For patients and parents of people suffering from rare ailments, struggling for better is a fight worth taking
Joan Johnston had a long career as a physiotherapist. But that all changed when her son Leo was born. Now seven years old, Leo was born with Angelman syndrome, a rare neurogenetic condition which means he requires 24/7 care.
“He wasn’t hitting his milestones, so we had assessments and just a few months shy of his first birthday, he was diagnosed with Angelman syndrome,” she says. “He had a provisional diagnosis of cerebral palsy … it’s very common to initially get some kind of diagnosis and then have a genetic screening and get a refined diagnosis.”
A part of the condition is the development of seizures, with Leo having his first aged just 14 months. He also had difficulties feeding and was failing to thrive.
“I took carer’s leave from my work as a physiotherapist. I went into health advocate mode for Leo and I was like, ‘my son is going to achieve everything’,” says Johnston.