“I’m immensely proud of my loving little girl in every possible way, Probably her toughest personal challenge this year was learning to jump, due to her poor vision, but her persistence paid off.”
For Rare Diseases Day 2021, the key messages are; Rare is Many, Rare is Proud, Rare is Strong. We gathered stories to showcase how those with aniridia lead their lives, proudly and with strength. These stories will raise understanding of aniridia with members of our aniridia family and beyond.
Rhiannon’s mum, Teresa, kindly reached out to us to share her daughter’s story. Rhiannon is an outgoing young person whose passion for music and drive to learn has not been slowed down by her aniridia!
Rhiannon celebrating Rare Disease Day at the piano
Rhiannon aged 4 has aniridia, resulting in being severely sight impaired. She struggles with severe photophobia and doesn’t have the greatest depth perception.
Rhiannon is a bright happy little girl, who LOVES to talk (and talk and talk!) I am so proud of her confidence to start a conversion with a complete stranger, of any age and dearly hope that continues Our home is a bit like living in the London West End as Rhiannon is always singing… Never nursery rhymes… Usually made up songs (and some.of them are quite good!) or songs from the 90’s!
I am immensely proud of my loving little girl in every possible way, An achievement in the last yearis learning her phonics, starting to spell words counting up to 40, down from 10-0. Probably Rhiannon’s toughest personal challenge was learning to jump… Almost certainly a bigger challenge compared to her peers due to her poor vision, but her persistence paid off.
When I asked Rhiannon what she is proud of she replied “Playing the piano!” “
We at Aniridia Network are so impressed by Rhiannon’s passion for music and all that she has learnt at such a young age with aniridia! Well done on all your hard work!
“Aniridia affects all aspects of my life but I don’t doubt my abilities and continue pushing my boundaries“
For Rare Diseases Day 2021, the key messages are; Rare is Many, Rare is Proud, Rare is Strong. We gathered stories to showcase how those with aniridia lead their lives, proudly and with strength. These stories will raise understanding of aniridia with members of our aniridia family and beyond.
Faith kindly reached out to us to share her story of how proud she is herself.
Hello.
Hi name is Faith and I was born with sporadic aniridia. I am 39 years old, I’m a wife, mother, and in my line of work I’m a licensed massage therapist.
Aniridia affects my daily life in that I have to consider my surroundings when with other people. If I’m alone I will keep shades closed and use very little light. If I’m with my family I will have shear shades closed to help reduce glare but still allow them to enjoy the daylight.
It has also caused me to be very detailed on how I conduct my day. If I need to go somewhere I have to choose my preferred transportation, time restraints, weather, time of day, and safety precautions.
Honestly, aniridia affects all aspects of my life but I don’t let it define who I am. This last year because of the pandemic I lost my job and have had to stay home with my son to assist him with his virtual school year. I’ve learned that I can adapt when I was fearful I would be unable to assist him. I’m really proud because he’s done very well and I find I’ve been able to navigate tasks the other sighted parents have struggled with. I try and remind myself not to doubt my abilities and that I need to continue pushing my own boundaries.
The pandemic has been such a struggle for so many people but it is so heartwarming to hear how Faith uses the strength and resilience, aniridia has given her to be a truly proud parent.
Laura, who has aniridia, kindly reached out to us to share her story. Her passion for sport and strength to support others to find the enjoyment she has, shines through.
For Rare Diseases Day 2021, the key messages are; Rare is Many, Rare is Proud, Rare is Strong. We gathered stories to showcase how those with aniridia lead their lives, proudly and with strength. These stories will raise understanding of aniridia with members of our aniridia family and beyond.
Me at the end of the season at the Devon Ability with trophy for Tavistock Specials Ladies. We won the Fair Play Award!
I am 30 years old and I was born with aniridia.
I struggle with having dry eyes. Sensitivity to any lights, cloudy days and when the heating is on is when I would use polarised sunglasses to help with this.
I’ve not let it affect me. I play disability football for Tavistock specials ladies in a league called Devon Ability. I have been doing this for 9 years now. I also train with Newton Abbot Soccaability on a Saturday morning. Both are for all different disabilities and they organise a bright coloured football for me, which really helps. I have really enjoyed being with these clubs, they are really helpful.
I am doing a football coaching course in the future and possibly will be helping out with the juniors in training with Newton Abbot Soccaability on a Saturday morning, where I train with the adults.
I would also like to set up a football session for all different disabilities to get everyone involved and all different impairments. I want to support everyone and give them have the confidence that they can take part in a sport.
At my previous club I was judged a lot because of my visual impairment and it really affected. The new clubs are really supportive and given me so much confidence
Me on my 5000 miles in 500 days challenge to support Aniridia Network
At the moment I am doing a fundraising challenge to support Aniridia Network, 5000 miles in 500 days. I do 10 miles everyday. I have raised £143 for Aniridia Network so far. I have done 2080 miles so far. It started back in August 2020 and will finish in December 2021. Anything is possible!”
Thank you Laura for sharing your story with us. Your strength to support others is admirable and we are so glad to hear about the successes you have found in coaching others!
Me with my football coach. We are both at different clubs now. We get on so well, he has helped me a lot and I have helped him out coaching too. We won the league, didn’t lose a game and everyone called us the dream team! He has always encouraged me to do coaching.
Today we and the whole world will celebrate Rare Disease Day. The themes of the day are;
Rare is Many,
Rare is Strong,
Rare is Proud.
It’s a chance for us all to raise awareness of aniridia and what it is like to live day-to-day. As individuals we will be sharing our stories and showcasing our achievements. As an organisation we want to share in your reflections and give them a platform to a wider aniridia and rare disease community.
Below are a few ways you can celebrate Rare Disease Day on Sunday the 28 February 2021. Join us in raising the profile of those living with aniridia.
Share your Story
Rare Disease UK are asking individuals to share stories of how their condition impacts their life, to raise awareness. It’s an excellent opportunity for those with aniridia to have their voices heard. Please tell your story on social media using words, pictures or video. Tag us so we can share it with the wider aniridic and rare disease community!
Introduce yourself introduction followed by how aniridia impacts your day-to-day activities (school, work, hobbies). Ending with something since last February that you are excited to share with others or you are particularly proud of. Focus on the themes of Proud, Strong, Many when writing about how living with aniridia makes you feel.
It can be a couple of sentences or a paragraph. Consider adding a photo or two of yourself and what you have written about. Here is an example:
Aaron
“My name is Aaron and I am a young person with aniridia. I also have Nystagmus. Having aniridia means that I was born without irises. Both affect how I see the world and how the world sees me. I enjoy volunteering, watching Youtube videos, listening to music and meeting my friends.
Having Aniridia does have an impact on the things I enjoy doing with my job included in this. I work in the charity sector within a very supportive organisation. My aniridia means that staring at a screen for long periods of time can cause my eyes to become tired quickly. I also take longer to read and do practical tasks online due to my eyes adjusting to following different lines of text as well as my use of a magnifier on my computer.
I have found my new job to be very supportive and open to the reasonable adjustments I take to work comfortably like taking breaks away from the screen and advising me on my time management.
I am very proud to be in this new role and to be able to have the opportunity to lead volunteers into community projects which matter to me. As one of my strengths is public speaking, I took the opportunity to do a presentation about my aniridia at work for my non-visually impaired colleagues this week!
Happy Rare Diseases Day. Please share your story of living with aniridia to raise awareness. @AniridiaNetUK #RareDiseaseDay #RareReality”
Social media
Share our and others posts about Rare Disease Day.
Write your own about your life experiences. Use ‘aniridia’ and the #RareReality, #RareDiseaseDay hashtags to be noticed in the world wide activity. Tag us so we spot it and can share with the wider community. This will help amplify your story and raise awarenes.
Facebook @Aniridia Network
Twitter @AniridiaNetUK
Instagram @aniridianetuk
Facebook frames and Twitter twibbons
These are graphics added to your profile picture to show support for a particular campaign. Rare Disease Day have one to add to your profile pictures to show support for the day
Example frame
Add a Facebook frame:
Go to your profile page and click on your circular picture
Rare Disease Day has produced banners for Facebook, Twitter, Linkedin and Instagram. You can either use these banners as a cover photo or share these banners in a post, tagging us and using the relevant hashtags. This would work really well for social media posts when you are sharing a story about living with aniridia.
Looking Forward
We look forward to seeing all the stories, celebrations and reflections from our aniridia community. Together we are many to raise awareness and we are most certainly proud and strong!
Medical information about aniridia, written for both patients and doctors is now available on a new website by Moorfields Eye Hospital.
Gene.Vision contains in-depth, but easy to read, details about aniridia for patients and their families. For example there is an overview of the eye’s structure for those without prior knowledge. It also lists current research and clinical trials in to treatments.
Alongside is scientific content aimed at clinicians and other professionals who are diagnosing patients or learning about the condition.
Gene.vision website
Professor Mariya Moosajee set up the site. As a practising consultant ophthalmologist specialising in aniridia, she said that she:
“has had countless conversations with families struggling to find the information they needed on their condition, including the appropriate care pathways, latest research and accessing social support. Often patients would report never receiving an explanation on what their rare disease was and how it was caused.”
She also hopes it will be used by GPs and other referrers to understand their patient’s condition and how to provide the best care plan, quickly and easily.
It was vital to test that the website could be used by everyone, especially those with all levels of sight loss and using magnification or screen reader software. A user focus group and testing session helped make iterate a prototype. So the final site is useful for parents, younger people and health care professionals. It adapts well to use on mobile devices too.
“The page speaks to a patient or a family member. I think it addresses the issues they want to know about. The content is not too detailed, digestible and easy to understand”
Parent of visually impaired child
“Gene.vision is easier to read and has a softer tone than Wikipedia. The layout is more user friendly as well”
Visually impaired person
Usability and accessibility testing session
Aniridia Network contributed to the website’s content. Trustee James Buller was a digital consultant for the project. He advised on development methods and checked the code for accessibility issues. He later took part in the trails too. This led to helping to edit a paper, that was later peer-reviewed and will soon be published in the Journal of Medical Internet Research.
“I have been advocating for a website like this for many years. A free, easy to use, authoritative, up to date aniridia resource is badly needed by our worldwide community. I am delighted to have played a part in making it a reality. I hope it will grow in size and effectiveness over time.”
James Buller
The website hosts resources relating to several other rare genetic eye diseases. Genetic disorders are rare, but together contribute to more than 60% of blindness among infants worldwide2. Inherited retinal diseases are the commonest cause of blindness among working-age adults generating a huge burden for those with the disease and their families.3
“It can be devastating for those receiving rare genetic diagnoses, and frequently patients are not provided with the accurate information they need. Unfortunately, there is also a lack of professional knowledge so patients are not always signposted to relevant resources for information and support, or offered the appropriate investigations, which could really benefit them in the short and long term.”
“Families deserve to know whether the condition could reoccur in future pregnancies or be passed on to the next generation, or if there are clinical trials they could access. Receiving a genetic diagnosis can cause a great deal of anxiety and worry. Hence we needed a trustworthy open-access knowledge resource that complements other credible and accurate information already out there.”
Professor Moosajee
Dr Mariya Moosajee
Gene Vision was developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation) at Moorfields Eye Hospital in 2019/20. It went live on 1 December 2020.
Key medical charities including Microphthalmia, Anophthalmia, Coloboma Support, Aniridia Network, International WAGR Syndrome Association, Nystagmus Network and others have also inputted on content.
Liew G, Michaelides M, Bunce C. A comparison of the causes of blindness certifications in England and Wales in working age adults (16–64 years), 1999–2000 with 2009–2010 BMJ Open. 2014 Feb 12;4(2):e004015.
This year’s Aniridia Day was more important than ever. The absence of our usual conference, due to pandemic restrictions, made it vital to find another way of connecting aniridia patients with one another, and with those who support them.
We therefore held a special online conference, providing an afternoon of free, informative presentations and discussions about aniridia. Anyone was welcome to attend from all over the world, especially patients with aniridia and their relatives in the UK and Ireland.
Watch recordings of the event on YouTube.
We had fantastic speakers and time to ask questions and chat with people also affected by the condition, as we all celebrated international Aniridia Day together.
Achievements with Aniridia – Sinead Kane will give a motivating talk about becoming a lawyer, multi-marathon athlete and world record holder with aniridia.
Success at Aniridia Centre – Dr Natella Sukhanova will show how she has created an effective centre of excellence at the Research Institute of Pediatrics in the Central Clinical Hospital of the Russian Academy of Science.
Open conversation for all attendees
Perhaps other sessions, to be confirmed.
The event was also a substitute for the European Aniridia Conference in London, which is delayed until summer 2021.
The trustee board of Aniridia Network decided to suspend the voting element of this year’s Annual General Meeting (AGM) due to COVID-19 and logistical difficulties. We had already given notice by email and website post, that the AGM would take place as a video conference because of social distancing requirements. This still took place online.
As there were no new nominations, the only other agenda item to was to have been to reappoint Katie Atkinson as a trustee. It was her turn to ‘retire’ under a rotation system, despite serving only 2 years of a normal 3 year term.
The trustees looked at the practicalities of holding an election by post and email. They concluded that a postal vote would be difficult to run efficiently, cheaply and fairly. They also considered the Charity Commission guidance on cancelling AGMs and the context of the currently 4 out of 5 filled trustee posts. As a compromise, the board decided to hold the meeting but waive the requirement for Katie to retire this year. This avoided a vote but still put the team up for scrutiny.
We hope members understand this choice, which was not made lightly. We welcome your questions or comments about it.
The board will strive to work on issues relating to voting members, with the goal of proposing one or more solutions to members next year.
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.
Read details of what our officials, members and supporters did and our finances between 1 April 2019 and 31 March 2020 in the Aniridia Network Annual Report for 2019/20.
Thanks to great efforts by everyone who helped with these achievements
However, we continue to struggle to do some basic things well and rely too much on a few very active volunteers. We badly need more people to help us achieve our goals. Please volunteer if you can.
Trustees after the 2019 Annual General Meeting: Eleanor, Dave, Sarah, James, Kaite
Could you lead our charity to: ensure it runs properly and enjoys success?
We need all the help we can get. Don’t assume others will do it all or even as well as you could. We’re seeking new people to fill gaps on the Aniridia Network Trustee Board – how about you?
Trustees are the people who form our governing body. They are responsible for controlling the management and administration of the organisation. Trustees are volunteers and work together as a team, with collective responsibility for the charity.
Being a trustee is very rewarding but can be hard work too. It provides opportunities for personal development and improving employability. Trustees are not paid but are repaid out-of-pocket expenses.
Sarah Matthews who was elected last year is no longer a trustee so we have a space on the board which has up to 5 posts. We would particularly value anyone with: financial, fundraising, volunteer management or business development skills. We would also be very keen to talk to you if you could also help in these areas without being a trustee.
Current trustee Katie Atkinson is also due to retire by rotation as our constitution requires. She will be standing to be reappointed.
Six members got to speak with an expert who cares for lots of patients with aniridia and has a detailed knowledge of the field
A doctor who specialises in aniridia very generously offerred one-to-one calls with those affected by the condition, during the COVID-19 lockdown.
People with aniridia or their relatives, who are members of Aniridia Network, could request a 20-minute conversation with Dr Moosajee at Moorfields Eye Hospital to talk about the disease.
She specialises in genetic eye diseases and spends half of her normal working week, seeing patients in clinics with conditions such as aniridia. The rest of the time she researches its causes and is developing potential treatments, to hopefully benefit patients in future.
Mariya said:
Over this lockdown, I have continued my clinics at Moorfields but virtually, through video consultations and telephone calls. Being in contact with their specialist has provided my patients with a lot of comfort during this worrying time.
For the past couple of weeks, I felt I needed to do more to help people. Sadly, my intensive care skills are not up to scratch, although I may still be redeployed to the Nightingale Hospital. What I can offer is advice and guidance to patients with rare genetic eye diseases.
So I have reached out to Aniridia Network to offer a weekly “Ask the Expert” session exclusively to its members.
Every Thursday morning Mariya was more than happy to have one-to-one calls, to chat and answer any questions (or point people in the right direction) about the following:
aniridia
connecting with specialist services
accessing genetic testing
interpreting your genetic testing result
research and clinical trials that may be applicable
You did not have to be a current patient of Moorfields Eye Hospital or Great Ormond Street Hospital to request a call.
This was not a formal clinical consultation: Mariya didn’t take clinical notes or refer to previous patient notes. The conversation remained completely confidential. It was for a maximum of 20 minutes to allow her to speak to as many people as possible.
Mariya added:
I really hope you will find this helpful. It is a terrible time and we must support each other as much as we can. I look forward to speaking with you. Best wishes, stay safe and take care,
Aniridia Network is extremely grateful to Dr Moosajee for so kindly offering her time and expertise in this way to help people affected by aniridia.
Please let us know what you think of this initiative and what else we can do to help during the COVID-19 crisis.
