AT awareness: Maritime family sheds light on rare condition

A Maritime family sheds light on a rare condition during AT Awareness Month.

A Maritime family is sharing their story during AT Awareness Month.

Their daughter, 12-year-old Olivia Demone, has one of the few known cases of Ataxia-Telangiectasia (AT) in Canada. AT is a rare genetic condition that affects the function of the nervous system, the immune system and several other body systems.

“In 2018 she was diagnosed with Ataxia-Telangiectasia, which is a rare genetic disease. AT affects your muscles, your balance, and your immune system,” said Amy Demone, Olivia’s mother.

Olivia is one in 50 known diagnosed cases in Canada and one in fewer than 500 cases in the United States, says Amy.

“August is AT Awareness Month, so all AT parents share a lot of information about it and support each other and let people know that this does exist even though it’s really rare.”

Amy said Olivia started showing signs of the condition when she was very young.

“Back when she was in preschool, she started showing signs of being really off balance and you kind of think that is your typical kid, but it was more severe for her. So that prompted us to go get her checked to see what was going on with her.”

“It was devastating news,” said Scott Demone, Olivia’s father. “We never even heard of it. Getting classified as a rare disease we immediately were looking up information about it. Heartache, helplessness, what do you do?”

“Olivia is a smart, beautiful girl who wants to do everything independently. She is wonderful and everybody loves her. Her smile is contagious,” said Amy.

“My biggest hope is for a treatment that will help ease the symptoms and, of course, a cure. That is the most important thing.”

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