400km in 1 day fundraising bike ride

Posted on June 19, 2017 by

Matt wearing a Aniridia Network UK tshirtMatt rode his bike 408 miles from London to Worcestershire and back again, in one day to raise money for Aniridia Network UK.

He set out at sunrise and rode as the temperature soared to 40°C. He retuned 15 hours later to London at sunset having drunk 15 litres of water, and burned 10,000 calories!

The Justgiving page for the feat shows that Matt has raised over £4,400 including Gift Aid!

Mat said afterwards “Thanks for the very generous donations and kind messages of encouragement. I have to admit I’m pretty shattered – no amount of water cools you down on a day this hot. Job done, body has held up! For my side of the bargain:

  • Matt on a hill standing holding his bike over his headMaximum speed 71kph
  • 3500m climbed
  • 1 sense of humour failure
  • 1 fjord crossed
  • 0 punctures  “

Matt was motivated by the experiences of his friends and their 18 month old son Finlay who has aniridia. They learn more about this rare eye condition as Finlay grows and immensely value the expertise of Moorfields Eye Hospital, but particularly the guidance from Aniridia Network UK.

The money Matt has magnificently raised will help us ensure children parents and adults affected by our rare and complex eye condition are hopeful, confident, supported and well informed about aniridia. It will fund increases in the extent and quality of our events, services and literature. We also plan to set up a fund for medical research into treatments for the effects of aniridia. Together, with the help of people like Matt and those who sponsored him we can improve the understanding and hence the lives of people dealing with aniridia.

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Aniridia poem competition UK results

Posted on June 10, 2017 by

We are elated to announce the winner plus the awarding of a special prize in our Aniridia Day related poetry competition.

“I was impressed with the outstanding talent.” said judge and new trustee Emily. We were delighted to receive 10 poems, as hoped a range of types, with different sentiments and from patients, parents and friends of all ages.

The judging panel, trustees Katie, Emily and Martin picked Katherine’s poem as the best, because it referred to many aspects of our condition and the spirit of Aniridia Day. She has won £20 of Amazon vouchers and her poem will be submitted to the international poetry competition where it could win a further 25 Euros.

Katherine said “I’m so thrilled my poem was liked and won! This is the first time I’ve ever shared one of my poems before in public so I was nervous!”

In addition, 9 year old Ellie wrote a lovely acrostic poem that got more than 43 Likes on Facebook. To recognise this the judges decided to award her a special £10 Amazon voucher prize! Ellie is really pleased that everyone liked her poem. She is absolutely thrilled with this news and she is very proud of herself.

Thank you to everyone who wrote poems, for spreading awareness and understanding of aniridia. We hope you and everyone else will take part in ‘Shining Success‘ the next part of the Aniridia Day 2017 campaign.

All the poems entered into the UK competition are below starting with the winning two.

Congenital Aniridia

Katherine

Aniridia is congenital in my family tree.
My mother, my daughter , and yes even me!
The cause PAX6 a faulty gene.
A condition most doctors have never seen.
With eight different eye conditions I am registered blind.
Using a cane or guide dog, my mobility i’ve been able to find.
Nystagmus, ptosis, cataract and photophobia.
Keratitis, diseased corneas and myopia.
Diagnosed with and treated. All these conditions i have got.
Due to this i have to visit my eye specialist a lot!
Sometimes this rare condition can make you feel alone!
But now thanks to the aniridia community I know I’m not on my own!
So please on this first ever Aniridia Day!
Let’s celebrate our uniqueness in each and every way!

By Katherine

Follow your dreams

9 year old girl

Ellie

Aniridia does not mean you cannot follow your dreams!
No irises sometimes mean that things are much brighter!
If it’s a sunny day sunglasses and a hat help me play!
Running is tricky when you can’t see well, but my friends always guide me safely until we hear the school bell.
In the dark I use a cane, because bumping into things causes pain!
Discos are dark, so it’s hard to see, but I love dancing so everyone helps me!
In class I sit at the front so I don’t miss a thing!
And sometimes my eyes will sting, so I just put some eyedrops in!

By Ellie, age 9

The complete set of poems we received are:

Through my two eyes.

From birth to toddler, to many more years.
I wear glasses upon my ears.
Enlarged font to make it clear.
Front of the class to accomplish my work.
Those so grand for always giving a helping hand.
Sunglasses on when it’s sunny and bright to protect my eyes from the beautiful light.
Darkness falls and torches are lit.
Guiding me is the key to help me see and feel free.
So let life be and don’t judge me.

By Abigayle

Newborn

It was at your 20 week antenatal scan
They asked to do a more detailed one, if they can.
Shadows in your eyes they started to say.
But they couldn’t be definite or explain
All I knew was you were happy in my tummy
At least 4 times a day your hiccups would be
Due date came and went without much fuss.
You knew we wanted you to wait until after Christmas.
But A whole week your birth delayed
On arrival a bouncing 7lb 4oz you weighed.
So sleepy you barely noticed a thing
As they were poking and prodding .
No red reflex or pupil dilation.
See the eye doctor for more examination.
But my beautiful baby from head to toe
Already how I loved you so
Doesn’t matter to me
If you’re eyes aren’t like most
You’re still my precious boy to boast.
A week later we all went to see the doc
To hear aniridia was expected but cataracts was the shock
Off to Southampton eye unit to see the top man
Still a newborn but he said ‘I can”
At 9 and 10 weeks old you had the cataracts taken out
It was the right thing to do of that there was no doubt.
Yes there will be doctors and eye drop after drop
But just like others the fun in life will never stop
So when you are older and you are thinking why aniridia why me.
Just know that it’s part of you and we love all of you completely.

By Pearl

Rainbows aren’t everything

Iris, they tell me, is the old word for a rainbow.
So we are denied our rainbows. So what?
We can still have them in our imagination.
As for the real world, we can smell a flower,
Sense the presence of a friend
And share a walk with a loving dog like Ava.
We can feel the sunshine warm on our skin,
Taste a dish of food thoughtfully prepared
And listen to music.
After all, rainbows aren’t everything, are they?

By Lynda

 

Doctor Doctor

Doctor doctor in the recovery room.
Shining your torch so soon.
Into my eyes one then the other.
Then he starts to mutter.
But i’m not brain dead.
I’ve just got aniridia instead.

Aniridia, a parents tale.

Proud parents full of excitement and joy
Love abounds for our new baby boy.
Then the world stands still and darkness falls
We held our breath as aniridia calls.
But life carries on and our son’s a delight
He’s strong and brave despite his sight.
He fills our life with love and joy
And love abounds for our grown up boy.

By Lyn

The Shades

The Shades close
Iris is absent each day,
Her absence raises my pressure.
Turn down the light Iris,
Still the pupil refuses.
When Iris is present
The pressure’s controlled.
Iris sort out the light –
It’s so dim in here.
The pupil tries to work-
Hindering movements.
The light will not stop flickering.
Iris steady the light.
Darkness abounds, Iris is gone.
I ask the pupil
What colour is the rainbow?
Iris answers without colour.
Rapid motions of the globe.
I must close the blind
To lower the pressure,
Alas there is darkness
For Iris is gone.
I hear gushing water,
Is there a cataract Iris?
What is blocking the view Iris?
Rapid flickering.
My hearing can’t interpret the sounds.
Pressure rises,
Iris is gone.
Both pupils sigh!
The shades close thrusting
The world into darkness.

By Eleanor

A Special Moment

Across the wide road I could hear the sea
So to the traffic lights for me
While waiting my turn I could see, yes see
A tiny green bike on my right
Yes on the traffic light was a little green bike
It was at just the right heigh to come into my sight
Well it made my day to see that little green bike on the traffic light.

By Gill

Begone Aniridia

Awareness of aniridia we had not
Now networking happy days more we have
Investment sadly we have not
Research and development urgently we crave
In these troubled times of monies not
Dedication of medics volunteers and sufferers so brave
In your hearts and pockets please monies got
Advancing with hope and enthusiasm we rave

And forward we hop
Network ideas, lots to achieve
Inward outward everywhere we bop
Raising funds urgently – talk on the airwave
Into schools colleges and clubs we trot
Deep pockets 2, coffee mornin’s a fav
In flows the monies for R & D to prop
Aniridia – begone – loudly we dream to believe

By Marion

Through my two eyes

From birth to toddler, to many more years.
I wear glasses upon my ears.
Enlarged font to make it clear.
Front of the class to accomplish my work.
Those so grand for always giving a helping hand.
Sunglasses on when it’s sunny and bright to protect my eyes from the beautiful light.
Darkness falls and torches are lit.
Guiding me is the key to help me see and feel free.
So let life be and don’t judge me.

By Abigayle

Posted in Campaigns, Parents' accounts, Patients' tales | Tagged , | 3 Comments

Golden wedding celebration fundraises £95

Posted on May 21, 2017 by

Two tiered cake with white icing, gold trim and 50 decorationBeing married for 50 years is an achievement. This is the milestone that my parents achieved in March this year.

My father has aniridia (as to the best of our knowledge did his father), as did his brother. When my parents were married very little was understood about the condition, at least at the level of the out-patient’s department in a hospital. It was generally treated in the same bracket as general low vision or short sightedness. Genetic counselling was certainly a long way off.

In the same way as others with a disability, my parents got on with setting up home and bought up two children (both with aniridia), they have faced the same challenges as many people and come through them – including full time employment and running their own business.

To celebrate all they have achieved, my parents decided to throw a party at a local hotel for their 50th wedding anniversary. After all that time, they pretty much have everything that they need. So they decided that as many of their guests would have to travel to attend the party, they would ask for donations to ANUK rather than people feeling they ought to think about a gift. When they sent out the invitation, they included details of how donations could be made and an information leaflet on the work that ANUK does.

Adults and children looking at a bird of prey perched on its handlers armThe day of the party dawned bright and dry. A good number of people arrived for the party. Apart from lunch (including a cake that my sister had made and decorated) there was also the entertainment of a birds of prey display in the hotel’s garden, which was quite exciting when they were flying close to us. You could even have a go at holding the birds yourself.

Group of seated adults talkingThe donations made by the guests to the party totalled £95, which my parents were pleased with, as they know how even the basic running costs of putting on an event can add up, whether this is the cost of room hire, stationary and equipment or catering.

My parents enjoyed their party and were glad to help raise money for ANUK.

By Sarah

Aniridia Network UK thank Sarah’s parents for their magnanimous gift. We wish them much more happiness in future.

 

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Win up to £40 in the aniridia poetry competition

Posted on May 12, 2017 by

Write a poem about your experience of aniridia, then send it to us and you could win shopping vouchers worth £40!

Join us in taking part in the international poetry competition to celebrate the first world Aniridia Day on 21 June. The goal is to spread understanding of what it is like dealing with aniridia.

Anyone can write a poem, including: patients, parents, siblings or other relatives, friends, doctors, teachers and other professionals. The poem can be about any aspect of aniridia.

The poem can be any type such as haiku or rhyming couplets. For inspiration you could start with an acrostic where the start of each line begins with the letters of ‘aniridia’.

Prize

The author of the poem judged to be the best in the UK and Ireland will win £20 of shopping vouchers.

We will pass this poem on to the international judges. The poem they decide is the best in the world will receive about £20 (€25) of shopping vouchers – kindly provided by Aniridia Europe.

So you could win twice and get £40!

How to enter

The poem can be submitted in any format including: electronic text, photograph of a piece of paper, audio or video recording. Include your name, address and ideally a picture of the author too.

Submit your poem to the UK & Ireland competition by emailing poems@aniridia.org.uk by the end of Sunday 28 May 2017 but the sooner the better. We will announce the winner in the first week of June.

Unless you ask us not to, we will put your poem on our Facebook/Twitter/blog to share your experience and encourage other people to write poems of their own. Please re-share all these with your contacts. We can publish the poem anonymously if you wish.

The UK & Ireland judges will be three of the Aniridia Network UK Trustees: Katie, Emily and Martin.

The international winner and their poem will be announced on the Aniridia Day Facebook group and Twitter on 21 June 2017. Please join/follow these now.

So get your creative juices flowin’ and start writing your poem!

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Launch of Aniridia Day: 21 June 2017

Posted on May 3, 2017 by

Aniridia Day logoJoin us celebrating the first ever international Aniridia Day on 21st June 2017!

What is it?

It will be a exciting time to coordinate activities and improve understanding of the rare genetic eye condition aniridia.  Please take part in the campaigns:

  • During May: write a poem about aniridia for both the UK (£20 prize) and international (€25 prize) poetry competition
  • In June: plan how you will show you are a shining success on Aniridia Day

Aniridia Day is a great chance for all of us around the world to:

  • hold events for people associated with aniridia to meet
  • increase awareness of aniridia,
  • raise funds
  • recruit volunteers

When is it?

Aniridia Day is the same date as the solstice – a property of how high the sun is in the sky. We chose this because of how the brightness and position of the sun plays significantly affects the lives of people with aniridia.

Aniridia Day and the solstice are on 21 June in 2017, 2018 and 2019.

Who can take part?

Everyone! We want Aniridia Day to be a truly international event with people in all countries taking part and using it as the basis for activities – especially in the UK.

Whether you have aniridia, know someone with aniridia or neither, if your work involves aniridia, please get involved with activities, spreading the word or donating time or money to our causes.

Organising

The success of the IrisSelfie campaign by Aniridia Network UK and Aniridia Foundation International inspired Aniridia Day. Trustees, James and Katie have led the creation and running of the committee to organise the campaign with the great support of Aniridia Europe.

James said “We really want people from around the world to join the Aniridia Day Committee, to help with this year’s campaign, and the organising the day in future years.”

Find out more Aniridia Day.

 

If you have any questions or would like to contact us about participating in the day, you can email the team at contact@aniridiaday.org

We look forward to celebrating Aniridia Day with you.

Get writing your poem now!

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Insights from UK Genetic Disorders Leadership Symposium 2017

Posted on March 26, 2017 by

Big screen showing: UK Genetic Disorders Leadship Symposium, Proudly Sponsor by Alexion, Healthcare at Home, Akcea, Global Genes, Alnylam, Biomarin, Sanofi GenzymeAdvice for creating a definitive source of information about a syndrome and the opportunity to be involved in Jeans For Genes Day were just some of the results of the latest event we attended. Aniridia Network (ANUK) Trustee James was among 100 delegates at the Genetic Disorders Leadership Symposium earlier this month. Our chair Katie has previously been to the annual, free, day-long event by Genetic Disorders UK.

Presentations by staff at Ataxia UK and Max Appeal described how they had brought together many types of experts and patients over several months to create ‘consensus documents’ on how to deal with their conditions. These include grades for each piece of guidance on the evidence-based confidence there is in it. Max Appeal has also attained the NHS Information Standard of quality and used company Guidelines to distribute a summary version for GPs.

The leader of XLP Research Trust spoke about how he has created a worldwide community and research hub in 14 languages about the ultra-rare condition. Key to this was a bi-annual symposium and speakers dinner. At least 14 months notice plus a time and place that aligns with similar events is needed to secure a slot in expert doctors diaries.

Another speaker described how their week long events include clinics as well as meetings for scientists and patients.  It was often said how vital it is to get a great medical champion as well spot and nurture aspiring researchers

Two men wearing conference badges

Daniel Lewi, Nystagmus Network executive and James Buller, ANUK trustee

James said “I really want to create a free online, knowledge base about aniridia through international collaboration. So I was very interested in these sessions. I took the opportunity to discuss the details with the speakers in person afterwards, to learn from their experience and be able to contact them for advice in the future.

Towards the end of the day the Chief Executive of Genetic Disorders UK announced two initiatives that could aid ANUK. September is to become Genetic Disorder Awareness Month. The highlight will be the existing Jeans For Genes Day, which will change to enable charities like ours to share half the donations revenue if we help find new fundraisers to run events.

There were lots of other engaging and useful presentations from the stage: “It was fantastic to meet comrades from similar organisation to compare notes on our approaches and ideas on common issues” said James. “I was most struck by how much had been achieved by organisations concerned with conditions rarer than aniridia and therefore smaller pools of volunteers and donors. I hope my colleagues and ANUK all members, will like me, learn from and be inspired by them.”

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Milkshakes fund rare disease charities

Posted on February 27, 2017 by

 

a pink milkshake in a jam jar style glass, with a straw and muffin sticking out the top and topped with cream and light blue and red sprinkles

The Rare Disease Day milkshake

A business has found an alternative way of raising money for our charity to shaking collection tins – shaking milk!

The Pour House in Shrewsbury opened in 2015 as a coffee house by day and cocktail bar by night.

Between 25-28 February 2017 they served a special milkshake to celebrate Rare Disease Day on the 28th. For every one sold, a generous £1 was donated to Aniridia Network UK. It was a lemon milkshake topped with whipped cream, a gluten free blueberry muffin, blueberries, raspberry millions and blueberry sauce. The blue, pink and white match the day’s colour theme. It looks awesome.

For the previous 3 months 50p from the sale of each of their most popular ‘really scrummy’ milkshakes ‘Oreo Overload’  has been donated to International WAGR Syndrome Association. So far this has brought in more than £250.

Baby sitting on a cafe table next to a chocolate milkshake with lots of cream on topOwner Paul has a daughter with WAGR. He said “predominantly this money will be donated to the IWSA as this is obviously most relevant to us but we felt that other charities that we come into contact with should also be included such as ANUK and local charity OneVision.”

“The idea came from our Manager Katie who has been raising funds the same way from day one but through a cocktail instead for the charity Village Water, it was then Nicola’s idea to duplicate this on a milkshake.”

Fifty blueberry shakes were sold.  Paul has added £100 from the Oreo shake sales to make a total donation of £150 for ANUK.

We are so grateful for the wonderful inventiveness and generosity of the staff and customers at The Pour House.  Stop by for a drink if you can!

 

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First aniridia meeting in Ireland

Posted on January 29, 2017 by

Delegates sitting talking around a circular tableFollowing through on her pledge to start an aniridia group in Ireland, Eleanor has organised its first meeting.

She has brilliantly secured the support and a room at the National Council for the Blind Ireland.

Saturday 8 April 2017 start 11.15 am – 4.00pm
NCBI, Whitworth Road, Drumcondra, Dublin 9
In Association with Aniridia Network UK

If you want to attend this launch meeting contact meetup@aniridia.org.uk to tell us how many people you will be bringing with you, so that we can have an idea of numbers when arranging the room and refreshments. Children are of course most welcome

If you know anyone else with aniridia in the Republic of Ireland or Northern Ireland, please do pass on this invitation to them.

Agenda

11.15 Registration and welcome

11.30am – Martin Flemming – Aniridia Network UK Trustee

MartinMartin will speak on the following topics:

  • Aims, vision and support of Aniridia Network UK (ANUK).
  • Why establish ANUK in Ireland.
  • How you can get involved either with ANUK generally or with helping to establish and shape the Irish group, and possibilities for the future.
  • His personal experiences of Aniridia, his life in the West of Ireland with his family and how and why he got involved in Aniridia Network UK.

11.45am – Rosa Sanchez de Vega – President of Aniridia Europe (Skype)

RosaRosa has dedicated many years in bringing together patients, doctors and researchers, advocating for a legal framework for rare diseases. She has held various leadership roles in Spain and across Europe. In her vision aniridia requires a European approach: the development of a European patients´ registry and a European protocol to encourage research and improve patient´ care. Rosa will talk about how Aniridia Europe can help you.

12.00 – Avril Daly

Avril is the CEO of Retina International the global patient-led  umbrella group dedicated to the promotion of research into Rare and Inherited as well as Age-related forms of retinal degenerative conditions.

Previously CEO at Fighting Blindness Ireland for eight years.

Avril is the Vice President of EURORDIS (Rare Disease Europe) sand chairperson of the Irish National Alliance for Rare Diseases.

In 2011 Avril was appointed by the minister for health to the steering committee working towards the publication of the Irish National Plan for Rare Diseases, (2014) and now sits on its oversight committee and represents the patient voice on the working group of the Clinical Programme for Rare Diseases at the Irish Health Service Executive (HSE).

Avril was previously co-chair of the National Vision Coalition in Ireland.

Avril was a founding board member of the Medical Research Charities Group (MRCG) and the Irish Platform for Patients’ Organisations, Science and Industry (IPPOSI). Avril studied communications, journalism and business and previously worked in media relation. Avril lives with the rare retinal condition Retinitis Pigmentosa.

12.30pm John Delaney – Psychologist and Counsellor Fighting Blindness

John trained as an integrative and humanistic psychotherapist and is a graduate of Dublin City University and the Irish Institute of Counselling and Psychotherapy Studies.  John will speak about counselling services available to individuals, children and families in relation to vision loss.

12.45pm Sinead Kane BCL, LLM

Sinead wearing a black gown and holding a sroll

Sinead receiving her qualification

Sinead will share her personal experiences of living with Aniridia  and how this condition did not hold her back in terms of her professional qualifications in the legal profession and her love of sport.

Sinead will speak about her experience: running 7 marathons on 7 continents in 7 days!!!

1 pm – Lunch.

2pm   Professor Barbara Kasmann-Kellner – Chair of Aniridia Europe’s Scientific Committee (Skype)

Barbara reported at the 3rd European Conference on Aniridia in 2016: “in my opinion work is easiest if it is not approached with illusory expectations. As a member of Aniridia Europe and as the medical adviser for Aniridie-WAGR Germany I see many patients with Aniridia and I have come to realise that Aniridia (the lack of the iris) is not the major problem, but that the problem in PAX6 related Aniridia (or PAX6 syndrome) lie in the complications possibly leading to blindness”.

2.45pm – Caitriona Dunne – Advocacy Manager, Fighting Blindness Participation in clinical trials

Caitriona manages the organisation’s advocacy work which involves representing the views of people affected by vision loss and raising awareness about vision loss.

3.00 Fintan O’Donell MISCP MscSEP Dip SHWW –

Fintan standing beside a poster on which the main word is determinationFormer Chair of Vision Sports Ireland He worked within Elite Sports as lead physiotherapist with the Irish Paralympic Team between 2002 – 2013, attending three Paralympic games at Athens, Beijing and London. Qualified physiotherapist with his own Physiotherapy Clinic in Ennis. Finton also has aniridia.

3.30pm – Feedback

4.00pm Farewell

Introduction to Eleanor Burke Aniridia Ireland launch organiser.

Eleanor M Burke MCSP, Retired Physiotherapist, BSC. Rem. Prof. BA. LLB Hons (Open)

In the background giant posters for IPPOS, Rare Disease Day, STRONGER TOGETHER, Medical Research Charities Group - Unity is our strength

Eleanor and her Labradoodle guide dog Ava at Rare Disease Day 2017 Dublin conference

Eleanor has sporadic aniridia.  She attended St Mary’s School for the Blind, Merrion, Dublin, from the age of 10 years (1962) to 1971 when she left school with the Leaving Certificate.  Eleanor was a trail blazer as she was the first girl to leave St Mary’s having achieved the Leaving Certificate which qualified her to train as a Physiotherapist in London at the Royal National Institute of the Blind (RNIB), School of Physiotherapy.  

Eleanor then took up employment in 1976 at University College Hospital, London where she held positions as Junior, Senior and Superintendent Physiotherapist.  She had a particular interest in the treatment of adults and children suffering from neurological conditions and obtained a Post Graduate Certificate in the Bobath method of treating children with Cerebral Palsey.  Educational achievement was key for Eleanor who went on to graduate with a BSc for the Remedial Professions in 1988.  She then embarked on various Open University courses, gaining a BA in Social Science and law degree (LLB Hons.Open).  She is currently working towards her Masters in Laws (LLM) with the Open University.  Having attended the Aniridia Network UK (ANUK) annual conference which took place in London in 2016, Eleanor took up the challenge of setting up the Ireland Aniridia Network UK.

Links to sources of help

 

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London meet-up 2016

Posted on November 1, 2016 by

Two women and two men talking while sat around a table in a coffee shopWe had a lovely informal get together in Caffe Nero, 1 Wrights Lane, Kensington, London, W8 5RY today.

Six people with aniridia came along for coffee and chat about their condition.

We met right after the excellent Sight Village event over the road. So some took the opportunity to go there during the day.

Others came later, after work.

It was also be an early celebration of Nystagmus Network Wobbly Wednesday – since 85% of people with aniridia have nystagmus too.

We had a really nice evening. As Glen said best, we all “had a very interesting day looking around Sight Village.and enjoyed meeting others from Aniridia Network UK. Well worth the trip.”

The host was one of ANUK’s trustees, James who has aniridia himself.

If you want to organise a meet-up near you email meetup@aniridia.org.uk.

 

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