Phil’s triathlon raises over £500 for ANUK

Posted on Jul 13, 2013 by Aniridia Network
Photo of two young children

Phil’s daughter Evie who has aniridia, with her brother

A massive thank you and well done to Phil who has raised £560 for Aniridia Network UK by running a triathalon. The race at Ripon racecourse in Yorkshire was his first ever attempt at the swimming, cycling, running challenge. Here’s a video of Phil crossing the line wearing his ANUK t-shirt in 3 hours and 38 minutes.

ANUK Fundraising Officer Liz said afterwards “We are very grateful to Phil, his sponsors and all the donors for helping us continue our work of supporting people with aniridia and their families. It will help towards funding our buddy scheme and in printing information leaflets for new parents like Phil.”

Keep going

What could you get sponsored for ANUK to do? If a collection, cake sale or car wash is more you thing then we would appreciate that too. Our fundraising target for this financial year 2013/14 is £3500 which we need to just keep going. Find out how to get involved.

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Solar sneezing – effect of light on the nose and brain

Posted on Jun 30, 2013 by James

I have aniridia and I noticed that when exposed to brightness, particularly sunlight I sneeze within a minute.

While taking part in the National Institutes for Health research I took the opportunity to ask Dr Han why this might be.

She sent me details of the solar or photic sneeze reflex. It turns out  about a quarter of people experience a prickling sensation or sneezing when exposed to bright light. Someone has even managed to concoct an acronym to label it ‘ACHOO’ syndrome!

A number of medical papers have been published on the subject. One describes an experiment where an EEG machine measured the brain activity of test subjects, while they looked at a bright flashing light. The ‘photic sneezers’ were seen to have ‘a generally enhanced excitability of the visual cortex, In addition a stronger pricking sensation in the noses of photic sneezers was found to be associated with activation in the insula and stronger activation in the secondary somatosensory cortex’.

It seems there is some neurological link between the eyes and nose, perhaps with a genetic aspect, but the exact cause and reason of reflex is still unclear.

It is more than just a curiosity though. One piece of research considers the risks for combat pilots whose enemies favour attacking ‘out of the sun’ and so this part of the sky must be watched.

A sneezing reflex has also been observed in some eye surgery patients when being given an anaesthetic injections into the eye – scary!

I speculated to Dr Han that the inability of a person with aniridia to block out bright light could make them more likely to experience the reflex if they have it. I suggested that this could be subject of another research study!

But anecdotally do you (or your child) with aniridia get a prickly nose or sneeze when it is too bright?

Give your thoughts in the comments below.

Posted in Medical staff talking, Patients' tales, Research | Tagged | 1 Comment

Juggling with aniridia

Posted on Jun 25, 2013 by Aniridia Network

Harry, who has aniridia, has learned to juggle. We recorded the two videos below, one year apart, of him showing off his skills. He’s pretty good.

Harry’s acuity is 6/36 which is near the top of the range reported by people with aniridia. So this video shows what people with aniridia can be capable of.

What other things can you (or your child) do which people might not expect of someone with a visual impairment? Post in the comments below or write a blog post to tell your story.

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Knighthood for member of our medical panel

Posted on Jun 18, 2013 by Aniridia Network

Professor Peng KhawProfessor Peng Tee Khaw, a who sits on the Aniridia Network UK medical panel, was awarded a knighthood in the Queen’s 2013 Birthday Honours. The consultant ophthalmic surgeon received the honour  for services to ophthalmology.

At the Aniridia Network UK (ANUK) Conference 2013 we announced that ten top experts in the UK have agreed to help us understand the: causes, symptoms, assessment, prognosis and treatment of aniridia. Professor Khaw is among them. Members can ask them questions via our enquiries service (enquiries@aniriida.org.uk).

Among his other roles, Professor Khaw is currently Director of the Biomedical Research Centre (BMRC) funded by National Institute for Health Research (NIHR) at Moorfields Eye Hospital/University College London Institute of Ophthalmology. He is professor of ocular healing and glaucoma and has a long track record of developing new treatments from laboratory through to international clinical trials.

Colleague and ANUK patron Veronica van Heyningen tweeted that she was “delighted to hear of the knighthood for the expert on glaucoma & new treatments”.

Congratulations also came from our officials and members. Jenny said, “I know for definite that he is solely responsible for the fact that I still have some remaining useful vision – he has done numerous surgeries on both my eyes since I was 12. So happy all his hard work and dedication has been recognised!”

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Patients needed for research into if nystagmus slows down sight

Posted on Jun 17, 2013 by Aniridia Network

A growing body of evidence suggests that people with nystagmus need more time to see the world around them than those with ordinary vision. However, existing sight tests for distance vision take no account of response times and are a poor measure of the impact of nystagmus on functional vision.

The charity Nystagmus Network are funding a £15,000 project to investigate the slow to see phenomenon in nystagmus.

Professor Harris is looking for volunteers to take part in this project. It simply involves visiting the University of Plymouth and looking at a screen and saying which way a letter C is pointing. Anyone with early onset nystagmus interested in taking part in this research should contact info@nystagmusnet.org

Nystagmus Network chairman Richard Wilson said: “Slow response times are one of those little understood quirks of nystagmus, but they have such a big impact on our daily lives. We hope this research will help clinicians to measure the slow to see phenomenon more effectively and increase our knowledge of what’s going on in the vision of people with nystagmus.”

In a survey by Aniridia Foundation International of 83 people with aniridia, over 80% of people also had nystagmus.

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Conference 2013 – a parent’s review: ‘Good Vibrations’

Posted on May 26, 2013 by Aniridia Network

By Susan, the parent of a 4-year-old daughter with aniridia and WAGR/11p Deletion Syndrome.

I am so glad I went to this year’s Aniridia Network UK (ANUK) annual conference. I had almost decided to give it a miss but it turned out to be unmissable! A truly positive experience which gave me hope; a real feel good experience!

There were so many highlights for me. I was thrilled to hear the keynote speech from our new Patron Veronica van Heyningen CBE, even if she did get a little bit too technical at the end for me!

Photo of Veronica

Patron Veronica

I think it is wonderful that Veronica has come on board; with her in-depth knowledge and her notoriety she can only bring great things to advance ANUK. In fact, I was really excited to hear that she has already started to appoint a panel of experts to assist the charity. I am looking forward to her confirming who will be the specialist in WAGR/11p Deletion Syndrome.

As my 4-year-old daughter has communication problems, it is difficult for me to know how her aniridia affects her in daily life. The conference was yet again a great opportunity for me to meet other people with aniridia to learn about how the condition affects them. It was also a valuable opportunity to meet some other lovely WAGR families; there are so few of us that I am glad that we are able to ‘piggyback’ the event each year!

Adults, baby and dog sitting around a table

Susan, Caryl, Mari, Trystan, Jenny and guide dog Jayne

My lasting impression from the conference is the positive vibe that surrounded the day. ANUK has evolved a great deal, even in the short time that I have been a member. I believe this has been driven by the obvious passion and vision of the trustees for the organisation. I found this inspiring and hope to organise a social meet-up in the Midlands during the year.

At the conference, we saw first-hand that people with aniridia can have a fulfilling life, career, relationships etc and that new and exciting treatments are already being researched and trialled to establish a long-term solution to the corneal damage caused by aniridia.

Woman standing at lectern beside large screen

Medical Adviser Melanie presenting

When listening to the presentation by Melanie Hingorani, ANUK’s newly appointed Medical Advisor about therapy and surgery, it struck me how many of the aniridia related complications my young daughter already has; ones that generally do not appear in childhood. Instead of feeling scared, I feel the conference brought me hope and whatever happens, through ANUK I am developing a network of friends and contacts who will be there to advise and support us.

What did you think of Conference 2013? Tell us in the comments below or send us an article of your own to publish.

More photos from the day

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Jenny and other blind people are let down by bus companies

Posted on May 21, 2013 by Jenny

ITV West Country News interviewed our member with aniridia – Jenny – who says she frequently misses her stop because there are no automated stop announcements on buses. The charity Guide Dogs for the Blind is calling for audible announcements to be made compulsory on all services.

 

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Recruitment for the Optimum VI project: Early development and support of babies and young children with a visual impairment

Posted on May 20, 2013 by Aniridia Network

This important national study is being led by Great Ormond Street Hospital Developmental Vision team (Dr. Naomi Dale and Dr. Alison Salt). This is the first national study to investigate early development and support in babies and young children with visual impairment.

The aim of this research study is to learn more about the early development of babies and young children with visual impairment and also how early intervention and care might influence this early development. We hope that the results of the study will allow us to provide new insights and understanding into early childhood development and visual impairment and which methods best facilitate early developmental progress.

This is a one year longitudinal study with a two year follow up. We will be meeting the child and family on three occasions (at the start, one year later and two years later).

This is a national study and we need to recruit at least one hundred babies in the first year. We hope to recruit as many interested families as possible.

It will be recruiting infants with profound visual impairment aged from 0 to 15 months (excluding children with additional severe motor or hearing impairments). We are happy to hear of families from anywhere round the United Kingdom and can provide home visits if the family lives at distance from us.

For an information sheet for parents, an expression of interest form and a flyer that will provide more information visit the study web page.

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Protected: Woman with aniridia is first to get new corneal stem cell transplant in UK

Posted on May 18, 2013 by Aniridia Network

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Protected: Life with aniridia by Ben and Lois

Posted on May 18, 2013 by Aniridia Network

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