Catherine Boyer said her son Edward was the first person in Australia to be diagnosed with KIF1A.abc.net.au/news/kand-kif1a-rare-condition-hopes-for-bendigo-family-edward-boyer/102292636Parents of a Bendigo boy with one of the world's rarest degenerative conditions, which was misdiagnosed for years, are hopeful new research could slow the disease.
At the time of his diagnosis in 2015, Edward was one of just 12 people recognised with KAND in the world, but his parents were initially told by doctors he had cerebral palsy . It wasn't until 2016 that Edward's parents discovered the KIF1A Foundation — an organisation that believes the incidence of this condition could be in the tens of thousands, but many are yet to receive a diagnosis, or they've been misdiagnosed.According to the foundation, one in four of those diagnosed with KAND mutations previously had a cerebral palsy diagnosis like the Boyers.
"For Edward, the main thing that regressed so badly was his eyesight and his ability to walk," Ms Boyer said.