it, it’ll be readily available. But I don’t remember it off the top of my head, if I’m honest.
[Tierney] No, that’s fine. That’s brilliant work. Thank you so much, it was an enjoyable talk.
[James] That’s great, yeah. I have one question. Again, not related to the talk itself.
But, as you said, you’re a trainee. So I was wondering, what reflections you had on studying a rare disease versus others and how you felt that compared to your peers, maybe? What difference that made to your studies and education?
[Vivienne] It’s been an amazing experience actually. And I’m not just saying that because I’m giving a talk at an aniridia meeting. But genuinely, aniridia is something that I had no experience of.
I’d never met a patient with aniridia until I saw this research project that came about. And actually, that was my first encounter with patients with aniridia. And it was enlightening in the sense that it’s something I’ve only ever read about in our Oxford Handbook of Ophthalmology, and it mentions it on one little sliver of a page.
And actually, to then see patients with aniridia, and through doing the research that we’ve done to actually understand how it’s impacted them, it gives you a different perspective.
Because when you see a patient, some conditions you can just imagine, you can empathise. But actually, because aniridia is a condition that affects so many different… it’s not like going to a glaucoma clinic and seeing a patient with just glaucoma. But it’s actually a patient who has glaucoma, as well as so many other ocular comorbidities.
It makes you appreciate how difficult it can be, from a clinical perspective, to manage these patients, but also from their perspective, the impact of the condition.
So in terms of researching it, it was quite a good personal experience to learn more about the condition itself.
But it’s also quite different in that aniridia is not that common. So it’s not comparable to, say, a study on glaucoma where you have clinics full of patients with glaucoma. It’s few and far between, but I guess at Moorfields we see more of it.
But it’s been a good learning experience, and one that I’m really glad I picked up that email and replied and signed up to and got involved in.
[James] Well, we’re glad too, thank you very much. And yeah, best wishes for the rest of your studies.
[Vivienne] Okay, thank you.
[Tierney] Brilliant, thank you Vivienne, it was lovely to hear your chat.
Thank you to Glen for the video editing and write-up.
Professor Martin Collinson is based at The Institute of Medical Sciences in the University of Aberdeen, and has been working on the roles of the PAX6 gene in eye development and adult life for over 25 years.
He enjoys opportunities to make current research into aniridia and other eye conditions accessible to all those who are affected by or interested in the science of vision.
Martin is currently focused on understanding corneal health and the development of drugs that can prevent corneal opacity in aniridia, with the aim to develop eyedrops that prevent corneal disease.
He gave us an update on his work at our online conference on 27 July 2024. You can see Martin’s presentation in the video below, along with the transcript.
Transcript
[Tierney] So hopefully everyone’s had a little bit of a break, you’re feeling refreshed and ready for the second session of this conference, where we’re going to be started off by Professor Martin Collinson. He’s going to tell us about some of his great research he’s doing at the University of Aberdeen. So I’m going to hand over to you Martin.
[Martin] Hello everybody, thank you very much. Thank you very much obviously for asking me to present today.
What I’d like to be able to do for you is to describe some of the work that’s happening in my lab where we’re looking to develop therapies for aniridia-associated keratopathy.
This slide has a picture of the eye of somebody with aniridia and their experience and, if you can see, quite a severe corneal opacity.
And this is what we call aniridia-associated keratopathy, also called aniridic keratopathy or aniridia-related keratopathy, that’s all the same thing.
And as you’re probably aware this corneal opacity is a progressive condition that can happen in most people with aniridia to some extent as they get older.
The surface of the eye starts to vascularize, it gets blood vessels and can become inflamed and this can lead to loss of vision.
Not everybody will get the keratopathy as bad as this person here, but of course – and as we’ve heard earlier today – the lack of certainty about the extent to which keratopathy can affect people’s vision in the future is a very significant source of anxiety to both the people with aniridia and to their parents.
And what we’re trying to do in our lab is to be able to prevent this from happening, or in people where it has already happened potentially to reverse this opacity to maintain vision long into adult life.
Now for those of you who are familiar with aniridia keratopathy you may be aware that it’s treated as a so-called limbal stem cell deficiency.
This slide has a picture of two eyes. Top one is a healthy non-aniridic eye with a nice blue iris, and the lower eye is a vascularized inflamed essentially opaque cornea, due to a known limbal stem cell deficiency.
And to explain a bit of the background to this, the front surface of the eye, the cornea, is essentially a specialised skin, and just like for the rest of the skin cells fall off all the time, just through normal wear and tear due to abrasion, and they have to be replaced.
And our skin has stem cells that divide to replace the cells that are lost and so does the cornea. And you may be aware that the stem cells that maintain the cornea live around the edge.
The boundary between the blue bit on this side and the whites of the eyes has a population of stem cells that are dividing all the time, fairly slowly, to replace the cells that have been lost.
And in people where these limbal stem cells don’t work, either because of disease or injury – alkali burns for example – the surface of the cornea can’t be maintained, cells are falling off but they’re not being replaced properly, and you get the sort of opacity and vascularization that you see in the bottom eye here.
And this looks very much like aniridia-associated keratopathy. And historically the condition has been treated as a limbal stem cell deficiency and many people with aniridia end up getting limbal stem cell transplants from non-aniridic individuals.
And these can help with the maintenance and vision for a few months or even years, but they’re not a permanent solution.
In order to study aniridia we’ve been using in our lab a strain of mice that has PAX6 mutations like people with aniridia do.
Not everybody is totally comfortable with the idea of using these mice. But these are perfectly happy healthy mice. But just like people with PAX6 mutation they do have all sorts of changes to their eye.
So there’s two mice on this screen, the one on the left is a normal healthy mouse with big bright eyes, and the one on the right is a mouse with aniridia, it’s got a PAX6 mutation. You may notice its eyes are smaller, it’s the so-called small eye mouse.
We’re not bothered about the size of the eyes, what we do like about these mice is that they have aniridia, they have lens cataracts and they have a kind of progressive keratopathy.
The cornea, the front surface of the eye, goes cloudy over time as they get older and it really very faithfully recapitulates the human aniridia-associated keratopathy symptoms.
So I’ve had PhD students and other people using these PAX6 mutant mice. We’ve spent pretty much 20 years working out what the link is between PAX6 mutation and aniridia keratopathy.
And we’ve had students asking the questions, is this really a limbal stem cell deficiency? And as with most things in science the answer is maybe but maybe not.
And here’s a little cartoon of some experiments that a PhD student of mine did. There’s little cartoon mice. The mice in the top row are normal wild type mice and the mice in the bottom row are small eye mice with a PAX6 mutation.
And what one of my students did, we put the mice under a general anaesthetic and she gave them a little scratch to the surface of the eye.
The idea is that limbal stem cells are meant to respond to eye wounding by making more cells to replace those that are lost.
And in a normal wild type mouse that’s what happens if you scratch the surface of the eye.
Within 24 hours you’ll see this mouse has got one yellow eye, which we’ve used to represent activation of the limbal stem cells.
So we can see the limbal stem cells dividing at high rate in response to a corneal wounding, and after 48 hours the limbal stem cells in both eyes have activated. They’re really dividing as fast as they can to repair the injury.
We’ve already seen that PAX6 mutant mice do have limbal stem cells and they do divide and when my PhD student was able to wound the eyes of these mice, again just gave them just gave them a tiny little scratch to the cornea under anaesthetic, the limbal stem cells, they do wake up after 48 hours, they respond to the injury and they’re dividing to produce more corneal cells.
But the difference was that they took longer to do it. After 24 hours there was no response for the limbal stem cells. So there is a deficiency here. It’s pretty mild.
People and mice with aniridia do have limbal stem cells. Those stem cells can divide, but they take a little bit longer to respond to injury.
And the question is can that explain the whole problem with the cornea going opaque in aniridia? And we believe the answer is no.
This slide again just shows another person with aniridia-associated keratopathy, with blood vessels growing into the cornea and a big opacity in the cornea.
And the reason why this is happening is not because these people don’t have limbal stem cells. There’s much more going on.
There’s a whole lot of things going wrong in the corneal epithelium itself, and this is really what we spent 20 years trying to work out what the problem was.
And rather than give you a summary of 20 years of research, I’ll just describe briefly what the conclusions were.
And the problem essentially is that the PAX6 aniridic cornea, the surface is fragile. The cells don’t hold together as well as in normal non-PAX6 deficient corneas and what that means is that the cornea gets small lesions, small holes in it.
This is a figure that I lifted from an old paper and it’s not too important, but what four of the panels here are showing are scanning electron microscopy. So really clever imaging of the surface of the cornea.
And the first two, the top two panels, are really boring. It just looks like nothing really, because these are normal healthy wild-type corneas and they’re lovely and smooth and there’s nothing to see.
But the lower two panels C and D show corneas with holes in them, and these are from the aniridic mice. So cells are being lost too fast, because the cornea is fragile and it develops holes in it. And because of that it doesn’t really form an effective barrier to the outside world.
I don’t know if any of you at the ophthalmologists have had… they use fluorescein, a sort of fluorescent green dye, to determine whether the surface of the eye is healthy or not. Because a normal healthy cornea won’t take up fluorescein dye, whereas one where the epithelium is lesioned, it will.
And I don’t know if you can see down here, this is a section for a mouse cornea, all the cells are blue, and there’s a little stripe of green at the top where we’ve put fluorescein on the cornea, but it hasn’t penetrated.
Whereas this is a normal healthy mouse and this is a PAX6-deficient mouse and you can see that the yellow dye has spread throughout the whole cornea, that it’s no longer forming a barrier.
So this is essentially the problem with aniridic corneas. They don’t form a proper barrier to the outside world because they’re fragile.
So stuff gets in, and it’s not normally fluorescein, but it can be oxygen, noxious agents, dust, viruses, fungi, all sorts of things that are bad for the cornea that the cornea normally keeps out. but the aniridic cornea is just slightly less efficient at doing.
We came up with what we call our triple whammy model of aniridia pathology and it’s summarised in this diagram on the right here.
And at the top in blue is the start of the process, a PAX6 deficiency. So people with a mutation in one of their PAX6 genes, that means they don’t have as much PAX6 as normal.
And down at the bottom is the outcome corneal opacity. The cornea is no longer fully transparent and people start to lose vision.
And in between are the things that we think goes wrong. And it’s summarised on the left in the yellow writing with the so-called triple whammy model.
And whammy 1, as already explained, is the corneal epithelium in aniridia is fragile, and it loses its ability to act as a barrier to the outside world. So it’s under stress. Oxygen gets in, pathogens get in, and the cornea is under stress.
The second whammy, which I haven’t mentioned yet, is that normally when tissues are under stress, they produce protective enzymes that stop that stress from damaging the tissue.
And for a number of reasons aniridic corneas have lower levels of these stress responsive enzymes. So they are more stressed. They’re suffering more stress and they produce less of the enzymes that respond to that stress.
So that’s what these two yellow boxes are showing here. We have a fragile corneal epithelium with less of the protective enzymes that it needs, and this leads to increased stress. Proteins get oxidised that shouldn’t be oxidised, all sorts of cell sickling happens that shouldn’t be happening.
And this leads to a kind of chronic wounding state, even in the so-called healthy aniridic cornea. It’s constantly developing holes and then healing those holes, and then getting more holes and healing the holes again. It’s constantly in a wound healing kind of state.
And this leads to two things, one of which isn’t obvious, that it effectively reduces the amount of PAX6 that’s available.
Because PAX6, as you might know, is a gene, it’s a protein that controls the expression of a whole pile of other genes.
So it’s a DNA binding protein and DNA is in the centre of the cell in the nucleus But what stress does, and it’s one thing that we showed, is that it drives the PAX6 out of the nucleus.
So even the PAX6 that’s there in the cells can’t do its job properly, because it doesn’t get access to DNA.
So that’s what these arrows pointing backwards are showing. It exacerbates the PAX6 deficiency.
And because of the constant chronic wound healing state eventually the cornea becomes vascularized, blood vessels grow in that shouldn’t be there, it gets inflamed, water gets in, it disrupts the structure of the cornea, and over time you get a corneal opacity.
So this is 20 years of work that we have spent trying to work out why a deficiency of PAX6 leads to corneal opacity at all.
The question is, that’s very nice to know, but what do we actually do about it?
And our vision is that when a person has aniridia, we want to be able to give them therapies, eye drops or something similar, that will prevent this triple whammy model from taking effect, and will break the link between PAX6 deficiency and corneal opacity, such that good vision can be retained late into our adult life and at best for the rest of your lives.
And we’ve taken two strategies by which we’re attempting to do that. One of which, the left hand side here, is direct antioxidant therapy.
So if the problem with the cornea is oxidation and stress, then there are chemicals we could use to reduce that stress.
And the other kind of obvious strategy, the second one here in yellow, is the restoration of PAX6 activity, so as people with aniridia are deficient in the amount of PAX6 you produce, so can we restore that back up to normal levels?
And what the next slide is going to show is three streams of research that we have been undertaking to try and address these problems.
And number one on the left here is talking about two drugs that are in the public domain has been published as increasing PAX6 dosage in the eye.
One’s called duloxetine and one’s called ritensarin, and they’ve been shown in tissue culture, in the lab, in cultures of eye cells, that they can increase the amount of PAX6 that is produced by cells. And I’m going to describe some work that we’ve done putting these drugs into aniridic mice, to show what they can do.
The second stream in the middle here is something I’m not talking about too much about today. But those of you who’ve been involved with the aniridia therapy scene may have heard of a drug called ataluren, which is a type what we call a read-through drug which allows cells to ignore mutations in PAX6.
So even if you have one copy of the gene is mutated, within the presence of so-called read-through drugs the cells will ignore that mutation and produce normal PAX6 anyway.
And there is a drug called ataluren that has been one of these read-through drugs and it’s been trialled for aniridia. It didn’t really do a lot of good.
Nevertheless it’s not the only read-through drug out there and we are testing a whole pile of other read-through drugs to see if they can help people with aniridia.
And the third stream on the right here is the development of antioxidant therapies that will allow aniridia corneas to just get out of this vicious cycle of perpetual wound healing, to be able to sort of calm down and allow the regenerative capacity of the cornea to be restored, such that the loss of opacity doesn’t occur.
And what’s crucial about these three research streams is that we’re not coming up with new drugs.
What we’re doing is finding approved drugs that are already being used to treat people for other conditions. Like duloxetine for example, on the left here, is a known safe antidepressant.
And we’re saying we’re taking these drugs that already we know they’re safe to give to people, we know that they’ve passed clinical trials for other things, but we’re asking can they help people with aniridia?
And by taking this strategy, what we’re hoping to be able to do is to accelerate the process of identifying a drug that helps with aniridia, can be taken to through clinical trial and given to people, in the minimum amount of time.
Because as you’re aware with vision loss in aniridia, time is critical, and there are thousands of people out there that could benefit from a therapy, whose eyesight is frankly not getting any better. We want to minimise the amount of time that it takes to get drugs to helping people with aniridia.
So I’m just going to do a bit of science. I’m going to describe an experiment that we did last year actually, where we gave normal mice – so here’s our two friendly mice again, the one on the left is a normal wild type mouse and the other is one with a PAX6 deficiency.
And we gave them the drugs, these two drugs duloxetine and ritanserin, together in their drinking water for four weeks. And we monitored their eyes during the process, we also monitored the health of the mice to make sure that it wasn’t causing them any harm or side effects.
Like I said, duloxetine is an anti-depressant, ritanserin is an anti-psychotic, these are quite powerful brain drugs. But the dose was very low and we put these drugs in the mice’s drinking water.
And so did their eyes get better? And the long story short is that yes, they did.
On this slide here we have some mouse eyes. Mouse eyes have all the same bits as human eyes, but they’re not nearly as pretty really. And they have black irises and they’re much more like footballs.
Because whereas we are looking at things that are very far away, mice are basically looking at sunflower seeds that are very close to them, so they have a different shape eye. But otherwise their eyes are like ours.
And at the top of the screen here there’s two wild type mouse eyes, lovely and shiny, lovely and clear, a nice big black iris.
And bottom left here is one of the aniridic mice and it still has an eye obviously, but there’s severe loss of the iris, so iris hyperplasia or aniridia, and the surface looks a bit rough.
And they’ve had fluorescein treatments, so it’s yellow because this fluorescein has penetrated the eye in a way that it didn’t with the wild types. And you can see there’s a bit of a scar in the lens maybe.
And this is the heterozygous mice that didn’t get the drugs, these just got the controls and this is a normal aniridic mouse eye with lots of problems.
And this is an aniridic mouse eye that got the ritanserin and duloxetine combination therapy. And I hope you can see it’s better.
The iris doesn’t grow back, I mean that’s gone, there’s nothing we can do about that. But the surface of the eye looks nice and smooth, the barrier function has been restored so it doesn’t take up fluorescein very much either.
And essentially this mouse with the duloxetine ritanserin therapy has better vision than this mouse that didn’t have it.
Here’s some science of it.
One, these are tissue sections of the mouse’s corneas, and we’ve labelled the PAX6 protein fluorescent green so we can see it.
And top left is a wild type cornea, and you can see there’s a streak of green cells that has the normal levels of PAX6.
And this down here bottom left is a heterozygous, so PAX6 deficient cornea, and if nothing else you can see that there isn’t as much green in these cells as there is above, because these guys don’t have as much PAX6.
But going to bottom right, the heterozygous mouse after treatment, they have much more PAX6 in their corneas. So the drugs seem to be working, they’re increasing the amount of PAX6 that the cells can produce.
Another science bit, there’s two things on this graph, one of which is a tissue section through the cornea. And you may be able to see that in the epithelium here there are some bright pink blobby cells. They shouldn’t be there. These are conjunctival cells.
So one of the problems with aniridic corneas is that the epithelium with the whites of the eyes, the conjunctivum, starts to encroach onto the corneal surface, and it’s not transparent, and it’s vascularized, and that’s bad.
So what we want to do is to prevent this conjunctivalization from happening. And this is what this histogram on the right here is showing. Basically, the bigger the bar, the worse it is.
And we have control mice with no conjunctival cells, with or without drug. And this is an aniridic eye from the mice and they all have conjunctival cells. But after drug treatment it’s been reduced, so less than half of them now have conjunctival cells.
So within four weeks we’ve managed to push the conjunctivalization of the aniridic corneas backwards, just by giving the mice these drugs in their drinking water.
And that’s lovely and everything, but I’ve already said that these drugs are powerful. Duloxetine is a powerful antidepressant. ritanserin is a powerful anti-psychotic.
Our vision, as it is, is that when a baby or a young child is born with aniridia, we can start giving them drugs that will prevent the deterioration of vision. But we can’t be giving babies and young kids powerful antidepressants just for the ocular effect from the eyes.
What we want to be able to do is to develop eye drops, so that kids aren’t getting a systemic dose of these powerful drugs. They’re getting just a very small topical dose delivered right to where it’s needed to the eye.
We’re not as far on with these experiments, but we are doing a series of experiments where we give the mice eye drops.
So mice with aniridia, PAX6 deficient, twice a day, putting a little blob of gel in their eyes that contains either nothing – the controls – or that contains duloxetine and or ritanserin. And this is an experiment where we did it for two weeks.
Again, aniridic mouse eye on the left looking a bit rough. This is a control. Aniridic mouse eye on the right that’s had duloxetine ritanserin eye drops for two weeks.
And I have to say it doesn’t look like there’s a massive difference. It hasn’t been as effective as the drinking water was.
But we do all sorts of analyses on these things and we showed that it’s not doing any harm, that cell division is normal, that the gross health of the eye seems to be improved a bit, but not massively. And we can look at gene expression in these things.
And this is the last science slide here. And it’s kind of backwards. We’re looking at the thing on the right first. In this graph here, the higher the bar, the better.
We’re looking at an expression of one of the proteins that holds the cornea together. It’s called cytokeratin, it’s one of the proteins that stops the cornea from falling apart.
And normally in people with aniridia the cornea doesn’t produce as much of this protein, it’s one of the reasons why it’s fragile.
And this is a healthy mouse eye and it’s producing loads of the stuff, a big bar.
And the control aniridic eye still produces some keratin-12 but not as much as it should. But after eye drop therapy it goes right up back to normal.
So using these eye drops, we’re restoring normal levels of expression of one of these key proteins that stops the corneal surface from breaking up.
The left hand side of this science slide is something that I haven’t really talked about yet, but these are using antioxidants.
So giving the aniridic mice have antioxidants in their eye drops, does it reduce the stress? Does it put out the fires that the aniridic cornea is normally fighting? And the answer is to some extent yes.
So in this graph, the lower the better. And because this is an aniridic cornea with lots and lots of stress… a wild-type, a normal cornea, would have virtually none, it would be down at the bottom somewhere.
And an aniridic eye that we’ve given antioxidant drugs to, the stress is reduced and the cornea is calming down, and we’re hoping that will give it time to heal.
So this is where we are at the moment. We still have quite a lot of work to do. But I’m gonna stop and I’m gonna summarise essentially where we are.
So on this slide we have our conclusions.
And on the left is a piece of artwork we did which describes the process of working on aniridia. And it’s some sort of science-based Sisyphus pushing a giant transgenic eyeball up a big hill, and every time he thinks he’s made some progress he wakes up next morning and finds that the eyeball is back down at the bottom of the hill. And he’s in a landscape of inflamed eyes.
But the essence of what I’ve been talking about is that we are trying to develop eye drop therapy that can be given to people with aniridia to either prevent the corneal opacity from ever happening, or in people where it’s already happened to stop it or to reverse it.
And in order to do that, we are testing, we are using drugs that are already approved for something else and asking the question can they increase PAX6 dosage? Can they improve the health of the of the aniridic eyes?
And we’ve shown that two of the candidate drugs that are already in the public domain, duloxetine and ritanserin, are really quite effective at improving corneal phenotype, the eyes of mice.
And we are testing new versions of the drug ataluren. So again many of you will remember there was a drug called ataluren which has been used in clinical trials for aniridia. It hasn’t really been very effective and we’re looking at a whole panel of things that might be better versions of ataluren.
We’re actually quite excited to find that antioxidants can be quite effective at reducing the stress within the aniridic corneas, because these are very widely available and they’re not even drugs. You can very easily dose up on antioxidants and it may well improve the phenotype, the symptoms of the cornea over time.
And so there’s lots of things to be optimistic about. But as always with these things there are lots of caveats, lots of questions and lots of work still to do before we’re at a stage where we’re seriously proposing putting these drugs in aniridic eyes.
I have to thank some people. So on this slide, this sort of great pancake here, is an aerial view of Aberdeen. It’s not the most inspiring looking place in the world, although it’s nice and sunny today I have to say.
We’ve been funded by Medical Research Scotland and the NHS Grampian Endowment Research Fund to do this work, so we are making some clinical backing for this work, although as always we’re short of cash.
And quite a lot of the work that’s described today wasn’t done by me, because I just sit around drinking tea. It’s done by the postdoctoral person here. This is my lab. I tried to take a photo, but it went as well as you might expect.
But most of the work has been done by this person here, Kaya Kostanjevec, with Yakup Yilderim, Tereza Senfeld, Solène Moreira (who’s not on this slide), Anouk Cohen-Solal and Yvonne Brown. And of course we’re all based at the University of Aberdeen.
So I’m going to shut up. If you have any questions about the work, I’ll be very, very happy to take them.
[Tierney] Thank you very much Martin, that was really, really interesting work.
So we do have some questions in the chat and the first one is can you give some insight into the efficacy of the existing eye drops that many aniridics already take?
[Martin] I’m not an expert in this, but I mean eye drops that people with aniridia take will be primarily aimed at protecting the surface of the cornea.
So prevention of dry eye is really important, making sure that the corneal surface is moist.
Obviously people may be taking anti-glaucoma drugs as eye drops and that’s very effective, there’s no problem there.
But there really remains no treatment that prevents the underlying causes of why aniridia-associated keratopathy happens in the first place.
So generally looking after the eyes is obviously a good thing. But there’s no therapy currently that for example increases the PAX6 dosage in the corneas. Everything is aimed at the symptoms and there’s nothing really associated with the causes.
[Tierney] Yeah, I think there’s quite a lot of issues at the moment, in terms of having that preventative treatment over dealing with the issue once it’s already there.
We’ve got a question with regards to what are the levels of the dosage regarding the drugs that you’re using, compared to the dosage they normally are related to for their antidepressant and antipsychotic roles?
[Martin] The good news is that it’s much smaller. They are much more effective at increasing PAX6 dosage than the dosage that they are given as antidepressants.
If you scale down the human dosage to what a depressed mouse might for example get, then the dosage we’ve been given to improve the eye phenotype is about a quarter of that.
That still does have a subclinical effect though. And although it’s probably safe to give kids duloxetine at a very low dose, one of the real reasons which we’re developing eye drops is to avoid that systemic dose.
If you give people the drugs as eye drops it goes straight to the target and the systemic dose that they get across the whole body will be essentially undetectable.
So the summary is that it’s a very low dose, but even so we’re trying to minimise it as much as possible, such that there’s little risk of non-target effects.
Because clearly if we develop some eye drops then the idea is that people will be taking them for their entire life, so we have to be really careful that there’s no side effects.
[Tierney] Yeah that makes sense, thank you so much.
So next question, they said you’ve done some amazing work over the last 20 years to get to this point. How long would you guess before it would be potentially available to patients? How much more work is involved?
[Martin] That’s always the million dollar question isn’t it? So we work closely with some patients and they ask the same thing.
I wouldn’t be doing it if I didn’t think we could get something within the next two or three years. That’s the target, maybe even less.
I mean, I’ve got a PhD student starting in October whose job is to start to try to take these things to clinical trial. So we’re optimistic that we can do things quickly.
But, you know, I’m very old now, I’ve had lots of disappointments in my life, and I don’t want to give people false hope that there’s something just around the corner. Unexpected things may crop up and there may be a delay.
But so far the signs are very good and we’re very hopeful that we can get something going within a couple of years.
[Tierney] Brilliant, I’m sure we all have our fingers crossed that your work goes smoothly. But yes, there’s always trials and tribulations to work through.
One of the last questions we’ve got here is do you hope that this approach might be able to actually reverse current keratopathy damage that’s already occurred in the future?
[Martin] We’re really hopeful that it can.
One of the things that not just us but lots of scientists have shown in the last 20 years is the cornea has tremendous powers of regeneration, and that if you give it a chance it will repair.
And the problem at the moment for people with aniridia is as the opacity develops the cornea is being overwhelmed beyond its regenerative capacity.
If we can increase that, give it a chance to regenerate by reducing the stress or increasing its PAX6 dosage, there’s every reason to hope that existing damage can be reversed, that we can make the blood vessels go back and give the corneal structure time to repair. I don’t see any reason why that can’t happen.
As with all human conditions, I think it’s going to be better to catch it early and stop it from happening, than to try and reverse it once damage is done.
But I’m very optimistic. I believe the power of eyes to regenerate has been shown lots and lots of times, that the cornea is a tremendously adaptable and strong tissue. And I see no reason why we can’t restore vision in people that have already started to lose it.
[Tierney] Brilliant, thank you so much Martin, I’m sure we’re all very intrigued and can’t wait to see what happens to your research over the next few years.
I think we’ve got one final question here that’s just popped up. So in regards to antioxidants, are we referring to over the counter and contributing of good diet?
[Martin] Yeah, I’m very tempted to say that eating a good diet can’t be a bad thing, because a good diet is never a bad thing I guess.
What we’ve been looking at is there are some over the counter antioxidants, eye drops, that people get for various inflammatory conditions. And we’ve been not using them, but we’ve been using some of the components of them.
So the reason we’re not using over the counter medications is that they’ve been reported to be quite irritating for the eye, that they sting a bit when they go in, and to try and persuade kids to do that. But also because the aniridic cornea is fragile, we don’t want to cause anything that’s going to be an extra irritant to it.
So we’re looking at over the counter antioxidants, but we’re trying to see what we can do with them that makes them safe for aniridic eyes. Because at the moment I’m not totally sure they’re a fantastic idea for people with aniridia.
[Tierney] Brilliant, thank you so much Martin.
Thank you to Glen for the video editing and write-up.
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.
[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.
Through her career in education as a Special Needs Coordinator and Senior Leader, and now in her current role as a QTVI, she has developed a special interest and expertise in aniridia, and has 2 primary school age students with aniridia on her caseload.
At our online conference on 27 July 2024, she spoke about her work in the Vision Support Service, including the referral process, how they assess functional vision for students with aniridia, and some of the recommendations they make such as assistive technology and modification of resources.
You can see the video of her talk below, and the transcript is provided beneath.
Transcript
[Tierney] All right, hello everyone. Hopefully you can all hear me. We’re delighted to have you here for 2024’s Aniridia Conference. We’ll pretty much jump in and get started. We’ve got some great talks today, so hopefully there’s something for everyone. And I know I’m certainly looking forward to hearing all the talks.
First up, we’ve got Gayle Johnson. So I’ll hand over to you, Gayle, to introduce yourself and your topic.
[Gayle] Hi everybody. I’ll just start my presentation because it’s got a little intro to me at the start. So thank you to Tony and James for inviting me to the conference today. It’s a privilege to be able to talk about my work to everyone who’s attending.
So a quick summary about me. My name’s Gayle Johnson. I’m a senior qualified teacher for vision impairment and I work in Dorset Council for the Vision Support Services. I’ve currently got about 80 children with vision impairment on my caseload.
I’ve got two primary age children who’ve got diagnosed aniridia. I’m based in the picturesque south coast of England, which is very sunny today. So I cover the regions of Dorset, Bournemouth, Poole and Christchurch.
And then my background is in education, where I’ve enjoyed some time as a special needs coordinator and senior leader. And I developed a special interest in aniridia. So I’m here today because I’m always interested to learn new information about aniridia. So I’m pleased to be joining your conference.
So this is what I’d like to talk about today and the areas I’ll be covering. So the slide’s got a picture on there of a young person making a lovely Christmas tree. That young person has got aniridia, and he’s one of the students I was talking about. His picture will appear throughout the presentation.
So today, I’m covering the referral process and guidelines. So this is how we work and how I work. The assessment and how I assess functional vision of young people, and the importance of specialist support. And that’s where I’m going to give some recommendations about resources and strategies for young people that we’re currently using, especially for those students who have aniridia. There’s time at the end for questions as well, if anything crops up.
So this slide is about who we support. So the question is who do we support? So we support babies, children, young people who are diagnosed with a vision impairment from birth to 25 years old. And some of you might have heard of a thing called an Educational Health Care Plan. So we support children who have or have not got an Educational Health Care Plan. If they haven’t got an Educational Health Care Plan, we support them until they’re 18. If they have got one, we carry on supporting them until they’re 25 years old.
So referrals can be made at any stage. For example, we work with children from diagnosis, which is often within the week of their birth, or even before they’re born, if an eye condition is identified and confirmed through a prenatal scan. Although that is relatively uncommon, it has happened. Usually referrals are made after a baby’s had based had vision checks in hospital.
But just to say that my presentation is representative of what we’re doing in Dorset, it might be slightly different around other parts of the UK. But generally, most sensory services do work in a similar way to us.
So who are we in Dorset? So the slide here has got a picture of some little Lego people, which I thought you might like. So just to give you an idea of our structure. This structure is very similar in other local authorities, councils and boroughs around the country.
So this is the list of who we are. Quite a small team. So we’ve got the Qualified Teachers for Vision Impairment, I’m one of those. We have Qualified Mobility and Habitation Specialists, got two of these currently working in the team. We’ve got a Specialist Technician, so a person who helps us with our modification of resources and technology. We’re also very lucky to have a Specialist Teaching Assistant who comes out to help us teach skills to our young people. And we’re also very lucky to have an excellent Touch Typing Tutor who teaches children how to type without looking at the keys.
So Vision Support Services are part of a bigger, wider team called Sensory Services in Dorset, and we’ve got a hearing impairment team who also works alongside us. We come under an umbrella called Educational Services. So we’re not part of Health or Social Care, we’re part of Education.
As I said earlier, I’m lucky to work in Bournemouth, Christchurch and Poole. And we work very closely with Bournemouth, Christchurch & Poole and Dorset Council. We’ve got a joint arrangement service with them.
All of our work aligns with the Department for Education and official guidance, and that supports us in the level of support that we provide. All the Qualified Teachers for Vision Impairment, including myself, have completed a mandatory postgraduate qualification, which takes two years. And all of our teachers are also qualified to teach braille, up to unified English braille to grade two, and all our qualified teachers are also mental health first aiders.
And I just thought I’d add that if you’re interested or living in an area that’s not in Dorset or BCP, if you wanted to find out information about your services, I think the RNIB would be one of the better places to access that. If you go on to the RNIB website, there is a helpline number, if you wanted to find out what’s happening in your local area.
So the next slide is about how our referral process works. It is a flowchart, I’ll just read how it flows. So we start off, the very start of a referral process is actually identifying the need. So has the child or young person got an identified and recognised vision impairment? To find out a bit more, we would ask them to seek medical advice to get that confirmed.
And then we move on to completing the Vision Support Service referral form. After that’s completed, we would ask for some medical reports to go with the form. Then that form is submitted. And we look at the form and review it. And then we decide whether it meets our criteria, we will move on to visiting the child or young person.
And after that, the flowchart carries on to us completing Functional Vision Assessments, which I’ll talk about a little bit more in a few slides on. And then we plan our provision and decide how we’re going to support.
So these steps outline the systematic process that we have for identifying and addressing educational needs for babies, children, young people, like I said, up to age 25 with vision impairments, and particularly with aniridia.
So when we get the medical advice, that guides us as to what the needs might be, we gather all that information together. And as I said, we will visit and conduct some Functional Vision Assessments, so that we can understand how that vision impairment is impacting on the young person.
We use something called the NatSIP criteria, which I’ve got a slide for in a moment. So that ensures that we are providing a fair and best practice service. And that guides us with how often we would go and visit the child or young person. If they’re a baby, then I might go visit them every fortnight.
So this slide has a picture of our lovely website. So it’s the Dorset Council website. And on that website, we have our request for our service referral. I think it’s quite good actually. So it’s fairly recently that we’ve gone digital. So we still accept referrals by email, a form that’s filled out. But generally, it’s been really successful and streamlined and sped up our request by having an online referral.
So the picture there has a yellow button which, if it was the working website, you would click on to start your referral. So we take referrals to our service from NHS professionals, from the families / parents themselves, from mainstream / special schools, if there’s concern there, colleges, other settings like preschools, and lots and lots of other agencies as well.
So within Dorset we have Special Needs services, something called Portage, or their Best Start in Life services, they might refer to us. Fostering Services and Social Care might refer to us as well. So there’s lots of people who can access our referral.
The Dorset criteria for support for young people who would have aniridia is that, like I said earlier, they must have a diagnosis of eye condition confirmed and a vision acuity. And I’ll talk about vision acuities and what the numbers mean, if you’re not sure. But if we were testing their vision acuity, their acuity would be around 6/18 on the Snellen chart, and that’s for their distance and their near vision. So that would assess them as having a moderate vision impairment.
So once the referral’s completed, we aim to call or contact the family within 24 hours of receiving the referral. And that’s when we talk about what we can offer and arrange a visit. And normally, that’s a really nice conversation to have with parents and families, they’re normally very, very grateful to hear from us.
I mentioned earlier on NatSIP guidance and guidelines. So this slide has national guidelines we use. It’s called NatSIP, So this enables our service to provide what we call an equitable, so equal access, allocation of our resources. So everyone gets a fair chance to have the services we provide.
And also, it’s a starting and ending point. So we assess is the service required? Yes, carry on. If it’s not, then there’s an exit criteria as well, so we can reduce the amount of support or dismonitor. We provide a means of identifying the level of support required. Like I said earlier, sometimes our support will be every week, sometimes it will be monthly, sometimes it will be twice a year.
So we assess on the need of the child, how often we’ll be supporting. And then it provides us the means of justifying our allocation of support. It’s based on Department for Education legislation, and it’s underpinned by the Special Educational Needs and Disability Code of Practice.
So these are all very meaningful and legal documents and statutory requirements. So it is a statutory requirement for a local authority to provide a sensory service like ours. So we’re affiliated to the NatSIP partnership, which is good. It ensures that we’ve got quality standards and they’re maintained correctly.
So, like I said earlier, if you wanted to know a bit more about your local authority and how they’re working, I would get in touch with the local authority sensory services or contact RNIB.
I mentioned Functional Vision Assessments on that flowchart. So once we’ve visited a child, we will look at how their vision is working for them. So what does it mean by Functional Vision Assessments?
So as a Qualified Teacher for Vision Impairment, one of my roles is to assess and provide advice and recommendations about how vision is working. And that’s called functional vision for children, especially with aniridia. We’ll explain those a little bit more.
So this slide has Functional Vision Assessments explained in the title, with the little picture there of some children, and they’re trying to look through their fingers, I think, three children there.
So typical vision function tests assess what the vision is like, the quality of the vision, the accuracy of the vision, that’s called visual acuity, the contrast sensitivity of the vision, how the colour vision is working, and how the field of vision is working. These are all part of Functional Vision Assessment tests.
So a Functional Vision Assessment, I haven’t mentioned this, but it’s not actually a clinical examination. So I’m not a qualified doctor or an ophthalmologist. That’s why my my testing is only functional, it’s not clinical. And we don’t use eye drops. And we test the young person in a familiar setting, and explain the results in simple terms to the child, so they can understand, the parents and teachers and other services. So yeah, functional vision is different to clinical vision assessments.
When we do the testing, the child wears their glasses if they have prescribed glasses. And it’s helping us to understand how that vision is working in their everyday life. I think we’re really lucky, because we have the opportunity to test children and young people in a familiar environment, which actually helps us to get quite good results.
It can be quite nerve-wracking, anxiety-inducing and upsetting when children go to hospitals, for some not for others. But I think we’re very fortunate when we do the testing at home that the children are feeling happy and comfortable there.
Before the age of 18 months, most of our Functional Vision Assessments if a child had aniridia would be through observations, looking at the eyes, how they’re moving, watching the child, how are they moving, how are they playing, how are they using their hands, all through observation.
We also use something called the Developmental Journal for Vision Impairment, which is a set of booklets. It’s a fantastic resource that we really enjoy using, and it’s widely used across the UK. And it helps parents to track and understand the development of the child and their vision.
So the next slide I’m going to show you explains a bit more in detail about some of the Functional Vision Assessments we do in Dorset. So examples of assessments that we do in Dorset, they are standard assessments. The slide there has got the list. Kay Pictures, iSight app/charts, the Malure Reading Test, the Snellen chart, the Ishihara Colour Test. And as I said, we do lots of observations, particularly of younger children.
Some pictures on the slide. So we’ve got the Snellen eye chart, which is a letter chart, which has a big capital E at the top. And then to the right of that, we have the Ishihara Colour Test, which is like coloured blobs. They have a number which is hidden within the colours, a different colour number, contrasting to the colour surrounding it.
And then below that, to the left, we have the Kay Picture chart, which I’ll talk about in more detail at the moment. And then a picture of somebody holding a pen torch with a monster on top, which is also part of the functional testing, which I’ll explain as well.
So most people are probably most familiar with the Snellen chart, which is the letter chart. It’s a commonly used piece of equipment to test their vision acuity and you’d have it when you go to the opticians or to the ophthalmologist. So it has rows of letters of varying size, and we ask the child to read down the letters if they know the letters.
If they are not ready for the letters, then that’s when we use the pictures. So we have something called the Kay Picture test. It’s also used in hospitals for ophthalmologists, for younger children, to assess their near and distance vision. The test consists of six pictures, which is a boot, a star, a house, an apple, a duck, a car, of varying sizes. And they’re used instead of letters, as I said, up to the age… well, it can go up to when they start school, it starts approximately when they’re about 18 months old, they can start to use those pictures.
And part of my role is to help the children to learn the pictures. So I use real objects and games to help the children identify what those pictures are on the test. I’ve got a little tiny welly boot in my kit, which we play and use to help the children to learn the understanding of those Kay Pictures. And it prepares them for their visit to the ophthalmologist, And I’ve had some nice feedback from the families that that’s really helped.
When a child has colour deficiencies, we still say colour blind, we’ll use the Ishihara test, which I mentioned, where the dots are the same colour. And if you’ve got normal typical vision, you will be able to distinguish a number. If you’re having difficulties with your colour perception, you won’t be able to distinguish examples.
We also use a reading test called the Maclure, which is useful for assessing near vision of young children. These are sentences and words, so they’ve got to be able to read that one. And it comes in different print sizes. So it goes from n5, which is really small print, to n48, which is really quite large print. And it really gives us a guidance of the correct size for that child left on site. And that, in turn helps us to modify and make books in large print, exam papers in large print, having text on the screen in the correct font size.
And finally, the monster on top of the pencil, which does look fun, and it is fun. It’s what we use for observing and assessing a younger child, a baby, looking at how maybe they fixate, looking at a visual target. You might have seen them used in hospitals as well, how are they responding, do they blink to the light of the torch? So it’s all part of our Functional Vision Assessment.
So the next slide, what does this mean for children with aniridia? So there’s a photo there of a young person, that’s one of the young people I visit who’s got aniridia. He’s holding his long cane, and he’s smiling away, he’s wearing glasses, and he’s got a little pen, because he’s just done a little tour of his school and found a new classroom, he’s really happy about that. So that was about two weeks ago.
The other picture is a picture of somebody, a cartoon person with their arms outstretched, and they’re saying “I need…”. So every child with an eye condition, including aniridia, is an individual. So supporting… I can’t just say this is how you do it… supporting children with aniridia involves looking at their unique vision and learning, and creating what we call this inclusive environment.
So aniridia, as you’ll know, is a rare genetic condition, so it affects the development of the eyes, and it does lead to reduced vision. So these are the sort of strategies that I would be looking at, and are often required, but they are a generalisation for our students who’ve got aniridia.
So particularly challenging for young people with aniridia is participating in visual-based learning. So art can be challenging, science can be challenging. And then reading / writing can be challenging, especially if you have additional eye conditions, like nystagmus, which is an eye wobble, and if you have photophobia involved in aniridia.
So there is a need for teaching to be adapted with materials and resources. And this helps the children to access their learning. And I always have it in the back of my mind that actually, yes, these children have the same right to high quality teaching as anyone else in their class. And that’s what we’re aiming for the same experiences as closely as possible for those children.
At the heart of everything, I think we’re supporting these young children to feel safe and secure and confident. And I love that picture of that young person smiling away. Because he was feeling great about finding his way around his school because he’s been well prepared, he’s had some good mobility sessions, he’s familiar with his school. And we put that support in, ensuring that they get the right amount of support at the right time.
And we are aiming for them to be as independent as possible by the time they are young adults, and helping them with their independent living skills. So the support works best when young people have the challenges and are challenged, but we also support at the right level as well.
I’m particularly keen on young people finding their own voice. I know I’m doing a lot of talking today, but when I’m working with young people, I really like to ask and listen to what they’re saying, regular discussions about what’s working for them, observing what’s working for them, in their learning, in their life, and hopefully building up their confidence so they can self-advocate and talk to other people about what is working and what isn’t working.
Okay, next slide. It has the title “Access to learning and learning to access”. It says recommendations and advice for parents/carers, schools, preschools, supporting children with aniridia. There’s some speech bubbles and I’ve written “seating position in class, font size, writing slope, access audit of the school, verbalising instructions and modified printed resources”.
So those speech bubbles are the sorts of advice that I give regularly to schools and settings generally, and sometimes the parents about what works when supporting a young person who has aniridia.
Sometimes the recommendations are straightforward. They could be recommending touch typing, which we would provide tuition for, they could be asking the teacher “Can you use your blinds in the window to reduce the glare please?” Seems obvious to us, but sometimes it has to be recommended. And this is what we’re aiming for.
So the title “access to learning, learning to access” is actually not mine. I borrowed that. That was produced by someone called Mike McLindon and Graeme Douglas. And it’s based on the idea that over time, we will shift from support being provided directly to the young person for the access to learning, which they need when they’re younger, to them developing their skills for themselves to become independent advocates for themselves. And it doesn’t happen overnight.
So this support can happen, VI specialists like myself are going to help those children and their families on their educational journey. And we’re promoting structured environments for learning, where they can learn to access, gradually leading to the young person themselves, like I said, being independent and accessing the learning.
And it happens. I’ve got some nice examples of young people who I’ve been supporting for a while, going on to secondary school from primary school, they’re self-advocates, they can talk about what their needs are, what their eye condition is, what works for them with their modification of their resources and their technology. But it is a journey to become an independent learner and it can be a long one. So that’s why I think our service is really good at being there for those young people until they leave education.
This slide says “Assistive Technology”. There’s a photo at the top of a child in a wheelchair, he’s on the top left using an iPad that’s attached to a green stand, it’s nice and easy to move. Next to that, to the right, is a tablet on a raised stand with the distance camera. These are all pieces of assistive technology, which I’ll talk about a bit more. In the lower left corner is a picture of… it says Google on it, but it’s actually a braille note taker with a touchscreen and a refreshable braille display. And to the right of that is a child using a laptop computer with a screen reader.
So assistive technology, it’s really advanced actually, in so many ways, I think in the last five to 10 years. And the feedback we get from students with vision impairment is that they like their technology, and they find it helps them access their learning.
I think, if you have seen the photos, or if you come across this sort of technology, I think you’ll appreciate it’s less intrusive now, particularly in the classroom setting when you compare the size of an iPad, a standard iPad Pro, to an old technology, we see something called a CCTV magnifier, which is the size of a PC. So having something that you can have in class, that isn’t as obvious, is very appealing to our young people and helps them to feel that they are fitting into class.
So there’s many ways that we can support children with aniridia with their access to learning. The young person who I’m showing in the picture, he uses the iPad Pro. And he also uses Humanware Connect 12, which was that tablet stand for the distance camera.
Sometimes it can be simple and the young person just requires a larger monitor to change the display of fonts and icons. But there’s a lot of built in assistive technology now in our devices, like an iPad, where you can change your font size yourself and have the colour scheme change to suit your needs.
Other young people will require more specific technology. So we loan out all of these pieces of technology at the moment, and we’re always reviewing them and seeing what’s coming out next and what is becoming more dated.
The braille note takers are the choice for young people who are learning braille or writing braille in their own work. So we do loan out those devices, and they have options for refreshable braille, which means the braille pops up and disappears at the bottom of the device, so they can read along with what they’re inputting. They haven’t actually got the keys there, but they will be inputting at the top of that screen.
And audio books. Assistive technology can be through smart speakers at home. So lots of our young people listen to their books at home through their smart speakers, using their voice controls. So as I said, technology is always advancing, it seems to be going in a good direction for our young people with visual impairments.
This slide says “Braille”, I have mentioned braille already. So learning braille is like learning another language. Children learn braille code, learning braille from a young age… I’m reading off the slide here… has important benefits of children with vision impairment and it can help with literacy. And Braille is a much better way for a young person to understand punctuation, grammar and spelling than learning by audio.
I’m often asked if braille is still relevant in 2024. And yes, it is. Tactile learning of braille is assessed according to need. So if a young person is educationally blind and not able to access 48 font size, which is that larger font size I mentioned, then we will introduce braille and that will be considered for that learning media.
We’ve also trialled recently a new braille device called the Annie, which is the first time I’ve known an interactive device that is actually quite fun for learning braille, because it has been all paper-based and not using a lot of technologies. So we’re introducing that in Dorset. And I think braille has moved into the 21st century. And we’ve had some lovely things come along like Lego braille bricks, which have helped our young people access braille and make it more fun.
Okay, this slide says “Curriculum framework for children and young people with vision impairment”. There’s guidance on 11 curriculum areas. So this was released in and launched in March 2022, and it’s a national framework. So if you were doing a search on the internet for a curriculum to help young people in the UK with vision impairment or aniridia, it would come up with this guidance document.
So it’s been produced in collaboration with the RNIB charity. And it’s developed to support young people with vision impairment. So they get this equitable education, which I mentioned before, so equal access for them. And the framework presents outcomes, which are in 11 teaching areas. I won’t list them all off. But if you’re happy to find out from the RNIB website, there’s a document there for families or professionals if you’d like to find out more about it.
It’s still relatively new in the VI education world. And we are using it, but it’s still in development. So we’re starting to talk about those 11 curriculum areas in our work. And we’re looking at how we can do that and embed that in our service.
The image on the page there is the front cover of the curriculum framework for VI. So it’s got the title “Curriculum framework for young people with VI” and a picture of someone sitting at a table, with an adult and a child using an iPad.
So the next slide says “Support Systems”, and it’s got a photograph of a teenage girl in the foreground. And she has a speech bubble saying “Sometimes I can’t see my friends and I get left out.” She doesn’t look very happy. There’s three teenage girls in the background as well, who are blurred away but they’re there and they’re whispering into each other’s ears.
So this is the part where I’d like to talk about setting up support systems for young people, particularly with aniridia. So an illustration of this point of a support system would be the people around that young person. So the teachers, the parents, the friends, the school staff, how are we working together to create this supportive environment, and myself included and my team.
So yeah, highlighting the significance of those partnerships. These children are not on their own, there are lots of other people around who can support. And the way we do this is my service offers training for teachers and staff, specifically if they have a child with aniridia, so they can understand what the eye condition is and how to support those young people with vision impairment.
We also offer workshops on using that assistive technology that I’ve been talking about. So creating accessible modified materials. So if there is a need for modified large print, we offer training for staff at school, the teachers or teaching assistants, to produce those resources.
And what I really enjoy as part of my job – I do love my job – is peer training, where we provide awareness training for the classmates of that person who have aniridia. It’s been really successful, in many cases, to foster an inclusive culture for those young people.
So we start very young, sometimes I might go into reception class and talk about what it’s like to have an eye condition, and the sorts of things that you might be finding helpful to use. And if they’re using braille, to explain what it is to the rest of the class. it also takes away a lot of the stigma and the questions that young people get asked about their eyes.
We show them pictures of what someone’s eyes with aniridia might look like, whether they have Nystagmus, if they’ve got the wobble on their eyes, then that is involuntary. We answer a lot of questions that young people might have in those peer awareness training sessions.
We promote buddy systems to encourage peer support as well. So that person doesn’t feel alone at play times. And they are generally very successful. But as I said, it is really this whole support system of all of us working together and providing in person.
The next slide says “Social Opportunities”. And there’s a photo on the left hand side that says “VI Cricket Day” underneath, with one person bowling a ball, which is bigger than a cricket ball, more football size, and a person, actually a person with aniridia there, standing ready to bat with a cricket bat, and someone behind is waiting for the ball as a fielder.
The next picture is a photo of a day we ran, called the “My Bank Money Workshop Day”. And those are two siblings who have aniridia, who attended and learned about managing money, and how money works.
So in Dorset, as a team, we’re trying really, really hard to increase the opportunities for our young people to meet up and join in exciting events. So these events are just run for the children and young people that we visit. So far this year, we’ve hosted VI Cricket, VI Chess, the My Bank Money Workshop Day for primary children, we’ve had a Blind In Business event, preparation for adulthood, those who are looking at starting work.
And we’re really proud to have started an online low vision meeting for young people, which they’ve named themselves the Dorset Eyes Group. So they meet every month, and they talk about their agenda. So they talk about what they would find helpful. Sometimes it’s computer games and accessible games.
Often it’s about things that they’ve found tricky in their own lives. We’ve had some good feedback. Someone was finding it very hard walking on the pavement with overhanging branches, and we found a way to contact the local council and get those cut back. And it actually worked. So that was all through their meeting.
We’ve got more plans in the pipeline to do these events. They’re so important for young people who don’t necessarily know another person in their community who has a vision impairment – sometimes they do, but sometimes they don’t – to meet up. We’re planning to do a VI Football day in association with football associations, STEM Science day, maybe a Robot Wars day we’ve got penciled in, and also looking at a Creative Arts day.
Coming towards the end now. So this slide has a picture. In the background there’s some mountains and a lake, and someone’s looking through a lens, looking at the mountains. And it says “Focusing on what matters”.
So in closing, just to emphasise, there’s a lot to think about when supporting a young person or baby with a vision impairment and aniridia. But what we do is we really focus on what is important, which is putting the child first, and making hopefully them the centre of all the decisions, so they’re able to speak. But when they are able to speak, that self-advocacy, asking them to contribute, is very, very important.
I think I’ve come to the end now. So thank you for listening. And I’m happy to answer any questions anyone might have.
[Tierney] Thank you so much Gayle, that was really, really interesting, such a great talk. If anyone does have any questions, please do pop them in the chat.
But to get us started, I have one, which is with regards to parents and carers and things like that, how do you recommend they get started and find the information that they need to find the support that you guys provide? I think a lot of people don’t really know where to start.
[Gayle] Good question. So it really starts with that diagnosis. So if they have the diagnosis, I would be speaking to the ophthalmologist, because they can make the referral to us. Or, as I said, it’s slightly different in different areas.
So if you weren’t getting anything back from the ophthalmologist, I would contact the RNIB helpline, and they will guide you about your local authority area, or borough in London, wherever you might be living and how it will work. There will be a sensory service like mine somewhere nearby. Sometimes it’s run by charities. But yeah, more than often, it will be run by the local authority, like the council.
[Tierney] Great. Do we have any other questions for Gayle at the moment?
[Lady] Hello.
[Gayle] Hello.
[Lady] How many children do you have in your area that have aniridia in particular?
[Gayle] That’s a good question. So I have two on my caseload at the moment. I know there’s another two on somebody else’s caseload. I don’t think there’s more than that. I think there’s four in our area. So as I said, it is rare.
Because I also found out how many active cases we’ve got, because I thought someone might ask the question. So we’ve got 369 active cases, so to have four out of that many. It’s very low, isn’t it? Very low incident.
[Lady] How did you get interested in the aniridia ones?
[Gayle] They’re lovely children, and a lovely family. Yes, they are. It’s an unusual condition. And it’s rare. And I like the challenge of finding ways to support the young people and in their success, helping them to have success. So yeah, I think that’s what got me interested. And yeah, very, very, very supportive family as well, with the two young people that I’ve met. So yeah, just very interesting cases. Yeah.
[Lady] Okay.
[Gayle] Thank you.
[Lady] Thank you.
[Tierney] Great, thank you so much, Gayle.
[Gayle] Thank you.
Thank you to Glen for the video editing and write-up.
Gemma raised mountains of money for us by speedily climbing the three highest peaks of Scotland, England and Wales, in 24 hours. Here’s her story.
I decided to take on this challenge in order to motivate myself to stay fit and healthy. With 3 daughters it is important to me that I set a good example to them around health and fitness I am turning 40. What better way to mark the occasion than with a challenge that keeps me fit and healthy whilst raising money for a cause that is close to my heart?!
My niece has aniridia. Sabrina is an inspiration with how strong and resilient she is despite dealing with the daily challenges that come along with having aniridia.
The National Three Peaks Challenge involves walking 23 miles (37km) and the total ascent is 3064 metres (10,052ft).
Gemma tackled the climb a group organised by Charity Challenge. All the logistics and safety precautions were taken care off. She had to gather sponsorship to cover the costs and enough donations, train and then complete the feat itself.
I completed the challenge on 4 August – and the word challenge does not do justice to how difficult it actually is. It is one of the hardest things I have ever done!
We started off on Saturday morning with Ben Nevis. The weather was not on our side at all. There was heavy rain throughout the walk and wind chill temperatures of close to zero degrees! However, we got to the top! Coming down was just as hard but we made it.
Then after an evening drive to the Lake District we tackled Scarfell Pike through the night, in the dark. The weather was much kinder to us. The challenge here was the darkness and the very rugged ground conditions which made coming down especially tricky.
Then onto Snowdon for the final hike. We started off with lovely weather which unfortunately turned to rain as the day went on. For me this was the easiest of the hikes (although still far from easy).
I was met at the bottom by my dad (Sabrina’s grandad), our knight in shining armour (or should I say driver in a comfy car) who drove me all the way back down to Surrey in comfort!
It definitely took me a few days and warm baths to recover!
Our heartfelt thanks to Gemma and all her supporters for their very generous support. This funding enables us to run events and support scientific work on aniridia.
Twelve people joined us for dinner and chat about aniridia on 5 November. This included an American woman who has recently move to London for work and another long-lost member as well as several regulars.
It was immediately after the South-East edition of Sight Village at nearby Kensington Town Hall. This is an exhibition day of technology, kit and support services for visually impaired people. It’s great to visit. Read about and register for Sight Village.
As in the past patients and relatives met in a food court. Medz Corner has a choice of pizzas, sushi, Thai and middle eastern eateries. You buy your own food and drink then take a seat at our table. Medz Corner is very close to High Street Kensington Underground Station where James guided some people to and from.
Permjit Bhachu is Information, Advice & Guidance Coordinator at the charity Focus Birmingham.
At our 2023 conference in Birmingham last September, she gave a talk about one particular person she had been working with, who had endured a great deal of hardship on their sight loss journey and had to contend with the stereotypes of the benefits system. It’s a story of Hope and the importance of reaching out if you need help.
You can watch the video of her talk and read the transcript below.
Transcript
[James] Right, our last talk for today is Permjit here. She’s come from an organisation locally called Focus Birmingham, a local vision impairment charity, and she’s going to talk to us about benefits and life during the pandemic.
[Permjit] Good afternoon everyone. As we’re entering the end of the day, I don’t know how I’m going to live up to the other speakers, so I’m very humbled to be standing here today.
As it was explained, I do work for a brilliant organisation, Focus Birmingham. We are an independent sight loss charity.
My role is information, advice and guidance, and it’s exactly what it says on the tin. I call this my holistic career and I’m actually based in the low vision centre.
And I have been speaking to some of you today and some of our clinicians are still there. And I have to be honest with you, this is the best thing I’ve done.
But prior to this, I actually come from an arts background. So I totally diversified and work for Focus.
Now I’m going to be talking about a case study which I have been helping an individual. They identify as somebody called Hope.
Now Hope was actually an individual who had an academic career. And they were struggling with their failing eyesight. And they identify as they/them, so I will be addressing them as them and Hope.
Hope was also a very get setter person that wanted to be there at the centre of helping everyone.
But with failing eyesight, which led on to other medical health conditions, they’d lost their academic career more or less overnight. Which set them down into very deep depression, very sadness of having no financial means to support themselves.
And also, you know, being this independent, the family that they were the go to person started to go to other people. So they’d lost their identity as to where they fitted in the family arena. Hope always wanted to be that person, never to be the person to be dependent on anyone else.
The eyesight led on to other health conditions which inhibited their mobility. Sadly, it affected their inner relationships. So a lot of people started to not help.
Hope felt very isolated and then they started to stay at home. They didn’t know where to turn to, what to do, and they decided to stay at home.
Savings were depleting, once having such a brilliant academic career and mind, they couldn’t recognise their face in the mirror anymore.
Five cycles of “why me”, the anger, the grief, disappointment in themselves started to step in. And even the arguments got bigger and bigger and more inflated. So they didn’t know what to do.
Money was depleting and then they thought “Well, where do I go? What do I do?”
After earning such a substantial amount of salary every month, they were left with the bare bones to live on. Poverty was striking and they had to resort to going on to benefits, but didn’t know where to go.
So they came to us. Hope then sought sanctuary from us and they needed help.
I mean, you can all agree with me here folks. Navigating the benefits system is very, very difficult. You need to have an encyclopedia to even understand the basic jargon.
So there were various means that they had to go through, like Work Capability with DWP.
Again, the stereotype that everyone on benefits fits, you know, the negative stereotype, Hope wanted to break. They felt that they were not that stereotype as it’s portrayed in the media, and everywhere else that we hear and see and read. So they came to us for support and were broken, actually.
They needed counselling. They were depressed. They needed help. And they didn’t know who to turn to, so they came to us.
And fortunate for them, they came to a service which has very, very high esteem for looking at a person-centred approach and making lives better, which is two of our core values.
The actual individual themselves, Hope, thought “Well, what do I do?” And the shame they felt in applying for benefits was overbearing.
So they didn’t understand what ESA meant. They didn’t understand the different tiers of the benefit system. They didn’t even understand why you had means-tested and non-means-tested benefits, because they didn’t know which way to turn.
So they went through the Work Capability, proving that the fact that they needed support, and felt humiliated when they had the assessment. And bearing in mind this person has a creative academic mind.
And after that, they wanted to apply for what they called PIP. Again, understanding the benefit system, thinking “Well, hang on a minute. Why do I have to go through it again? I’ve just done the Work Capability.”
But that was for assessment for work, not for your disability. And the question that they asked is, when they were granted ESA, why cannot the PIP and the ESA be joined? Why do you have to go through it time and time again, and to be humiliated and felt small?
Hope pursued, carried on, and even the questions were quite repetitive, and the evidence that they had to provide, with medical and other assessments they went through.
Now, when they were starting to get more or less back into a financial stability, Covid hit. And we’ve all been through it, folks.
Hope, being on their own, felt more isolated. They were just starting to regain a bit of their confidence and a bit of self-esteem.
And those two/three years that they were isolated, they were able to engage with the activities that we have at Focus. Some of them were online. How many of us kept saying “How do I use Teams and Zoom?”, “You’re on mute.” How many times we’ve all heard that.
But Hope didn’t lose hope, and they carried on and pursued.
But having said that, at the end of the day, they still weren’t awarded their PIP and they were living on… and this is a question for the audience, for all of you. What essentials would you cut out, and could you survive on £450 a month?
Because that’s what Hope was granted under the ESA, which is contribution-based. And they couldn’t understand how they got to this, because they had thousands and their savings are depleted pretty quickly.
They started to rely, in Covid, on their neighbours, because they were facing financial poverty. Not only with their utilities, but also internet poverty.
And how many of us, you know, we couldn’t social distance, we got forgotten as a community. The vision impairment community got forgotten. So we had to fight. I mean, what was the thing about toilet rolls? I don’t get that.
But the question is, folks, and I will revisit that question, could you survive on £450 a month? What would you cut out, would you class as essential? That is the question that Hope is throwing to you.
Hope carried on, and Hope thought “Hang on a minute, I can’t keep carrying on like this.””
We were coming out of Covid and Hope was actually struggling with Long Covid symptoms, as well as everything else that was going on.
So trying to rehabilitate, trying to get back onto the straight and narrow was very difficult. Depression was still there. And until they could actually admit to themselves they needed help, they reached out.
And Hope now, fast forwarding a few months into the last few years, Hope wanted to give something back. And they kept saying “I used to do this, I used to do that.”
And we were saying, well, how many times when you’re given a diagnosis, folks, you have the clinical pathway? They forget the emotional and the holistic pathway. So the two do marry, and Hope was wondering “Well, I don’t know what to do anymore. Where do I go?”
And when they were given a cane, that was the next step for rehabilitation. Because when Covid did hit, every service that was available to us had stopped. Nobody was actually engaging face to face anymore.
So suffering with Long Covid symptoms, financial poverty, and also turning to their friends and family for support, it’s like going cap in hand. But Hope never gave up.
Hope wanted to give something back, and wanted to actually help the organisation that helped them. So they seeked to actually do volunteering, looked at various volunteering roles, who they are now affiliated with various charities.
They did actually get their PIP at both enhanced rates. And they are no longer on the ESA benefit. They are now in a career and they’re giving something back.
So my question to you before I conclude folks, because I’m mindful of time, what would you cut out? So could I just have maybe one or two answers just thrown to me?
What would you cut out with £450? What would you cut out?
Would it be food? Would it be the internet? Would it be clothes? It’s hard, isn’t it?
That’s what Hope lived on. And cereal was the best friend, which isn’t very nice actually. It depends what you eat.
But Hope now is actually in full-time employment.
And it just shows that with organisations like Focus and other organisations that are around, counselling was the first step that was taken. But you have to walk with them. Tools can be given to people, but it depends on how you embrace it.
And my personal story folks, the role I do is crucial to the story of Hope. Because we don’t want to lose hope in times of Covid, post-Covid, in times of a cost of living crisis. The benefits are very difficult to navigate, especially when you’ve worked in such a great career.
And there’s many Hopes around in this room, as I’m sure you’ll agree with me. So, like I was saying, please don’t give up hope.
Hope is real. Hope is in a successful career, with a little smile on their face, and they are embracing their disability, which has given them empowerment, enjoyment. Everyone has their bad days, who doesn’t, but they’ve not looked back, and they’ve gone from success to success.
And with charities like Focus, and other charities like the RNIB and yourselves, and the amount of importance on research, let’s hope we can have a cure for all visual impairment and all diseases.
Because people concentrate on, when you have a disability, what you can’t do anymore.
Let’s concentrate on what we can do, folks. Let’s enable everyone to have that hope and not lose it. Thank you.
[Applause]
I have missed a lot out, I’m going to be honest. You know what they say about remembering!
But does anyone have any questions about the £450 budget? It’s hard, isn’t it?
[Lady 1] Do you think it’s better, a local charity? You’re a small local charity, really, aren’t you?
[Permjit] Yes, we are.
[Lady 1] Do you find you’re more nimble and able to help?
[Permjit] Since I’ve been doing this role, I have seen the progress, just similar to Hope’s case, has made.
Some people haven’t had PIP, they’ve had it denied three times, and with gentle filling in the forms. People say to me “Well, how do you do it?”
But even though we are small, we are quite big. We’ve been established since the late 1800s.
The name has changed over the years, but it’s not just about people with dual sensory loss, because we’re very unique, we have a low vision clinic. So we have optometrists on site and also a low vision dispensing optician as well.
We have a shop affiliated to where we are, and also we have information, advice and guidance.
I also have a colleague who actually delivers kitchen skills and being safe in the kitchen for daily living, for people who are transitioning over from BMVI.
And also they do tech, because technology is so important folks. I mean, if we didn’t have our technology.
Some people are actually facing hardship, so some of the actual benefits do not… they are disadvantaged for people who are on a contribution-based style ESA, because not all the means-tested benefits.
So, you know, I could be here all night, which I don’t want to be, because I know we’re all engaging for the right reasons.
But even though we are a small charity, we provide a lot of support, not just for the individual, but for families as well. Because it affects the families and people forget that.
And I’m actually one of a similar case to Hope, because I wanted to give something back.
And when Hope was always saying “Well, I can’t do this, I was an academic”, they still are an academic. They haven’t lost that brainpower, they haven’t. And that’s the belief that they’ve lost.
So for any organisation, big or small, we all fit in the cog.
And we do do signposting as well to other charities, and RNIB and also Birmingham City Council, and also working closely with the ECLOs. Our referrals come far and wide, but within the Birmingham quadrant, which is one of the criterias.
I actually am a trustee for another charity. And I’ve seen how much work a small charity does actually do, and the impact it makes on people who are either on their own or their family or they’re struggling.
All they do is reach out and we can support them as best we can. And we do have realistic outcomes as well.
Ok, any other questions, folks? No?
Thank you for listening, hope I haven’t bored you!
[Applause]
Thank you to Glen for the video editing and write-up.
Alyson Mountjoy is the founder of APD Support UK, which provides information and useful links for people affected by Auditory Processing Disorder, a condition that affects her son.
She has also written two books on APD – one of which we reviewed a couple of years ago – and has contributed to various professional research projects, SEN charity blogs, and other related publications.
At our 2023 conference in Birmingham last September, she presented a comprehensive overview of the condition, including the many ways it can impact the lives of patients, how it can be identified and diagnosed, and how to support those who have APD.
You can watch her presentation in the following video, which includes a group discussion towards the end, and we’ve also included the transcript below.
My journey supporting people living with APD started in 1999 when I realised that my child, now an adult, had difficulty with understanding and remembering speech.
A hearing test revealed perfect, even hyper-acute, hearing. No one could tell me what was wrong, and there was no information, testing or support in the UK at that time. So I began looking for answers.
I have continued to research and share information and support ever since, so that no one else would be as lost as I was when my journey began.
I have since written two books on APD based on my own experiences and observations and those of the thousands of individuals and families touched by APD that shared my journey. I have also contributed to UK and international professional research projects and I will continue to fight for wider APD testing, recognition and support.
This presentation will give you a brief overview of what I have learned about APD and its complexities, how it affects people, how to get a diagnosis, how to live with it and ways that others can help to support those who live with it every day. The things I would have wanted and needed to know from the start.
APD stands for Auditory Processing Disorder. This is a very complex condition with a lot of misinformation and myths surrounding it.
APD is a medical condition of neurological origin. APD affects how the brain processes sound, including speech. APD can be present from birth or develop at any age from a variety of causes.
Anyone could develop APD. You might already have it and not know.
APD is caused by damage to the brain. APD can be genetic, it runs in some families.
Mutation of the PAX6 chromosome is believed to be one such cause. This is what also causes aniridia and an estimated 50% of people with aniridia are thought to also develop APD.
There are many other possible causes too, including frequent ear infections leading to glue ear, or epilepsy, head injury or other medical conditions and more.
However, the cause doesn’t matter. It doesn’t affect how it’s diagnosed or managed. What is important is learning how the person is affected by APD and how they can best be supported.
APD is not rare, despite what you might have heard. APD being rare is one of the many myths that surround this condition, making it harder to access accurate testing, get a valid diagnosis or access support.
It is often said to parents or adults who suspect APD when seeking referral, accompanied by comments like “You, or your child, couldn’t possibly have it”, and then they are sent away.
APD is thought to affect up to 10% of children or up to 40% if they also have learning disabilities. APD is thought to affect 20% of adults. But because there are still so many people undiagnosed, the actual numbers could be a lot higher.
There still seems to be a lot of controversy around APD and its relationship with hearing, but the facts are clear. APD does not cause hearing loss.
Mostly, APD exists in people with normal hearing, but it can also occur in those who also have hearing loss. This can make APD harder to cope with, because the brain needs clarity of speech at an equal volume in both ears to help to process it.
APD is a global condition recognised by the World Health Organization. It’s included in the 2023 version of the ICD-10, the International Classification of Diseases, which also contains other conditions, and in their 2021 report on hearing as a “hearing disorder”.
This is because the brain controls how speech is understood. Without the role of the brain to make sense of speech, everything that we all hear every day would just be noise.
In someone with APD who has no hearing loss, sound and speech reach the brain perfectly well. But without the brain doing its job efficiently in making sense of it all, it would just be unintelligible noise to all of us.
Those with APD often say that it sounds like people are speaking in a foreign language. In the most severe cases of APD, language has no meaning.
The hearing function is not complete until sounds are converted by the brain into an accurate interpretation of sound, such as music or intelligible speech that we recognise and understand.
Therefore, the brain is an essential part of hearing, and in APD that very important part of the hearing process is damaged and the information received is corrupted. So processing, understanding and remembering what is heard cannot be completed efficiently.
APD can also be considered as a sensory impairment, because it affects what is heard. A communication disorder affecting both receptive and expressive communication, what is heard and what is said. And for some, it can affect what they read and write too.
A neurodivergent condition, because the brain of someone with APD works in a different way to the average or neurotypical person. An invisible disability, because its effects are not obvious as with a physical impairment.
There are several difficulties that can be tested for. Anyone might struggle with some of these issues at times, but a child or adult with APD will do so regularly.
The difficulties can include understanding and remembering verbal information or speech, understanding and remembering verbal information in the presence of background noise, remembering verbal information in the right order, difficulty selectively processing speech coming from a particular direction, Spatial Processing Disorder. And I’ll explain more about that later.
They can also test for difficulty with identifying, remembering and manipulating sounds and the differences between them. Perceiving gaps between words – just imagine if everything you heard with just one long string of sounds with no breaks between them.
Also problems with higher listening tasks, for example drawing inferences from conversations, understanding riddles or comprehending verbal mathematical problems.
Any child or adult with APD could have any combination of these difficulties. That’s what makes it complex to identify and hard to manage.
These are just the difficulties that are identified by testing. Later on, I will outline more APD related difficulties that also significantly affect daily living.
APD normally does not exist alone. There can be any number and variety of other conditions and difficulties, mostly unrelated. These will impact each other, making the effect of each harder to cope with.
It is now believed that everyone with autism has APD in some measure, but not everyone with APD has autism.
The APD difficulty called auditory discrimination, which affects identifying, remembering and manipulating sounds and the differences between them, known as phonics, can lead to problems for some people with reading and spelling, known as dyslexia. This type of dyslexia is known as auditory dyslexia.
The other known cause is Visual Processing Disorder or VPD, leading to visual dyslexia. You can have either or both causes of dyslexia, but you can also have APD, VPD or both and not have any problems with reading or spelling.
To help someone with dyslexia, you need to know the cause. Remediating auditory dyslexia with phonics will not work, because their brain simply does not identify, remember or use the sounds efficiently. It is a neurological deficit.
Those with visual dyslexia alone can benefit from using phonics and those who have both need a more multi-sensory approach.
The APD difficulty can also affect learning to speak, because if you can’t differentiate between the different sounds or remember them correctly, you won’t be able to reproduce them properly as speech. But APD does not affect intelligence.
If someone just has an APD diagnosis, it normally means that the other co-existing conditions, disabilities or difficulties haven’t been identified or diagnosed yet.
If there are difficulties that don’t fit with APD, you need to keep looking until you have identified each cause. Some parents are accused of collecting diagnoses, but a diagnosis is normally the only way to get their child support. And even then, it’s a struggle.
The first sign of APD might be that the person seems unable to hear. So the first step is always to get a hearing test to rule out hearing loss. If the hearing test shows normal hearing, APD should then be investigated.
This is the point where patients are sent away and told nothing is wrong. But the difficulties are still there and they need to know why.
Even if there is hearing loss, APD might also be present. There will be indicators that don’t fit in with hearing loss. For example, if they struggle to remember what they hear or if any of the other difficulties mentioned earlier are present.
If APD is suspected, only specialist testing can rule it out. It’s vital to remember that everyone with APD is affected uniquely by APD due to the varying severity and combinations of difficulties.
Then there are the other coexisting conditions to consider. Conditions with maybe similar symptoms which can mask it or even lead it to be misdiagnosed.
APD is different to other medical conditions that are clear cut and have the same set of easily recognised symptoms in everyone. But unlike conditions like autism or attention deficit disorder, which rely on just a checklist of symptoms and observation, there are reliable tests used to diagnose APD or rule it out definitively.
In the UK, only a consultant in audiovestibular medicine or an audiologist with specialism in APD is qualified to diagnose it or rule it out. It is not true that any audiologist, speech and language therapist, occupational therapist, paediatrician, educational psychologist or other professional can diagnose APD.
Even today, there are still only three NHS APD testing centres in England and one in Wales that provide the appropriate tests and professionals qualified and experienced enough to give a valid diagnosis in children. For adults, there is just one in England and one in Wales. There are none at all in Northern Ireland or Scotland.
APD Support UK provides a list on the website with full details of who can refer and who can test and the criteria. Also reliable private APD testing centres. Anywhere else will normally be basic screening, which can miss even severe cases of APD and cannot give a valid diagnosis. If you think we’ve missed any, please ask them to email me to be added to the list.
There are many barriers to APD diagnosis. The biggest barrier is that medical and educational professionals don’t know how or where to refer. Here are just some of the others.
GPs and local hospitals are reluctant to refer out of area due to expense, or they’re told to refer locally because a proper diagnosis is available. But most hospitals claiming to diagnose don’t buy or use the full testing battery and are also untrained in this specialist area. So they just use basic screening tests as a way to give a diagnosis.
Screening alone cannot give a valid diagnosis. It should only be used to indicate which of the tests mentioned before are needed.
Even severe APD can be missed, especially when those screening lack the training and experience to even interpret the results properly and when no further tests are carried out. Those hospitals will then refuse to refer on to one of the full testing centres and people who might have APD are just told they don’t have it and are simply sent away.
All of this is deeply worrying when the appropriate tests have been available for almost 20 years and APD has an NHS web page with a link to the APD Support UK website. Instead of unreliable screening, we need everyone suspected of APD to be referred to one of the specialist testing centres.
Other barriers include the belief that APD does not exist or that it’s rare, that there’s no APD testing available or it isn’t good enough, and not knowing what the symptoms are, or thinking that you need to have them all.
Some medical professionals believe that APD is an education problem, when it’s a medical condition. So they just send parents away to speak to their school SENCO.
It’s also a belief that there’s no point in getting a diagnosis because there’s nothing that can be done. It’s true that APD can’t be cured but access to support is essential and a legal obligation.
The more APD is publicised and the more aware the general public and professionals become of its existence and where to go, the less time each child and adult will have to struggle to gain validation and essential support. Even a late diagnosis as an adult is well worth it.
As well as a list of the recommended testing centres, the APD Support UK website provides APD guides for most medical and education professionals with appropriate referral pathways and facts to dispel the myths to hopefully remove the barriers.
Consultation, testing and diagnosis are usually carried out on the same day where possible, but this can vary between centres. The hearing based tests are carried out in a soundproof room wearing headphones and last about an hour and a half.
You just need two APD difficulties of a qualifying severity for a full diagnosis of Auditory Processing Disorder. Any difficulties of lesser severity merit a diagnosis of auditory processing difficulties. Even one can be debilitating and will need support.
Spatial Processing Disorder affects locating the direction of speech or sound and/or recognising who is speaking in a group, for example a teacher. It’s the only difficulty that can have a standalone diagnosis. It can also be one of the two required difficulties for a full diagnosis of APD.
It can lead to safety concerns, for example in traffic, if a child cannot process the direction of vehicles when crossing the road just by listening, or tell how close they might be.
A diagnosis report should follow in the post a few weeks after testing. Parents should inform their child’s school of the test results as soon as they can.
The same applies to adults seeking support in the workplace. Give them a copy of that report as soon as you receive it. Always keep the original of any report.
The report should contain recommendations for reasonable adjustments, which they must implement by law. This might include equipment such as an assistive listening service or ALD.
Even a diagnosis of auditory processing difficulties merits support. If you don’t understand the report, it’s best to contact the person who wrote it and ask them to explain.
The stages of learning to live with APD are these.
Acceptance of what is and letting go of what might have been – In my book for parents and professionals, I describe this process as similar to the stages of grief, and acceptance is just as important at any age.
Information – Learning as much as they can about how APD affects their child or themselves as an individual, and getting used to any other diagnoses in the same way.
Strategies – Finding out the APD difficulties affecting that person, finding ways around the problems and learning to apply them to a variety of situations.
Support – Knowing their APD and what makes it harder leads to working out what can help.
Self advocacy – Learning to ask for the help that they need. This process can also help people manage any type of condition.
According to the Department for Work and Pensions in the UK, you are disabled under the Equality Act 2010 if you have a physical or mental impairment that has a substantial and long term negative effect on your ability to do normal daily activities.
According to that definition, and depending on the type and severity of APD difficulties present, APD qualifies for the definition of a disability in the UK, because of its effects on communication.
APD is not itself a learning disability. However, it is a medical condition that can greatly impact learning due to its effects on communication.
So it’s a legal obligation for learning institutions to provide support for learners of all ages for APD and all other additional needs, by way of reasonable adjustments and equipment where specified in a diagnosis report.
It’s also a legal obligation for local authority sensory teams and teachers of the deaf. This is because of the role of the brain in hearing and because it’s a sensory impairment and a recognised hearing disorder.
Currently they will often refuse support and equipment unless the learner also has hearing loss. But refusal to support APD can be seen as disability discrimination, which is unlawful.
It’s also a legal obligation for employees to provide support at work by way of reasonable adjustments and equipment, as specified in a diagnosis report for APD and all other additional needs. Refusal to support APD in the workplace can also be deemed disability discrimination, which is unlawful.
Even though there is no legal requirement to do so, it’s advisable to tell your employer that you have APD, or any other disability or condition, if you think you will need support at work. Do this as early on as you can and definitely before your work starts to suffer. They can’t help if they don’t know about it.
You may not need support at first. You may not even have a diagnosis when you start the job. But if your job has changed, if you get a promotion, your hours change or the work gets harder, if your work environment changes or if you get a diagnosis later on, you can just ask for help at any time.
Just work out which parts of your job cause you problems and think of things that would help you to do your job to the best of your ability, then speak to your employer. The APD Support UK website has articles that can give you suggestions.
People with APD and other conditions can also apply for disability benefits such as Personal Independence Payment (PIP) or Disability Living Allowance (DLA). They can also apply for Disabled Students Allowance (DSA), at college and university and access to work to help fund reasonable adjustment and equipment in the workplace. If your APD affects how much you can work, you could also apply for Employment and Support Allowance (ESA).
Success is not guaranteed. That will depend on the person’s unique APD profile and severity, the impact of their co-existing conditions, and how much support is needed with daily activities. But communication is a huge part of daily living.
Any and all other conditions, including stress, anxiety and other health and mental health conditions, should also be included in the application.
The next set of slides will discuss some little known common side effects of living with APD and dispel some more misconceptions about the condition.
Processing speech is not just a problem when it’s noisy. That’s another myth. Someone with APD can struggle to process a one-to-one conversation in a soundproof room.
Background noise just makes it harder, as does hyperacusis, a condition causing sound sensitivity or hyperacute hearing, which often accompanies APD Assistive listening devices, or ALDs, are not all a person with APD will need by way of support, because a problem with understanding speech when it’s noisy is not all that might affect them. That is another myth.
But for those that have that problem or have difficulties with the direction of speech, an assistive listening device can be essential. But they should not be overly used or relied upon, and should never replace the development of coping strategies, because there are situations for which they may not help.
Support should also include good room acoustics to reduce ambient noise, which would benefit everyone.
Despite popular belief, APD is not about poor listening skills or not paying attention. Even when they are listening and can hear clearly what is said, the brain of a person with APD might still not allow them to understand part or all of what they hear, or remember it, or use that information correctly.
People with APD can be distracted at times, but this is not an attention deficit problem as such. It’s because their vision and other senses are heightened to compensate. This additional sensory awareness, on top of listening fatigue, can also lead to sensory overload.
With APD there can be good days and bad days. The effects of APD are intermittent and variable from day to day, and even throughout the day. This is one of the things people find it very hard to understand.
This can be affected by tiredness, illness or stress, or other factors such as hormonal fluctuations during puberty, pregnancy or menopause.
Exhaustion is a major problem for those with APD, from simply doing what others take for granted, trying to process what they hear. It can be worse on bad APD days.
Asking someone with APD if they’ve understood what you said is pointless. Being able to repeat what you said parrot fashion just means the person with APD has heard it, not that they have processed it or understood it.
They may not know that they’ve not understood it or argue that what they thought they heard was correct. It can cause them a lot of problems and great distress, knowing that they can’t trust their own brain.
Because of this, someone with APD will need visual reinforcement of all verbal information and instructions, so that they can check back and ensure that they do understand. Also so that they don’t have to rely on their auditory memory.
Post-processing is a term I’ve adopted over the years to describe the delay that someone with APD can experience in processing, understanding and remembering what is heard. For some people with APD, this takes a long time, maybe several hours or even overnight, before they remember what they heard that day.
When a child or adult with APD comes home from school or work and you ask them about their day, they may not remember until bedtime, and need to talk about it then to get it out of their head so they can sleep, and this should be encouraged. It can lead to sleep issues for a lot of people, which adds to their exhaustion, and also makes processing and coping harder.
Even when they remember it, there can be bits missing or parts that make no sense, sometimes because just one vital word was misprocessed.
Expecting someone to rely on having processed verbal information at school or at work, and to discuss it and work on it, is unrealistic and written back-up is needed.
Post-processing is not part of the APD testing battery, but it’s something that causes many people with APD a lot of problems.
Everyone with APD can struggle with at least some of the more common yet little known side effects of living with APD.
They can include using phones and processing or understanding digital voices, for example when using a computer, doing remote meetings or learning, playing and chatting on games consoles, etc and even watching cartoons or anime can be a big problem. This is due to degraded sound signals and the inability to lip read or rely on visual clues like facial expressions in these situations. They will need subtitles.
Unfamiliar voices and speech patterns, also strong accents, can also be harder to understand. Some people with APD find high-pitched voices harder to understand, others have more difficulty with low-pitched voices.
Processing and regulating the volume and tone of their own voice means that some people with APD speak very loudly and others very quietly, and this can lead to others making incorrect assumptions about their personality as a result. Quiet indicates quiet or shy, loud indicates that they’re aggressive or brash.
People with APD can also perceive that someone else dislikes them or is shouting at them or telling them off, when this is not the case.
Not processing certain sounds can lead to failing to process fire alarms, or phone or clock alarms, leading to safety or punctuality issues.
Also, blocking background noise to fall asleep or work can become an automatic coping strategy in some people.
As well as causing poor short-term auditory memory, which can be tested for, APD can also affect other types of memory too.
Auditory working memory affects holding verbal information in your head long enough to do something with it, such as remembering a question to work out to reply or a list of numbers long enough to do a sum. And if the information is not processed properly, that action will fail. Also, misprocessed information will be stored in the long-term memory as incorrect or with bits missing.
Word retrieval issues, or not being able to think of the right words when you need them, can affect both verbal and written tasks, and lead to delays and unfinished work.
Verbal tests like mental maths and spelling tests, also time tests and activities, can put people with APD at a disadvantage and should be avoided or extra time given.
Support for learners with APD should depend on their individual APD profile and other conditions. APD Support UK provides a list of recommended strategies.
The most important is that because of their difficulties with verbal information and auditory memory, they should be given visual reinforcement of all verbal information, all verbal instructions including important notices and deadlines, and all subject-specific vocabulary with meanings. This can be provided as typed notes, diagrams and/or texts and emails.
Hearing unfamiliar words can cause a delay while they work it out, and they can replace a new word with a known one, totally changing its meaning.
Someone who also has a visual impairment like aniridia, or visual processing difficulties, or cerebral visual impairment, can benefit from multi-sensory input, speech and visuals, in large print or in colour, or a colour that suits them if they also have Irlen syndrome. Using their preferred learning style can also help.
Learners with APD should not take dictation or be left to make their own notes, because they don’t accurately process verbal information. There might be incorrect sections, there might be sections missing, or sections might be written down in the wrong order. Their notes have to be correct, because they have to work from their notes, and they have to revise from their notes for tests and exams.
Access to education and success in learning should not rely on a child’s ability to take dictation or make their own notes. It puts children with APD, and those with hearing loss and certain other additional needs, at a distinct disadvantage from the start in comparison to their peers who can hear and process speech efficiently.
Everything that is said or taught should be made accessible to all learners.
Differentiated work and homework is also essential, so that each child with APD and other additional needs can fully access the curriculum and meet their potential. This means the task should have SMART targets – specific, measurable, achievable and relevant – so that they don’t become overwhelmed leading to sensory overload.
Unfinished work should not be sent home. If properly differentiated, they should be able to finish it in class.
Some children with APD might also have dual exceptionalities, known as 2E. This means that they are gifted and talented learners with additional needs.
Both aspects need to be supported, and fully differentiated work is even more important for them. But challenging them, yet taking into account their additional needs, does not mean that their workload increases.
Learners with APD will often need support for tests and exams, known as access arrangements. They should all be assessed for this with regard to their APD – not their hearing, which often happens.
This must already be their normal way of working to be allowed an external test and exams, so this support must be implemented as soon as possible in class after diagnosis, both to qualify and for the learners to get used to working in this way.
They might need extra time for word retrieval and delayed processing, also to form responses, a quiet room to minimise distraction, and sensory breaks when needed. If they also have reading, spelling and/or writing difficulties, they might also need a reader, a scribe or use of a laptop.
Safety should always be a consideration with someone with APD, due to their inability to effectively process and remember verbal instruction.
Simply explaining things like sports, fire and swimming safety instructions might not be enough, because in someone with APD it might not be processed. Vital parts of the explanation might be missed and they might not register that they are available elsewhere to read.
Give them a typed copy with diagrams. Typed instructions for school trips need to be provided too.
A designated responsible safety buddy for children is also a good idea, to make sure that they are aware if there is an alarm, to keep an eye on them during swimming and sports or other activities, and alert a member of staff should the need arise.
For example, it is possible for someone with APD to swim downwards when they think they are going up. Traffic safety and the importance of looking both ways must also be emphasised.
Processing speech and extended periods of listening can be physically draining, especially when it is noisy and/or they are already tired, stressed or ill. Energy diverted to deal with these situations means that coping strategies can fail. Add headaches, stress, migraines etc, and it all falls apart.
Sensory overload is common, making the brain effectively shut down, so that no more information can be processed, understood or remembered. They can then become overwhelmed. Sensory breaks in a quiet place are essential to both prevent and relieve this.
Repeated failure is devastating to a child or adult, yet it is often required at school before a child receives any support. They know that there are things that they can struggle with and they might see themselves as different to their classmates.
They probably won’t know that this is simply because their brain works in a different way. They can blame themselves and they must be told that it isn’t their fault.
Children with APD and other additional needs can be criticised and ridiculed by teachers every day, for not understanding or getting something wrong or asking for help. They are blamed for something that they have no control over, and told they are not listening, not paying attention or simply not trying hard enough.
It happens far too often, even when the school knows they have APD. This is called bullying and children will copy a teacher’s behaviour, adding to the damage. It can happen to adults too in education and at work.
In a child with APD and other additional needs, confidence and self-esteem can be chipped away over time, and any joy that they ever had in learning can slowly be eroded. This can lead to anxiety, social anxiety, even depression, even in very young children. The damage can be lifelong.
If help is refused, a child will eventually stop asking. Left without adequate or appropriate support, a child with APD and other additional needs will become more stressed, anxious and frustrated.
This all adversely affects processing and a distressing cycle of misery can follow, often leading to emotional and behaviour issues. It can be unbearable.
The pop bottle effect occurs when a child with APD and other additional needs becomes stressed and frustrated with being unable to process and cope. They hold it in all day at school and then explode at home. This is normal and understandable, and they should be allowed to vent where they feel safe.
But the problem arises when they start to do this at school. Once a child is labelled as a behaviour problem, it can overshadow their other needs, which are then often ignored.
This can lead to school avoidance and even school phobia. The child can give up on struggling to learn, then the education system gives up on them, and that child’s chance of an appropriate education is over. There can be serious side effects on their physical and emotional wellbeing too.
An increasing number of children with APD and other additional needs now benefit from being home educated, or from education other than at school, because of their traumatic experiences, which can lead to post-traumatic stress. These arrangements can help some children enormously, as can professional counselling.
Support at home and from family and friends is just as important as elsewhere, even more so at any age.
Try to minimise noise, especially when speaking. Get their attention before speaking. Ask how they prefer information to be presented, repeated, rephrased or written down. Be patient and prepared to listen.
Allow them to vent about the frustrations of the day when they come home, then leave them to rest and relax. They might be in sensory overload.
Discourage a lot of activities after school and work if you can. Help to build confidence and self-esteem whenever you can.
APD can adversely affect all types of relationships at any age. Teaching children social skills can help, but enforced peer friendships should be avoided. Problems in recognising social cues means that people with APD can be socially awkward, and as such they can be socially vulnerable.
Interrupting a person with APD can mean they have to start again from the beginning. Some people with APD might also just use simple language and speak as they prefer to be spoken to, giving short sharp responses which can appear rude, or they might have a roundabout detailed way of explaining things or replying in case they forget something.
Some children and adults with APD prefer their own company to regular misunderstandings and arguments, and will actively avoid social contact. They find out early that the quality of their friends is more important than the number.
APD is usually incurable and lifelong. A child with APD will become an adult with APD, and there are no reliable therapies with proven long-term benefits. Maturation of the auditory processing system can improve things a little, but APD doesn’t usually improve after the age of 12 to 13.
There are certain situations that can be harder to cope with as they grow older. People with APD can find change of any kind very challenging and stressful. They rely on consistency and a controlled environment. Familiarity is comforting.
For example, moving to secondary school will mean many changes with more work, many new voices to get used to, added noise, stress and exhaustion. Also starting a new job, meeting new people, etc.
Then later in life, hearing and eyesight start to fail, and this can adversely affect coping strategies, making it seem like the APD is worse. However APD itself will not worsen without further damage to the brain.
But it isn’t all bad news. People with APD, like others with additional needs, often have compensatory skills and attributes developed from living with APD.
They can be resourceful, adaptable, resilient, determined and focused because they have to be. They can thrive when they use their strengths to work around their challenges, they are allowed to use their preferred learning style, and they receive appropriate and adequate support.
I’m sure you can now appreciate the complexity of APD, and because of that and the other additional needs that will be present, people with APD will have complex needs.
Things have come a long way since my journey started, but there is still a very long way to go to raise awareness of this disabling condition, also in its acceptance and UK-wide provision of testing centres and support.
With the right support, people with APD can and do succeed. They are not so much limited by their APD as by an ongoing lack of appropriate support and understanding about their condition. Please help us to change that.
If you think you might have APD or wish to learn more, please visit the APD Support UK website for further information.
If you know someone with APD, you can help them by sharing the APD Support UK website so they can learn about APD and how it affects them, and access the diagnosis and support.
The website provides further information and handouts on many of the topics discussed, along with our newsletters and links to our Facebook support groups. You’re welcome to join whichever group applies to you.
We also provide information every week on our Facebook page, Twitter, LinkedIn and Instagram accounts. You can contact me via the email address below.
And finally, I would like to thank Aniridia Network for this opportunity to promote greater awareness and understanding about living with APD. Thank you for listening.
My books about APD are available on Amazon, from Jessica Kingsley Publishers and other major bookstores, and they can also be borrowed from your local library.
Group Discussion
[Applause]
[James] So yeah, thanks to Alyson for that. And while recognising the irony of having you listen for extended periods of time while feeling drowsy after lunch in a darkened room… [Laughter] …any reactions? Anything you recognise? Disagree with?
[Bernie] A little bit I disagree with actually. It did sound contradictory what she said about… and I could see why she said it… about asking the child or the person.
Like I said earlier, if someone asks me “What did you understand of that?”, I don’t feel offended by that. And I think a lot of that is down to actually approaching things from the point of view of the person with APD. I don’t remember her saying anywhere ask the person what they need.
[James] Good point.
[Bernie] And I think that concerns me, because actually, if someone says “What did you understand?”, I don’t feel like I failed if I’ve misunderstood. And it’s about that person adjusting and changing, you know, shifting and changing how they approach that thing that the person hasn’t understood. And that wasn’t backed up as much as it could.
And it is about not making that person feel awkward or guilty about that situation. But that suggests that that has happened in the past to make people feel offended, if that question’s asked.
[Abbie] I was going to say, quite often sometimes if people ask me that, I then panic that they’re going to like get offended if I can’t tell them what I’ve understood, because I haven’t understood anything.
[Bernie] And I just say no, actually, I didn’t get any of that. So I think that bit needs a bit of work really. And yeah, it just felt very medical model to me. And I think that it would be nice if there was more involvement from people with APD involved with that.
[Abbie] I think a lot of it, though, I do agree with, and I’m like “Oh, that makes sense!” Quite honestly, I can’t give you an example right now, because I can’t remember.
[Bernie] But she did reinforce a lot of what we said earlier.
[James] Excellent, yeah. Anyone else?
[Lady 1] Can I just say that the book, Auditory Processing Disorder, is a really easy read. It’s aimed at professionals, parents and everybody, but I found it a really easy read. Some of those books you just get two pages and don’t go on, but I just sat and read it. It was very interesting.
But I do agree with what Bernie was saying, that you’re always going to have things that you think “well, that’s not quite right”. But it does give a very good picture of APD and what you can do, where you can go to.
So I do give her credit for it, that’s the white book on there with the green writing. It’s called Auditory Processing Disorder (APD) and it is reviewed on Aniridia Network’s website as well.
[Lady 2] Is it available in audio?
[James] I don’t think it is actually. But yes, if you click on the link on the Aniridia Network website, then we get a bit back.
[Bernie] Maybe encourage them to make it on audio. I know it sounds counterintuitive.
[James] I think it is on Kindle, so you can download it and get audio from Kindle.
[Bernie] Okay, that’s good, I can get Alexa to read it to me.
[Girl] Oh yeah, because I have APD. I found some of it was like quite relatable and stuff. And I think that it’s really good, just spreading awareness of it.
[Bernie] I think that there was a website actually.
[James] Yeah, the whole APD Support UK have got a whole website and Facebook posts and things.
[Andrew] Can I add as well, I was at the same conference that Bernie was, where Doris did the talk, and actually that was the same talk that got me to go and get diagnosed with APD as well.
That talk there is very generic to the entire APD spectrum. And where she is talking about giving it in an auditory form, she said using subtitles. Well, I can’t watch a telly with subtitles because of my visual issues. I end up spending so much time trying to read the subtitles and the subtitles are going so fast that I can’t read it.
[Bernie] Yeah, totally agree there.
[Andrew] I go into complete shut down.
APD is a spectrum. And most people with APD in this room, whether they know it or not, are going to have a vision impairment. So it needs to be adapted to them. So a lot of information that was within that probably won’t ring bells with them. But there will be aspects within it which should.
[Bernie] Yeah, I agree.
[James] And in many ways that’s similar with aniridia. Again, it’s a spectrum condition so everyone’s affected to different degrees and in different whites. So yeah, absolutely. Any one final point before we have a break?
[Lady 3] Just for those who do have a condition or diagnosis, how do you get on with audiobooks?
[Abbie] I’m very specific. So I use Audible and I have to always use the sample first, to see if I can process that person’s voice. So before buying the book I’ll listen to the sample. Sometimes I still can’t really get into the book and I have to restart the book multiple times to actually get it.
[Bernie] Yeah, I do the same. And you’ve got to be in the right mood to start a book. And sometimes I’ll start it and stop it if I’m just not in the right.
I think it is when you’re a bit sensually overloaded, if you start something when your head’s not in the right space, and I think it’s easy to give up at that stage. And sometimes I’ve had to think “Okay, I feel a bit clearer, the fog has gone out of my head now, I’ll start again.” And it can make quite a difference.
And you hear different things listening over and over. Listening to a book more than once, I actually get different info. It’s like reading a new book sometimes.
[Abbie] I also find I can’t sit still and listen to an audiobook. I have to be doing something practically with my hands. Even sometimes I do gaming whilst listening to an audiobook, because it’s the only way I can process it.
[Bernie] It’s just finding your thing, isn’t it?
[Andrew] To add to that, one of the things I find with the APD, this is me personally. It sounds very bizarre, because of the auditory context to it.
But if I’m actually trying to take something in visually – book, video or something – sometimes playing music which I like in the background actually helps me to process that information. I know it sounds really, really bizarre, but it works for me.
[Lady 2] I don’t think that’s bizarre.
[Man] I do something similar with meetings. So every day I have to go to a meeting at 12 o’clock, and I had my phone and I was just scrolling through photos. So I was literally just looking at pictures and all that sort stuff. And it helped.
I found that I was actually able to recall more of a meeting than I was without the photos, just sat there in front of the laptop looking at the screen.
[Bernie] I was saying earlier about those anchors, it’s like when you’re doing a task you can recall information. So it might be that you associate certain parts of that information with that bits of music and it’s like mentally you find anchors.
[Abbie] It’s almost like, for me, it’s a visual memory, ironically. So when I’m remembering a conversation, I remember it by what I was looking at at the time.
And I think that’s why gaming helps me whilst I’m listening to an audiobook, particularly things like Minecraft, because I do the creative mode and I think “Oh, I was building that house whilst we had that conversation.” It’s almost like a benchmark to remember what happened in that situation.
[Permjit] Can I ask a question? How would you go about getting referred? How would you know that you’ve got it?
[James] How do you get a diagnosis?
[Permjit] Yeah. Is it through your primary care team?
[James] Yeah, essentially you need a referral to one of these centres that Alyson mentioned. There’s more information on their website about how to do that. But as you said, it can be difficult to get that referral to the right places.
[Permjit] The reason I’m asking is because I know someone who actually fits. Everything that was said today fits. But the GP doesn’t know where to refer them to, because of the frustrations they’re feeling.
And everything about the diagnosis and about the different types, I’m thinking that fits that person. So why hasn’t this been picked up for them?
Because they’ve got a cognitive impairment anyway, and they’re autistic, and everything fits in with colour as well and being able to visualise something. Their creative streak is quite strong.
[Bernie] I think Alyson said that the links to where you can be referred to are on the website. I’m going to look for that as well.
[Permjit] Yeah, it’s not for me per se, but for someone who I know who actually fits. And because of the sheer frustration, when they came home as they were growing up, going into adulthood, they would take it out on their family, and the frustration was like a bomb had gone off. Really, really blue.
[Andrew] You have to be careful about who you have to ask as well. Because I’ve actually been to an audiologist, and the consultant audiologist says APD doesn’t exist.
[Bernie] I think people do think it’s one of those fluffy conditions that isn’t real.
[Abbie] Yeah, I went to an audiologist quite recently and she just kept calling it hearing loss, and I kept telling her it wasn’t hearing loss. And it’s quite frustrating when they don’t take take that on board.
[Bernie] You need a fact sheet, like a little card that you give people.
[James] Yeah, yeah.
[Bernie] Churn that in your machine.
[Laughter]
Thank you to Glen for the video editing and write-up.
Annual Report of Aniridia Network for the year ended 2023-24
Independently examined financial accounts of Aniridia Network for the year 2022-23
Announcement of results of online vote to appoint James Buller 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.
Any other business
Trustees Katie, James and Andy
Transcript of the meeting
[Tierney] So the next part of this conference will be the Annual General Meeting.
So you’re going to get a little idea of what the charity has been up to over the past year. And also you’ll get to find out the results for the trustee election.
So I’m going to hand you over to one of our trustees, which is Andy Baghurst.
[Andy] Wonderful, thank you Tierney. And welcome everybody to the AGM section of the conference.
I’m Andy Baghurst, I’m one of the three trustees for Aniridia Network, and I’ll spend the next few minutes taking you through the Network’s business.
So the first thing that we need to do is look at last year’s minutes.
So they’ve been online since the second of September last year, and they’ve been publicised by email and on our social media.
So this is an opportunity now for anybody to raise if they have any comments or any questions on any of those minutes. Please do raise your hand or put something into the chat. If there isn’t anything, we can move on.
So I can’t see anything, so we’ll move on. We’ll take those as agreed.
So we’ll move on now to the annual report and accounts.
So some of the highlights of the last year include a really successful in-person conference in Birmingham that we held in September 2023.
We had almost 60 delegates there and we had at least 9 speakers. And we followed that up with a social evening, which was really well attended.
We’ve also helped arrange and host various social meet ups over the year, which are a great opportunity for people to meet and discuss life with aniridia, share tips and generally support each other.
Our befriending and education support services have also been well used over the last year and more so than the year before.
We distributed a large number of leaflets to 480 organisations from eye charities to ophthalmology clinics. And hopefully they’ll help us to find new members who we can then support.
Whilst there have been lots of positives over the year, we’ve also faced a number of challenges.
So one of those is converting child members to adult members. We have to ask people as they turn adults if they want to continue to be members, and not everybody is carrying on with us.
So if you are a parent of someone who has become an adult, and they’ve not become yet an adult member, please do encourage them to become one.
We’ve also had a number of fundraisers over the last year, and we’re very grateful for all that they’ve done for us. But we’d love more. So if you are willing to help fundraise, please do get in touch with us.
A number of people have helped us over the course of the last year, and I’ll give them a shout out in a few minutes. But we’d also love to have many, many more people helping us if we can.
If you think you can help in any way, even if it’s just for a small amount of time, please, please do get in touch with us, we’d really love to hear from you.
During the course of the 2023/2024 financial year, we very sadly lost one of our long serving medical advisors, Melanie Hingorani, due to retirement.
That was a really sad thing for us because she’s worked with us for very many years, and it was a shame to hear that. But we wish her all the best in retirement.
And for the first time, our expenses exceeded our income. And that’s primarily due to us holding the in-person conference last year.
So if we now move on to thinking about some of the things that we’ve done during the course of the year.
In the last financial year, we got 10 medical inquiries on a range of topics, from genetic testing to somebody asking how they could complain about the medical care that they had received.
Our befriending service, I mentioned a few moments ago, had been really well used.
The befriending service is run by Lyn Buller for us, and it continues to be a real source of encouragement, particularly, but not solely, for parents of children newly diagnosed with aniridia, with 12 buddy relationships set up in total over the course of the year.
And parent information is regularly sent to all new members with children.
Moving on to education.
So we’ve had lots of people reach out to us over the course of the last year, asking for help and advice around education, with information sent to them on a number of things from pupil passports to educational health care plan appendices, as well as the RNIB’s early years resources.
We continue to have access to Clive Matthews, who’s a professional educational adviser, and one case was sent to him during the course of the year.
If you do ever feel like you would benefit from any help around education, please, please do reach out to us, we’d love to be able to help you. And if we can’t, we’ll certainly point you in Clive’s direction.
And Lyn also conducted a survey for us on the level of support provided by local authorities, with 26 parents responding to that survey.
So conferences and events.
For the first time in 4 years, last year, due to Covid, we held an in-person conference.
We had a large number of attendees and speakers, including from our fantastic patrons. And the event was followed by a social evening, which was also really well attended.
The trustees and I would like to take this opportunity again to say thank you to everyone who attended and participated in the conference in one way or another.
On Aniridia Day 2023, we hosted a meet up in London for 7 people. This is talking about the event in 2023, because it’s during the 23/24 financial year. But we also hosted some events this year too, in 2024.
On Rare Disease Day, earlier in February, we arranged a number of meet ups in Birmingham, Cambridge, Reading and London, and they were also well attended with 18 people going along.
So finance and funding.
During the 2023/24 financial year, we spent just over £7,500 and got income of just over £4,300. So for the first time, our expenses exceeded our income.
That meant we had to dip into our reserves, which do remain healthy, but we obviously can’t do that every single year.
Just over two thirds of our costs were on last year’s in-person conference, where we spent just over £5,000, with the biggest element of that being on the conference venue.
Other significant costs in the year include printing and postage. I mentioned the leaflets that we’d circulated to the 480 different organisations.
And one of the other biggest costs is the independent examination of our accounts as well.
Income.
So during the year, we received some significant one-off donations in the year, as well as some regular donations.
We really are truly grateful to everyone who donates to us and would like to say a big, big thank you for them.
We’d also like to say thank you to the people who fundraise for us, and I’ll come on to that in a moment.
The other main source of income from in the year was from attendance at the conference, but at just less than £1,000, that income was less than 20% of the cost of the conference.
During the year, we set up a couple of savings accounts to take advantage of the interest that we can earn on the reserves that we have, and hopefully that will help offset some of the costs that we have.
We are pending the outcome of the independent examination of our accounts, but we don’t anticipate any concerns, because the accounts have been prepared on the same basis as they always are.
So communications and membership.
I’ve mentioned a couple of times, but leaflets were sent out to 480 different organisations. Each organisation received 7 leaflets.
We sent all of those leaflets out with a view to raising awareness of aniridia for each of those different organisations, but also with the hope to reach potential new members.
And we have had some success with that campaign, with some queries and requests for more leaflets coming our way.
Volunteering and development.
So I mentioned a few minutes ago that we’d had some fundraisers.
The three biggest ones of note were Zinovia’s school, where she regularly does something for Aniridia Day, asking people to go in wearing sunglasses.
Lyn has very kindly arranged some gardening events for us.
And Laura continues to walk 15,000 miles in 1,000 days to raise money for us, and that has raised almost £600. So thank you to her for that.
We’d be very grateful and would look to support anyone who wishes to fundraise for us. Please do reach out to us if we can help you in any way with that. We’d love to be able to do that.
I mentioned earlier that our long term medical adviser, Melanie Hingorani, had retired. On behalf of all patients and aniridics that she has helped, we’d like to say a massive thank you to Melanie and reward her with an Outstanding Contribution Award. Thank you Melanie.
We’ve also had a number of volunteers that have helped during the year – Simon Iskander, Rachel Campling, Glen Turner, Lyn Buller and Clive Matthews – and we’d like to say a big thank you to all of them.
Some of our helpers have stopped volunteering during the year for various reasons.
We are constantly looking out for people who can help us. There’s lots that we’d like to be able to do, but we simply can’t do it because we don’t have the people to do it.
Please, please do get in touch with us if you can offer time in any capacity, we would really love to hear from you.
It can be a great opportunity for you to broaden your skill base, get involved in different things that you wouldn’t ordinarily. So please do reach out to us if you can.
So the trustee election. Existing trustee James Buller stood for re-election.
We had 430 eligible voters, but a turnout of just under 7%. All but one person voted for James, resulting in him being re-elected, so congratulations to him.
That brings us to the end of the AGM. I’d really love to welcome any comments, any questions on that. Thank you.
[Tierney] Great. Thank you so much Andy.
I think it’s always interesting to hear what’s happened over the year, because I know things can get lost with everyone’s busy schedule, so it’s nice to hear it all in one go.
Do we have any questions from the audience for Andy or any of the trustees who are currently on the call?
[Andy] So it does look like we’ve had one.
So yes, absolutely, we’ll post it in the chat here, a link to become a member.
An important reminder that membership is free, we don’t charge for membership. But having your details is really helpful for us. We can get in touch with you, send you newsletters, etc. So we’ll post that link in the chat.
[Tierney] Brilliant. Well, I’m sure if there are any questions, people can pop them in the chat, or as always you can get in contact with the trustees of the Network in private if that’s what you’d prefer. But we’ll move on for now.
We held this great event online and it was completely FREE to attend.
We had a great line up of speakers, to talk about aniridia related themes. From personal experiences to cutting edge research, education and leadership – something for everyone!
People came along to meet others with aniridia, their families, and the fantastic medical and scientific experts growing our knowledge on aniridia.
I felt included, informed and more hopeful for my daughter
Huge thanks to volunteer Tiereny McGuire for organising this event and all the speakers for their time.
A chance to chat online with fellow patients and parents attending conference, as well as our wonderful speakers.
I had never met anyone else with aniridia. I wondered how I would feel. But someone said to me how pleased they were to meet me, as someone with aniridia! It was the opposite way round to what I thought would happen – a moment I will never forget.
Aniridia Network 