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HomemistoryLiving with Ushers

Living with Ushers

Edan Chapman was born with the rare genetic disorder known as Usher syndrome. He is – and always has been – profoundly Deaf. Now he is going slowly blind from retinitis pigmentosa. This is part one of a two-part story on Edan Chapman’s battle with Ushers.

We are all defined by our genetic makeup– 25,000 pairs of genes that determine the colour of our hair and eyes, our height, our sex, our physical and mental health… the list goes on. Within those 25,000 genes there are many mutations, some insignificant, others that cause problems and lead to diseases.

Two of the leading causes of adult blindness – glaucoma and age-related macular degeneration – are caused by a complex combination of both lifestyle and genes.

Sixty per cent of infant blindness can be put down to congenital cataracts and glaucoma, optic atrophy and eye malformations and retinal degeneration.

I was going to go blind. No whens. No maybes. No NOTHING. Just ‘You’re going to go blind…

Retinitis pigmentosa – the collective name for a whole group of genetic retinal conditions – is known to be caused by over 55 specific genes and more are being discovered all the time.

Quite simply, if mutated, these genes damage the light sensitive photoreceptors; known as the rods, found at the periphery of the retina, as well as the cones at the centre the retina. Initially retinitis pigmentosa diminishes peripheral and night vision. Later it affects a person’s central, detailed and colour vision.

The symptoms typically appear between age 10 and 30.

Edan’s Story

Edan Chapman, who lives with Usher syndrome Type I, first became aware of the symptoms of retinitis pigmentosa when he was 13.

Cup your hands either side of your eyes and it may start to give you some idea of how limiting it is to have just 5 per cent of your peripheral vision.

But it is no longer just the peripheral vision that is being stolen away. Over the past couple of years Edan’s central vision has been getting more blurry. It is harder to focus. Sometimes he has a film over his vision that just refuses to go away.

Describing himself as a ‘photographer of all trades’, Edan says while fading sight has limited his working lifespan, “that doesn’t mean I’ll ever stop shooting photos… you’ll have to pry the Canon 5D out of my stiff fingers in my coffin to stop me from continuing with that passion”.

Edan’s story is so powerful; his journey so unique, mivision has chosen to tell it in his own words in a two-part series. In this first article, Edan relates his struggle to accept his fate, and how he discovered his passion for photography.

For years I struggled with the knowledge of my doom. Being Deaf is NOT an issue. I don’t give a rats. It’s great. I have a beautiful language and culture.

Blindness is the snake on the apple tree for me. The horrible knowledge… aahh.

I had one of the worst introductions to Usher syndrome I know of.

I’ve been a nomad since I was a kid. Dad was the ‘grass is greener on the other side’ kind of man. The parents split when I was a baby and mum lived in Byron so that was my base and I would spend a year with mum then go to wherever dad was – in Germany, Australia or New Zealand (Wellington.)

I got a cochlear implant when I was seven. My mother insists that she explained it was because of my Ushers but all I remember is the doctor saying “You’ll be able to hear”… the doctor probably thought it would be interesting to see if it worked… unfortunately, I threw out the external part when I was 11 because all I got was white noise and I was sick to death of the whole thing.

My first trigger that something was happening to my sight was when I was 13. You need to remember, your brain is an amazing tool. It adjusts to an incredible degree and can fool you into believing you are fine. I was playing spotlight with the usual gang of kids. I started to notice I was always getting caught because I simply could not see properly at night. Once I tripped and scratched the corner of my temple and broke into a cold sweat – I had almost stabbed my eye out on a tree support post. That night I asked mum in frustration why I couldn’t play properly. She stopped, looked at me and said “Don’t you remember?”… I cried for hours that night and just wanted to die. ALL she (and now I) knew at that point was this ONE SIMPLE FACT:

I was going to go blind.

No whens. No maybes. No NOTHING. Just “You’re going to go blind”.

The thing was, mum had no answers either. When? How fast? Tomorrow? The answer to all of those was “I don’t know”. I cried for hours.

Adjusting

I started doing drugs then. Developed insomnia. Became a loner. Felt sorry for myself. I was suicidal from 13–16. If I could have just disappeared, I would have. Life seemed pointless.

I love art but gave it up except for my perennial sketch pad and pencil I would have in my bag when I hitched all over the shire in my late teens. I did stupid things.

It took me years to realise I was still okay and it was not just some Russian roulette of waking up without sight. I wish I had known that all that time ago, it would have made things vastly easier. I often wonder if the stress actually contributed to making my vision disappear faster.

As it is, I’m looking at a 13” laptop screen from roughly 50–60cm and I can just see the whole screen and the tips of my knuckles as I type. So that’s about 5 per cent of my peripheral vision left.

The interesting thing I’ve found is that the information I have read about Ushers is pretty misleading. It is NOT JUST the peripheral vision. Over the past year or two I’ve noticed it’s the central vision too, it’s getting more blurry, harder to focus, sometimes I have a film over my vision that just refuses to go away, I have to blink several times and rub my eyes to get it to go away and sometimes it just doesn’t. Daytime is getting harder to see – despite my night blindness, I prefer night. The light is stable. It’s consistent. So my pupils can adjust to that level and STAY AT THAT LEVEL.

Cloudy overcast days are the worst. The glare! UGH. I detest these days. Ironically, the ‘headquarters’ of deaf blind services is in Melbourne, the city with the most consistently overcast days in Australia.

Finding the Camera

Over the years though, I realised something important. I can still see.

I had wasted over 10 years avoiding art and stuff because I thought it was pointless but in the end, all I did was rip myself off.

At 24, I got a scholarship to The Learning Connexion (a School of Creativity and Art) in Wellington, and decided to go for it. I completed the course then got side-tracked by life… one day I simply realised I was still taking photos with my old Sony 3.1 megapixel camera that my uncle had given me when I was 21 and that I loved taking photos. I got angry with myself and enrolled into TAFE when I was 27 and did Cert II in Tools for New Media and then moved to Melbourne to DO SOMETHING WITH MYSELF. I also went and bought a Canon 5D Mark II DSLR. Expensive as hell but worth it.

In December 2011, I bid for and won the position of the Official Photographer of the 2012 Australian Deaf Games in Geelong. It was one of the hardest jobs I have ever had to do but I kicked ass. Yeah, you heard me right. A nearly blind Deaf guy got given the job and did a fantastic job at that.

Usher Syndrome

Usher syndrome is categorised into three broad groups by the degree of deafness however it is a variable condition and the degree of severity is not tightly linked to whether it is Usher I, II or III.

In Usher Type I, there is severe damage to the cochlea from a very early age and therefore the child has severe deafness from birth. The child usually develops problems with night vision and tunnel vision due to RP in the first 10 years of life.

In Usher syndrome Type II, the hearing loss is more variable. Symptoms of RP usually develop from late adolescence to late 20s.

Children with Type III Usher syndrome have normal hearing at birth. Although most children with the disorder have normal to near-normal balance, some may develop balance problems later on. Hearing and sight worsen over time, but the rate at which they decline can vary. A person with Type III Usher syndrome may develop hearing loss by the teens, night blindness usually begins during puberty and by mid-adulthood, the person is usually legally blind.

Although there is no cure for Ushers, clinical trials are underway with such things as nutritional therapies and encapsulated cell technologies. The best treatment is to identify the disorder as early as possible and begin educational programs and other services straight away. This helps reduce the communication and learning problems that can result from hearing and vision loss.

I’ve tried to get more work as a photographer but sadly, the Deaf community is not a big one in general terms and most don’t have great jobs so we’re not a rich demographic so I endlessly get asked to do work for free.

To be honest, if I didn’t have the blind pension (ha!) I would never be able to continue my passion for photography or be able to do what I do. It’s amazingly ironic. If I wasn’t going blind, I wouldn’t be able to be a photographer!

These days I’m just focusing on trying to take photos of things I like, I don’t make any money. I’ve pretty much given up on ever making any kind of living from it.

That’s the worst part of what’s happening for me now. I’m just taking stuff one day a time, a few months ago I almost broke down with stress and all so I cut out everything and started again. That was the best thing I ever did. Went to Cambodia for a month alone and that was quite the experience. Cambodian people are so beautiful. I love to smile. I love to hug people. The western world is a bit sad that way, if you smile at people in general they react first with suspicion or just ignore you.

In Cambodia, hurtling down the dirt roads in a tuk tuk, everyone who looked up at me and saw me grinning my head off and waving did the exact same back to me. I loved them and they somehow just knew that and loved me right back. It was EXACTLY the tonic for my tired soul and I came back with new hope.

Sure, it’s s***. It’s f*****g hard. I cry a lot. More each year it seems. But the funny thing is sometimes it’s actually tears of appreciation, of being able to see 18 years after I thought I would go blind any moment. God, what a gift! A flower. A dead insect. A blade of grass. The top of a mountain. The mist. A woman’s eyes. Happiness on a face. Hugs. Smells. Touch. I’m still pretty alright and I try very hard to remember that every day.

Next issue we will cover the second part of Edan’s journey with Usher syndrome.

Promising Gene Therapies

One in every 3,000 Australians is born with retinitis pigmentosa, a genetically inherited eye disease that begins by robbing night and peripheral vision before moving on to affect a person’s central, detailed and colour vision. Currently there is no cure for retinitis pigmentosa, however promising gene therapies are beginning to give rise to hope.

Potential Protective Therapy
While there is currently no cure for retinitis pigmentosa, a recent collaboration between UK and American scientists has given some hope for the future.

The findings, published in the journal Molecular Therapy demonstrated that gene therapy was able to protect the light-sensitive photoreceptor cells responsible for colour vision in a mouse model of retinitis pigmentosa.

Mice with rod degeneration underway at four weeks, were dosed with a virus modified to produce human ciliary neurotrophic factor (CNTF) protein. The researchers discovered that as a result of this, cone receptors benefited from life-long protection and the retina preserved useful vision.

According to the authors, although CNTF has previously been shown to prevent the loss of photoreceptors and retinal ganglion cells, concerns surround its toxicity. In an attempt to overcome this, the researchers devised a unique approach to treatment facilitating precise titration of the gene therapy dose in an effort to minimise any toxic effects.

Speaking of the findings, Dr. Dolores M Conroy, Director of Research at Fight for Sight said, “One of the most exciting prospects about these results is that the CNTF treatment was able to preserve vision even though rod degeneration had begun. This is a top priority for people with inherited and progressive eye conditions such as retinitis pigmentosa and age related macular degeneration.”

While there is a long way to go before any treatment reaches the clinic, Dr. Conroy said the research was exciting because “it is certainly possible to look ahead and see that there will be a day when we can prevent sight loss with complex genetic involvement.”

Restoring and Strengthening Visual Pathways
While clinical gene therapy trials have already successfully restored some sight to people with blinding genetic eye disorders, a recent study has found that gene therapy can also restore and strengthen visual pathways in the brain.

Described as “one of the first great success stories for gene therapy” researchers from the Perelman School of Medicine at the University of Pennsylvania and The Children’s Hospital of Philadelphia (CHOP), injected a virus containing a good LCA2 gene into people with Leber’s congenital amaurosis Type 2 (LCA2). This rare disease afflicts people who inherit a mutated copy of an LCA2 gene from each parent.

Published in Science Translational Medicine, patients who received the gene therapy in their worse seeing eye went from being blind or near blind to being partially sighted and able to navigate almost normally.

When the patients’ brains were imaged two years later, the researchers found, on average, “big differences between the side of the brain connected to the treated region of the injected eye and the side connected to the untreated eye”.

Speaking of the study, senior author Professor Jean Bennett, the F.M. Kirby Professor of Ophthalmology at Penn and director of the Center for Advanced Retinal and Ocular Therapeutics said, “It’s an elegant demonstration that these visual processing pathways can be restored even long after the period when it was thought there would be a loss of plasticity”.

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