00:028 month old Bodie is vocal and active, but just months ago he completely lost his ability
00:10to move.
00:11His worst day was 74 seizures and that was the worst day of my life.
00:16To see a son like that and there's nothing I could do was heartbreaking.
00:22Bodie was diagnosed with KCNT1 related catastrophic epilepsy, a rare genetic disorder.
00:28Most of them die early in infancy, those who survive have severe disability and unfortunately
00:34no effective treatment available.
00:36Look at you!
00:38Doctors at Sydney's Children's Hospital in Westmead soon identified a potential treatment
00:42developed overseas, but it had never been given to a patient with epilepsy.
00:48The alternative was I was going to lose my son, so we thought why not?
00:52Bodie became the first in the world to receive the treatment through a new pathway in New
00:56South Wales aimed at fast tracking access to promising treatments.
01:01Open!
01:02Good boy!
01:04Within days the response was life changing.
01:07One minute to eight on the 24th of April was his last seizure.
01:11It's been the best news I have had in my whole career.
01:14Now Bodie is regaining important developmental milestones.
01:17To walk in and see this gorgeous, babbling, beautiful baby who's controlling his head and kissing his mum
01:25and really just doing everything a baby should be doing.
01:29Now the hope is that what doctors learn from this tiny patient could eventually open the
01:33door to treatments for other children with similarly rare diseases.
01:37Miracles do happen and you know just keep advocating for your children because I'll never stop advocating
01:44for him.
01:45A sign of hope for other families facing rare disease.
01:49Nineteen
