Breaking barriers with the community on World Duchenne Awareness Day

For those living with neuromuscular conditions such as Duchenne muscular dystrophy, the sometimes small, but meaningful things many of us may take for granted, don’t always come so easily. As a practicing neurologist for many years, I witnessed this first-hand and it is what drives all of us at Roche to understand such conditions better and develop effective treatments. The theme of this year’s World Duchenne Awareness Day is ‘Breaking Barriers’, and we’re pleased to be part of the conversation to help address just that.?

What is Duchenne and how does it affect people?

Duchenne is a severe, muscle-wasting disease that progresses rapidly and relentlessly from childhood. It almost exclusively affects boys, with an estimated 1 in 3,500 - 5,000 people living with the condition globally. Due to a mutation in the DMD gene, those with Duchenne do not make enough dystrophin, a protein that is essential to the healthy functioning of muscle. Without dystrophin, muscles become weaker and waste away as muscle tissue is replaced with scar tissue and fat. Symptoms normally start between the ages of two or three, but diagnosis is often delayed because of lack of awareness or not having the correct tools to diagnose early. This means that Duchenne is often not diagnosed until children are four or older.?

Even with the best care, by their early teens, those living with Duchenne will lose the ability to walk and need a wheelchair. As the condition progresses, other motor functions slowly degenerate. Ultimately, this affects the person’s ability to breathe and the function of their heart. As a result, children living with Duchenne are very reliant on their parents, families and caregivers – and this continues into adulthood.

Duchenne affects everyone differently but the disease trajectory is fairly well established. As many boys with Duchenne head into their teens, a time of great importance as first steps towards independence and burgeoning new friendships are taken, their dependence on caregivers only increases. Their ability to participate in society decreases. Families – parents and siblings – affected too. Many parents have to give up work to look after their children. The physical, emotional and financial demands of caring for someone with Duchenne can take its toll, as well as having a significant impact on society.?

Breaking down barriers

There are things that we can all do to help increase and improve possibilities for people affected by neuromuscular conditions like Duchenne – from better accessibility to public spaces, schooling, employment opportunities and community engagement.?

Researchers are breaking down barriers too. While medical care has advanced considerably over the decades, even with the best possible care, people with Duchenne can only expect to live into their twenties to thirties. But, there is hope with recent advances in research and treatment. Researchers are focused on deploying therapies that target the underlying cause of Duchenne, modify its trajectory and slow it down, rather than treat the symptoms.?

Beyond therapeutics, new digital technologies and tools can be used not just to diagnose Duchenne, but also to better monitor daily movement and abilities, and therefore optimise care for boys with Duchenne. This can include how small changes in a person’s environment, such as removing mobility barriers, may greatly benefit their quality of life. These can also be used to educate a range of audiences about the daily impact of living with the disease. With this awareness will come - hopefully - more support for changes and openness to innovation.

I hope this World Duchenne Awareness Day we can come together to break down barriers and unlock the full value of innovation to improve the lives of all those living with Duchenne, and make a meaningful difference to society.