She has an ultra-rare disease.
asserted
She → have → disease
Now this N.S. girl will be one of the first to test a possible cure
Harper Tanton, 8, to be 4rd child to test experimental treatment for CTNNB1 syndrome
The family of a Nova Scotia girl with an ultra-rare genetic disorder says they have hope for the first time that her condition will improve.
Harper Tanton, who is eight years old, will be the fourth child in the world to participate in a clinical trial for kids who have CTNNB1 syndrome.
asserted
who → test → syndrome
She largely depends on a wheelchair and has developmental and speech delays.
asserted
She → depend → delays
It's a critical moment for the Cole Harbour family, who have spent years looking for answers about the disorder.
asserted
who → spend → disorder
"It was predicted that she would never walk, she would never talk," said her mother, Tara Tanton.
asserted
mother → predict → ?
"She wasn't able to sit up until she was probably 16 months old."
Harper was initially misdiagnosed with cerebral palsy, even though an MRI showed no abnormal brain development or damage.
asserted
MRI → sit → development
Her mother refused to accept it.
asserted
mother → refuse → it
"I would be up until 3 o'clock in the morning every single night, going to the bottom of the internet to find something that resembled what was happening with my daughter."
asserted
what → go → daughter
Genetic testing eventually led them to CTNNB1 syndrome, a gene mutation that means the body doesn't produce a specific protein that is critical for development.
asserted
that → lead → development
Tara knows of fewer than 40 cases in Canada, three of which are in Nova Scotia.
asserted
three → know → Scotia
They were told there was no cure.
asserted
They → tell → ?
"There aren't many drug companies in the Western world that are going to fork out millions and millions of dollars for 30 kids."
asserted
that → be → kids
The family eventually connected with the CTNNB1 Foundation, based in Ljubljana, Slovenia, which was founded and primarily funded by families from around the world.
asserted
which → connect → world
Researchers at the foundation are using gene replacement therapy to see if it can either stop the progression of CTNNB1 syndrome, or potentially cure it.
asserted
it → use → it
Their clinical trial has been tested on two children so far.
asserted
trial → test → children
The foundation says those children are now learning to walk and their speech has improved.
asserted
speech → say → ?
Harper will undergo the procedure in the fall.
asserted
Harper → undergo → fall
Her mom says her body ideally will produce a normal level of protein within six weeks, increasing her ability to physically and mentally develop.
asserted
body → say → ability
"We have to do it," said Scott Tanton, Harper's father, who says they looked closely at the potential risks.
asserted
they → have → risks
"We are being cautiously optimistic, we know it may not be the magic bullet but that's kind of what we're hoping for, of course."
uncertain
we → know → course
The foundation's website says because this is a first-in-human clinical trial, there may be unknown risks, and a child's condition could worsen.
uncertain
condition → say → human
Harper needs to have weeks of tests before the actual procedure.
asserted
Harper → need → procedure
She and her mother will stay in Slovenia for at least six months, while her father and brother, David, stay behind in Cole Harbour.
asserted
father → stay → Harbour
Procedure expected to cost $300K
They estimate it will cost $300,000.
asserted
it → expect → 300,000
"Yeah, it's a big sacrifice for our family, but again I think if you asked anybody, they would do whatever they can for their child.
asserted
they → think → child
That's what we're doing," Scott said.
asserted
Scott → do → what
The non-profit organization told CBC News that while they cover the cost of the gene replacement therapy, the families have to pay around 100,000 Euros ($161,000 Cdn) in hospital fees, in addition to travel and accommodation expenses.
asserted
families → tell → expenses
The financial burden has sparked a community response.
asserted
burden → spark → response
People have held bottle drives, lobster dinners and yard sales to raise money.
asserted
People → hold → money
"I've had kids hand me envelopes of change from birthday money or from allowance that they've saved," said Tara, who is emotional about the response.
asserted
who → have → response
She hopes their story inspires others grappling with a rare disease.
asserted
story → hop → disease
"These children deserve a voice.
asserted
children → deserve → voice
If I had stopped, we would not be where we are.
asserted
we → stop → ?
If we had listened six years ago, we would have put Harper in a wheelchair at that point."
asserted
we → listen → point
She has an ultra-rare disease.
asserted
She → have → disease
Now this N.S. girl will be one of the first to test a possible cure
Harper Tanton, 8, to be 4rd child to test experimental treatment for CTNNB1 syndrome
The family of a Nova Scotia girl with an ultra-rare genetic disorder says they have hope for the first time that her condition will improve.
Harper Tanton, who is eight years old, will be the fourth child in the world to participate in a clinical trial for kids who have CTNNB1 syndrome.
asserted
who → test → syndrome
She largely depends on a wheelchair and has developmental and speech delays.
asserted
She → depend → delays
It's a critical moment for the Cole Harbour family, who have spent years looking for answers about the disorder.
asserted
who → spend → disorder
"It was predicted that she would never walk, she would never talk," said her mother, Tara Tanton.
asserted
mother → predict → ?
"She wasn't able to sit up until she was probably 16 months old."
Harper was initially misdiagnosed with cerebral palsy, even though an MRI showed no abnormal brain development or damage.
asserted
MRI → sit → development
…and 28 more, not listed.
The Aporia
