A glimmer of hope
By the time she ran into problems putting on her make-up, Christine Weafer already knew her eyesight was in trouble. However, she tells Joy Orpen that participating in an important clinical trial has given her cause to be optimistic
This time last year, Christine Weafer (26) had relatively good eyesight. But since then, she has lost a staggering 95pc of her vision.
How, you might ask, is an independent young woman supposed to deal with such a traumatic development? The answer lies in her own inner strength, and great family support.
Christine lives in Co Wexford. Her mother came from a family of 11, while her father was one of 13 siblings. After school, Christine studied dental nursing, and has spent the last eight years working for the same local practice, more recently as a manager. In her spare time, she loved the freedom of driving her car, and enjoyed following the latest fashion and beauty trends.
However, just before Christmas last year, she experienced difficulty putting on her make-up for a party. She'd done her right eye-make-up with no problem, but when it came to the left one, she couldn't judge the distance. She realised immediately that she might be in big trouble.
"My brother Alan was diagnosed with Leber hereditary optic neuropathy (LHON) three years ago," says Christine, adding that a number of family members on her mother's side have also experienced the same eye condition.
According to Fighting Blindness, a charity for people with visual impairments, LHON is a genetic disease that can lead to sudden sight loss. "Over time, the vision in both eyes worsens, with a severe loss of sharpness and a fading of colour vision. The loss mainly affects the central vision, which is needed for reading, driving and recognising faces. In most cases, it is permanent."
Christine says her maternal grandmother became visually impaired in her 20s, but only got a diagnosis of LHON much later. An aunt was diagnosed when she was 16, and her uncle got it when he was 40. (Sadly, he died 10 years later from cancer.) Then, three years ago, Christine's much-loved brother Alan, who is two years older than her, lost his sight.
Geraldine, Christine's mother, who accompanied her daughter to this interview, says it was tough for Alan to come to terms with such extreme sight loss. "He found it very hard," Geraldine says. "But the staff at Tesco in Gorey where he worked were extremely supportive. Christine was a great help to him as well, ferrying him around the place, and always being there for him."
So, it came as a heavy blow when, last Christmas, Christine experienced trouble with her own eyesight. However, with the festivities in full swing, they managed to sweep the problem under the carpet until New Year's Eve, when Christine again had eye problems. So she arranged to see an optician.
"He started with the left eye," she explains. "I was asked to read a chart, while they tried different lenses, and they soon found one that worked for that eye. But when they tried the right eye, no matter what lens they used, I still couldn't read the letters."
The optician advised her to go to A&E at the Royal Victoria Eye and Ear Hospital in Dublin the very next day.
There, Christine was examined by a nurse. "She asked me to read some letters. I couldn't even see the chart with my bad eye, so she got the ball rolling," she says. An early appointment was made to see consultant ophthalmologist Professor Lorraine Cassidy. Following subsequent blood tests, Christine learned her eye problems were caused by either optic neuritis (an inflammation that damages the optic nerve) or LHON. However, it would be some time before the results were known.
When Alan had been diagnosed with the condition two years previously, he had become aware of a clinical trial for LHON. But unfortunately, he hadn't been diagnosed within the one-year time frame specified by the trial. Now, Prof Cassidy suggested putting Christine's name down for a follow-on trial, which was about to begin in the UK.
"My head was really spinning," recalls Christine. Nonetheless, early in February, she and her mother went for an initial consultation to Moorfields Eye Hospital in London.
They returned to London a couple of weeks later to await the start of the trial on February 29, even though Christine still didn't have a formal diagnosis. Then, just one day before the trial began, a diagnosis of LHON was officially confirmed. The next day, she had injections in both eyes. One eye was given the trial gene therapy, and the other eye got a placebo. A computer decided which eye got what; that information will be revealed at a later date. The injections were given while Christine was fully conscious. "It was really tough," she says, "but you have to fight your own corner." Currently, she attends the hospital every three months, where she is given a full battery of tests. "I've absolutely no clue where this is going," she says. "But it is the only hope I have. If it does work, it might mean a cure for my brother as well; or it might result in a way of preventing the disease in the future so it doesn't happen to anyone else."
In the meantime, Christine has reduced her hours of employment dramatically, but is using that time to reskill. She is getting excellent support from the National Council for the Blind in Ireland (NCBI) on cane training, and on how to use equipment, given her visual limitations. She also has access to a number of helpful technologies: for example, she can send text messages by talking into her phone.
In spite of all her problems, feisty Christine did the Vhi Women's Mini Marathon as usual this year, to raise funds for Fighting Blindness. "I finished only seven minutes off my time from when I could see," she says. "I was absolutely amazed. I will do all I can to raise funds for Fighting Blindness. They provide all kinds of supports, including counselling, for people with impaired vision as well as their families. They are the light at the end of my tunnel."
Late last January, Stephen Bird, Christine's partner, took her to Rome, where he proposed. "It was probably the last holiday where I could still see," she explains. "It was a hundred times more beautiful because I knew what was coming."
As to her multitudinous extended family, Christine says: "They are just wonderful, and now Alan is being a really great support for me. It would be so easy to sit at home and do nothing, but this family wouldn't let you get away with that - and that's very gratifying."
To mark World Sight Day, Fighting Blindness will host a public engagement day with leading eye experts in Dublin on Saturday, October 14, as part of the international conference, Retina 2017, supported by Novartis.
Register at retina.ie, or tel: (01) 678-9004