Kids with Duchenne Muscular Dystrophy urged to sign up for trials

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    Duchenne muscular dystrophy

Like most young boys, Mackay brothers Archie and Jensen Kynaston love going to the beach and the park.

But their family has been told their lives will likely be cut short by a devastating genetic condition called Duchenne Muscular Dystrophy.

Mother Jacqui said seven-year-old Archie was diagnosed in February this year after teachers at his school noticed he was having trouble with walking and running.

“The teachers, for months said ‘you need to go get him checked, he’s not doing the same thing kids his age should be doing’,” Ms Kynaston said.lood tests confirmed Archie has the genetic condition, as well as two-year-old Jensen.

Ms Kynaston said while the boys are healthy now and lead largely normal lives, they have had to start thinking about purchasing wheelchairs and other equipment and making modifications to their house.

“We’re looking at lifts for the house and down the track widening doorways and disability bathrooms and all that sort of stuff,” Ms Kynaston said.

“It is definitely hard, especially when you look at them now and they’re so good.

“You just can’t imagine them not being able to walk, feed themselves, or everything that they’re going to lose the ability to do.”

Duchenne affects the X-chromosome, meaning boys are more likely to have the condition.

One in every 3,500 boys are born with the condition

The disease starts by affecting muscles in the legs and then progresses to the heart and lungs.

Typically those with the condition do not survive past their 20s or are severely disabled as adults.

Doctor Anita Cairns, a paediatric neurologist with Children’s Health Queensland, said while research is continually improving treatments, there so far is no cure.

She said early diagnosis is critical.

Archie and Jensen Kynaston

“There are treatments available, including steroid medicines, but they cause very severe side effects,” Dr Cairns said.

She said newer genetic therapies, which are being clinically tried in Europe and America, had showed promising results.

“These include exon skipping, which uses a genetic band aid to skip over the gene mistake,” Dr Cairns said.

“It’s not a cure, but it makes the severe Duchenne into a more milder form, so the boys can walk for longer and have fewer side effects like heart and breathing problems.”

She is using World Duchenne Day today to encourage all families with Duchenne children to sign on to the national registry to ensure they can be included in any future clinical trials.

Ms Kynaston hopes a cure will be found in her sons’ lifetime.

“You don’t know how long you’ve got your kids for and it’s really made me realise we need to do good things while we still can,” she said.

“We need support to find cures and make our boys have good lives.”