Graham’s story of life with aniridia and stem cell treatment

Graham has written a blog post about growing up in the UK with aniridia and losing sight due to glaucoma/cataracts.

He also writes about the recent initial success at restoring some sight by transplanting stem cells that began in his mouth, on to his cornea. He says “the eye is getting better every day”.

This operation was performed by Samer Hamada at Queen Victoria Hospital.

How much improvement there is and how long it lasts will have to be monitored.

Read Graham’s story about life with aniridia and treatment of related conditions.

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Scarlett’s sponsored walk

Scarlett and Rachel smiling

Scarlett & Rachel

Rachel’s 3-year-old daughter Scarlett has aniridia. Together they did a sponsored walk at Tiverton Canal Basins in Devon on 3 March, joined by family and friends.

Despite the rain, the walk was a great success, and they raised a fantastic £1198 for Aniridia Network!

Rachel says:

I enjoyed doing it and the awareness raised. I had half the town talking about aniridia & vision impairment who had never heard of it.

Scarlett enjoyed it despite the wet & windy weather. She jumped in every muddy puddle going. She was drenched and we were all very muddy!

And I’m pleased with the amount from the 3 weeks of fundraising. Thanks for all who helped and joined in.

Scarlett looking happy in her dark blue coat and dark glasses as she walks along the muddy path

Scarlett

Scarlett also painted some colourful aniridia rocks for people to find during the walk, as a way of saying thank you to everyone who supported her.

Rachel and Scarlett were also featured in their local newspaper, helping to raise even more awareness of aniridia. And you can still sponsor them to show your appreciation.

Many thanks to both of them for completing the challenge and raising so much money for the Aniridia Network. It’s very much appreciated!

Collage of photos showing rocks decorated in different colours by Scarlett, one saying Aniridia Walk. One photo shows the view along a grass-lined path by the river, and another shows Rachel and Scarlett together.

Scarlett’s painted rocks

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Professors’ Bremond Gignac and Rama message for Rare Disease Day 2019

To mark Rare Disease Day on 28 February 2019, two of the top specialists in Europe, made a commitment to keep researching aniridia.

Thanks to the French aniridia group Geniris for making this video, that we added subtitles to.

Also check out @welleyenever‘s brilliant photo diary, including insights into life with aniridia. It won a competition held for last year’s Rare Disease Day – congratulations. Be sure to check out his many other excellent blog posts too.

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1,000 Miles in 200 Days Fundraiser

1 thousand miles in 200 days. Laura walking while wearing a Aniridia Network tshirtLaura Cartmill has aniridia and autism, which presents challenges for her everyday life. But she hasn’t let her impairments get in the way of her ambition to achieve and inspire.

For example, she plays football at the Torquay United club for people with disabilities, which has helped her confidence to grow tremendously since she joined in 2012.

And now, at the age of 27, she has completed an amazing fundraising challenge to raise money for Aniridia Network.

Laura walked 5 miles a day to clock up 1,000 miles in 200 days. The sponsorship via her Just Giving page brought in nearly £600 for Aniridia Network and similar amounts for 5 other charities.

Laura said

To complete a challenge like this is incredible. I am so proud about doing this and it’s the most amazing thing I have ever done. This whole challenge has been a journey to inspire other people.  It is a special feeling,  if anyone has a goal to achieve just go for it. It can be done, you can do anything that you want to achieve. Do it your own way, anything is possible

The challenge started on 30 July 2018 and ended on 15 February 2019.

Now she is planning to go further:

I will be starting a new challenge on 1 August 2020: 5 thousand miles in 500 days. I will be doing 10 miles everyday by mixing walking and cycling. I am so excited already.

A massive thank you to Laura for doing this for us, and all her donors for their support.

Find out how you too can support Aniridia Network.

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Light stimulation centre wows child with aniridia

By Rob and Amelia

From about 5 months old our daughter, who has sporadic aniridia, has shown an interest in LED lighting.

After speaking with doctors at Moorfields Eye Hospital and more importantly, all the lovely people we met at the Aniridia Network Conference and on the Aniridic Family group, we decided to build a light centre!

 

We had some help from my wife’s workplace and family bought some of the parts for her birthday. Most of the equipment was sourced from Amazon and eBay. I designed the boxes and Amelia had them cut out at work using a laser cutter. Sabrina absolutely loves it and the older she gets the more and more she interacts with it. We hope it helps with visual stimulation but mostly we made it for her to enjoy it. Her favourite part is definitely the bubble tube which is relatively inexpensive. She also loves the disco lights and plays very intricately with the fibre optics; these are very sturdy and made especially for children who have autism or to give visual simulation.

Children who are visually impaired may not independently explore their “regular” environment. Providing a range of stimuli helps children to develop and engage their senses and supports their physical development. These stimuli can include lights, colours, sounds, sensory soft play objects and aromas.

If you can’t stretch to your own light stimulation centre, check out these toys which can help the development of children with visual impairments.

 

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Goggles and aniridia

Underwater photo of boy swiming with screwed up eyesSwimming is a very healthy and enjoyable activity, but with reduced vision and highly sensitive eyes due to aniridia, regular goggles may be of limited use.

Children, for example, may find it difficult to see their instructors in swimming lessons. And adults may be reluctant to go swimming if they feel goggles restrict their field of vision and fail to reduce glare.

The solution for many is to get goggles that are tinted or polarised or have prescription lenses. And there are various places you can look for these.

A local high street optician may be able to help or advise you, and there is no harm in asking. However, there is no guarantee they can supply them, and even if they do the cost may be prohibitive.

So it is worth shopping around further. For example, one parent on the Aniridic Family Facebook group recently shared her own experience:

“My daughter is a keen swimmer and was finding it hard in her lessons to see what the instructor was doing (the instructor always goes up close to show her). However, there are times where she can’t see what to do with normal goggles on. We went to Specsavers and they said there was a chance they can’t do it, or it could cost between £75-125.

After trailing the internet I came across a site called Prescription Swimming Goggles. I got my daughter a pair of mirrored ones. These are for outdoor swimming, but having just got back from Spain they were a godsend. My daughter’s swimming has improved dramatically, so much so that within 2 weeks she received 3 badges and was moved up a group. To make it even better they only cost me £25 and were delivered in 3 days. I even got myself a pair.”

Various other websites have also been recommended by people with aniridia and parents of children with the condition:

Speedo Goggles are made by the famous swimwear and accessories brand, and include coloured lenses and prescription goggles.

TYR Goggles have a wide selection available, including polarised lenses, and a Swimple range for children. Their international site even allows you to customise Swimples and other types of goggles in various ways.

Aquasphere Goggles are available for children and adults, including polarised lenses.

We also recommend searching for the “goggles” in Aniridic Family to find out what others have to say.

Underwater photo of boy wearing a scuba mask

 

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Inspired to study aniridia for a degree

Eve

Eve

In February this year I started the final module for my degree, a literature review of the latest research in my chosen topic. Suggested topics included stem cells and human senses (among others). I wanted to pick something that I could relate to on a personal level, knowing it would motivate me to do the best I could – so I chose aniridia.

I chose it because of my cousin, Allyn, who recently wrote a blog post about his aniridia and depression. Up until very recently, I didn’t know what it was. I knew he had trouble with his eyes and had undergone many surgeries. I knew he’d had stem cell therapy and a corneal transplant, but my knowledge ended there and I decided I wanted to know more, at a scientific level.

Al

Allyn

Growing up with Allyn, as part of a large family, I didn’t think of him any differently to any other cousin – he was loud, energetic, loved pizza and was pretty annoying on times. In recent years, when I realised how progressively worse his eyesight had become I wished and prayed for him to regain his sight, so he could live his life to the fullest. As a family we sat and awaited the news of how his latest eye surgeries had gone – when I heard that it had improved his vision and he told his sister “You’re just as ugly as I remember” (that’s our family’s humour for you!) I both laughed and cried, feeling overjoyed for him and hopeful.

So, I began my research. It was extremely obvious very early on that anirdia in its entirety was too large a topic. With the condition affecting multiple parts of the eye and me being restricted in my word count, I decided to solely focus on the cornea. I began looking at the genetic cause of aniridia and came across the term WAGR. Suddenly, everything clicked into place and made more sense. I remember my nan telling me that Allyn had had kidney cancer when he was a baby – she told me as she looked at the picture on her wall, of Allyn and his parents meeting Princess Diana on the hospital ward. I didn’t understand back then, but now I did and I cried. I cried for all he’s had to go through and I felt bad that I hadn’t sought to understand sooner. From this point onwards everything took on a new level of meaning for me.

In April I went to the Aniridia Network Conference in London and was delighted to hear Mariya Moosajee talk of her research – the very stuff I had been reading in isolation, at home. I looked around me seeing the wonderful support network created by those with aniridia. The dad of a young girl told me about how he practically diagnosed his own daughter with some basic knowledge of biology and the use of the Internet! I spoke with a mum who had travelled from Russia and heard about her efforts to support those in her care. I was inspired! Mariya also mentioned the drug Ataluren, a nonsense suppression therapy which I had just been reading about, currently in phase 2 clinical trials (expected end date of December 2019). After spending so much time reading about the low success rates for corneal transplantations, this seemed so hopeful. I was both excited about the prospects of the research but also saddened for those that it would not benefit – those without aniridia caused by nonsense mutations, such as Allyn.

Seated delegates at tables, watching a presenter and big screen

As my ‘project’ developed I became increasingly obsessed – seeking the best way to bring the information together and consolidate what I’d found. In the last 4 weeks of writing my review, my grandmother sadly passed away quite suddenly, leaving me distracted. Having started a new job that same week I became quite disheartened with my progress. I felt forced to reduce my scope and submit a piece of work that was not to the standard that I would have liked. I felt like I had failed myself and was letting down my family for not producing work of a high enough standard.

Well, the results came in last week… I was awarded a distinction for my work! Obviously I am happy with this, but more importantly, this project has helped me realise that I want a career helping others. I don’t think I’ll have a career in ophthalmology, but whether it be in research or something else, I want to help improve the lives of others by what I do.

Thank you, Allyn, for being my inspiration, my motivation and for the emotional support you have given me over the years. You were my shoulder to lean on when I needed it and I am so proud of you, for all that you have endured and achieved.

This post was reproduced from Eve’s new personal blog with her kind permission. Aniridia Network wishes Eve congratulations for her results and thanks for her contribution. We are looking forward to working more with her to improve understanding of aniridia.

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Orbit abseil fundraiser

James abseiling down the tower, which has lots of curving red girders and a helter skelter slide going around it. It is a free-fall abseil, so the rope has taken James diagonally away from the tower as he goes down in mid-air.Today I took a big leap to raise £1070 for aniridia. I abseiled 80 metres (262 feet) down the Orbit Tower in London.

It was organised by Moorfields Eye Charity, and I was very keen to take on the challenge. As I explained on my fundraising page:

“Every year I go to the world renowned Moorfields Eye Hospital for a check-up. As well as expert doctors behind the scenes, there are brilliant teams investigating possible treatments to preserve or improve the sight of people with aniridia. I’ve met many of them and heard of the amazing progress they have made.

I’ve even provided my eyes for their experiments. I’ve seen the huge difference these medical advances make too, personally with my recent cataract surgeries and from meeting fellow patients. Now I can help financially too.”

I decided to split the proceeds between Moorfields and Aniridia Network.

To get encourage sponsorship I posted a video on social media of me ‘abseiling’ from our loft as ‘practice’!

The big day was beautifully sunny. The ArcelorMittal Orbit is the equivalent of 26 storeys high, giving stunning views across the Olympic Park, including the stadium and aquatic centre with the London skyline stretching far into the distance.

James leaning back off the platform with blue sky and skyline behind him

Moorfield fundraising officer, James and another abseiler posigI was cheered on by my family and friends, volunteers from Moorfields Eye Charity and other abseilers (including Aniridia Network member Glen Turner, who was raising money for nystagmus research). The staff at the ArcelorMittal Orbit Tower and the abseil company Wire & Sky were very friendly, easing everybody’s nerves.

So with everyone’s support, I was able to nervously lean back, then step off the edge to enjoy this incredible experience. It’s known as a freefall decent because there’s no structure to follow down. I just hung in mid-air and let myself down.

James and another abseiler haning in mid air alongside the red girders of the Orbit tower

Immediately afterwards I said

“It was brilliant – a bit tense at first and then excellent fun. It was an awesome view and so quiet when hanging in mid air. Such a big thrill!”

A massive thank you to everyone who so generously sponsored me and spurred me on. In total, I raised £641 for research into aniridia at Moorfields Eye Hospital and £328 for Aniridia Network activities. This will make a big difference to many people’s lives, Thanks and congratulations as well to Glen and the others for also completing the challenge and raising so much!

If you get the chance to do this or another feat I thoroughly encourage you to go for it.

James standing at the foot of the tower, smiling with his arms raised

Celebrating victory after completing the abseil

 

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Five go to Paris for European Conference on Aniridia 2018

Five members of Aniridia Network travelled to Paris for a conference about the science and treatment of aniridia. They met the world’s top experts on aniridia and learned about their latest research and techniques. They also took part in a meeting of Aniridia Europe.

Group photo of the General assembly of Aniridia Europe

General Assembly of Aniridia Europe

The event was the European Conference on Aniridia. It showcases the latest scientific research, potential surgical procedures and drug treatments for aniridia.

It is primarily for doctors and researchers to meet and present their work to each other. It encourages debate, collaboration and sharing of knowledge. Patients and others interested in aniridia also attend. Together they form a winning community with the goal of finding effective long-term methods of fighting sight loss and other difficulties caused by aniridia.

The panel of experts seated on the stage

The conference is held every two years and this was the 4th occurrence. This time Katie, James, Eleanor, Dave and Allyn made the trip to France. The expenses of some were subsidised with grants from Eurordis via Aniridia Europe. Our representatives have also attended the previous events in Duisburg, Venice and Oslo.

In Paris, there were 205 delegates, including 75 professionals from 20 European countries and at least one from each of Asia, Africa and the Americas.

Group photo of the new board of Aniridia Europe

The new board of Aniridia Europe, including our chairperson Katie

It began on Friday with the General Assembly of Aniridia Europe, a meeting to discuss the organisation’s business and elect a new board of directors. Katie was successfully re-appointed.

“I am delighted to have been re-elected to the board, so we can further strengthen our important relationship with our international partners” said Katie.

Saturday was packed with presentations on a range of medical aspects of aniridia. Over 20 professionals spoke about their work and answered probing questions from their colleagues.

Later the speakers and other officials were treated to a gala dinner.

On Sunday morning the talks continued before the leaders of each topic session provided a summary.

The audience watching a presentation

“We were very impressed by the variety and standard of the presentations. They were really informative and comprehensive. We also made lots of great new connections, with amazing people doing superb work in hospitals and laboratories all around the world.  It is so exciting to hear of new and increasingly successful ways to team with aniridia and how we can support them.”

More photos from the event are available on Facebook.

Aniridia Network has offered to host the next European Conference on Aniridia in 2020. More details on that coming soon.

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Al’s sight loss and depression journey

 

AlHi, I’m Al, I’m 28 and I’m from South Wales. I have been registered as severely sight impaired (blind) since birth due to aniridia and nystagmus, caused by a rare missing gene that resulted in a condition called WAGR syndrome.

At the age of 15 months, I was diagnosed with a Wilms tumor, which is a form of kidney cancer. I managed to beat that battle at the age of 3 years old, but my sight battle had barely begun.

As a child my vision was very limited. However I could walk the streets, read books/papers/magazines, see people’s faces. With the use of aids such as magnifiers I lived a fairly normal childhood, with the exception of having a support teacher on hand. I was confident, and I was full of life.

At the age of about 11, cataracts started to form in both of my eyes. My vision started to become more blurry, but still I could do the things I had always done. About a year later the cataracts were both removed within about 6 weeks of each other and for the next 2-3 years I actually felt like my sight was the best it had ever seemed, though far from perfect vision of course.

When I was 14 I started to develop glaucoma in both eyes. With the help of numerous eye drops and surgeries to control the eye pressures by inserting shunts in to the back of my eyes, I managed to go on for some time without further major loss of sight.

At 17 years old I left school and by the time I was 18 I started to notice that my sight was getting even worse due to the glaucoma. By the time I was 20 I was on the waiting list to undergo a limbal stem cell transplant due to epitherial breakdowns on the surfaces of my eyes.

Following this surgery, I personally saw no significant improvement to my vision, but was told it could take up to 18 months to heal fully. While that stem cell transplant did help with the epitherial tissue breakdown to my eyes, it didn’t improve the vision and by the time I was 22 my vision was at the worst it had ever been so far.

With my sight getting worse and worse I became less and less confident and begun to withdraw myself from the outside world far more.

It was at this point that I first became involved with both Cardiff Institute for the Blind and the RNIB. I became both a service user and a volunteer. While still feeling very scared and really lacking in confidence, I soon begun pushing through those feelings, because I knew I was around people who understood and who’d probably felt the same once.

So I began taking part in activities and courses with Cardiff Institute for the Blind, I also became a volunteer and ended up co-running Visual Awareness courses and becoming a committee member in a County Steering Group. I also started to organise some of the events for a youth group that I was a part of and I was even asked to attend numerous meetings for both Cardiff Institute for the Blind and the RNIB, to give input and feedback, both as a service user and as a volunteer. It was as though I had a purpose again, as though I had a new lease of life.

Then, after about 10 months or so, once again more eye operations came along. I had orbital decompression’s and a cornea transplant lined up. Due to the amount of hospital visits etc, I felt I had too much going on and withdrew from Cardiff Institute for the Blind and RNIB. In no time at all I was back to my depressed, non-confident, old self.

The cornea transplant went ahead when I was about 25 and the vision did improve a little, but nowhere near to where my vision acuity was as a child. The regular hospital appointments continued frequently.

Lately though, I’ve been thinking a lot about things and have decided that, at least for now, I’ve had enough of constant operations and hospital appointments. I’m finally realising that I have to start to accept that my vision is never really going to improve much more now. So it’s time to start accepting that this is my life from now on and it’s time to start living again.
Don’t miss understand me, I don’t mean to put you off seeking treatment yourself, just that sometimes it’s ok to feel like you’ve been put through enough.

The big problem with me is that I’ve always struggled with being seen and treated as ‘different’. My pride has always got in the way of me being comfortable using things like a cane in front of people, for instance. This is still something I’m very much struggling with. By letting my pride get to me, I feel like I’m isolating myself further from the world in the process and that’s making my depression even worse too.

So, if you’ve read my story then firstly, sorry that it’s so long. Secondly and most importantly, the point I want to make is; if you have ever felt anything similar, then you are certainly not alone. I really implore you to take deep breaths and say ‘screw you’ to your pride and take small steps towards freeing yourself from the prison of your own mind. Reach out to Cardiff Institute for the BlindRNIB or any other sight charity. Just see what they can do to help you become the best you that you can be, I promise you will be surprised and you will feel much better for it once you have taken that first step. Sight loss is a terrible thing, but it doesn’t mean it’s the end of who you are, it’s just really, really hard coming to terms with adjusting. That is one of the scariest parts of any sight loss, but reaching out for help really does make a big difference.

Have a great day. Thanks again for reading my story.

 

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