Xavier Barthe can no longer do all the things he loves. He can no longer play ice hockey, skate, or ride his bike around his Cantley neighbourhood.
From the time Barthe was an infant, his mother Émilie Lapointe noticed something wasn’t quite right with how her son moved.
“He could do everything other kids his age could do but a little more clumsily. He could walk by the time he was two. He later learned to run. By six years old he was learning to skate,” said Lapointe. However, unlike his younger sister Léanne, he could not easily run up and down the stairs.
Now 16 years old, the Cantley teenager lives with a rare degenerative disorder called leukodystrophy.
This genetic disease attacks myelin in the brain, a rubber sheath that insulates neurons. Neurons are cells that send signals from our brains to our bodies, allowing us to move our muscles and recognize physical sensations. For the brain to send signals through the body myelin is essential. Without it, an individual loses control of their senses and motor skills. This disorder generally appears in children, shortening their lifespans.
In 2013, Barthe, who was six years old, came down with a fever, which worsened his mobility, making it impossible for him to walk.
His parents brought him to the Children’s Hospital of Eastern Ontario (CHEO), where doctors ran MRI scans. They noticed something wrong with the myelin in Barthe’s brain and sent the test results to a neurological expert.
According to Lapointe, CHEO doctors promised to deliver conclusive results concerning the brain scans in the morning.
While waiting for test results at the hospital, Lapointe said she couldn’t sleep. Instead, she turned to Google for answers, nervously typing, “myelin disease” into the search engine.
“It was from this search that I learned about leukodystrophy, an incurable disorder,” she said.
In an attempt to forget her Google diagnosis, she put her phone down and pushed worse-case scenarios from her mind.
The next day, doctors confirmed Lapointe’s internet findings.
“It was an enormous shock,” she said.
Right after the diagnosis, she put on an episode of “Caillou” – a cartoon series about a four-year-old boy – for Barthe on her iPad. The 22-minute episode gave her enough time to lock herself in the hospital bathroom and muster the courage to share life-changing news with her son and family, she explained.
A life changed
“Xavier was once a little boy who could run, skate, and ride his bicycle,” said Lapointe. “Now he gets around with a wheelchair. There is also a lot of food that he can no longer eat because he does not have enough strength in his throat to swallow.”
Further, the teenager finds it difficult to speak. He also lost the ability to write and draw. But his family does their best to help him channel his artistic expression. When Barthe wants to draw, Lapointe said she takes a piece of paper and follows his directions, creating whatever images he wants to produce.
Despite an abundance of obstacles, Lapointe said her son “continues to be a happy kid. He’s rarely frustrated by his incapacities, and he’s always in good spirits.”
Lapointe said Barthe’s passions include hockey and mini-putt, and despite his limited mobility, he adapts to the games.
“He loves hockey,” she said. As his condition worsened, he was forced to trade in his regular hockey skates for double blades, which add balance and stability. “Then, he would play on his boots. Then, he would play with a walker. After that, he would play as a goalie on his knees,” said Lapointe.
“We are lucky – if I can say that – that Xavier’s condition is not worsening so quickly that we cannot adapt to each step,” she said.
Not long after Barthe was diagnosed with leukodystrophy, his parents encouraged him to participate in research that could contribute to finding cures for the disorder. Specifically, Barthe gives blood samples and undergoes cognitive tests to contribute to research led by pediatric neurologist Dr. Geneviève Bernard, who operates out of the Montreal Children’s Hospital. “One day we’ll better understand the disorder and contribute to medical research,” said Lapointe.
Lapointe said it is unlikely that her son will benefit from Dr. Bernard’s research. “But what brings us comfort is that these research efforts will help heal other children afflicted with this disorder,” she explained.
Leaning on friends, community
Damien Blais, a 14-year-old from Cantley, plans to set up a fundraising booth on Nov. 19 and 20 at the Boutique de Noël – an annual Christmas market organized by local artist’s group Art de l’Ordinaire. At his booth, Blais will ask for donations in support of leukodystrophy research. The municipality of Cantley supported Blais’ efforts by promoting the fundraiser during their Nov. 8 council meeting. At that meeting, Mayor David Gomes welcomed those who cannot attend the Christmas market to drop off cash donations at the municipality. This is the second time that Blais has organized this event. Last year, at Cantley’s Boutique de Noël, he raised $3,700 — money he donated to Dr. Bernard’s research efforts. This year, he aims to raise over $5,000. Barthe and Blais have been friends since grade two when they attended École de la Rose-des-Vents in Cantley.
“When I met Xavier, he already had a lot of symptoms,” said Blais. The two would play mini hockey – a staple game for any hockey kids that involves miniature sticks and a pair of shoes as nets. “We also played with dinosaurs. We made each other laugh a lot,” he continued.
Lapointe and her family once organized fundraisers themselves. From 2016 to 2019, they hosted three picnics and five golf tournaments. But to protect Barthe from potential COVID- 19 infection, his family slowed fundraising events.
This pushed Blais to organize his event on his friend’s behalf. Blais also organized a prize draw for those who donate during the Christmas market. Prizes include a Familiprix Cantley gift basket valued at $150 and a bike donated by Bicyclettes de Hull.
“This makes me feel useful,” said Blais about his fundraising efforts. “It makes me feel that I’m doing something good. I am happy when people donate, but I am also happy when they want to take the time to inform themselves about [Xavier’s condition].”
“It’s very touching that Damien is organizing a fundraiser for his friend,” said Barthe’s mother. “My community is incredible,” she continued. “Xavier’s condition attracted a wave of love from our family and friends.”
Blais will set up his booth at the Cantley community centre during the Boutique de Noël scheduled for Nov. 19 and 20 from 10 a.m. to 4 p.m. The centre is located at 6 Impasse des étoiles.
For those who want to make an online donation, visit: http:// bit.ly/3X15FaU. For those unable to attend the Boutique de Noël, Cantley invites donors to drop off money at the Town Hall’s front desk.