Insights from UK Genetic Disorders Leadership Symposium 2017

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

 

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

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

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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Kids complete Mini Great North Run in aid of aniridia

THree boys and a girl of mixed ages under 8 wearing medals over pink tshirts and shorts on a Newcastle streetFour children, one with aniridia took part in this years Mini Great North Run to raise funds for us.

Their generous sponsors gave £525 via JustGiving plus a £100 cheque, for them completing the 1.5 kilometre challenge which is open to 3 to 8 year olds.

Mums Emma and Kelly said “Well done kids!!! They did amazing and are very proud of themselves! Thank you to all who have donated.”

Aniridia Network UK is very grateful for all their efforts. They will enable us to give support to lots more children with aniridia and their parents.

If these guys can do it, so can you! Contact fundraising@aniridia.org.uk to discuss how we can support you with raising money so our charity can continue its work.

Another piece of good news is that JustGiving are abolishing their £18 monthly fee for small charities. Hopefully we will qualify so that aside from the proportional administration fees, a lot more of any donations made through JustGiving would reach us. It is worth noting though that the other fundraising websites we use, already deduct even less from donations than JustGiving do/will.

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2016 Paralympians with aniridia

Athletes with aniridia competed at the Rio 2016 Paralympic Games.

Do you know any others with aniridia who took part?

For more inspiring stories read our previous article about people with aniridia at the London 2012 and previous Paralympic Games

 

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Thanks to the person in front

The legs three people crossing a road, the middle one is a woman woman wearing bright blue trousersDear random pedestrian,

You never knew it but you really helped a disabled person today.
You came to be walking in front of me, in a environment that I found tricky to navigate alone with my visual impairment. Thank you!

In a bustling street or on a path facing a glaring sun or at a dark restaurant – where I couldn’t see the destination, correct route or hazards – you were a beacon. I could mimic your movements to avoid people and objects. You led me to my destination by simple virtue of it being yours too.

Your distinctive clothing played a part in why I selected you, as was your air of confidence and similar walking speed to my own. But mostly it was chance that meant I caught a glimpse of you, someone hopefully going my way.

Residual sight and any mobility aids are very useful for getting around by myself. But I often need a steer towards the right way, to be safe or allay my feeling of confusion, embarrassment or even fear. This may be for several minutes or matter of seconds. Crossing a road is a common example. It’s often in unfamiliar settings, such as finding the toilets in venue. It’s also when there are unknowns during my regular journey. For example which ticket gates to use today at the station or unexpected changes like road work diversions.

You and all the other people, that visually impaired people like me use for guidance every day can’t be thanked individually. So I want to say a collective thank you strangers, for being there. You made life easier. I hope you had a good day too.

James

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Travel insurance for people with aniridia

Italian flat farm land with a large hill in the background

Photo by Philip Brown http://flic.kr/p/beNmRr

We are often asked:
”Do I need to declare aniridia when applying for travel insurance?”
This is often accompanied by outcry at an exorbitant quote when doing so. Regular travel insurance companies often charge a hefty premium to cover medical conditions.

Well the risk is that if there was any kind of accident especially one that impacts upon the person’s sight or where it might have been a factor, and the insurance company was not informed of it, they may use it as a reason not to pay out. It is of course unlikely but on that basis we’d not take out insurance at all for foreign expensive healthcare and medical transport.

So what are your options?

First consider whether you want to be covered for pre-existing medical conditions or not. Some insurers will have an option to not be covered, in exchange for a cheaper premium.

If the application form does not require you to list all the pre-existing conditions and you don’t want to be covered for then this is simple.

OJessica climbingf course this means you carry the risk of any problems with whilst on holiday. Consider riskiness of your planned activities where you’ll be.

For example If your only medication is eye drops available in chemists, you may feel you could easily replace your own supply if necessary. But you wouldn’t be covered for at least related eye treatment or repatriation. A need for specialist eye drops however could make insurance worthwhile.

If the application form does ask for all pre-existing medical conditions, then even if you don’t want cover for them, you should include aniridia to avoid the risk of invalidating the whole policy. Check the its wording.

When filling in travel insurance applications online there is usually a pre-defined list of medical conditions to choose from. Aniridia will usually not be one of them. Instead there will probably be an space to type in the name of your conditions.

If the insurance company does not already have information on aniridia they may simply refuse to cover you.
Other companies may do some research, including phoning you, before deciding whether and what price to quote.

There are insurers that specialise in covering people with medical conditions. These usually have lower rates than others. Some examples are below. Find more by searching online for ‘travel insurance for existing medical conditions

Consider that “aniridia” in some ways only refers to the absence of the iris. The symptoms and complications people with aniridia face are unique to them but are actually medical conditions in themselves.
Insurers may be unfamiliar with aniridia but may know about cataracts, glaucoma, dry eye, cornea scaring, nystagmus, etc. You may also be able to select ‘visualy impaired’, ‘partially sighted’ or ‘short sighted’ from the available options as a catch all.
So you may feel you can encompass everything without mentioning aniridia.
Again we can’t be sure this would be sufficient if a claim were made.

Some people will take the risk and just do that online or by phone. If you want to go further:

  • Speak to insurance companies for guidance and check the wording of their policies carefully.
  • If in doubt declare aniridia as a pre-existing condition,
  • Shop around, try the specialist providers.
  • Phone the insurer instead of doing an online application so you can explain your condition and holiday plans, and argue for a lower quote.
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Glen’s story of aniridia and nystagmus

Glen has made marvellous videos about how his visual impairment due to aniridia and nystagmus affects him.

He’s also produced a written versions entitled ‘Life With Aniridia‘ and ‘Life With Nystagmus‘.

These are just two of many fantastic posts about disability on Glen’s blog. Thanks to him for communicating it all so well.

Check it all out and subscribe for more in future.

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