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Alberta family advocates for ultra-rare gene condition on Rare Disease Day

An Edmonton family is hoping that by sharing their daughter’s story of living with a rare condition, it will help others feel less alone.

Ashley Barra had a normal pregnancy but her daughter Brooklyn failed a routine hearing test when she was born.

“We didn’t think much of it. We thought it was a random thing,” said her husband Michael, who added they went for follow-up testing. “As we failed those, we realized this might be something serious.”

The Barra family said Brooklyn wasn’t meeting her developmental milestones like rolling over or sitting up on her own.

“When she was eight months (old), she started having these little eye flickers,” Ashley said.

Brooklyn was sent to a neurologist who confirmed those flickers were seizures and she had epilepsy.

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In the meantime, samples were sent around the world for genetic testing. Eventually, the family got the diagnosis of a SPATA5 genetic mutation.

Epilepsy, hearing loss and global developmental and intellectual delay are all symptoms of the condition.

“We ended up doing some genetic testing, including a test called exome sequencing, which is a test that essentially reads through all 20,000 genes at once,” said geneticist Alison Eaton.

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“This test identified the genetic diagnosis for Brooklyn.”

Brooklyn Barra is expected to be one of only two people in Canada with this condition. Even her medical team didn’t know much about it when they received the diagnosis.

“This was a gene that was really only identified in association with a a condition in 2015, so it’s reasonably new,” said Eaton.

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“You have a loss of community,” said Ashley. “Who can I reach out to because it’s such a rare genetic condition?”

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The Barra family found that community by linking up with the SPATA Foundation on Facebook. The director and founder of the foundation, Mariah George, has a son Luca, who was diagnosed with a similar disorder to Brooklyn.

“The first thing we did was go to the internet and Google,” said George. “The only thing that we found was a 70-page medical research journal.”

“We felt so lost,” said George.

“How many other people has this happened to? And how many other people is (this) going to happen to where they’re going to get this diagnosis, and they just want some answers?” she said.

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George and her husband decided that they would be that answer, by creating the SPATA Foundation. They currently have around 100 patient families that they help worldwide.

“There’s a lot of funding out there for medical research,” said George. “But unfortunately, not for rare diseases.”

“Government funding or institutional funding, they don’t want to fund something that’s only going to help 100 people,” she said. “They want to fund something that’s going to help thousands of people.”

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George said that means parents will often have to advocate and fundraise for that research themselves.

“There are over 300-million people living with rare diseases, so rare diseases are actually more common than you would think,” she said.

The Barra family said that linking up with others with the same condition has helped them predict what will happen for Brooklyn. They know she will need one-on-one care, but other than that, they aren’t sure what other limitations she will have.

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“We don’t know what’s going to happen to Brooklyn 10, 15, 20 years down the road,” Michael shared. “Seeing and connecting with other families that have older children gives us a little bit of insight into what could come in the future for her.”

The family said it’s been a balancing act trying to navigate all of Brooklyn’s needs, but for her, they said it’s worth it.

“Every time I look at Brooklyn and she smiles, I know it’s meant to be,” Michael said.

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