The fight to save boys with Duchenne muscular dystrophy

Sue feature image

“This disease could strike any family that has boys and you don’t need a family history. It’s an unstable gene, easily mutated. This could be any family’s disease.”

Professor Sue Fletcher’s journey began in Zimbabwe, led her to WA where she achieved her PhD, and now follows an award-winning career in medical research. Along the way, she joined forces with Professor Steve Wilton and with a dedicated team by their side, they pioneered a game-changing treatment for Duchenne muscular dystrophy (DMD).

Mainly affecting boys, DMD is a fatal progressive disease where every muscle in an affected body, including the heart, deteriorates. Patients are usually wheelchair dependent by age 12 and many don’t live beyond their mid-20s. Although a rare disease, DMD is the most frequently occurring, and one of the most rapidly progressive of the childhood neuromuscular disorders.

“I’m one of those fortunate people who has two healthy sons. My younger son doesn’t remember a time when he wasn’t going on camps for children with muscular dystrophy and hanging out with kids on wheels.”

A new scientific discovery re-defines what's possible

DMD was long considered by many as untreatable but this way of thinking wasn’t just challenged by Sue and Steve, it was proved wrong. Their conviction in that initial spark of an idea – the elusive eureka moment – was backed up by collaborative research spanning two decades to develop the first ever treatment that altered the natural history of DMD. While at a conference, Steve came up with the idea of tricking the cell to skip over the disease-causing error, acting as genetic ‘whiteout’. The drug they developed is a treatment, rather than a cure but boys previously expecting to be wheelchair-bound, are still able to walk into their mid- to late-teens and potentially beyond.

“My mother could never understand why I’d choose to go back to work once I had children. I took my mum on a MDWA camp and as the weekend went by, she became quieter. And at the end of the weekend she said, ‘Now I know why you do the job you do.’”

Like most scientific discoveries, theirs wasn’t straight forward. As well as a heavy dose of scepticism, they also contended with little commercial incentive to start a program when the market was likely to be small and the costs so high. Yet they persevered.

“We worked in a crumbling building with a leaking roof all those years. We put a plastic bag on our microscope in winter so it didn't get wet when the roof leaked.”

Then in 2013, Murdoch welcomed Sue and Steve as new staff members. State-of-the-art facilities, new opportunities to collaborate and the general campus environment encouraged the kind of thinking that changes lives.

“For the first time in my 25 year academic career I had a contract that extended beyond one year. Finding someone who actually thought enough of me to give me a salaried position was extraordinary. I'd never expected that I would get that level of recognition. So for me personally, it was the ultimate recognition and validation of my value as a scientist, something I had not had before.”

You either stop, or you keep going

Shortly after receiving her PhD, Sue married and when her first son was nine months old, her husband lost his sight. “I had to juggle childcare and everything else that goes with running a family while trying to maintain a career, something that many working parents do, but with additional challenges and without family support.”

“On occasions I have been despondent but I've never thought of giving up. I’ve always found a reason to keep going.”

Due to her different family circumstances, Sue hasn’t trod the usual path of presenting her work at international conferences, so her profile can still be described as a well-kept secret. Yet she still wins her fair share of awards, inspires scientists and non-scientists alike, attracts significant research funding and publishes numerous journal articles.

“As a woman in science, I say don’t ever think you deserve second best just because you have family responsibilities or different family circumstances.”

“My policy is always to be a little bit kinder, a little more generous and a little more considerate than necessary in everything you do. Including to yourself – sometimes you have to actually do that as well.”

The journey to success is paved with teamwork 

As researchers, we all dream of making a difference or changing the world. It’s not often that researchers take an idea from concept through to market – let alone see children benefitting from the product. Take this achievement and add it to the fact that people in Sue and Steve’s research team have been with them for over a decade, it’s clear they’ve mastered the art of teamwork.

“We encourage people to form their own work practices. Our researchers and students create informal teams based on commonalities of personality, purpose, project and work ethic. It means that they share the after-hours workload, someone might drive for half an hour to get to work and spend 10 minutes changing media on cells. If they can do two or three people’s cells this weekend, somebody will do theirs next weekend.”

Today, Sue is still pursuing ground-breaking research alongside Steve and their powerhouse team at Murdoch. Current research includes exploring the use of similar drug strategies in other neuromuscular diseases, including Pompe’s disease inherited blindness and cystic fibrosis..

“It’s wonderful what we’ve been able to do for Duchenne but there’s so many other diseases. There are so many opportunities to help people.”

What’s Sue’s advice to aspiring scientists and people aiming to make a difference?

“I say hang in there. Stay true to yourself, focus on doing good science, believe in those who support you.” 

With confidence and focus, you can make life-changing impact when you’re supported to pursue your eureka moment.

To find a degree which will take you there, browse our courses today. We’re ready whenever you are.

Posted on:

27 Sep 2018

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