Fact check on Daily Mail piece about teenager with WAGR/11p deletion syndrome

Posted on Nov 24, 2011 by Aniridia Network

A recent Daily Mail article aroused our interest. The piece features Gemma who has WAGR, also known as 11p deletion syndrome after its genetic cause. It includes aniridia among its possible symptoms.

We were glad to see a national newspaper raising the profile of this rare condition. However a number of statements in the article sounded strange to us or merited investigation. Jenny, one of our trustees is the UK representative of the International WAGR Syndrome Association (IWSA). So she asked Kelly Trout, their Health Consultant to comment.

The Daily Mail claims WAGR is a “70million to one condition affecting fewer than 100 people worldwide”.
IWSA point to a study that gives an incidence of 500,000:1 and that they have around 300 members. Aniridia Network UK (ANUK) alone knows of 21 people here.

Another claim was that Gemma is “expected to get ovarian cancer in next few years “.
IWSA say “Both males and females are at risk for a type of cancer called gonadoblastoma”. The incidence is not known but is increased if they are born with certain genital deformities.

The full text of IWSA’s factsheet is below. It’s very interesting background knowledge.

We at Aniridia Network UK want to say a big thank you to Kelly and IWSA for taking their time to respond so fully on this matter.

We also invite Gemma,  her family and any others with WAGR in the UK to join our community. We provide useful resources and our support, plus that of others in a similar situation. In the meantime we wish Gemma all the best, including medically and academically as she grows up.

Facts about WAGR/11p Deletion Syndrome

Kelly Trout, RN, BSN
Health Consultant
International WAGR Syndrome Association
November, 2011

How common is WAGR/11p Deletion Syndrome?

The actual incidence has not been determined.  However, some indication of the number of people affected can be derived from the following:

  • “WAGR/11p Deletion Syndrome occurs in one out of every 500,000 to 1 million persons” (1).
  • There are approximately 300 members of the International WAGR Syndrome Association.  The IWSA is the only organization in the world dedicated to information and support for this disorder (2)
  • Worldwide, the incidence of aniridia (a feature present in nearly all cases of WAGR/11p Deletion Syndrome) is thought to be approximately 1/96,000.  85% of these are familial (inherited), 15% are sporadic (not inherited). One third of sporadic cases of aniridia are found to be WAGR/11p Deletion Syndrome (3).
  • Worldwide, the incidence of Wilms tumor (a feature present in 50% of cases of WAGR/11p Deletion Syndrome) is 1/10,000 (4).  In a study of 3442 US children with Wilms tumor, 26 had WAGR/11p Deletion Syndrome, a rate of less than 1% (5).

What is the risk of ovarian cancer in females with WAGR/11p Deletion Syndrome?

Both males and females with WAGR/11p Deletion Syndrome are at risk for a type of cancer called gonadoblastoma, which can form in the cells of the testes in males or the ovaries in females (6).  The actual incidence of this type of cancer in people with WAGR/11p Deletion Syndrome has not been determined.  However, this much is known:

  • In males, the risk for this type of cancer is increased in boys born with cryptorchidism (undescended testicle). The risk can be significantly decreased by surgical repositioning of the testicle into the scrotum (7).
  • In females, the risk for this type of cancer is increased in girls born with dysgenetic (“streak”) ovaries (8).  In a report of 7 cases of females with WAGR/11p Deletion Syndrome, 5 girls had absent, small, or abnormal ovaries, 1 of whom had gonadoblastoma (9).  Information about diagnosis and appropriate medical management can be found here: http://wagr.org/genitalissues.html

Pancreatitis and WAGR/11p Deletion Syndrome

Individuals with WAGR/11p Deletion Syndrome appear to be at increased risk for pancreatitis (10).  The actual incidence of pancreatitis is unknown.  However, the risk for this condition is thought to be increased because:

  • The PAX6 gene is deleted in most people with WAGR syndrome.  This gene is involved in the development of the pancreas, and it is possible that deletions of this gene may result in defects in the anatomy and function of the pancreas (11).
  • Many individuals with WAGR/11p Deletion Syndrome have a condition called “hyperlipidemia” or “hypertriglyceridemia.”  These conditions occur when there are high levels of fatty molecules in the blood, called lipids. It is thought that having high levels of fats in the blood increases the risk of pancreatitis (12).
  • Certain drugs can also cause pancreatitis, particularly in those who are predisposed to the condition.  These drugs include a wide variety of common medications and anesthetic agents (13).

References

  1. Low Levels of Brain Chemical May Lead to Obesity, NIH Study of Rare Disorder Shows
  2. International WAGR Syndrome Association
  3. Aniridia in the Newborn
  4. Epidemiology of Wilms Tumor
  5. WAGR Syndrome
  6. Testicular Cancer in Children
  7. The Facts on Undescended Testicles
  8. Gonadoblastoma
  9. Genital Abnormalities in WAGR Syndrome
  10. WAGR Syndrome and Pancreatitis
  11. PAX6 Controls the Expression of Critical Genes Involved in Pancreatic a Cell Differentiation and Function
  12. Learning About WAGR Syndrome
  13. Drug-Induced Pancreatitis
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Protected: 5 girls and 4 guide dogs go to Bognor Regis

Posted on Nov 23, 2011 by Jenny

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At school with aniridia

Posted on Nov 22, 2011 by Aniridia Network

Abbie-Rose

My name is Abbie-Rose and I am 14 years old which means I’m in year 9 at school. I live in Norwich and I have aniridia, nystagmus and a cataracts. I also have an auditory processing disorder (APD). My brother, my dad and I are all visually impaired. My mum is completely blind. We all have aniridia while my sister does not and is fully sighted.

At school I use different equipment like my laptop which
has Lunar Plus with a magnifier and speech. I also have a Compact Plus which is a video magnifier. Then there’s my binoculars which I use a lot for doing things like seeing the whiteboard at school or whatever is at the front of the class – though I do sit at the front in all my lessons. I also use my binoculars a lot out of school for things like looking out for the bus and checking I’m getting on the right one.

Also at school I have a teaching assistant (TA) come into my lessons. They help me with the stuff and they enlarge things I need like worksheets so I can see them.

When I started high school 3 years ago it was quite easy for me because no one really asked me questions until I went round to their house or into the city with me. They wanted to make sure I got there alright because I am visually impaired.

When I go out I use a symbol cane which tells people I’m visually impaired. When I use this it is much easier because people see you with the cane and try to dodge you, rather than waiting for you to dodge them – you get less people grumbling at you.

——-

What’s your experience of school and aniridia? Please add your comments below or better still write a short article like this one and send it to us.

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Give as you Live – a simple way to raise money for Aniridia Network UK

Posted on Nov 22, 2011 by Aniridia Network
  • Would you like to raise money for Aniridia Network UK?
  • Do you shop online?
  • Then why not join Give as you Live?

It’s an online shopping portal run by Everyclick.com featuring many well known high street stores such as:

  • Marks & Spencer
  • John Lewis
  • Dorothy Perkins
  • Monsoon
  • Toys ‘R’ Us
  • Early Learning Centre
  • Comet
  • Currys
  • Sainsbury’s
  • Tesco
  • Asda

Every time someone shops with Give as you Live the retailer makes a donation to the customer’s favourite charity. With Christmas fast approaching this is a great time of year to raise money through online shopping, whether it’s buying gifts, selecting a party outfit or simply ordering your groceries for Christmas dinner!

It’s easy to use,

  1. simply visit www.giveasyoulive.com and if you don’t already have an account with Everyclick it only takes a couple of minutes to set one up.
  2. Remember to choose Aniridia Network UK as your favourite charity when setting up your account and then you are ready to go!
  3. You can then browse Give as you Live to select a store and click on ‘Shop now’ to visit the stores website and make your purchases.

To make things even simpler you can download the Give as you Live add on for your browser which will automatically let you know when you visit a participating Give as you Live retailer to give you the option to raise money with your purchase.

Don’t forget you can use Give as you Live all year round too and it’s not just shops which are  included. It’s also worth a visit if you are thinking of changing your

  • utility supplier
  • mobile phone provider
  • insurance company
  • or even booking a holiday.

For more information visit Give as you Live.

Happy shopping!

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Protected: On your bike

Posted on Nov 21, 2011 by Aniridia Network

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Sinead’s introduction

Posted on Nov 21, 2011 by Sinead

Sinead wearing a black gown and holding a sroll

Hi, my name is Sinead. I am 29 years old. I have aniridia, nystagmus, coloboma, and glaucoma. I am registered blind as I have only have 5% vision. I live in the Republic of Ireland and am the country’s first visually impaired solicitor.

I recently finished a six month placement with the Department of Public Expenditure and Reform. I am now searching to fulfil my short term goal: to get a job working in a private solicitor’s office. My medium term goal is to specialise in the area of equality/disability law and in the long term to own my own law practice.

My disability meant that my childhood could be summed up as: a fight against adversity. Why? Because I was constantly fighting the system to get appropriate support.
I was also bullied, physically and emotionally due to my disability. Growing up, I was always made to feel as if I would never achieve, just because I had these eye conditions. Hence I had a very negative mindset of myself.

However, that all changed when I was 17 years old. My careers advisor advised me not to do law: it was a reading based subject and thus I wouldn’t be able to cope. From that day, inside me, I started a silent rebellion. I was going to prove her wrong and I was going to start standing up for myself. I told myself having a disability isn’t something to be ashamed about. In fact it is something which makes me unique. I started to embrace my disability as something positive and when people would try and bully me I started to stand up to them.

I did prove my careers advisor wrong. I went onto college and achieved a degree and masters in law. In March 2009 I qualified as Ireland’s first visually impaired solicitor.

The doctors tell me I should be using a white cane or a guide dog. Sometimes I use a white symbol stick sometimes I don’t. Why? Because I have a positive attitude and I have developed creative ways to get around without needing it all the time. People say “but that is mad, you’re blind – you should be using your cane.”

But what is blind? Everybody is blind in some way. Does that mean they should have white canes? People don’t want to see beyond the barriers. I believe that people can achieve anything by looking on life with vision of the heart. For example, look at Mother Teresa – such a small woman in height and yet she made such a powerful, huge difference in society. I believe that we can all make a positive difference in society. Yet, the problem is people are limiting themselves with their own personal short-sightedness – all they see is the barriers, the hurdles and the bad news. They don’t see the positive – the support network around them – the team, the gift of just being alive.

Outside of law I have a passion for motivating people and making a difference in people’s lives. Hence, I set up my own website called: The Kane Ability: ‘Believe in yourself. Anything is possible’. I am driven to help people. I want to inspire and help others. When I do motivational talks it gives me a feel-good factor as I am able to express myself and make a difference in people’s lives.

For me, having tasted both sides of the spectrum: both a negative and positive mindset I realise that I have a unique gift. However, I also realise I couldn’t have such a positive attitude towards life if it wasn’t for the positivity and good will shown to me by my family and friends.

All of us are affected, in one way or another by the people we meet. This happens instinctively and on a subconscious level, through thoughts and feelings. We can all be inspirations.

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Protected: See what we can do

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New approach to keratoplasty may be better for patients with iris implants

Posted on Oct 26, 2011 by Aniridia Network

A study has found that Descemet’s stripping endothelial keratoplasty (DSEK) can be better than penetrating keratoplasty in eyes with an artificial iris. In eyes with partial or complete aniridia it helps restore clarity of corneas and may mean quicker improvement in vision

The study wanted to increase the number of things that would suggest to doctors that the DESK procedure is appropriate. It also sought to encourage doctors who have performed it on patients with aniridia to share their experiences.

“Corneal surgeons should consider performing DSEK in the setting of previous penetrating keratoplasty, partial or complete aniridia, or previous glaucoma surgery,” Dr. Anthony J. Aldave, MD at UCLA in Los Angeles said. “A lot of surgeons in such situations, especially if there is a combination of these factors, would consider DSEK technically difficult to perform and would therefore proceed with a full-thickness instead of a partial-thickness transplant.”

Source and more details Ocular Surgery News

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Katie raises over £800 doing the Great North Run

Posted on Oct 18, 2011 by katieanuk
Katie sitting in the open boot of a car, wearing an Aniridia Network UK cap and tshirt

Katie sporting her medal for finishing the Great North Run

You may remember that recently Katie Atkinson took part in the Great North Run to raise money for Aniridia Network UK. Katie completed the half marathon race in 3 hours and 40 minutes and raised over £750 for Aniridia Network UK. With Gift Aid the total should rise to over £800. Huge thanks go to Katie and all those who sponsored her so generously. The funds will help to ensure we can hold our annual meeting in 2012 and more too.

Here Katie tells a little about her experience in taking part in Britain’s most popular race:

“I entered the ballot for a place in the race back in January 2011. The event is always oversubscribed so I wasn’t really expecting to be lucky enough to get a place. But then about a month later I heard I’d been successful.

I wasn’t very fit and I’d never run before but I was keen to raise money for Aniridia Network UK. I hoped that raising money for a good cause would help motivate me to get fit.

Katie running

Katie running during training

I began a training programme for beginners which began with short intervals of running and walking for a total of half an hour slowly increasing the amount of running every week. I have to admit I found it pretty tough and after a few repeats of running for 2 minutes and walking for 1 minute I was really struggling to keep running.

I decided I needed to build up my stamina so I started going on some brisk walks instead. Luckily Sheffield has some pretty steep hills so walking up those helped to build up my fitness combined with some longer walks in the Peak district.

In the summer I felt fitter and ready to try again with running. This time I tried the ‘Couch to 5K’ podcasts which I found on the NHS website and would highly recommend. Again they begin with short intervals of running and walking but a friendly voice on the podcast tells you when to run and when to walk which I found much easier than trying to look at my watch. The music also helped me to get into a rhythm and keep me motivated. By the time I finished the 9 week programme I could jog continuously for 30 minutes, something I would have never thought I could do before.

The Great North Run is a half marathon (13.10 miles) so I knew I wouldn’t be able to run the whole route but I planned to run for 30 minutes and then walk for 10-15 minutes before running again and keep repeating this trying to run as much as possible. I wasn’t sure if I’d ever even walked 13 miles in one go so I would be pretty pleased to have even just walked the whole way round.

We got up early on the morning of the race and had a good breakfast. My brother was also taking part for another charity and my parents were coming to support us. We drove to South Shields where the race ends and then my brother and I caught the Metro into Newcastle where the race starts.

When we arrived at the start line we were already a little late so we had to run to get our bags on the buses which would take them to the finish for us. There were huge crowds, in total over 50,000 people were taking part. The queues for the toilets were massive and I was still waiting when the warm up started but the atmosphere was very jovial and all had fun doing the warm up while we waited. Being partially sighted I was worried about finding my way around the start area. We had to start in groups depending on how fast we thought we would complete the race and my brother was in a different group from me but the groups were colour coded so I just followed the other people with pink race numbers like me. My group was right at the back so it took us 25 minutes just to walk forward to the start line after the race started!

Once we got going it was great. There were lots of people overtaking me, I guess some of them must have arrived late and should have been starting ahead of me. I tried not to fall into the trap of running too fast at the start, I didn’t want to tire myself out and I stuck to my plan. The race started on part of the motorway which had been closed for the event. It was strange running down a road we’d never normally be allowed on. Once we started to approach the Tyne Bridge lots of crowds began to line the route and cheer us on. My parents were somewhere up on the flyover just before the bridge but  with such huge crowds I couldn’t see them and they couldn’t see me!

Going over the Tyne Bridge was great, that’s the iconic picture I always remember from watching the event on TV. Not long after the bridge I reached the 2 mile mark so I slowed down to walk for a few minutes before starting to run again. The weather was quite warm and sunny when we started but then during mile five dark clouds appeared and it began to rain heavily. I ran most of that mile because I thought if it carried on raining like that I wanted to get around the course as soon as possible. I ran most of the first half of the race, probably doing 4 -5 mile in total then it started to become harder to run, luckily the weather had started to brighten up again. The 11th mile was the most difficult, I was really starting to ache by then, although strangely I ached less running than walking. Once I reached the final mile and turned the corner onto the seafront I really began to enjoy it again knowing I was nearly there. I made it to the finish line in 3 hours and 40 minutes.

The local people who came out and cheered us on even in the rain were brilliant. Even after three hours of watching people run past they were still there. The race organisers provided water on the route but some locals had brought refreshments to give out including sweets, sausage rolls and slices of orange. This really helped to keep everyone going on the last few miles. Crossing the finish line was a big relief and I was glad when I could finally sit down but I also felt very elated and was already thinking about doing it again next year, hopefully in under 3 hours next time. I did ache the next day but not as much as I thought I might and I was lucky to avoid any blisters. Despite all the hard work involved it was a really enjoyable experience and I’m pleased I managed to raise so much money. I hope I can do it again next year and raise even more!”

Aniridia Network UK relies on fundraising to be able to do its work. Please help us by giving what you can online. Alternatively what could you do to raise money for our charitable cause. Contact us if you have or want ideas for fundraising.

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Aniridia Network UK is founding member of new Aniridia Europe organisation

Posted on Oct 3, 2011 by Aniridia Network

Aniridia Network UK are very pleased to announce the creation of Aniridia Europe, a federation of aniridia patient associations, support groups and individuals from across Europe.

We have been collaborating with colleagues from across Europe for the past few years. With a lot of hard work from everyone involved, particularly Rosa from Spain and Neven from Sweden we now have an official organisation which covers the whole of Europe.

The aim of Aniridia Europe is to allow patients and doctors from across Europe to share their knowledge and experiences and to help new aniridia patient groups grow in countries which don’t currently have a support network.

Aniridia Network UK are very proud to be a part of Aniridia Europe. We have joined as a full member and will contribute to the growth and development of the organization. Katie Atkinson,  Chairperson of Aniridia Network UK has been elected to the Board of Directors of Aniridia Europe. We hope our members will see the benefits of being part of a European wide initiative.

We are already very excited about the forthcoming medical conference of aniridia being organized by Aniridia Norway which will take place in Oslo in June 2012. This will bring together researchers from across Europe interested in all aspects of aniridia allowing greater collaboration, reduce duplication of work and speed up the pace of research – benefiting everyone.

Aniridia Europe

Aniridia Europe was formally established on September 25th 2011 and has its seat in Norway.

The European Federation of Aniridia Associations – Aniridia Europe – promotes research, exchange of knowledge on aniridia and empowers patients with aniridia throughout Europe. More information is available on www.aniridia.eu.

“With the development of this Federation, we are removing barriers both physical and of knowledge, we are expanding our the scope of our activities, creating links between European health professionals and patients, as well as raising awareness on our rare condition”, says Rosa Sanchez Vega, the new President of Aniridia Europe.

Aniridia is a rare congenital eye disease, which implies lack of an iris. Several associated conditions, such as for example cataracts, glaucoma and cornea clouding, often cause severe low vision among those who are affected. Other organs of the body are also sporadically affected, as in WAGR syndrome where Aniridia appears together with Wilms tumour, Genitourinary problems and mental Retardation.

This European Federation helps to pool knowledge, to exchange experiences on this condition and to provide support both among doctors and patients, by trying to reduce the duplication of efforts and unnecessary tests, to accelerate processes, based on evidence, and to optimize resources, in short, to improve care and daily life for people living with aniridia.

“Aniridia Europe was founded by representatives of sixteen European countries including eight national aniridia associations from Norway, Sweden, France, United Kingdom, Italy, Spain, Germany and Finland. In addition we have aniridia networks and contact persons in several other European countries and in the future we envisage aniridia associations throughout the whole of Europe”, says Neven Milivojevic Vice-President of the Federation.

One of Aniridia Europe’s objectives is to have a scientific committee, in which different expert doctors and researchers on aniridia from each member country participate. This will facilitate the development of European research projects and European conferences on this rare condition. The First European Conference on aniridia is organized in Oslo, Norway 8-10th of June, 2012.

For more information, please contact:

Ms. Rosa Sánchez de Vega
President
rosa.sanchez@aniridia.eu
Phone: +34 646718142

Neven Milivojevic
Vice President
neven.milivojevic@aniridia.eu
Phone: +46 706390068

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