Minto boy on a quest to spread the message of his rare disease

Luke De Silva won't let a rare disease stop him. Picture: Jeff de Pasquale
Luke De Silva won't let a rare disease stop him. Picture: Jeff de Pasquale

When the De Silva family of Minto welcomed their son Luke into the world, they figured he was one in a million.

Now mum Sharon says that is literally true of her nine year old boy who has been diagnosed with a rare disease – so rare that it affects one in one million children.

The De Silvas are on a mission to spread awareness of Chronic Recurrent Multifocal Osteomyelitis (CRMO) during the disease’s awareness month this month.

The disease causes inflammation because the body’s immune system attacks normal bone, usually in one or more parts of the body. For Luke, it has meant severe pain in his hip, both shoulders, his T12 spinal nerve and lower back.

‘‘We don’t want people saying ‘poor Luke’. We just want people, and in particular doctors, to know what this is to eliminate all the unnecessary testing Luke went through and the anxiety,’’ Mrs De Silva said.

She said diagnosis took four months and only came when an astute chiropractor suggested an MRI after x-rays, a CT scan and a visit to an orthopaedic specialist failed to reveal any answers for the pain Luke was experiencing which often left him so weak he struggled to get out of bed.

‘‘At times he walked like an 80 year old, so slow because if he walked any faster he would scream from the pain,’’ Mrs De Silva said.

It was after a four day stint in Westmead Hospital in August that doctors finally gave Luke’s illness a name.

‘‘At first it was such a relief to have a diagnosis but our next question was what’s CRMO?,’’ she said.

The De Silva’s turned to social media and found a support group that in turn led them to a Sydney based rheumatologist, one of the only doctors in the country well versed on the rare disease.

‘‘He prescribed Luke some medication and after three days he was out of pain and could walk without help,’’ Mrs De Silva said.

‘‘He’s off the steroids now and started anti-inflammatories and so far he is ok.

‘‘Every morning I wonder if it will flare up. If that day does come, there are other medications we can try.’’

Through the support group, Luke met a CRMO sufferer in the United States who sent him a care package including chocolates and a CRMO t-shirt. In return, Mrs De Silva had some CRMO silicone wrist bands made up and sent them to the young girl ‘‘to pay it forward’’.

‘‘Luke is such a trooper, he doesn’t complain. He really is one in a million,’’ she said.