“My disease is eating my muscles.” That’s how 8-year-old Ofélie describes type 2 spinal muscular atrophy, a neurodegenerative disorder that she has been living with since she was a toddler.
In medical terms, the disorder is characterized by the fact that the motor neurons, the ones that drive muscle movement, stop sending the required information to the brain to activate muscle tissue. The tissue gradually atrophies due to a lack of protein that is normally secreted by the body.
Ofélie was less than two years old when she started going to the Marie Enfant Rehabilitation Centre at Sainte-Justine. She had already lost the ability to grasp objects to move herself around and was beginning to show signs of regression by crawling around on all fours. Her diagnosis, which had only recently been confirmed at that point, did not offer much hope to her parents that the situation would get any better.
It quickly became apparent that there was indeed no improvement in sight.
Today, Ofélie gets around on her knees and by crawling. She can walk a few steps with assistance, but she is no longer able to get into a standing position on her own.
A life-changing high-tech device
Thanks to Sainte-Justine’s donors, the Metro Fund and the generosity of the teams at Marie Enfant, Ofélie has had a mobile stander for the past two years, a state-of-the-art device the considerably improves her physical condition, her independence and her ability to socialize with her peers. The stander is designed to let Ofélie maintain a vertical position and be functionally mobile.
This means she can stretch her ankles and knees to prevent contractures. It’s also good for her digestive system since it relieves some of the pressure on her bowels. And because her bones must bear more weight than if she were not in a standing position, they will be protected against osteoporosis.
The stander also makes a world of difference with regard to her independence. It’s easy to imagine how much less frustrating it is for an eight-year-old to be able to wash her own hands at the sink, pour herself a glass of water from the refrigerator dispenser or go get what she needs to draw or do her homework without having to depend on one of her parents to help.
And in terms of her ability to interact with other children, the benefits of the mobile stander are enormous.
She can now look her friends in the eye and move around with them as if she were walking. And now that she’s in a standing position, she can experience the joy of seeing all the art in the museum.
Élaine Paquette, Ofélie's mother
Not only is Ofélie a musician and a singer, she also loves art and history, from prehistoric times to the Middle Ages. “Because after that, it’s too much like it is today,” she says. LadyBug and Cat Noir, the two French superheroes in her favourite TV show, stoke her curiosity and passion for the city of Paris, which she dreams of visiting one day.
Spreading magic and hope during the holidays
Ofélie’s daily routine consists of anywhere between one and three hours of therapy: a breathing bag to help pump oxygen into the alveoli in her lungs and keep her ribcage flexible, singing to develop her pulmonary capacity, the flute to exercise her mouth and jaw muscles, motor skills exercises, stretching, massage… all to stave off further decline in her condition for as long as possible. Somewhere in the middle of her busy schedule, Ofélie plans to enjoy as much time as she can with her family and friends this holiday season. It’s easy to imagine her snuggling up, dreaming of castles in the Loire Valley and catching up on the latest adventures of LadyBug and Cat Noir. Everyone has a superhero they admire in life. For us, Ofélie is at the top of the list.