00:03Curious and driven John Pearce is a happy little boy but had he been born a few years
00:11earlier he wouldn't have made it to his third birthday he's our little miracle a big miracle
00:17right now John is Carolyn's third child in 2014 her firstborn Hannah wasted away before her eyes
00:25we had her eight months and 22 days before she died both children inherited type 1 spinal muscular
00:36atrophy or SMA a genetic condition that causes severe muscle weakness and affects breathing
00:42for John there was a treatment it's one of those things that you never thought you'd see in medicine
00:48he received state-of-the-art gene therapy to supply the gene needed to make a protein that
00:55supports motor neurons science fiction really real life science fiction specialists remember
01:02what it was like before when families were crushed by the diagnosis the year before the clinical trial
01:09we had seven babies diagnosed with spinal muscular atrophy and they all died on the wall of another
01:15home hangs a family portrait and a vial of medication the Macintoshes have three daughters
01:23three daughters rena and willow both live with SMA but timing has shaped their experiences proud eldest
01:31sister rena is alive because of treatment she received from five months old with a diagnosis
01:38made before birth the littlest Macintosh got therapy on day one willow will have different
01:44opportunities because she was treated so early yeah without these treatments we would have
01:49probably no children Queensland is expanding access to advanced therapies through clinical trials to
02:01help more children eight percent of the population have a rare disease which accounts for about two
02:06million Australians or four hundred thousand children the treatments for SMA have literally been the
02:12difference between life and death but doctors and families are conscious the first children in the world to have
02:19the therapies are still only young they're optimistic it'll keep working into adulthood I wouldn't bet against him
Comments