‘In one second your whole world is turned inside out’

The Timotheou family’s world was shattered when their young son was diagnosed with a devastating illness, but they found strength in the Save Our Sons Duchenne Foundation.

Melbourne boy Lucas Timotheou was three days off his fifth birthday when doctors told his parents he had Duchenne muscular dystrophy.

Amid the million questions swarming through devastated mum Mary’s head, the first that formed into words was: “Will my son be in a wheelchair when he’s 16?”

The answer, while delivered with compassion and care, was brutally matter-of-fact: “Yes.”

Looking back, Mary thinks it was an odd first question after such heartbreaking news – but  as she desperately tried to process the enormity of what she’d just learned, it seemed as good a place to start as any. 

What is Duchenne?

Duchenne muscular dystrophy is a degenerative disorder where the muscles progressively lose strength and bulk.

It is the most common muscle disease of childhood, and impacts around one in 3500 boys. In very rare cases (one in 50 million), girls may also be diagnosed.

“Those with Duchenne are unable to produce dystrophin, a protein needed for the strength and stability of muscle cells,” Mary says.“Without dystrophin, muscle fibres waste and die.”

Duchenne is caused by a gene mutation that is either passed down through the family, or the result of a new genetic change in the child.

Life expectancy for those with Duchenne is around early to mid-20s. Currently there is no cure.

• Inspiration: Dad’s mission to find a cure for Duchenne

Symptoms of Duchenne

Symptoms usually appear in children between the ages of two and five, and may include difficulty running, jumping, climbing and getting up.

Other signs include frequent falls, enlarged calf muscles, toe walking and language development.

Muscles first affected are usually those around the hips and upper thigh, and weakness gradually progresses to muscles used to hold up the spine, breathing muscles and heart.

By the time they’re 12, most children living with Duchenne lose their ability to walk.

Living with Duchenne

While Duchenne is considered a genetic condition, Lucas’s diagnosis is spontaneous, meaning he has no family history of the illness.

Lucas’ diagnosis devastated Mary, his dad, Harry, and his sister, Mia, 13.

At the time all that was noticeably different about Lucas was that he didn’t run.

“You think you’ve got this healthy little boy, then in one second your whole world is turned inside out and you’re left to deal with this horrible diagnosis,” Mary says.

Now 11, Lucas is still able to participate in many activities enjoyed by his peers, but he is becoming increasingly aware of the gap between his abilities and those of his friends.

While they become faster and stronger as they grow into young men, Lucas experiences the reverse.

“The challenge is now he’s recognising that he’s different (to his friends), that he does have restrictions,” Mary says.

“All his mates are on their scooters and their bikes, and he can’t participate. The effect of that has started to impact him emotionally. It’s rather heartbreaking.”

Support through Save Our Sons and the Walk 4 Duchenne

Soon after Lucas was diagnosed, Mary came across the Save Our Sons Duchenne Foundation, an organisation she now describes as her “life support”.

As well as providing practical support for the boys such as access to specially trained nurses and wheelchairs, Save Our Sons offer a community network of emotional support.

“That’s one of the most important things in being able to survive this journey, is support,” Mary says.

“I don’t think I’d be able to cope on this journey if it wasn’t for Save Our Sons. They give me hope and strength. Honestly I don’t know where I would be without them.”

Mary, Harry, Mia, Lucas and other family members will this month take part in the organisation’s major fundraiser, Walk 4 Duchenne.

The walk starts on February 28 and will cover 186km over nine days, visiting 11 schools that have a student affected by Duchenne.

“Lucas absolutely loves the walk, he’s made many long-lasting friends through doing it,” Mary says.

This year the walk – which last year raised $1 million – will finish at Lucas’ primary school and he couldn’t be more proud.

“Lucas is now in grade 6 and everyone at the school has his back, everyone is really caring. The support the school offers is incredible,” says Mary.

To take part or donate, visit Walk 4 Duchenne.

Written by Claire Burke.