A Nova Scotia girl with a rare genetic condition has been selected to be part of a clinical trial, but the time away is going to cost the family hundreds of thousands of dollars.
In just a few short months, Tara Tanton of Cole Harbour, N.S., will head overseas with her eight-year-old daughter Harper.
“She was originally diagnosed with cerebral palsy when she was 20 months old, but it didn’t seem like a typical CP,” said Tara.
“She didn’t have any visible damage when they did an MRI. There was nothing really there to indicate that there had been any brain damage per se, so we kind of knew that it was a genetic issue.”
She said she pushed for genetic testing and eventually Harper was diagnosed with CTNNB1 syndrome, which is a rare genetic condition.
“It affects her speech. She has intellectual disabilities and delays, mobility problems, and a lot of regulation problems as well,” said Tara. “She cries a lot. She screams a lot.”
‘Isolating in many ways’
She said Harper was the first person the Maritimes to be diagnosed with CTNNB1. There are only a few hundred people worldwide to receive the diagnosis, though it’s believed there are more people who have it.
“It’s been challenging to say the least. Exhausting, absolutely exhausting. Isolating in many ways,” said Tara.
Because of how rare the condition is, the family initially felt very alone but they eventually found a community through Facebook.
“We found an international group which has really guided us through this whole thing, in terms of how to medicate, how to deal with behavioural issues,” said Harper’s dad Scott.
“We’re all kind of in the same boat and we all compared notes, and since then we’ve been helping some of the newer parents, so it’s really nice to be able to do that.”
‘It’s like winning the lottery’
Harper has now been selected for a clinical trial for a new gene replacement therapy. She’s one of three children worldwide to be chosen.
“It’s very exciting. It’s an honour. It’s really special. It’s like winning the lottery,” said Tara.
With the trial coming up, the Tantons are optimistic.
“We’re hopeful that she’ll be functional like everyone else, and it’ll give her a chance to reach her potential,” said Scott.
They hope the gene replacement therapy will help her become more mobile.
“There’s realistic hopes and then there’s dreams. My hope is just that she’ll have any improvement. Any improvement is improvement,” said Tara. “She has a lot of pain, so it would be nice if she could have a life that was pain-free and give her the ability to move freely.”
While the Tantons are excited for the trial, it comes with a financial burden.
“Harper and I need to go to Slovenia and stay there for seven months. We need to be there at month nine, 12, 18, 24, and 36,” said Tara. “It’s a lot of money… There’s a lot of expenses.”
Scott and their older son will stay back in Nova Scotia while Tara and Harper are away.
The family hopes to raise at least $250,000.
“It’s probably more than that, but that’s what we’re estimating at this point. We’ve got to start somewhere,” said Scott.
Community support
The community has already stepped up to help.
“Naturally, when we found out about this opportunity for her, we really wanted to come together,” said Jessie Meisner with The Pelvic Health Clinic in Cole Harbour.
“We’ve all sort of watched her grow up and evolve into the very kind and determined kid that she is.”
The Pelvic Health Clinic recently held ‘Harper’s Fair,’ which raised more than $5,000.
“This fundraiser was such a success. We saw so much community come together. We had local businesses donate, we had community members baking, we had vendors, we had games, face painting. It was fantastic,” said Meisner.
The family is beyond grateful for all the support they’ve received so far.
“It’s unbelievable to see how the community has rallied behind Harper,” said Tara.
“Nobody wants to ask for help, but, I mean, this is Harper and she can’t ask for help.”
The Tantons have also held a number of their own fundraisers – from a benefit dance to a hockey tournament to a community yard sale.
“Everybody’s who’s ever met her, remembers her and she remembers them, so we’ve had a lot of community effort,” said Tara.
Schedules for the clinical trial are still being finalized, but Tara hopes she and Harper will leave for Slovenia by the end of the summer.
Purple Day
As the end of Harper’s school year approached, her elementary school held a ‘Purple Day’ for her to raise awareness for CTNNB1 Syndrome.
“The school is absolutely amazing,” said Tara.
She said some local MLAs attended the event to show their support. The Tantons also provided all 230 students at the school with special t-shirts for Harper.
“Where she’s going to be away from her community next year, and basically miss out on her Grade 4, we really wanted the kids to have something that they not only could remember her by but would really make them reflect,” she said.
The shirt is purple, which is Harper’s favourite colour, and is available for purchase to help fundraise.
“The dragonfly is a symbol that the CTNNB1 Foundation chose years ago for our kids because it’s all about transition and transformation, so our cute little dragonfly follows us everywhere,” said Tara.
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