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The Mutation Why

Genome sequencing helped doctors in Australia uncover a treatment for a boy with debilitating disease, Australia's ABC News reports.

Brandon Keesing had medical issues from a young age — he was hospitalized when he was six months old after a severe case of pneumonia left him unable to breathe. He was then in and out of the hospital with chest infections for the next few years, baffling doctors, ABC News adds.

Then when Brandon was about four, doctors suspected that he might have a mitochondrial disorder as he quickly deteriorated to not being able to walk and making it difficult for him to feed himself or write. "That was hard," his mother Kya Keesing tells ABC News. "Watching him fade away. Being the only boy in the family, you know, I wanted to see my little man get out and about and have fun and kick a ball. And he wasn't able to do that. And it was heart-breaking."

But about two years ago, when Brandon was 10, John Christodoulou, part of Westmead Children's Hospital genetics team, found using next-generation sequencing that Brandon did not have a mitochondrial disorder. Instead, he has a mutation in the COLQ gene, which is involved in coordinating communications between nerve cells and muscles, ABC News says.

This also pointed toward a treatment for Brandon. While he may still need a wheelchair for much of his life, Brandon has, since receiving drug treatments, been able to walk. "I'm outside a lot more. I'm doing things at school a lot more. A big change I guess in six months," he tells ABC News.