On the weekend of 7-8 September, Kieron Price ran 100 kilometers along the Thames Path in an incredible 21.5 hours. He raised over £900 for aniridia research via Fight for Sight.
He took on the challenge because his daughter Evie has sporadic aniridia. This naturally came as a big shock to Kieron and his partner when she was first diagnosed. But they are giving Evie every support, and they are very happy with the checkups and treatments that Evie is receiving at Great Ormond Street.
Evie is also coping well with the condition, as Keiron explains:
“Because Evie was born with it, she handles it like it’s part of everyday life. She copes and adjusts where she has to. Everyday this little girl surprises me. She’s aware that she has a condition, although she still doesn’t fully understand what it is, but she deals with it. She has asked why she doesn’t have blue eyes like Mum, Dad and now brother so trying to explain the reasons why can be sometimes difficult.
We know the condition won’t define who Evie is and will encourage Evie to try new things. Nor will it stop us to try and find a way to slow it down, stop it, prevent it and hopefully one day cure this disease.”
A huge well done and thank you to Kieron on his achievement! Everyone who knows him is so proud for him.
Teresa & Vaughan Kay, along with their friends Thomas Thorpe & Vicky Grimmer, have challenged themselves to a summer of fundraising, by taking part in 4 big cycling events. And half of all the money raised will go to the Aniridia Network.
So far they have successfully completed 3 events, raising nearly £850 for Aniridia Network:
5th May 2019 – Tour De Broads Spring, 100 miles – completed in 6 hours 20 minutes
7th July 2019 – Norwich Cycle Swarm, 70 miles – completed in 4 hours 40 minutes
18th August 2019 – Tour De Broads Summer, 100 miles – completed in 6 hours 40 minutes
Their final event – the Dusk til Dawn 12 Hour Mountain Bike Night Race – takes place on 5-6 October 2019. Please support them if you can.
They’re doing it for their daughter Rhiannon. She has aniridia, nystagmus and cataracts, and is a “happy, smiley, chatty little girl”. She also loves her regular music sessions, where she has made many friends who are also visually impaired.
Teresa & Vaughan attended our conference last year, where they met others with aniridia for the very first time and enjoyed the various speeches. We also helped them compile a “Pupil Passport”, to help teachers and other care-givers understand Rhiannon’s condition and support needs.
Already their efforts have raised a lot of money and awareness, including appearances on ITV Anglia News and BBC Look East, and articles in the Daily Mail, The Sun and local newspaper the Eastern Daily Press.
We are very grateful they have been inspired to fundraise for us this year, and we wish them all the very best of luck with their final event!
Getting to know each other sesion at Aniridia Network Conference 2019
My name is Haya. People are often curious in what I do and how I got to university with developmental delays. They ask me what my hobbies and interests are and the general
questions that you ask a person in their early 20s. Add a vision impairment and it makes for some rather interesting questions. Growing up everyone has struggles, but even more for disabled people.
Being visually impaired I do not get out much. I am not saying I don’t leave the house, but I don’t do much when I do. Everywhere that is worth going has one problem: other people. There is too much light, too much noise or too many people.
I have been told countless times that I live my own little world, disregarding the importance of friendships and avoiding social interaction overall. Therefore I’ve had to go through the same stages where you try to figure out: who you are, what you want to do in life and where you want your life to go, just on a deeper level.
While I push through the journey of trying to improve my social and interpersonal skills, I’ve also have had to adapt many aspects of my life in this world which wasn’t suited to the needs of people with a vision impairment. I believe the world is made for the average and the majority: sighted people. That is not who I am.
Media perpetuated stereotypes, misconceptions and constant accessibility issues that we face on a daily basis cause some to feel a need to change ourselves to ‘fit in’ with society.
Don’t get me wrong, there’s also the positive side to living with a disability, there’s far reaching research updates to read up on and participate about your eye disorder. There are things I can do which others can’t. For instance I’ll know my way around a certain place better than a sighted individual. In addition, there are upcoming revolutionary improvements in technology and access to employment.
However, I’m not the one to sugar coat anything so I’ll give you an honest glance and accurate representation of what’s it’s like to live with a visual impairment in a specific scenario.
It is usually easier to take part in the world, interact with it, when there’s a really good reason. This June gave me a reason to try something different
Aniridia Network Conference 2019
Deciding to attend
The charity Aniridia Network holds a very successful confernce every year.
I would have loved to be at the previous conference, and I followed its updates intently online. But in person I would have found it almost too much to process, not just on an intellectual level but also an emotion level.
In the run up to this years event, I was in the middle of my exams. My emotions were
aroused and intense6. Life happened and I suddenly realised that again I was finding it difficult to motivate myself to go.
Finally, after talking to my visually impaired friends online I decided that even though half of 2019 had gone, I still had a chance to turn things around by going to the
event.
Not only did I want to understand my rare condition more, but also I wanted to feel
connected/united with people from different places through the love of accepting differences. I had just completed my first year at university and I felt throughout my studies that I thought about my disability a lot. The lack of support I was receiving reinforced this.
I met peers from many different countries, but once they realised I wouldn’t be able to get from A to B and that I had been so bombarded with ‘support meetings’ they stopped approaching me. My course was packed with students, I waited outside each lecture pretending to look around to see if I could find those I knew, but still no luck. I didn’t text as an alternative because that would increase the ‘realities’ of my shyness and stress.
Attending
At the Aniridia Network Conference 2019 I met several people pursuing or working in similar career paths to me, psychology and social work, or different ones like mathematics and engineering,
Some had aniridia run through their family, some were parents whose child recently got diagnosed with the condition . No one in my family has aniridia. It fascinated me to get to know how a mother and daughter who both have aniridia and so had different interactions and understandings of one another. I spent most of the lunch break with them, which truly left me with treasurable memories.
I also talked to Dr Ngozi after her speech to congratulate her on the work she has done to highlight the voices and the work of researchers. It has honestly been pivotal in my limited understanding of the developmental delays some people with aniridia
are affected by. I really admired her willingness to stay in touch with others despite being busy whilst she works at the leading Great Ormond Street and Moorfields Eye Hospital.
Video of Dr Ngozi’s presentation:
Miriam’s speech
My other highlight was listening to the speech by Miriam. From the start Miriam was full of hope. Not naive or unbridled hope, due to various health conditions, but a sense that a commitment to optimism and standing up for yourself would help to ensure that an individual can genuinely fulfill their potential and achieve.
Miriam’s speech was one of the most thought-provoking sessions at the conference, It challenged us to consider our position in the visually impaired community and reflect on other perspectives, opening our lens on the world. Her experience of aniridia was different to the others in the room, such as living with diabetes, using a wheelchair and an oxygen ventilator. I found her story (rather than disablity) inspiring.
Meeting people with aniridia
I haven’t met many visually impaired people, but I felt I related to those
affected by aniridia more than any others I have met in the past few years.
There was a patient discussion group, which I thoroughly enjoyed, as a variety of interesting topics were covered. This was very useful to compare everyone’s experiences, gather information and share advice such as about hospital appointments, mentoring schemes, research grants.
Patient discussion group
Miriam was a very proactive person in the group consistently giving input/feedback in a
confident manner. She informed us about organisations that helped visually impaired people improve their confidence in the workplace, such as Purple Space. She was very open when expressing herself and the importance of different topics. All this takes a lot of courage and resilience so I admire her for all her commitments on the day.
Later in the day, I was very happy to talk to two of the trustees of Aniridia Network. I got this opportunity by coming out of my shell and prompting myself. I believe if you don’t ask for things, you can’t gain anything. I thought to myself what’s the worst that could happen. If anything, they would understand me if I made a mistake because they have a visual impairment as well. At some point in their journey they would have lacked confidence, but now their confidence shines like it was never a weakness before.
I asked them if there was any availability of volunteering opportunities, because I wanted to make a difference in people’s lives and I was keen on starting to write blog posts myself. But I never found the right foundation or platform to start doing this, except utilising social media sites like Instagram.
Getting involved
The start of my volunteering with Aniridia Network is by writing this conference review and I would be thrilled to continue to in any capacity. The charity is run by volunteers and the growth stories they have are so engaging, inspiring and motivating
On the way home, I regretted that I didn’t get to speak to everyone in person. But the truth is everyone at the conference had brought with them intriguing unique stories and a myriad of reasons for engaging. The time spent with each individual added a layer of richness to the experience of being in their company.
Conclusions
Overall, for me, hope remains the abiding emotion of the conference. It resonated with those in the room and those following online. It is also a call to action to appear more in public, gather and share as much existing information as possible between now and the next conference.
With that all said, I would just like to say a huge thanks to those at Aniridia Network for maing the conference happen. I am honoured to write about how I thought this very important event went.
Aniridia Network trustee James and his wife set up a stall in their front garden as part of a local jumbletrail. Residents sell bric-a-brac and homemade food while neighbours explore the streets to pick up bargains. They sold a lawnmower, an iron and a vacuum cleaner, among other items, raising £65 for Aniridia Network in the process.
A couple of weeks later, James’ parents Peter & Lyn showed local guide dogs owners around their wonderful garden. This earned a further £40 in donations to Aniridia Network,
So thank you to the family for raising over £100 for us.
One of the things I struggle with is due to my visual impairment, is quickly identifying coins when paying for things.
I get flustered and often hand over the wrong coins because I’ve mistaken a 10p for a 50p. To avoid this, I tend to hand over a bank note or larger denomination coin and let the cashier give me change.
The problem is that I then end up with a wallet full of many small coins – making the problem of finding the right coins even harder next time! It also makes my wallet bulky and heavy.
So I regularly take out all of the 1, 2 and 5 pence coins from my wallet and put them in jars.
The 2 pence coins I can get rid of and have some fun with – by putting them in the pusher machines at the seaside. Of course, I’ve never won anything though!
The 1 and 5 pence coins are harder to get rid of, however. Neither I or a cashier wants to count them and there is not enough to take to a bank. A quick Google gave me the answer.
So now when I need to pop out for bread or milk, I head to the local supermarket with all my small change. When paying I go to the self-checkout machine and feed in all my coins! It laps them up and does the counting automatically. Obviously, another option is to find a charity collection tin to put them in!
Research has begun into whether the severity of aniridia can be linked to variations in genetics. The scientists need patients to take part.
Dr Moosajee has been given money from the UCL Therapeutic Acceleration Award to
document the medical history of 150-200 Moorfields Eye Hospital aniridia patients. Understanding this will help identify reliable outcome measures for clinical trials, and which patients may be more suitable for certain treatments.
There is a great deal of variability between aniridia patients. Some are severely affected by corneal clouding from childhood requiring corneal grafts, while others maintain clear corneas and good vision into adulthood.
Aniridia can be caused by many different types of defect in the PAX6 gene as well as other genes. Dr Moosajee wants to identify if there is a link between the genetics and the severity of aniridia, plus what would be the best management and treatment for each patient.
For example, she wants to investigate the link between anirdia and diabetes and weight.
The PAX6 gene is thought to be involved in the development of the pancreas during pregnancy, and there have been increased reports of diabetes and obesity amongst aniridia patients.
She will be taking blood from 25 aniridia patients and looking at all the contents of the blood such as fats, sugar, protein, carbohydrates, vitamins. She hopes to find evidence for or against the anecdotes, and potentially identify a way to use blood samples to monitor the effects of taking a drug like ataluren orally.
“I feel like there is a spotlight on aniridia-related research and I am very grateful for all the funding and support I have received to expand our knowledge boundaries by adding to our understanding of the condition, whilst also supporting therapeutic developments so they reach the patient as soon as possible.”
Dr Moosajee would be very grateful if Aniridia Network members could take part in the studies. She is particularly looking for patients with nonsense mutations in the PAX6 gene.
If you are already a patient at Moorfields she will be in touch with you.
If you are not a patient at Moorfields:
If you have a genetic testing result that says you have a nonsense PAX6 mutation, or you are unsure what type it is, contact her at m.moosajee@nhs.net
If you have not had a genetic test ask your GP to refer you to Dr Mariya Moosajee, Department of Genetics at Moorfields Eye Hospital, and she can arrange it.
Dr Moosajee sits on the scientific committee for the European Aniridia Conference 2020 taking place in London. She is looking forward to giving us an update about all the great research she is undertaking at that event.
The proposed book is the result of a photography project called Same But Different by Ceridwen Hughes. In recent years she has produced a beautiful website of words and pictures with the emphasis on the children, bringing out their personality and positivity rather than simply focusing on their conditions.
Following promotion by Aniridia Network in 2015, Faith and Mari who have WAGR were photographed and depicted on the website. They will appear in the book too, if it gets enough pledges of funding from by people like you.
The Kickstarter campaign’s goal is to fund the publishing of a large scale, hardcover, coffee table book titled, ‘Celebrating Difference – a rare disease journey’. It will consist of the children’s photos and stories on the website and many more not previously published. It aims to make people more aware of what it means to be affected by a rare disease whilst giving such people a stronger voice in the community.
“Using powerful portraits to capture the person behind the condition and sharing as many stories as possible, we can make people think and look beyond their first impression. The joy and happiness of each child shines through whilst their families discuss their own personal rare disease experience.”
We’ve said thank you for the great efforts of our volunteers by giving them soap. We also sold some to members to raise money. There’s a nice little story behind this oddity.
The liquid hand soap is made by visually impaired people in East London as part of the brilliant social enterprise called Clarity. They supply John Lewis and Fortnum and Mason among other stores.
James outside the Clarity factory
They recently, very generously offered fellow charities free boxes of their product, when technical issues meant it could not be sold. Trustee James claimed one since Clarity is based close to his home.
The 12 bottles inside turned out to be unlabeled. So we appealed for a designer to create our own. Gavin who runs Foxy Design Studio volunteered because of his family link to a child with aniridia.
After a few iterations, he created a lovely design featuring a black iris flower making the link between the floral scented soap and aniridia! The label on the back contains all the required details of the soap plus acknowledgement top Clarify for the kind gift.
He then found out about producing waterproof labels and used his own money to pay for them to be printed. Thank you Gavin!
Once another volunteer, Zoe, had stuck the labels on the bottles it was time to take them to Conference 2019 in Birmingham.
During the charity’s annual general meeting the official’s presented their annual reports. When it came to acknowledging the excellent efforts of those who had helped during the year, James recounted the story above. He then handed out a bottle of soap to each of the volunteers who were there as a present. They were very surprised and pleased with the gesture.
Fortuitously it was also the start of Volunteers’ Week, a chance to celebrate the fantastic contributions millions of volunteers make to organisations across the UK.
A big thank you to Clarity and everyone involved in this little project. Our ongoing immense gratitude to anyone who gives their time and skills to making Aniridia Network a success.
Kindly donated by Clarity
Clarity Employment for Blind People is a registered charity number 210794 and one of the UK’s foremost social enterprises, employing training and supporting people with disabilities to creating-quality toiletries, soap and cleaning products.
tell everyone what it is possible to do with a visual impairment
come together to show there are similar people nearby
fundraise and volunteer to enable us to hold a massive event next year
Whatever you do, do it in style: go online to order branded clothing and other merchandise from the new Aniridia Day shop or Aniridia Network shop. All sales raise money for science on aniridia.
#CanDoWithAniridia
What Jessica #CanDoWithAniridia
On social media on Friday 21 June, share a photo/video with an explanation that shows what can be done as a job, hobby, sport or education – while living with aniridia.
Gathering with others living with aniridia is lots of fun. Take the initiative: tell us when and where Aniridia Network members should go to chat with you and we’ll advertise it to those nearby.
Ideally events take place on Aniridia Day but other dates are good too.
The following meet-ups have already been arranged, please go along or organise one of your own:
It will bring together the world’s top aniridia doctors and researchers to improve treatments. The benefits will be felt by all patients worldwide, through the impact of clinical guidelines, scientific articles, and research projects.
We urgently need £40,000 to make it possible to bring together world top aniridia doctors and researchers to improve treatments.. Please do something to help reach that target such as:
Change to a trust where there are no voting members and governance lies with the Trustee Board.
Any other resolutions proposed
Appointment of charity trustees
To appoint the following (tbc) as trustees 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:
The AGM 2019 was a session at Conference 2019. Members could come to the AGM for free but to attend other sessions the conference ticket fee had to be paid.
Trustee nominations
Dave McKay
I am a good communicator with good verbal and written, problem-solving,
organising and leadership skills as well as being a team player with the ability to use
my own initiative. I believe in fairness, respect, and equality for all. I have experience of working in a highly regulated corporate environment and understand the need to adhere to both external and internal regulations, having worked in the financial/banking sector for over 10 years. I have an outgoing yet professional personality, enthusiasum and a willingness to learn and self-develop, I have been described as a responsible, caring, understanding, supportive and friendly person who is willing to help others achieve success, independence and confidence both in their professional and personal lives. I have interests in public transport, theatre, cooking, walking and cycling. I will bring all this and more to the position of trustee and Aniridia Network leadership team.
Sarah Matthews
I have lived with aniridia for over 50 years and am the mother of 2 children who have
inherited aniridia from me. For me, aniridia is an important integral part of who I am which I now embrace. I embrace it because it has positively contributed to me becoming
the strong, resillent, independent, super problem solving and some might say bolshie! (but I prefer wilful, persistent and determined) person I am today. I am a social worker by trade, so understand well how to support people to attain their rights and entitlements. I have worked in management roles in the voluntary sector for 14 years, the last 8 of which have been in business development roles securing significant funding for charities.
Join the Trustee Board
Trustees are the volunteers who form our governing body. They work as a team and are collectively responsible for controlling the management and administration of the charity. Being a trustee can be hard work, but also be very rewarding and provide great opportunities for personal development and improving your employability.
He took on the challenge because his daughter Evie has sporadic aniridia. This naturally came as a big shock to Kieron and his partner when she was first diagnosed. But they are giving Evie every support, and they are very happy with the checkups and treatments that Evie is receiving at Great Ormond Street.
Teresa & Vaughan Kay, along with their friends Thomas Thorpe & Vicky Grimmer, have challenged themselves to a summer of fundraising, by taking part in 4 big cycling events. And half of all the money raised will go to the Aniridia Network.
One of the things I struggle with is due to my visual impairment, is quickly identifying coins when paying for things.
He then found out about producing waterproof labels and used his own money to pay for them to be printed. Thank you Gavin!
