Port aux Basques mom vows to make every moment count for daughter with fatal disease

The mother of a Port aux Basques girl who's been diagnosed with a fatal disorder says she's doing everything she can to give her daughter as normal a life as possible.

"Every day when I get up, it's 'what are we going to do today', because every moment counts." said Brittany Gaudet,

Her four-year-old daughter, Ava Gaudet, has Batten disease, a neurological degenerative disorder that leads to progressive deterioration of motor skills, vision and the ability to walk and talk. Children diagnosed with it have a life expectancy of no more than 12 years, and there's no known cure.

"For right now she's still walking, she's still talking, she's still eating on her own, she can still see everything. Eventually, those things may not be there," said Gaudet.

Numbing diagnosis

The family found out about the diagnosis earlier this summer, by phone, while Gaudet was at a birthday party with Ava and her younger daughter, Cali, who is almost two.

Gaudet said she stepped out onto the porch to take the call from a geneticist in St. John's.

"She had asked me if I would like to come to St. John's to hear Ava's results and, when someone asks you to drive nine hours for results, you know they're not good, and in that moment, it was numb. Everything seemed to be a blur," she recalled.

As the geneticist calmly explained the test results, Gaudet had the sinking feeling she already knew what the diagnosis was, having already researched some of the possibilities.

"I asked her, 'she has Batten disease, doesn't she?' And she said 'yes.'"

'Enjoy everything'

Gaudet was determined to ensure her young family would live life to its fullest for as long as they can.

"I don't remember anything but thinking, all right, now we live every moment like it means something. Because we were at a birthday party and we didn't leave, because my kids were enjoying it and this birthday party was one of many that Ava needs to go to, to enjoy everything."

Nothing is more important to us than keeping our girls happy.- Brittany Gaudet

She and her husband don't talk about the diagnosis around their daughters.

"All Ava needs to worry about is playing with her little sister, eating her meals, and enjoying the day. I'm not going to ever tell her that she has something, to make her panic, to make her feel like she's different. I refuse," she said.

No cure

The first signs of Ava's disease were subtle: speech difficulties at the age of two, a time when many children can face such challenges. But when she had a seizure in July 2015, the family felt there might be something more, leading to the diagnosis that has sparked an emotional rollercoaster.

"It's pretty horrible to watch your child get all these skills and then you have to watch them lose them slowly," said Gaudet.

For now, Ava is on medication to prevent further seizures. She can be treated for other symptoms of Batten disease, but there is no cure.

The Gaudets are investigating the possibility of Ava being part of experimental treatment in the United States, but that that would only slow the progression of Batten disease.

"It won't cure it, but it could alter it, and give her more years of good quality of life and then, by that time, maybe they will have a cure," Gaudet said.

And there's an added stress about what the future holds. Brittany Gaudet is 17-weeks pregnant with her third child, and there's a 25 per cent chance her unborn baby and her toddler could have the same disease as Ava.

"It's pretty scary to think because it's genetic, so you're playing Russian roulette with your kids really."

Making memories

Now, the family is trying to live in the moment, with trips to the beach on sunny days and, on cloudy days, watching movies and colouring. A trip to see relatives in Nova Scotia is also planned.

The Children's Wish Foundation will give the family some more special moments together later this month, with a visit to Walt Disney World, to meet the characters from Ava's favourite movies.

"Whatever we can do to keep her busy and to keep her happy, and Cali happy as well, we're doing it. It doesn't matter, the sky's the limit for us right now, because nothing is more important to us than keeping our girls happy."