Daughter Receives Mitochondrial Disease Diagnosis After She Stops Talking
September 26, 2014
Ataahua McFarlane was two years old and developing like most toddlers her age when one day she suddenly stopped talking.
It was out of character, recalls mum Christine McFarlane, who was left with countless questions.
“It was pretty instant,” the West Harbour, Auckland, resident said.
“She was developing normally and then stopped talking and her body started tremoring to the point where she couldn’t run or climb,” she said.
Multiple tests followed over several years and it wasn’t until Ataahua, now seven, suffered a stroke last year that she was diagnosed with a rare genetic disorder called mitochondrial disease.
Mitochondria are the powerhouses of the cell, and create more than 90 per cent of the energy needed by the body to sustain life and support growth. Less energy is generated within the cell when they fail and it can result in cell death.
Children with mitochondrial disease generally don’t live longer than their teenage years.
McFarlane decided to get her six other children checked after Ataahua’s diagnosis and they all tested positive as carriers of the disease.
Like Ataahua, they could stop talking or develop tremors at any point.
It’s a waiting game for McFarlane who’s dedicated to enjoying precious time with her family.
It took Ataahua months of therapy before she could talk again and the stroke left her struggling at West Harbour Primary School.
“She had to relearn everything from new entrant level,” McFarlane said.
But it hasn’t stopped Ataahua from smiling and enjoying all that life has to offer.
“She’ll see a butterfly in the garden and the innocence and joy she has is just so beautiful,” McFarlane said.
“It’s about making memories every day, spending as much time together as possible and maintaining her health.
“You go through a massive grieving process every day and when you see them do beautiful things, you wonder how long they’ll be able to do it for.”
There’s no medication available for mitochondrial patients so McFarlane is making sure Ataahua stays as healthy as possible with multi-vitamins and homegrown veges.
Metabolic pediatrician Callum Wilson from the National Metabolic Service says the condition results in an inability to produce energy in the normal way.
Wilson says it can affect anyone at any age.
He says there’s no treatment options available for the vast majority of cases yet researchers are focused on significantly improving the lifespan and quality of life for patients.
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