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.
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.
Dr Joan Han, a physician at the National Institutes of Health in Bethesda, Maryland, USA, who is researching aniridia and WAGR/11p deletion syndrome has a question for you:
Do the eyes of anyone with aniridia not move fully to the side when looking side ways?
This picture shows what she means.
Symptoms of abducens palsy
The symptoms to look for are
Note this is different to nystagmus where the eyes move involuntarily and strabismus where the eyes cannot align to look in the same direction.
Dr Han says “We are trying to study abducens palsy – that’s a defect in the nerve that controls outward gaze of the eyes. This can happen with just one eye or with both eyes.”
“We’ve observed inability of one or both eyes to gaze all the way to the outside side of the eye in some people with WAGR syndrome, but not in people with isolated aniridia thus far. But I think this might because we haven’t seen that many people with isolated aniridia.”
If you or your child has aniridia but not WAGR/11p deletion syndrome as well, and you think there might be a problems gazing sideways, please contact Dr Han by email hanjo@mail.nih.gov
Katie has recorded some points about melatonin, a supplement which some people with aniridia and other conditions use to aid their sleep.
Note: Katie referred to the pituitary gland when she meant the pineal gland.
Jenny has previously told her story about trying to obtain melatonin in the UK.
As an update Jenny says “It’s hard to find the right dosage balance – I know this from personal experience and from parents of children with WAGR/11p deletion syndrom (they didn’t find it effective at first, until they tweaked the dosage, and some had to lower it).”
“I find 3mg isn’t enough and 5mg is too much. That’s with melatonin obtained from America. So the neurologist I saw suggested taking 2x 2mg. That’s why I take circardine mainly because it does come in 2mg doses in is slow release.”
Today government plans for the biggest shake-up of the welfare system for decades come in to force. Hundreds of thousands of households across the UK will be affected by the changes to benefits.
An article in the Mirror last autumn featured Terri, one of our members. It was published on the day Prime Minister David Cameron told his party conference and the nation he planned to make more cuts. Terri told how for her benefits are essential and should not be reduced.
Terri is 50 years old and registered blind due to aniridia and glaucoma. She lives with her three daughters ranging from 20 to 16 years old in Lancashire. In the article she says:
“This Government seems to think the longer you’re blind the less help and support you need. It isn’t true. There is no more money to take from us – nothing left to give.”
I was born severely sight-impaired but in my 30s, when I had children, it deteriorated even more.
To me, your Government does not understand disability. I rely on my disability living allowance of £105.90 a week to get by, but more than half of that goes on paid assistance, where a carer comes round for 12 hours every week.
Once they discovered a jam jar full of fly eggs where my daughters hadn’t resealed it properly – I would never have noticed.
Can you imagine what it would have been like if I’d eaten them?
I have to spend a lot of money on washing powder because I’m more likely to get my clothes dirty. It also means it’s costing more in terms of electricity and wear and tear on the washing machine itself.
The bus stop is five minutes away, which might not sound very far, but when you’re carrying heavy shopping and using a cane, using a taxi is the only option. That can be as much as £24 a week.
I don’t go out, I don’t drink, I don’t have money for treats or anything special and I can’t really cook meals from scratch, so I rely on ready meals, which makes shopping more expensive. My weekly food bill can be as much as £120 a week.
I don’t need anything else to make me feel like a second class citizen, I already do. But any changes to DLA will make life untenable.
I fear for my three daughters’ future. There’s already a school of thought that suggests those on benefits don’t deserve them and don’t want to work. This simply isn’t true. Ask any disabled person and most will tell you they’d love to work if only they could.
I’m also a single parent, which brings its own stigma.
There’s a belief that the children of those on benefits will grow up on them too. Again, that’s not true.
Please don’t make any more cuts. The impact they have makes people more vulnerable and I fear for what will happen if more is taken from those who desperately need it.”
83% of people with aniridia also have nystagmus (‘wobbly eyes’). It is a factor in how much vision these people have.
Here is an opportunity to contribute to research in to nystagmus.
Nystagmus affects quality of life in all sorts of ways, but no-one has ever measured its impact before. A researcher at University of Leicester is doing just that with a quality of life questionnaire that is specific to nystagmus.
If you’re over 16, have nystagmus (with or without aniridia too) and you live in the UK you can help by answering the questionnaire. It has to be done on paper and will take about 30 minutes to complete.
To get the questionnaire, email Rebecca McLean rjm19@le.ac.uk with your postal address and saying you would like to take part in the nystagmus quality of life research. She will then post you the survey, consent form and information explaining the project.
For more about nystagmus visit the Nystagmus Network.
Article about Claire in the North East Evening Chronicle
To promote the North East England aniridia meet-up in February that I organised, I got myself interviewed by the local newspaper.
Here is a scan of the article. Click on the image to view it full size and then zoom in your browser as necessary.
Sorry there is not a text version of the piece – unless someone volunteers to type one – please?!
If you want to meet more people near you who are affected by aniridia, how about arranging an event to do so? It is easy to do and Aniridia Network UK will help with the publicity. Contact communications@aniridia.org.uk with your ideas.
To celebrate Rare Disease Day we encouraged people to each answer 5 questions about their rare condition and how they feel about it:
Listen to the answers of those affected by aniridia
You can add your thoughts to these in text in the comments below or by recording your own on Audioboo.
Rare Disease Day. It’s an annual international initiative to raise awareness amongst the general public and decision-makers about conditions like aniridia and their impact on people’s lives. By going along people not only enjoyed themselves but also help generate publicity for the day. Find out more at the Rare Disease Day website and follow it on Facebook.
To mark Rare Disease Day 2013 we have a story of just how incredibly helpful it is to bring people affected by a rare disease together.
A parent contacted our befriending scheme last November. She has two children, the youngest being two years old with sporadic aniridia and nystagmus. She was anxious about her daughter’s future and was initially put in contact with a young woman with aniridia who is 23 years old. From the quote below you can see that this proved to be very helpful.
“I wanted a contact who had aniridia as I felt that we had been given lots of information but were missing the personal aspect of living with the condition. My buddy was very open and honest and it was very helpful to talk to her. She was able to explain a lot about the condition that had either gone over our heads or we were unable to take on board.
We had been in denial that our daughter’s eyesight could be a problem as she was doing so well. My buddy explained how my daughter’s eyesight might deteriorate as she got older in a real and understandable way. She was able to answer the question that other professionals had been unable to explain to us. I think at the time of diagnosis we had been emotionally unable to take on board all the possible secondary complications.
We rarely saw our daughter’s consultant and when we did there was not enough time to process what he said in order to ask more questions. These questions were forgotten about by the next appointment six months later.
After speaking to my buddy, we spent a couple of weeks feeling like we were back at the initial stages of her diagnosis again with all the uncomfortable feelings this brings. However, we now feel that we have worked through this and we can support our daughter more effectively and realistically.
I also had a session with my daughter’s vision teacher who went through information on a website about aniridia; helping me to form questions to ask my daughter’s consultant next time we saw him.
Talking to my buddy has moved me out of denial into a place where I am more realistically able to support my daughter and find relevant services. Generally finding out more about the condition has enabled me to find a route to get my daughter an MRI scan to see if any other areas of the brain are affected which in turn will enable us to access relevant support earlier.
Apart from my buddy’s general positive attitude to life she was able to discuss with me what she had found helpful and supportive from both a parental and educational point of view. I have tried to adopt a ‘can do’ approach with my daughter so if she comes up against a barrier she won’t just stop but find another way around. My buddy has given me other ideas of how we can do this. I have never believed that daughter would live anything other than a normal life but it would perhaps be slightly harder for her. My buddy has shown me the realism behind this belief.
We have also found out about research into aniridia. The lady spearheading it had some helpful insights and knowing more about our daughter’s future, enabled us to face up to how vital and underfunded research is into the condition. By sharing this with our families they have supported this research by asking people for donations rather than flowers at my granddad’s funeral. ”
We have now also put this parent in touch with another family who have a child slightly older than her daughter.
If you would find having a buddy useful, find out about our befriending scheme.
