Funding for aniridia drug research in Aberdeen

The charity Fight for Sight is funding scientists at the University of Aberdeen to test two drugs for the treatment aniridia.

The team will determine whether taking either of the drugs by mouth or as eye drops can restore levels of a vital protein to normal levels. If successful the study could lead to future trials to test whether the drugs can reverse symptoms in adults, or even prevent them from occurring in babies.

The research will be led by Professor Martin Collinson who is part of our medical advisory team.

Man pointing at projection showing a large eye

Martin Collinson presenting at Aniridia Network Conference 2015

 

 

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Channel swim fundraiser

Nicola swimming towards French cliffsA woman has raised £2,629 for people with aniridia and WAGR syndrome by completing a gruelling swim across the English Channel – at the second attempt.

Nicola S Morgan took on the challenge to help buy a £1,800 electronic magnifier for 7 year old Mari who has WAGR. The remaining £600 collected was split between Aniridia Network and International WAGR Syndrome Association (IWSA) – support organisations that Mari and her parents are members of.

Nicola’s said

“A massive thank you to the people who donated for little Mari – thank you guys, it means a lot. Surround yourself with supportive people and surround yourself with people more successful than you’’.

Swimming

Nicola only learned to swim in 2011 – by teaching herself. She had a desire to understand the power of mindset and resilience, so set herself the huge goal of swimming the ‘Mount Everest’ of swims from Dover to Calais. It is an accomplishment completed by only around 1,800 people, just 36% of them women.

1st attempt

Nicola swimming in the ChannelIn 2017 she started near Dover and spent 14.5 hours in water. She was pulled from the sea just 4 miles away France, as she was stuck in a relentless current.

She felt she had let herself and the crew down. However, a comment from the support boat’s captain convinced Nicola to try again: “You haven’t failed, it’s just unfinished business”.

Training

For the past two years, Nicola has trained tirelessly in seas, lakes and swimming pools –sometimes for over 8 hours a day, a few times a week. She acclimatised herself with ice baths, and developing her swimming technique.

Throughout the long and difficult training, Nicola has relied on the strength and support of her business partner, Einir Williams at NSM Training and Consultancy. Einir has also spent many months of her own time attending practices across the country – always there to give her support and motivation.

On the night of the 2nd swim, Einir was one of the key members of the support team on the boat ‘High Hopes‘. They monitored Nicola’s progress, prepared her feeds and gave her constant encouragement to continue, such as ‘‘it’s your turn to win’’. Nicola knows that she could not have achieved her goal without Einir by her side throughout the entire process, and would like to give a special thanks to her.

2nd attempt

The next try began at 11.04pm on 16 July 2019. It involved swimming in the pitch black night, in chilling 8 degrees Celsius water, through swarms of jellyfish. Nicola developed a shoulder injury within the first 6 hours. Not an enjoyable experience! The next day, after 15 hours and 46 minutes Nicola succeeded in the phenomenal task. Her 33km exhaustive swim ended with cheers from locals on the French beach.

An amazing feat such as this requires dedication, courage, and an unbreakable level of resilience – skills which Nicola advocates strongly to everyone she meets.

Find out more on the challenge Facebook page.

Beneficiaries

Mari

Mari on a sandy beachNicola was mainly raising money for Mari, from Caernarfon in North Wales.

Mari has aniridia as part of the extremely rare WAGR syndrome. At just 7 years old, she has already had 11 surgeries. When only 12 days old she was rushed to hospital for an operation on her bowel. A few days before she was 1, doctors discovered she had 7 tumours on her kidneys. A year of chemotherapy and surgery followed to deal with this cancer, which can develop as part of WAGR.

Her aniridia means she is registered blind, lacks depth perception and struggles to see in bright light, but can read very large text close-up – which she very much enjoys.

Although, her recent hospital check-ups have been she is at risk of tumours returning and losing more sight.

Mari is a loving, caring and affectionate child who charms everyone she meets. She is very determined and has relied on her resilience to find her own way of doing and enjoying things. She is very much like any other child who enjoys swimming, crafts, dancing and riding her sccoter! Mari’s parents are keen that she is treated like any other child who simply needs a bit more supervision to ensure her safety. In her short life she has been through so much but she is such a happy little girl, she is really tough and doesn’t complain about anything.

Mari attends a mainstream school and loves it there. She has additional support and is learning braille. She requires learning aids and equipment to support her with her learning.

After hearing of Mari’s story, Nicola was determined to achieve her goal and raise as much money for Mari as possible on the way.

Electronic magnifier

Mari using the Optelec HD

Mari’s parents were raising money for an Optelec Clearview HD. It is a video magnifier that enlarges the text and images on paper to a size Mari can see.

With the sponsorship Nicola earned they were able to buy this life-changing piece of equipment for £2,800.

Using the device, she can now read and learn more, two activities she loves. This will help her gain independence.

Mari’s mum Caryl said:

“Thanks Nicola for your kindness and bravery swimming the channel!
Mari loves her new Optelec, here she is reading before bed…🥰 xx”

There was still money left over and so this was split into donations to two relevant charities.

International WAGR Syndrome Association

IWSA promote knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected, in an effort to improve their lives.

It is a not-for-profit organization, comprised of a network of families, health care professionals, educators, and others who care for individuals with WAGR syndrome. Its members are located all over the world.

Aniridia Network

We are a charity that supports people with aniridia in UK and Ireland.  We helping people with aniridia as well as their families, doctors and teachers to be: hopeful, confident, supported and well informed about aniridia and related issues.

Membership of both organisatiosn is free. Their funding for the organization comes from donations and fundraising activities led by member friends and families.

In October there was a donation handover ceremony. Former Aniridia Network trustee Emily received the £300 cheque and said:

“Well done for your amazing feat. This money will help Aniridia Network help families just like Mari’s with providing support and education and help all those people with aniridia achieve their goals too.”

The money will go towards organising supportive events for patients, subscriptions, grants for research into sight saving treatments, and creating information leaflets/newsletters. It will make a big difference to people with aniridia.

Massive congratulations and thank you again to Nicola on her achievement and generosity.

Welsh version of acceptance video

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Send Christmas cards by aniridics to fund treatments conference

Are you planning to post Christmas cards to your friends and family?

We suggest you send our e-cards instead and tackle aniridia too!

The cards even have lovely designs by children from around the world who have aniridia. Send us your design to include.

Christmas cards in emails send a happy seasonal greeting, plus you:
1. save time and effort by not buying, writing and posting paper cards
2. save trees and energy by not using paper for cards and envelopes.
3. improve treatments for aniridia by donating the money you would have spent, to make the European Aniridia Conference possible.

You choose the how much to donate when sending ecards.
Please be generous, but all amounts make a difference.

View and send our electronic Christmas cards.

Raising money for a European Aniridia Conference

Aniridia Network fundraising for European Aniridia ConferenceThe money donated will be used to host the world’s best eye doctors and scientists, plus patients and relatives, at a big UK conference. Together they will make vital progress on new treatments and share expertise to prevent sight loss caused by aniridia. 

The conference will be in London 14-16 August 2020 by Aniridia Network. Everyone is welcome to come. Register your interest, save the date in your calendar and look out for more details coming soon.

Add your own card design

We would like to offer more Christmas card designs by people with aniridia. Send photos/scans of artwork to communications@aniridia.org.uk. We will upload the best ones for anyone to use in their cards. Your design could go around the world!

Your design here card demonstration

Everyone at Aniridia Network and Aniridia Europe wishes you a very Merry Christmas, spent in a way that you enjoy, time to recharge and a successful year to come.

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Scotland & London Meet-Ups

This month we held 2 successful meet-ups in different parts of the UK, bringing together a variety of people affected by aniridia.

In the north we were proud to hold our first ever event in Scotland, when trustee Eleanor Burke welcomed 11 people to the Best Western Kings Manor Hotel in Portobello, Edinburgh for an informal get-together.

Group photo from Aniridia Network meetup in Scotland, in November 2019.

A young girl smiling and wearing sunglasses, while holding a white teddy bear. The bear has a red bow tied around its neck, and is wearing a white t-shirt featuring the Aniridia Day logo.Attendees ranged from parents and their children to couples and individuals, including a gentleman from RNIB Scotland. Everyone received a welcome beverage, and over the next 3 hours they all enjoyed networking and discussing their various experiences of living with aniridia. The children also got to play with a very special Aniridia Day teddy bear, which one lucky 5-year-old was able to take home.

In the south-east, meanwhile, we once again held a social gathering after the Sight Village exhibition in Kensington, London. A group of 9 people, hosted by trustees James Buller and Dave McKay, met for drinks at Pret, before moving on to Bill’s restaurant for a nice dinner. It was a lovely evening of socialising and shared stories of life with aniridia.

Thank you very much to everyone who attended these meet-ups, making them so enjoyable, informative and worthwhile. And big thanks to our trustees Eleanor, James and Dave for hosting them. These events are always a fantastic opportunity to meet others with the condition.

A lady and gentleman at the Aniridia Network meetup in Scotland in November 2019

We are hoping to repeat both of these meet-ups again next year, and we will of course share the dates and locations with you nearer the time.

But everyone is welcome to organise aniridia meet-ups in their area, and we highly encourage you to do so. Once you’ve arranged a venue, date and time, please do let us know and we’ll help you to advertise it. The more opportunities we can all provide for people with aniridia to get together, the more it benefits our community through networking, support and shared experiences.

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100km Thames Path Run Fundraiser

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.

Kireon on a finishers podium wth a medal

 

Map of troute along the ThamesHe 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.

You can still show your appreciation on his fundraising page.

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Summer Cycling Fundraiser

Rhiannon wearing a wooly hat with large colourful bobbles by each ear and on the top.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.

Rhiannon smiling as she rides a pink bike.

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!

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Haya’s journey to an aniridia conference

Haya and people affected by aniridia talking around a table

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.

8 people with aniridia sitting in a crescent

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.

Conference 2019
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Family fundraising nets £100

open-graden2019b

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.

Find out more about how you can help Aniridia Network.

open-graden2019a

open-graden2019c

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Dealing with hard to see small coins

1p and 5p coinsOne 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!

Problem solved.

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Research into aniridia symptoms link to genetics

Woman wearing a white coats in a laboratory

Dr Mariya Moosajee

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.

This project is in addition to Dr Moosajee’s research part-funded by Aniridia Network into the growth of eyes with aniridia and possible drug treatments. She said

“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.

Man pointing at projection showing a large eye

 

 

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