At two-and-a-half years old, Margot Toulmin is surrounded by love and full of giggles. But the family's little princess is one in a billion.
She's the only Kiwi, and one of 20 reported worldwide, with a very rare genetic condition: pontocerebellar hypoplasia type 6 (PCH6).
"There's no experts, at all, so we've become the experts, writing our own story," mum Frances Toulmin told Seven Sharp.
That story is a tough read, with little Margot's storyline uncertain.
PCH6 affects every part of Margot's development.
"She screamed for the first three hours of her life," her parents say.
"For those first three or four months, I probably used to Google every night 'brain injury'."
From five months, Margot has had hundreds of seizures daily. Thankfully those stopped a year ago and life's been much better.
Margot's days are chocka with therapy and appointments.
"It's all been about making her aware of her body," Frances says.
"It's not the journey you chose... but she's incredible and we're learning so much from her."
And because Margot makes them so proud, dad Sam's been training hard to return the favour.
Tomorrow morning he'll line up for the Coast-To-Coast mountain run.
"I'm a washed up retired rugby player who needed something else to do with his time," he jokes.
Luckily he's had some tips from the top... 2019 Coast to Coast champ Dougal Allan.
Every step Sam takes, he takes for Margot.
"I guess if I take a million steps so that Margot can take one, that would mean the world to me," he says.
Because where there's love, determination and swings, there's hope.
"She's proving everyone wrong... she's a wee fighter," Frances says.
SHARE ME