KEY POINTS:
Shacia Parata runs unsteadily along Dunedin's Ocean View beach.
She stumbles and falls but won't give up. Once she is on her feet again, she runs along the sand laughing.
Watching the 6-year-old chase waves it's hard to believe that 12 days ago she was often too tired
to move.
A mystery health problem she'd had since her toddler days had worsened to the point where she spent school days in a wheelchair, unable to sit on the mat or run and play with her classmates.
After school, Shacia would curl up on the couch barely able to lift her arms or speak properly. "'Cause I felt yukky," she said.
But a recent possible diagnosis of dopa-responsive dystonia and medication to treat it has changed her life dramatically.
She is now walking more easily, is full of enthusiasm even in the afternoons and refuses to have anything to do with her wheelchair.
"I can do ballet," Shacia said.
Seeing her daughter walk down the road unaided for the first time in her life brought a tear to mum Niki Miller's eye.
"I'm stoked with the result."
Six months ago, Ms Miller, 24, faced the realisation that her daughter might never be like a "normal" child.
"It started to hit me, not knowing what it was. The last year has been a struggle as I thought about the future for her and me as well."
Ms Miller first noticed something was not right with Shacia when she was 16 months old . "She fell over a lot, couldn't balance."
The problems continued as she grew older. Shacia was good in the mornings but by afternoon was increasingly fatigued, unable to walk and struggled talking.
Visits to the doctors resulted in a slew of tests including x-rays and a MRI (magnetic resonance imaging) scan but nothing conclusive was found. She also had physiotherapy and botox injections in her calves.
"She progressively declined. At 2, she was bad but then it got a hell of a lot worse."
Shacia's lack of balance meant she fell over a lot and her lack of strength meant she could not break her fall or push herself back up.
"She's cracked her head open, fallen and cut the corner of her eye on the TV cabinet. Her legs are always covered in bruises and grazes."
It was a lumbar puncture this year that pointed doctors towards the possible diagnosis and the three-month medication trial, said Ms Miller.
"I was told not to get my hopes up but I wasn't going to anyway, I just thought if it does work it's a bonus."
Last Wednesday, Shacia was given her new medication for the first time and by 7pm she was sitting up in her hospital bed playing cards.
"She's never done that. Usually by 4pm, she's huddled on the couch."
For Shacia's aunt, Lara Miller, it was too much. "It made me cry my eyes out. It's like a huge gift."
Brighton School principal Robin Davidson said the children could not believe Shacia's transformation.
"It's caused a real buzz and everyone is looking out for her."
The little girl who could not sit on the mat, who had to be helped to the toilet and struggled to write now could not sit still.
"She is facing new hurdles she hasn't faced before. She doesn't know her limits."
Ms Davidson said Shacia could now hold her head up when she fell and her handwriting had also improved. "She's been given a chance, which is the beauty of it."
Living with dystonia
* Dystonia is a neurological movement disorder characterised by involuntary muscle contractions. It is believed to be due to a malfunction of the basal ganglia in the brain.
* Its impact can be as severe as Parkinsonism and multiple sclerosis. Sufferers have normal intellect, personality, sight and hearing.
* About 2000 people in New Zealand have dystonia.
* It has no cure but treatments enable sufferers to live a full life.
- OTAGO DAILY TIMES
