A&E – Aniridia & Emergency: The bad

One day sometime in December 2009, while studying at university, I was walking to town with my flatmate Hannah. I suddenly realised my vision had completely dropped. Everything was completely blurry and i couldn’t see anything clearly at all. All colours seemed to have blended into one big mess. I don’t remember having pain, but remember being terrified that I couldn’t see properly – I only have sight in one eye anyway.

That evening it hadn’t gone any better, and felt like I was completely blind. I decided I should ring my parents and ask for advice. they were obviously shocked too, and rang NHS Direct for advice – they decided to send out an ambulance car.

The ambulance car took me to the local hospital (Worcester). They took one look at me and knew they were totally out of their depths. They decided the best thing was to send me all the way the nearest specialist eye hospital in Birmingham. By this time it was about 10pm. I got a lift from hospital transport and was told  I would be met upon arrival.

When we did arrive at Birmingham, it was all shut up and empty looking. No-one came to meet me and I had to find my own way to a desk to get help. They told me to take a seat in the waiting room, there was no offer of helping me find a seat. Usually I have enough sight to find a chair by myself, but at this point everything looked white to me and I couldn’t make anything out at all. I felt completely alone and very scared.

When I was eventually seen, about an hour and a half after I’d arrived, I was in and out of the consultant’s room in 5 seconds flat. I found the doctor to be very rude and unsympathetic. No thorough investigation, no kind words, no nothing, just “your pressures are fine, we can’t work out why your vision is reduced, there’s nothing we can do about it. It’s probably end-stage glaucoma, go home”.

At this time it was midnight. They told me I’d have to go home and they weren’t able to arrange transport! I was scared stiff, stuck in Birmingham with no way of getting back home, my confidence had dropped as well as my vision, and I was really upset. If it was end-stage glaucoma then didn’t that mean I’d lost all my vision and not get it back? I felt completely lost, literally and mentally. I was taken up to a ward, where again i was ignored by nursing staff, stuck in the waiting room with a TV blaring out Gavin and Stacy. I was told to ring a taxi.

The next day, my parents drove to my university, collected me, and took me to Moorfields Eye Hospital.. I was seen straight away, as they considered vision loss a priority. The doctor there guessed it was my cataract. Thankfully I already had an appointment with my consultant in Moorfields that following week.

As soon as he saw me, he told me it was time for my cataract to be removed and put me on the waiting list straight away. Up until then the doctors had been reluctant to remove my cataract due to a bad experience I’d had with the other eye, and they always said they’d leave it until i could see absolutely nothing before they considered taking it out. At that point in time, I really had nothing to lose as the vision was so bad.

After the surgery (in January 2010), my doctor told me it was a good thing my lens was removed, as it was almost shattering in my eye.

I never made a complaint about how I was treated at the hospitals in Worcester and Birmingham but I felt like no-one could care less what was happening to me.

My recent trip to A&E  couldn’t have been more different. Both doctors I saw were so understanding and very caring, and it was clear they wanted to do what was best for me.

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A&E – Aniridia & Emergency: The good

So you know we with aniridia just love to keep everyone on their toes and love to be unique and confuse poor medical staff?! Well here’s my latest adventure story …

I was in the middle of a busy week camping and looking after 10-14 year old girls – late on Thursday evening, I went to settle my group of girls down for the night and noticed I was starting to have eye pain in my right eye (my ‘good’ eye). The pains were still there when I went to the de-briefing session and then they started getting worse when I went to meet with the other leaders and get hot choc and a cake before bed.

The pains were achey pains, more like glaucoma/pressure pains than corneal/dry-eye pains. The pains only seemed to be in one part of my eye though, which made me think maybe I’d got a scratched cornea. Occassionally I got shooting pains in my eye, these were the pains that worried me the most, they seemed random and nothing like I’d ever felt before. I was really scared that my retina was possibly detaching, as that happened to my left eye when I was around 17.

I told one of my friends that my eye was hurting and she asked me what I usually did when it hurt – the answer – “go to A&E” – I then promptly burst into tears – she’d only just come back from taking a camper to A&E with a suspected broken toe, plus it was late at night by now. I just felt like a total burden. Two of my friends convinced me however that going to A&E would be a good idea – “better to check it out and it be nothing serious, than to worry about it but do nothing and it does turn out to be serious”.

So we bundled into the car (me snuggled up on the back seat with my hot water bottle as a pillow) and drove the 1 and a half hour journey to  my local hospital (we thought it best to go to that one where the doctors would have access to my notes). I tried to get some sleep on the way but was too worried and in pain.

We arrived at the hospital around 1am and had to wait until 5am to be seen – apparently there were a lot of trauma cases that night, and a lot of serious accidents. We tried getting some rest in the waiting room and managed to sleep for about an hour or so in total – the time really did drag.

My name was finally called and I was in the middle of giving my medical history, when the dr was called away to attend to someone having a heart attack! So more waiting …

Eventually I had my pressures checked and sure enough as I’d suspected, they were high (27ish). So the doctor gave me some diamox immediately and put lacra-loob in my eye and went to call the eye specialist on call – who as it was early morning, was fast asleep and had to be woken up!

When the doctor said he was going to give me diamox I asked him for the slow release version but he said he didn’t think they had any of that, so I made my friend go out to the waiting room and buy me chocolate, because I can’t stomach the normal kind, as it’s so bitter/chalky tasting! My friend had just got back with the chocolate when the doctor returned and announced he’d found some slow release diamox in the cupboard! so I was very happy. Me and my friend shared the chocolate and that made us both feel better and more human!

The doctor said that I was lucky because I’d come on the very night there was a doctor who knew how to take pressures! I teased him and told him he’d have to be very clever to get an accurate reading due to the nystagmus!

The eye specialist was absolutely amazing when she arrived, I couldn’t have asked for a better doctor, straight away she started asking all the right questions, and even said she knew that my pressure measurements might not be totally accurate due to the thicker corneas. I was really impressed with her knowledge of aniridia!

So she took my pressures again, this time with an Icare tonometer, and the readings were 16/14. so the pressures had come down nicely, thanks mainly to the diamox. She said the surface of my eye looked good, not too rough – although she wasn’t totally sure because she had nothing to compare it with, having not seen me before and no pictures etc. She said however that my eye looked very inflammed over the site of my glaucoma shunts, especially the most recently placed one (which was in 2006). She discovered the shooting pains I’d been having, were actually pains when I was moving my eye or my eye moved, it really hurt to look down. Because of my nystagmus I can’t control my eye movement so whenever my eye moved I felt the pains.

My vision had reduced too. When I saw the first doctor, I couldn’t even count fingers! (my vision is usually around 1/60). When the eye specialist came she tested my vision too, but turned me around so I faced a different way and I was able to see ‘vague finger counting’, which was good news.

The eye specialist was pretty mystified as to what had caused the inflammation. She said she would give me tablets to reduce the inflammation – she went away to get then, came back and said “these are ibprofen” I started to say “I can’t …” and she finished off for me “take them because of your kidney problems, of course, silly me!” So she had to think of a plan B – and gave me Pred Forte drops to take every 2 hours but said if there was any kind of infection in my eye, these were the worse possible drops she could give me! She also decided that as I don’t tolerate diamox well that it would be better to put me on another drop, so she prescribed Saflutan – that meant alongside the drops I was currently taking, I’d be on all 4 different glaucoma busting agents (4/4).

So finally I was allowed to go, and we arrived back at the camp site just in time for breakfast. I slept from breakfast to just after lunch!

Then the following day (Saturday) I went back to the hospital for a check-up and the pressures had gone right down to … 9!! Plus the inflammation had gone down a bit too, but not completely and the eye generally looked a lot better (a lot less angry as the consultant put it).

So thankfully no trip to London to the specialist eye hospital needed just yet. I have to carry on taking the drops and be seen at the local eye unit by my own consultant in 2-3 weeks time. The eye specialist reckons the high pressures caused the inflammation. She said she’d been up all night worrying that she’d done the right thing and hadn’t missed an infection.

I definitely mean to write a letter to the hospital saying how good I thought the eye specialist was. I’ve obviously seen a lot of doctors over the years, and she is definitely one of the best I’ve seen. I instantly knew she knew what she was talking about and I could trust her, just by the questions she was asking. Definitely one of the best, if not the best A&E experience I’ve had. She was so good that some of her questions caught me off guard, like “You were on diamox back in November, why was it stopped?” and then when I said I couldn’t remember she asked if I tolerated diamox okay.

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Carrying the Olympic Torch: My moment to shine

Claire waving and carrying the Olympic Torch followed by a car and police motorcyclistSeveral months ago I had the honour of being nominated by the RNIB for the work I had done in my role as a Volunteer Campaign Co-ordinator to be a torchbearer for the London 2012 Olympics. I was chosen!

Finally the time arrived for the torch relay to reach Sunderland and on 16 June I woke up early and put on by bright white official track suit then made my way to my collection point with my husband by my side for support.

I sat nervously waiting for the events to get started. When everyone had finally arrived friends and family members all dispersed to find a place to cheer us on. We were given our debriefing. We got to have a go of holding the torch and were told exactly what was going to happen over the next few exciting hours.

After having our picture taken we got on our shuttle bus to take us to our first drop off point. On the bus the excitement began to build and everyone was now rearing to go. As we passed the increasing crowds outside we all waved and smiled overwhelmed with emotion.

Our numbers on the bus gradually decreased as one by one we cheered each other off the bus then moved onto the next point. Eventually it was my turn, I felt my nerves and excitement building as i approached the front of the bus and could hear everyone on the bus clap and cheer as I got off.

I suddenly felt alone as I was dropped off on a little island in the middle of the road with no one about as the crowds had all gathered further down the road on the pavement. My isolation didn’t last for long as people began coming over wanting to take my picture and asking if their child could have their picture taken with me which made me feel like a character at Disney World.

After a few minutes someone on a bike came over to introduce himself and prepare me to take my turn as the previous runner approached.

We performed the process referred to as a ‘kiss’ in which they transfer the light from their torch to mine. Before they could usher us apart we did a little country style dance.


Now all the attention was on me and the adrenaline set in and all I remember is starting to run and hearing lots of cheering from the crowds around me, some of which were my family and friends who had been waiting patiently for my arrival.

Suddenly I was steered towards the next runner and again we performed the ‘kiss’. Before I could be ushered back onto the bus a member of the crowd asked if she could take my picture then the staff whipped me away. It was really like being a celebrity.

Back on the bus as we continued the route picking up the rest of our group I began to feel tired and eager to get back to my family and friends but I couldn’t stop waving and smiling to the streets of crowds outside the window; I just wanted to enjoy every second because this really was a once in a lifetime experience. I feel so honoured to have been part of such an historic event, it is something I will never forget.

Claire’s mum, Mary who also has aniridia said “It was so nice to find out that Claire had been nominated by the RNIB Campaigns team. I was so happy and proud to hear that she had been accepted to become a torchbearer. Family and friends gathered near to the route where Claire would be carrying the torch. It was such an emotional and elating experience. We are all so proud of her.”

Claire carrying the Olympic Torch

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Claire’s introduction

Claire carrying the Olympic Torch

Living with a visual impairment all of my life and having to face a number of barriers I have come to be very passionate about making a difference and challenging the injustices faced by blind and partially sighted people. Which is why I am currently enjoying my role as a Volunteer Campaign Co-ordinator for the RNIB. I am lobbying and speaking up for other visually impaired people in Sunderland and across the North East, particularly about transport issues; I have been working closely with Nexus to improve accessibility on the Metro and other public transport.

I have also been hugely involved with the Hardest Hit campaign, in which I went to London for the march and to lobby my MP about my concerns regarding welfare reform. I also spoke at the Hardest Hit rally held in Newcastle last October.

Since graduating university with a BA in Health and Social Care I have gained paid work as a Volunteer Co-ordinator with the Sunderland and North Durham Royal Society for the Blind and as a Fundraiser for Sight Service in Gateshead.

I was also honoured to be nominated by the RNIB to be an Olympic Torchbearer and on June 16th I carried the torch with pride through my hometown of Sunderland.

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Canny Annie

You may have seen the news of the massive thunder storm over Newcastle on Thursday.  I knew there was some flooding because my PA had described some that on the bus we passed a torrent of water flowing fast down a steep road.

We checked the Metro was working to my house and she left me to head off alone.

Annie and I waited a long while to get on the Metro and it was packed. After 3 stops the lightning shorted out the power lines.

Annie and I waited an hour then I decided the only thing to do would be to walk.  I knew it was 4 Metro stops and would take roughly an hour to get home.  I have never ever walked 90% of this route I only knew which direction I had to head in and I had no battery left on my phone.

We quickly came across flooding where Annie sat to indicate that we couldn’t get through.  I spoke to people around who were saying was knee to waist height which meant I couldn’t walk through as it would have been too deep for Annie.

We took a couple of detours through housing estates to bypass the floods. Annie had to do quite a few off kerb obstacles because people had dumped their cars on the pavement.  Annie also seemed to be guiding me round the big puddles as my feet were hardly wet.

We got home after 55 minutes and I almost cried with pride that we have only been together 5 weeks and we were able to do something completely new to both of us in a very difficult situation.  It was very daunting heading out but I just had to trust her and keep listening out to work out what was going on.  I am very relieved we got home ok and I now realise it probably wasn’t the best idea.  We had already had a very challenging day walking past the scene where Annie was attacked by another dog and doing some work around Middlesbrough where Annie has never been before.

Thank you Annie for keeping me safe, striding out so confidently and keeping my newish Converse relatively dry! You were amazing and I am very proud.

Annie the guide dog laying on the floor

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The doctor told me my newborn baby girl was blind

Have you ever been punched in the gut?

Punched so hard that you can’t breathe, that you’re nauseous and you can’t think of anything but the shock?

That’s exactly how I felt on December 12, 2011 when the doctor told me my newborn baby girl was blind…

Read more on the Average Moms Wear Capes blog

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Edinburgh guide dog training: Qualifying and back home

On Wednesday I did one of the routes we had done many times over the two weeks with 3 people following. In my head it was the worst walk of the two weeks and I cried at the end. One of the people following was from kennels and she had done a lot of work with Annie and she cried because of how well Annie worked and how good she was. It’s amazing what two people can take from one walk. I am always very critical of myself and I want to be the very best that I can be.

Now I have had a few days to sleep on it I don’t think it was a bad walk and considering we are only two and a half weeks into the partnership we have come a long way. After the walk I was taken to my room where I signed on the dotted line and handed over the 50p. It’s always a proud moment when you have handed over the 50p and you know you can go out alone.

In the evening we had a meal to celebrate the end of class. It was lovely to eat somewhere different. I couldn’t have hoped for better people to share this experience with than the 3 lovely people on my class and the 2 trainers. We all got on very well and had a lot of fun and laughter. So thank you to everyone for keeping my spirits up even when I was struggling being away from home and with my mental health.

We have now been home a few days and we have done a big local route to the gym and the vets where we got soaked. Annie is starting to settle in. My mum came with Sandie yesterday and we took the two dogs to Tynemouth for a lovely free run. Sandie can’t play chase much because of her arthritis but she did play a little with Annie.

I will write more over the next few weeks as Annie settles in and learns some routes.

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1st European Conference on Aniridia: Day 3

Day 1 and day 2 had been the scientific conference. Today was for a wider audience: those affected by aniridia.  There were a series of short presentations, alternating between Norwegian and English. The English ones were slightly simplified, shortened versions of those given on the previous days.

One doctor said his colleagues dealing with patients with aniridia should have a “high level of suspicion” of problems and “test early” for them. He added “if an aniridic says there’s an issue, they are usually right.” However he also noted that aniridics are prone to report sight threatening conditions later than people with normal sight would because with their existing impairment they may not be able to detect the early signs.

Next there was a question and answer session with a panel of the doctors complete with English/Norwegian translation. .

The following session was all in Norwegian so we occupied ourselves elsewhere.

After lunch we said our goodbyes and headed out to be tourists. We strolled around the grounds of the Oslo fortress. Finally we walked to the train station. I said goodbye to Katie and her partner (they are spending more time holidaying in Olso) and got on the train to the airport. There I managed to use exactly all my remaining Norwegian coins on chocolates for people back home.

So now I’m on the mid-air free wifi I can post this final instalment.

Thanks very much to everyone involved in the conference for making it such a enjoyable and informative event. Looking forward to seeing you again some time soon.

Use the links at the top or bottom of this article to read about the other days at the conference.

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1st European Conference on Aniridia: Day 2

Saturday was full of presentations from various doctors and researchers.

Professor van Heyningen gave two talks about the genetic aspects of aniridia. This included looking at the full range of the effects of PAX6 mutation, plus aniridia without PAX6 mutations and what issues are actually caused or modified by other genes.

Dr Simpson described her investigation on aniridia gene therapy – a method to overcome PAX6 mutations so that the body can behave more normally.

Several people spoke about aniridic keratopathy, its cause of defective limbal stem cells, the pros and cons of current surgical treatments and potential medical approaches. The ideas of researcher Dr Lauderdale sounded particularly good.

In the evening there was a banquet. Three yummy courses were interspersed with speeches recognising the support of the conference sponsors and the long term hard work on aniridia of Hilde and Rosa at national and European levels. Afterwards we were treated to piano playing and singing in Norwegian, Swedish and English including a rendition of Scarborough Fair.

Use the links at the top or bottom of this article to read about the other days at the conference.

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