Fighting Blindness is a patient-led organisation. Everything that we do is led by and is for the patient. If you or somebody you love is dealing with sight loss or blindness and are interested in getting more involved in the work that we do, please let us know. Here are a number of patients who did just that.
Living with AMD – Meet Joe O’ Callaghan
Age-related Macular Degeneration is a much talked about eye condition in the present day, but eighteen years ago when I retired, the condition was unknown to me. I now had more time to indulge my hobbies, which included an interest in music and an occasional game of golf.
I did some choral singing and performed as a soloist also. My general health was excellent and is so today. In 2003, I became concerned about my sight.
There was notable deterioration. Night driving, in particular, became difficult. Oncoming lights, road markings, white lines became a problem. At this stage I went to my optician who recommended I take it further and see a specialist. He diagnosed AMD and explained the condition to me. Understandably, I was shocked, but he did assure me I would not go blind. I was advised to visit the National Council for the Blind, who cater for not only blind but people with any degree of visual impairment. I received invaluable help in selecting low-vision aids. I visit occasionally to keep in touch with developments in that field. This equipment enables me to keep up my reading needs but at a slower pace.
I have also discovered the enjoyment of audio books from my local library. Having never been an avid reader, this has opened another door.
I continue to walk regularly, usually with my wife, Eileen (pictured above). I joined a group called MIST (Macular Impairment Support and Togetherness). We meet once a month and spend a couple of hours comparing notes and, on occasion, listening to invited speakers. I find these meetings very beneficial.
I am a member of Fighting Blindness, and through their meetings and newsletters, I learn of the progress being made in the quest for suitable treatments for all eye conditions and for the various stages of AMD. As a result, I remain optimistic, even at my age, that some degree of improvement in my situation may soon be possible.
Since my diagnosis, new doors have opened and I have made new friends. I have learned to adjust my life to live with AMD and today, I am glad to say, I lead a happy and contented life.
When Joan Kearns was 15 and on her way to school, she noticed she could see the bus coming but couldn’t make out the number on it. This was to be the beginning of a difficult personal journey which changed Joan’s life and resulted in her having to learn to live with the gradual deterioration of her sight.
Joan, now 50, said: “My mother took me to the opticians and they tested me three times and said there was something at the back of my eye but they couldn’t detect what it was and sent me to a specialist.”
She regularly attended Dublin’s Eye and Ear Hospital but was never given a diagnosis. In fact Joan had Retinitis Pigmentosa – RP.
When Fighting Blindness was founded as a support group in 1983 they were given a list of everyone with the condition and wrote to them with the details. One of the letters was waiting for Joan when she got home one day.
“I didn’t know I had RP,” she said. “When I read the explanation of what it was – tunnel vision which can lead to blindness – I burst into tears. My parents were of the generation when they didn’t ask questions – they trusted the doctors and I trusted my parents. And probably behind it all I didn’t want to know anyway. From there it was a downward spiral – for six months I brushed it under the carpet. It was affecting me psychologically – my confidence was slowly being chipped away. I lost the art of thinking for myself and how to problem-solve.”
Still not attending the hospital and with no information or support, Joan found life very difficult. She finally took the leap and attended a Fighting Blindness meeting with her mother.
“I barely got into the room and saw people with canes and guide dogs and it frightened me so I said to my mother ‘we’re going’. On reflection, I’d never come across the term ‘visually-impaired’ – I thought you were either blind or fully-sighted. I didn’t know whether I was going to go blind overnight and didn’t go far away from home because I didn’t know if I was going to go blind there and then and couldn’t get home. This was a huge terror always in the back of my mind. I remember lying on my bed in my early 20s and the lights went out and I thought ‘it’s happened – I’ve gone blind’. I went down to tell my mother and she was lighting candles – it was just an ESB strike. Up to 1983 I had a good social life I had friends and thought I knew where I was going. All of a sudden this hit me I didn’t know where I stood in the world – the solid ground I thought I had had gone. I fell between two worlds – the sighted world and the blind world – and didn’t know where I fitted in.”
By 1992 both of her parents had died, her sisters were living abroad and she didn’t have a job. But despite her difficulties she completed a diploma in floristry and began attending Fighting Blindness meetings. She was encouraged to take a telephony course which forced her out of the house, to try new things and to think for herself again.
Joan’s peripheral vision has now gone but she still manages to live independently, shop for herself and works part-time teaching IT to people with visual-impairments.
She said: “I never could do sports or drive a car and my biggest problem is going into clothes stores. I can’t distinguish certain colours so it’s very important that the colour is written on the labels. When I’m walking by myself I’m constantly scanning around – up, down, left and right. If I’m going somewhere new and there are a lot of people around I’ll scan to see where I can go or sit before I move.”
Joan is philosophical about not being told of her diagnosis. “My experience was character-building – I have realised how strong a person I am and the things in life not to get upset about. I also hope I’m more understanding of other people. I don’t accept RP. To me, when you accept it, it means you have totally taken it on board and that’s it. I have good days and bad days but RP is not number one on my list – I learnt to put it into the rest of my life.”
Steven Howarth was 18 when he took part in a revolutionary gene therapy trial part-funded by Fighting Blindness in 2008. Steven has a rare genetic condition called Leber’s Congenital Amaurosis and the gene therapy helped partially restore his sight.
At the Fighting Blindness AGM in October 2008, he told our members what taking part in the trial at University College London/Moorfields Eye Hospital, was like. He is pictured here (centre) with Fighting Blindness Head of Research Prof Michael Comer (left) and Prof Robin Ali (right) who led the gene therapy trial.
“I have had this condition since birth. I was diagnosed when I was eight years old. That was thanks to my mum as beforehand they were giving me glasses and saying I was lazy. My mum read an article about the condition and it mentioned all the symptoms I had.
I was contacted by the people at Moorfields Eye Hospital in London who said they were doing this trial and they asked if I was interested in taking part.
I was joyous because if it is possible to cure it, that is the main thing I want in life – to stop the degeneration of this eye because I didn’t want to go blind.
The clinical process was fine. Before the operation you had time going through the benefits and the complications there could have been. They left it up to me to choose whether to go through with it or not. Because they are doing the trials on your worst eye, I think it is worth it because if there are big benefits it is going to help you and it will help science in general.
After the operation – which was done under general anaesthetic and took about two hours – it took a few months to recover.
In the daytime I have always been fine but at night time I had no sight under streetlights. Now I have been taking different routes home so it has really halved my journey times home.”
Growing up as a child, I thought everyone saw the world the way I did. What I didn’t realise at the time was that I had a hereditary condition called Retinitis Pigmentosa (RP), and it was getting worse.
What it means is that my peripheral vision is gradually creeping in from the edges, leaving me literally with tunnel vision. By the time I was 20, it was a little bit like walking around looking at the world through a pair of toilet roll tubes!
It wasn’t until I was about 18 though, that I began to realise something wasn’t quite right. For a start, I kept crashing the car! Nothing serious, but I’d clip a bollard or a wall on a narrow road, and it only seemed to be happening to me, not my friends. I knew something was wrong, and it wasn’t long after
the last crash that I was diagnosed with RP.
Can you imagine? One minute I think I’m just like everyone else, the next I find out I’m slowly going blind!
I couldn’t drive anymore. I was working as a draughtsman, so I had to look for a new profession. And RP is a degenerative condition, so things could only get worse. Plus, because it’s hereditary, there was the added risk of passing it on to my children in the future.
I was on the edge of despair when I discovered Fighting Blindness, a small, Irish support group that had been started a few years earlier by the families of six people with RP. They were incredibly helpful.
But looking back, the most amazing thing is how that family support group evolved into the charity responsible for leading the world to the brink of curing Retinitis Pigmentosa.
Unfortunately it’s now too late for me to expect a miracle cure. My sight has degenerated to the extent that when I look at my daughter’s face, I can no longer see both of her beautiful blue eyes at the same time. People sometimes tell me she has my eyes, before they realise what they’ve said.
But the good news is that although she carries the gene that causes RP, the chances are that she won’t develop it. There’s no guarantee of course, and the same may not be true for her children, and that’s why a new breakthrough in gene therapy which Fighting Blindness helps to fund is so exciting.
No one has ever found a cure for an inherited form of blindness before. But research teams funded by Fighting Blindness, in Dublin and London, are now on the verge of doing just that. The key to their success is in the nature of RP itself – the fact that it’s carried in our genes.
The Fighting Blindness research team at Trinity College in Dublin is trying to develop a new gene therapy capable of arresting the progress of RP. They are so close to achieving this breakthrough, but making medical history is a costly business. And that’s why they need our help today.
When Fighting Blindness started 30 years ago there were only questions. Today, they have the tools for a cure in our hands. They’ve already achieved some remarkable results in testing, and are hoping to start human clinical trials within a few years.
This success has been brought about by the determination and vision of ordinary Irish people, from the founders of Fighting Blindness to the equally visionary supporters who have joined us along the way. Why not get involved?
When diabetic Áine Mae O’Mahony was 25, she went from having 20/20 vision to being totally blind within the space of four weeks. Determined not to be defined by her blindness, she turned her back on the usual tools, and in the process reinvented herself. She is now doing the job she always wanted to do.
No pun intended, but I have always looked on the bright side of life, and the first thing to say is that, if you have to go blind, there has never been a better time than now.
Even 20 years ago, losing my sight would have meant losing my independence. Job opportunities would have been limited to say the least. But today there is nothing that a sighted person can do on a computer that I can’t do just as well, if not better.
Not that I knew any of this in the autumn of 2006. I was two years into building up my own business – I had taken over a café in Ennistymon, Co Clare – and life was rosy. One morning, shortly after coming back from holiday, I tried to blink away a small dark patch in my right eye and failed. When I looked into the mirror, my eye looked completely normal and, with a sense of dread, I realised it must be an internal bleed.
Everybody with diabetes is warned of the risks to their sight if their insulin levels get out of balance, so I knew how blood vessels that supply the retina can become blocked and then burst. When this happens, the new ones that grow to replace them are even more fragile and even more likely to burst. But I’d had an eye test two years previously for my driving licence and nothing negative had shown up, so whatever it was, I thought it couldn’t be that serious.
My optimism proved to be misplaced. The rupture of blood vessels in my retina was too far advanced for any of the simpler procedures. Two things needed to be dealt with urgently: the growth of new blood vessels had to be controlled and the bleeding stopped. I started laser treatment immediately and was told to expect an immediate improvement in my eyesight. It fact it got worse, and when I found I was straining to read signposts, I knew I had to stop driving.
My last visual memory is of sitting in the passenger seat of my aunt Nora’s car on the way to my next laser appointment.
Robert MacLaren is one of the foremost specialists in diabetic retinopathy. He is also the professor of ophthalmology at Oxford University, and his area of research is gene and stem-cell therapy. He told me my detached retina was like wet crumpled tissue paper that would have to be smoothed out before it could be put back in place. He also told me that I had glaucoma in my left eye. This is when the drainage tubes become blocked, and when the pressure builds up it is extremely painful. All in all, it was highly unlikely that my sight could be restored, he said. But by this stage all I wanted was not to worsen the situation. In 2007 stem cell research was already making headway and I believed – and still believe – that there will come a time when regenerative bio-technology will enable me to see again. For that to have a chance of success, however, I need my eyes to be as healthy as possible.
That first year my life was in a pickle. Everything I had taken for granted had been snatched away, so inevitably there were times when I felt down, but I learned that these feelings did me no good, and they passed.
I am a great believer in the benefits of a positive mental attitude. I don’t dwell on what I can’t do. I focus on what I can do, and – bar the obvious like driving – you can do practically anything if you do it in a certain way. What I do miss are simple things that most people take for granted – like being able to walk out and look at the ocean, or jog along the beach without needing somebody with me.
As for the future, all I can say for sure is that I am hopeful. But I’m not going to sit around and wait. Life is for living and having a laugh.
Back in January 2006 our son Adam was aged 18th months when we noticed a slight turn in his left eye. We thought it best to get it checked by a specialist fully expecting that it would be simple to diagnose and resolve.
We were devastated when the consultant informed us that our son may have a rare eye condition. Furthermore, he had a haemorrhage in his left eye and would need to undergo immediate surgery to have it removed.
We never heard of X-Linked Juvenile Retinoschisis or XJRS before, but following genetic testing it was confirmed to us that this was the diagnosis. XJRS is a juvenile form of macular degeneration. Adam’s condition is extremely rare and we did not know of any other person with a similar condition.
To say our world fell apart was an understatement and although our family network were extremely supportive we did not know who we could turn to for professional help.
The first contact I had with Fighting Blindness was in April 2008. I made the connection with Avril Daly following publication of a news article on gene therapy for LCA.
Avril spoke to me about Fighting Blindness and how the organisation supports research for treatments and cures for blindness. Avril also told me about the counselling services that Fighting Blindness provided.
I availed of the excellent counselling services and this support network was instrumental in helping me through an extremely difficult time. They also introduced us to experts in the retinal research field which in turn led to a pivotal meeting with Dr Paul Sieving in the Kellogg Eye Institute in Washington DC. Dr Sieving was conducting research into a cure for XJRS.
Adam was accepted onto two clinical research study programs led by Dr Sieving and without the support from Fighting Blindness, these meetings would never have happened.
Looking back, when we were told there was no cure for Adam’s condition it actually strengthened our resolve to push for progress in research and ultimately a cure for his condition. I believe Fighting Blindness truly supports this goal with the significant investment it continues to make in research and support services.
“Fighting Blindness is an amazing organisation and I’m proud to say I’m part of it.”
If you would like to write about and share your story, please email firstname.lastname@example.org.