White City parents raise over $5,000 for daughter with rare diagnosis

Evie Muir, 7, was recently diagnosed with Rett syndrome, a rare genetic condition. Her parents raised over $5,000 for research into the syndrome. Photo courtesy Amanda Marcotte.

They say a parent’s love knows no bounds. White City mother Amanda Marcotte, along with her husband Andrew Muir raised $5,000 in two days through a Facebook fundraiser, after their seven year old daughter Evie was recently diagnosed with Rett’s syndrome.

“Normally girls with Rett syndrome you’ll know fairly early on that there’s an issue,” said Marcotte. “They have difficulty to grow . . . lose the ability to walk and talk and that didn’t happen to Evie.”

It is because of Marcotte’s experience with Rett’s syndrome that she created the fundraiser, which donates the funds to the Rett Syndrome Research Trust in Evie’s name to work toward treatments and hopefully a cure to the condition.

According to Rettsyndrome.org, the condition is primarily found in females and affects nearly one in every 10,000 female births worldwide. Caused by a rare genetic mutation, it can cause problems for cognitive, sensory, and motor functions. The syndrome is often misdiagnosed as autism or cerebral palsy.

Marcotte says this is why Evie was only recently diagnosed, as she is considered to be A-typical, a more high functioning form of Rett syndrome.

“Rett syndrome impacts a lot of aspects of our lives. We are still loving, we are still laughing, and still living” said Marcotte as Evie laughed in the background. “But it has changed our lives. . . Evie needs a lot of extra therapy and a lot of extra attention,” Marcotte said, adding “but like other children Evie is a happy, funny little person who is just a treasure to us.”

Marcotte says Evie underwent a DNA test to determine her diagnosis after she and her husband felt there was something more to their daughter’s supposed autism diagnosis. Evie does have difficulty with communication and physically tires easily due to low muscle tone. With her recent diagnosis, Marcotte says Evie will have medical concerns that they do not yet fully understand the extent of.

“A lot of Saskatchewan, prairie, and Canadian people are the most charitable people you will meet,” said Marcotte, adding “It feels like a whole bunch of hugs came in over Facebook.” As of Nov. 19, 2018 the fundraiser has surpassed its goal of $5,000 in just 72 hours. Recent tests through Harvard have cause for optimism for those with Rett’s syndrome, as human trial tests are expected to begin in 2019.  Further donations to the fundraiser can be made to “Amanda’s fundraiser for Rett Syndrome Research Trust” Facebook page.

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