Blind scholar could help fix her own condition

As a terrified teenager losing her sight, Alix Coysh was advised not to choose a career in science. Something more tactile, like masseuse, would be a more suitable profession, she was told.

Doubting her ability to cope, Coysh held off confirming her enrolment at the University of Auckland until a fortnight before her classes in biological sciences began.

But five years on, and almost legally blind, Coysh is about to begin her PhD, using the ground-breaking science of bioinformatics to make new inroads into understanding the genetics of cancer.

Then she’s off to Oxford University, to work with the team leading the quest for a cure for her rare condition. There’s nothing she hopes for more than that one day, her sight will be restored - and that she might get to play a part in fixing it.

Coysh, now 23, has retinitis pigmentosa, a genetic disorder which progressively breaks down the cells in the retina and has no treatment. Although she was told to be prepared to go completely blind by the age of 20, she still has some degree of sight.

“When I look at things, they’re not as detailed as they should be. I can see your outline, but I can’t tell you what colour your eyes are. It’s all about contrasts,” she says. “I see millions of pinpricks of flashing light constantly. If I’m tired and have less oxygen, the lights will be more like a bright line of light travelling across my eyes. It’s not good.”

Coysh began to lose her sight at the age of 12, when a teacher told her parents that she struggled to  see writing on the whiteboard, but only when the markers were low on ink. An optometrist gave her glasses, which she soon abandoned when they made little difference.

At 15, an ophthalmologist picked up the signs of deterioration in her sight. “I thought my vision was OK, but they could see that the retinal cells were starting to die,” Coysh says. “All of my life I’d seen these flashes of light, but I didn’t think they were unusual, until I found out they were a symptom of the cells being sick.  

“The diagnosis was really upsetting and scary, but at the same time, I didn’t fully understand. If I’d got the diagnosis as an adult, it would have been more devastating.”

In her mid-teens, she lost some of her peripheral vision, became colour blind, and found it difficult to see in the dark. A promising young athlete, it became impossible for her to go to soccer trainings at night. It became harder to see at the movies.

“Then I started to get scared, when everyone else was planning what they were going to do after school - at university and in jobs. I started to doubt myself as I thought about what I could possibly try to do with limited sight,” she says.

She wanted to study, so considered law, engineering and her passion, science. “Reading takes me forever, so I discounted law,” she says.

“But when I approached the university, they said ‘Don’t bother with uni, especially not science’. I began to wonder if they were right.”

Through the encouragement of her parents, Adrian and Ruth Coysh, and her friends, Alix decided to continue with her plans to become a research scientist. “They all said ‘You’re clearly an academic person, so you should be embracing that. You’ll figure it out.’ And once I started uni, I handled it,” she says. “I learned to learn differently.”

In the first semester of her biological sciences studies at the University of Auckland, Coysh had an assistant help her with lab work. She taught herself to touch type at speed in lectures.

By the second semester, as she began working on computer programmes, she adapted her computer and phone by inverting the colours on the screen – a black background with white text. She also had the computer read text to her. “For exams, I could read the papers under a monitor which blew them up, and had the colour of the paper changed,” she says.

“It was at that point that I got angry that I hadn’t been pointed in the direction of things that could actually help me. In my last year of school, I could have had someone to read out my exams or blow them up.”

Having completed her Bachelor of Science degree, Coysh began her Masters in biomedical science. She quickly picked up how to write code with the help of her supervisor, and focused on bioinformatics - an evolving science, using computer coding to investigate and analyse biological data, like DNA.

“There’s a real need for bioinformatics. It’s a complex field, but its growing, because with genetic research you need people who can analyse all the data,” Coysh says. “I’ve always been interested in researching cancer - it has such a significance to the population, so it’s interesting and rewarding.”

During her Masters studies into the genetics of leukaemia, Coysh made five “discoveries” – finding five separate genetic anomalies in patients where leukaemia ran in their families, which warranted further research.

Her PhD will focus on using new technology to do more detailed genome analysis on multiple myeloma in plasma cells. “I’ll be writing code to better understand that cancer,” she says. Her code should be able to be used in all areas of genetic research. Much of the work she can do from her home in Patumahoe, south of Auckland.

Coysh is also preparing to head to England next year, and take up a three-month internship in bioinformatics at the University of Oxford. The internship came about after she read an article on retinal research and emailed a scientific question to Robert MacLaren, a professor of ophthalmology at the university whose research team is devoted to finding new treatments for blindness.

MacLaren’s team has made international headlines this year for using gene therapy to restore the sight of blind mice with retinitis pigmentosa, reprogramming cells at the back of the eye to become light sensitive.

A Skype interview led to an unexpected offer of a four-year PhD at Oxford, but Coysh was happy to stay in Auckland to do her doctorate, and opted for a shorter internship.

While going through CGAT - the university’s Computational Genomics Analysis and Training programme - she will use retinal data to learn bioinformatic “tricks”. “It makes you an advanced bioinformatician, which will help my PhD and my career,” she says. “There aren’t a lot of us in New Zealand.”

The data she will use includes patients who also have her degenerative genetic disorder. “I’ll be trying to find the gene that could be causing it. If you don’t know what’s causing something, generally you can’t fix it,” she says.

“While I’m really interested in retinal and cancer research, I can apply the bioinformatics to any disease and do the same thing, with the aim of finding what’s causing it. I want to help people, but I’m just as happy to use bioinformatics to help improve plants; to do something that will have an impact.”

If she can find the specific gene mutation causing the breakdown of her retina cells, it will also help her siblings. Her younger sister Sara and brother Thomas, both in their late teens, also have retinitis pigmentosa.

If she regained her eyesight, Alix would play soccer again. For now, she runs on a cross trainer and uses a trampoline to keep fit. “I wish I had read more; I think I would enjoy that. Not being able to drive is annoying too,” she says. She’s been denied entry to bars and clubs: “People think I’m drunk because I can’t look them in the eye.”

Coysh wants to help change people’s preconceived ideas about people with disabilities. She’s started by getting involved with her father’s diversity-focused recruitment company, JobCafe, and his website, possibility.net.nz, which showcases the career pathways of people with disabilities, and helps others to find jobs.

Adrian Coysh gave up a successful career as a finance and accounting recruitment agent to help young people like Alix and her siblings pursue careers and gain meaningful employment.

“Alix is keen to help me promote the cause, and she has a great story to tell,” her father says. “One of the things we’re particularly keen on doing is reaching students while they’re still at school, because too often they get bad career advice, like Alix did.”

Alix wants to draw in more businesses committed to diversity and inclusion to advertise their roles with JobCafe. So far in life, she says, she hasn’t experienced a lot of prejudice: “In academia, people have been pretty open-minded and pretty good to me.”

Her eyesight, though, continues to fade. “I hope not to lose all sight - there’s a big difference between not being able to see well and not being able to see anything at all,” Coysh says. “I just want to be able to keep doing what I’m doing, and making an impact.”

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