The National Institutes Of Health have published an article and video about their study in to obesity and WAGR/11p deletion syndrome. It features Aniriida Network UK trustee James who took part as a ‘aniridia only’ patient. You can also read James’s account of taking part in the research.
We urgently need a keen, reliable volunteer to help us to organise our next conference. How about you?
The Aniridia Network UK Conference 2013 will be in London. Sadly Heather, who did the job last year, unexpectedly has to return to the USA next month. Despite this she has valiantly promised, to do remotely, what she can to set up the event. So we really really need someone to handle things in person here and on the day itself.
Don’t worry if you haven’t planned a conference before or aren’t sure you’d know what to do. The only requirement for volunteering is that you are willing to make the effort to perform the tasks and dedicate some of your personal time to working on it. We will provide the full details of how things were organised last year as a reference.
You would work together with Heather and other volunteers on all aspects of the event including:
Read the full Conference Officer job description. It is a very exciting role with a huge amount of satisfaction at the end. The gratitude expressed by delegates and knowing the difference the event has made to them is really uplifting. It’ll be an big achievement for you to shout about on a CV too.
Last year’s conference was a massive success. We are eager to improve upon it, but we can’t without your help. Step forward now and be a hero to the whole aniridia community in the UK.
To find out more contact Heather on 079 0022 3721 or conference@aniridia.org.uk
From left to right and top to bottom: Mark, Margaret, Keith, Andrew, Heather, Toni-Kaye and Adam at the London meetup 2011
The next aniridia meet-up will be a social evening on Wednesday 7 November 2012 in London. It’s the same date and area as Sight Village London. Like last time it’s going to be a “really interesting night”.
Everyone affected by aniridia, including relatives is invited to join us to find out more about each other and discuss aniridia related topics. James and Heather, two adults with aniridia and volunteers for Aniridia Network UK will be your hosts.
Keith wrote about last year’s event and said: “In one evening, I learnt so much. For the first time felt I have peers who understand my condition – in many cases a hell of a lot better than I do. For the first time I felt supported.”
We know many who couldn’t come last time so hope this time there will be even more people and better still.
Once again it’s fringe event of the Sight Village exhibition running nearby on 6 and 7 November. Sight Village is an excellent event about technology, equipment, and support for people who are blind or partially sighted. If you are going on the 7th and would like to meet someone there who is also affected by aniridia, tell us and we’ll try to put you in touch with other visitors.
We are currently picking a venue for this meet-up but expect it to be a bar which we will ensure it is as accessible as possible. It will start around 6pm and be close to both the exhibition and High Street Kensington Underground station. We can arrange guidance from the station and supply our phone numbers to make getting there as easy as we can.
If you want to come, email meetup@aniridia.org.uk as soon as possible so we know how large a space to reserve. We will then send you the details once arranged. Tell us if you would like to be met at the station.
If you can’t come, how about organising a meet-up of your own? There’s a real appetite around the country for get togethers – it just needs some people to set them up. Contact us for details of how we can help you make it happen near you.
The most decorated paralympian ever has aniridia. She and at least two athletes who have aniridia were at the London 2012 Paralympics. There might also have been a runner and a physiotherapist with aniridia too.
Trischa Zorn from the USA has won the most Paralympic medals in the history of the Games, a total of 55 medals including 41 golds. Her career spanned seven Paralympic Games from 1980 to 2004, across a range of events and categories.
Zorn burst onto the scene at Arnhem in 1980 at the age of just 16, winning five gold medals with world record performances. She set seven world records at Barcelona 1992 as she won 10 golds and 2 silvers. She was chosen to take the Athletes’ Oath at the Atlanta 1996 Games.
At the age of 40 Zorn came out of retirement to compete at the 2004 Athens Games, where she won a bronze in the 100m Backstroke S12 class.
At London 2012 she was among five summer athletes inducted in to the Paralympic Hall Of Fame. It aims to recognise retired athletes and coaches who have a track record of excellent athletic performance, history of fair play and participation in community activities.
Zorn has had iris implants in both eyes. The surgery was done as part of the US Food and Drug Administration’s study of the technique. It was performed by the President of the Cornea Research Foundation of America whose board she later joined. Though also now known as Trischa Zorn-Hudson her website is tirchazorn.com.
Mary Fisher is 19 and from New Zealand. At London 2012, her debut Games, she won four medals swimming in most severely visually impaired category. She won the gold and a secured a world record in the 200m Individual Medley. In addition she won silver in the 100m Backstroke and Freestyle events and bronze in the 50m Freestyle.
Amanda Dennis was in the USA Goalball team at London 2012. They reached the quarter finals before losing 5-0 to China . She comes from Peachtree City in Georgia. She also serves as an ambassador of the US Paralympics movement to promote sports to any and all disabled athletes.
Amanda has been awarded the Helen Copeland Scholarship by the United States Association of Blind Athletes (USABA). It is given to members who are: blind, a student, an athlete and US citizen.
USABA said “When she is not practicing goalball, Amanda is a great student and hopes to attend the University of Georgia to achieve a degree in political science with a concentration in pre-law; she also plans to go on to obtain a master’s degree in law. Amanda has been legally blind since birth due to a hereditary eye condition called Aniridia. Amanda is a great recipient for this scholarship and we cannot wait to see what she does in the future. We wish her all the best with goalball and academics!”
Justin Karn (aka “The Badger”) is 31 and hails from Canada. At the London 2012 Paralympics he took part in the under 60 kg category but was eliminated from the competition. He started competing when 13 years old .In 2011 he won a bronze medal at the Parapan American Games.
Gerrard Gosems from Australia was born in 1970. He competed at Atlanta 1996 in goalball and then in athletics at the Sydney 2000 and Beijing 2008 Paralympics. Although he ran a personal best at the 2011 IPC World Championships it seems he wasn’t in the final Australian London 2012 team.
Visually impaired runners often run with a sighted guide. Gerrard’s was once Sebastian Coe, recently Chair of the London 2012 Organising Committee.
He lives by the philosophy ‘success is a journey, not a destination’, but jokes he has hit many signposts while training”. He has climbed Mount Everest and fallen in to a crevasse because his sherpa forgot to warn him of it.
In 2009 Gerrard took part in the TV show ‘Dancing with the Stars’ and reached the semi-finals.
He got a guide dog at the age of 16 and went on to manage the Vision Australia organisation.
Fintan O’Donnell from Republic Of Ireland ran in the 800m at the Athens 1984 Paralympic Games. At several events since, including London 2012 he has been the physiotherapist for the Irish team. He also runs his own clinic in the west of Ireland. Until recently he was the Chair of Irish Blind Sports.
Nelson Goncalves from Portugal often ranks in the top 10 for F11/12 discus, javlin and shot put including at London 2012.
Yutaka Kumagai, Japan, 5000m/marathon has aniridia and won the T11 London Marathon 2016, but does not seem to have raced at the Paralympics.
These athletes tried for the USA squad in 2016 but did not go to Rio
These athletes are described as having iris colomboma, which may or may not technically be aniridia:
Congratulations to all these great people for their endeavours.
We tried, but for various reasons Aniridia Network UK was unable to contact or meet the athletes while in London.
People in their own countries might have more luck.
We are sure that they will inspire you about what is possible with aniridia.
Earlier this year I travelled to the USA to take part in medical research related to aniridia. It and the accompanying holiday was a very special experience.
The National Institutes of Health in the United States of America is made up of 27 institutes. Each has its own medical research agenda but all supporting scientific studies that turn discovery into health. It is based on a large campus in Bethesda, Maryland, just outside Washington DC.
One such study is into a genetic condition called WAGR/11p Deletion Syndrome. It can have many symptoms including aniridia. The study’s purpose is to learn more about how the genes involved can affect those who have the conditions and hence to identify potential treatments. To achieve this, the researchers need to examine 75 people with aniridia as well as people with WAGR/11 Deletion Syndrome. In particular one of the genes that can be affected in the latter condition has been linked to obesity. A genetic factor to obesity could have relevance for the wider human population.
Invitations to be involved with in the study had gone out to people with aniridia. Beth and Jenny from Aniridia Network UK took up the offer. I wanted to as well. I have always been keen to learn of and help advance medical understanding of aniridia to benefit me and others. I also saw it as a golden opportunity for me and my wife Zoe to holiday in the USA. NIH would pay for my travel within the USA, so I hatched a plan:
First I had to prove that I actually have aniridia, at a genetic level, not just the physical symptoms of no irises.
I started by writing to various health authorities to request copies of my medical records. This wasn’t easy because many of the places where I was a child patient have since or closed merged with others.
It turned out that the results of the genetic testing I had when 4 years old are not in my records. So through a roundabout process of participating in other research into CAPD and getting referred back to Moorfields Eye Hospital where I went as a child, I finally got a blood sample taken for a new genetic test.
The results said that I am “heterozygous for the mutation c.1080C>T in exon 9 of the PAX6 gene. This mutation changes codon 240 from arginine to a premature STOP codon (p.Arg240X).”
In the rare world of aniridia this is apparently one of its common causes. “Heterozygous” means that like everyone with aniridia I have a pair of PAX6 genes, one normal and one mutated – causing aniridia. The second part means that there is a mutation (spelling error) in the gene’s DNA for what should be an instruction to produce a protein necessary for eye development. Therefore the instructions are nonsense and the protein truncated and the eye doesn’t develop properly.
Meanwhile my parents and I were completing several detailed questionnaires about my and our family’s medical history. Even though Mum has a great memory and many notes this was quite a challenge.
Finally I sent all the papers off to NIH. I was delighted to be accepted into the study. For tourism purposes I declined to go in the depths of the US winter, opting instead for more temperate early April. Eventually the time off work was arranged, travel booked and places to stay organised.
I bought travel insurance independently. I was shocked at the extra premium charged purely because I am visually impaired. Unfortunately there was no way to tell the insurers I would be spending a third of the time away surrounded by the best medical equipment and doctors that money can buy! Thanks to some advice from others via the Aniridia Network UK Facebook page I got as good a deal as possible.
The last thing to do before going was to keep a diary of everything I ate for three days. This would later be analysed by a dietician during the study.
The transatlantic flight was a first for Zoe and me. Neither of us had been outside Europe before. We rented an apartment on East 9th Street – the East Village. Over seven days we had a fabulous time visiting:
The day after landing I got severe neck pain. I could barely move my head without hurting. Via my jujitsu sensei I contacted an excellent therapist. After his massage and acupuncture the problem was almost totally resolved.
I flew to Washington DC two days ahead of Zoe. I booked into The Edmond J. Safra Family Lodge. It’s a slightly odd place with serviced rooms, but self-catering in a communal kitchen, on the NIH campus for patients and relatives to stay for free.
The study took six days plus some overnight stays on the ward. I had engineered a weekend in the middle for tourism. In total I was in Washington DC for nine nights.
Everything was expertly organised by Amanda, the study coordinator. I met the lead researcher, lovely Dr Han a number of times too. The tests were fascinating, varied and a pleasure despite the impositions – admittedly sometimes uncomfortable or even painful. I was the 14th participant to have only aniridia.
A whole afternoon was dedicated to eye tests to assess: profile vision, acuity, tear production and many other factors. Lots of scanners and cameras were used. The technician had to keep holding my eyes open. They said I had “strong eyelids” but that was clearly code for “non-compliant”! Afterwards though they gave me the amazing imagery they had captured.
I had two stints inside an MRI scanner, once for my skull, the second for my lower abdomen. Again I have the complete set of incredible pictures for posterity. Another scanner provided me with an image of my complete skeleton. All these are unique mementos.
The hearing and auditory processing tests included repeating different words or numbers played into each ear simultaneously. Another involved describing sequences of high or long and low and short notes.
Sense of touch was checked with a thermode – a device held on the skin that can make itself hot or cold. I had to rate the pain induced from none to worst ever! The heat felt more intense to me. I also endured the maximum time permitted, 3 minutes, for holding my hand in very cold water.
To assess smell I was given a booklet full of scratch and sniff panels. For each one I had to identify the odour from a choice of four possibilities. This was quite fun, though as root beer doesn’t exist in the UK, some were a bit tricky!
The psychiatry assessment was stimulating. I had to explain the meanings of words, perform complex mental arithmetic and answer general knowledge questions. The questions relating to US history were a little unfair for an Englishman.
One night I had 25 electrodes glued to my head and more stuck all over my face, chest and legs. I had to sleep like this while a technician monitored me. I didn’t sleep very well but it was easier than I’d feared.
My birthday fell during the study. On that day I was:
On the plus side:
Ordering the hospital food took some mastering. The range of the menu and service was excellent. However the portions were small and they would only deliver precisely what you ordered. Otherwise you’d get cornflakes but no milk for example. I thought I would be safe by requesting a BLT sandwich. But what arrived was a clingfilm wrapped plate with stacked on it: two pieces of toast, lettuce leaves, bacon rashers and tomato slices – in that order. Also I had neglected to order butter for the bread!
Throughout my stay I was shadowed by a man with a video camera. I’d consented to be filmed for a piece on one of the NIH websites. It was interesting watching someone new doing a job my regular colleagues do. Ben was a consummate professional. I’m looking forward to seeing the results on screen.
I was given preliminary results of all the testing before leaving.
I’ll look into dealing with these issues in good time.
Everyone on the research team and the ward nurses came to say goodbye at the end. Some of them had been working on my tests behind the scenes so knew me better than I knew them or myself! They had all been so nice and accommodating; I was touched to see them all.
At the weekend and a couple of other times, Zoe and I had time to leave the NIH campus to go into Washington DC together. We mostly walked around seeing:
Zoe had more time to explore and also took a day trip to Baltimore to see the aquarium there.
We flew out of Washington DC and were met at the airport in Chicago by my cousin Jackie plus her adopted son Matt. It was a short drive to their house in Lake Forest north of the city. They and Jackie’s husband Rob made us very welcome for five days.
We spent some of the time visiting the sights of Chicago. The U-boat in the Science Museum was the highlight for me. But it was too windy for us to go up the tallest tower in America. I liked seeing the elevated train “El” too. The location plus the week in hospital gave me a craving to watch old episodes of ER.
Playing with three year-old Matt was lots of fun too. Zoe and I have a few more catchphrases as a result. It was the first time I’d met my second nephew.
All too soon it was time to fly home to London. It had been an amazing trip that gave lots of special memories. Three quite different cities, different places to stay and different reasons to be there. Matt apparently asked when we were coming back, every day for a week after we’d left.
The last thing to do was to use the kit that NIH had provided, to send them four small test tubes of final urine samples. This was to measure the progress through my system of some heavy water (with extra neutrons but not radioactive) they’d had me drink to measure energy expenditure. I had to fill out forms about importation of hazardous chemicals to the USA and arrange for a FedEx courier to collect the package. A rather strange process.
I feel very lucky to have had the opportunity to take part in the study. I hope it proves useful for the research. It provided the inspiration and means for a brilliant holiday with lots of great experiences. Thank you to everyone who I met and who was involved in some way.
Tora with her cane and mum Susan
A four year old child with sporadic aniridia has raised over £1,000 by walking two miles in aid of Aniridia Network UK (ANUK).
Tora, is blind in one eye and only has peripheral vision in the other. She was joined on the walk near Leeds by her mum Susan, sister, Riley (8), brother Zachariah (1) and 44 other family and friend. Together they raised over £2,00 to share between two charities. You can still sponsor them.
The sun was shining and everyone enjoyed the views, the countryside and playing on sheep sculptures found along the way. Tea and biscuits were kindly provided at the end by Cleckheaton Central
Methodist Church.
Tora was diagnosed with aniridia three days after her birth at Bradford Royal Infirmary. Her parents, Susan and Gordon from Cleckheaton, struggled to find any information about the condition at the hospital. “We were beside ourselves. We didn’t know what it was” said Susan. “Then I ended up speaking to Aniridia Network UK and they explained what it was, what to do and what to look out for – they were really helpful.”
Susan speaking at the ANUK Conference 2012
Since then the Susan and the family have become involved with the charity including being a guest speaker our annual conference in Manchester this year.
Their walk raised money to let ANUK produce a leaflet to put into every hospital for families in the same position as they once were.
It will also fund the Bradford Toy Library at St Luke’s Hospital. It loaned Tora fibre-optic lights to stimulate her eyesight. This local charity has also provided invaluable support to the family through coffee mornings and trips.
“These are the two charities that helped us the most and we would like to raise awareness about the work that they do” said Susan. “Parents can talk to other people who understand the situation they are in. They have been a massive support. ANUK really helped us because we were able to speak to adults who had the condition and share our experiences.”
Susan says Tora “is just like any other young girl. She absolutely loves music, anything from nursery rhymes to Lady Gaga! She is already learning Braille, because we don’t know what will happen in the future to her eyesight, and she is doing really well.” Tora uses a cane and starts school this year.
ANUK Chairperson Katie said “This was a great chance to continue the Paralympic 2012 spirit. We would like to thank Sue, Gordon and Tora for all their hard work raising money for us. We rely on people like them to raise the money we need to keep running each year.”
Please sponsor Tora generously or get sponsorship do something similar yourself – contact us for details.
The walk took place on Saturday 15 September along the Spen Valley Greenway.
I posted my letter and reported this plant to the council. Within a few days it was gone.
I’ve got an idea in my head to do something about plants that obstruct the pavement.
I’m fed up with ducking, flinching or actually getting scratched by the branches or leaves of things growing in people’s front gardens. That’s my feeling and I can often see the plants coming or else get yanked out the way by my wife! It must be a lot worse for people with less sight and by themselves.
I took a look online and suprised to find so little about the issue. There are a few council’s guidelines encouraging housefold to keep their greenery in check. Is it only me who this really annoys? I don’t believe it.
So what’s to be done? I’m thinking we need a template letter that we can carry copies of around with us. We can put one through the letterbox of houses that have plants which dangerously encroaching on the footpath. I’ve produced one myself but if it were endorsed by the likes of the Guide Dog’s Streets Ahead campaign so much the better.
Here’s my draft letter.
Dear resident
I am a person with a visual impairment. I was going past your home today.
Because I could not see it, I walked in to the plant that is growing from your garden into the footpath area. It was a sudden, frightening and disorientating experience. I (could have) recieved injuries to my face too.
I would be very grateful if you would cut your plant so that it does not pose a danger to me and the many other people who are blind and visually impaired. It would also make the footpath easier to walk along for everyone, especially people with buggies or in groups.
Yours faithfully
James
What do you reckon? How about a national campaign?
Please feel free to take the text and use it yourself. I guess the problem is are you brave enough to approach the house and post it?!
If you don’t fancy such direct action you can report footpath obstructions to the local council. Use the website Fixmystreet.com or the mobile app LoveCleanStreets.org to report problems easily.
Let me know how you get on in the comments below!
Because of aniridia, on sunny days or even overcast days when its ‘glarey’ I often wear sun glasses and/or a baseball hat to keep the brightness of the sky out of my eyes. But that is only half the problem! The pavement is also often too bright as it reflects light from above. I am still often screwing my eyes up and squinting just because of the bright grey floor. I have solution – I just need a tailor to make it a reality. I give you the ‘aniridia visor’
Appologies for my lack of drawing ability
You could describe it as a two baseball caps put together!
Such a garment would give me a slit so I could look straight ahead without being dazzled by the floor or the sky.
I would look like a duck though – that’s the downside! Maybe I’m just quackers?
What do you think?
Patrons: Tony Moore MA FRCS FRCOphth FMedSCi & Veronica van Heyningen CBE
Aniridia Network is registered as a charity number 1176792 in England and Wales
22 Cornish House, Adelaide Lane, Sheffield, S3 8BJ
Aniridia Network 