holding on to 'joie de vivre' while facing a difficult diagnosis
ongoing research into rare degenerative disease is giving patients new reasons for hope
5 minute read
“what i’ve always wished for is to be there to share life’s next chapters with my daughter and, maybe one day, see my grandchildren,” says jessica laneuville (left), who lives with friedreich ataxia. john kenney
this story is sponsored by
biogen canada inc.
this story was created by content works, postmedia’s commercial content division, on behalf of a client.
by the time jessica laneuville was 12, she was frequently losing her balance while riding her bike and kept stumbling on skates and rollerblades. she also had poor fine motor skills but laughed off her clumsiness by joking that she was just “all thumbs.”
as her balance problems worsened, laneuville was diagnosed with short achilles tendons and started physiotherapy, which helped, but only temporarily. however, the bécancour teen’s symptoms became more severe. her world was slowly shifting in ways she couldn’t ignore. “i kept losing my balance — and not just on my bike,” she says. “i would take 10 to 15 steps and need to put my hand on the wall.”
after high school, laneuville attended college where she began to notice how tired and sore her hand would become while taking notes.
after a decade of escalating symptoms, laneuville was finally referred to a neurologist who quickly diagnosed her. “he had never seen me before, but as i walked in, he said, ‘there is a 90 per cent chance it’s friedreich ataxia,’” laneuville recalls. “as i’m a very positive person, i replied, ‘so, there’s a 10 per cent chance it’s not!’” even in that moment she leaned on optimism.
unfortunately, the neurologist’s instincts were correct. laneuville was living with a rare neurodegenerative disease for which there is no cure.
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facing the incurable, one day at a time
friedreich ataxia (fa) is a rare, inherited, progressive neurological disease that causes damage to the spinal cord and peripheral nerves, leading to difficulties with balance, coordination, speech, and may also increase the risk of heart problems and diabetes.
in canada, it’s estimated that between 300 and 750 people are living with the disease. a significant number are in quebec and the acadian regions of the maritimes, largely because of the so-called ‘founder’s effect’ — a phenomenon where early settler populations pass down certain genetic traits more frequently through generations of relative isolation.
laneuville’s case is typical in that fa often appears in childhood or adolescence, starting with poor balance and coordination.
“problems with walking and steadiness are often what bring a patient to see a physician,” says dr. antoine duquette, a montreal neurologist with a specific focus on rare diseases, including hereditary ataxias.
as the disease progresses, other symptoms may develop, including slurred speech, muscle weakness and issues with hand and arm coordination. “most patients eventually will require the use of a wheelchair over the course of the disease,” says dr. duquette.
dr. antoine duquette, a neurologist in the department of medicine at the chum in montreal. supplied
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the outlook for individuals living with fa is sobering, with recent studies putting the average life expectancy at just 37.5 years.
dreams of a big family shattered
when laneuville received her diagnosis at 22, her immediate concern was whether she would be able to have children. the prospect of a shortened lifespan associated with fa made her dream of becoming a parent feel all the more urgent.
“i dreamed of having four kids in my life,” she says. “so, my first question to the doctor was whether i could have kids at all, and he said, ‘of course!’” after being tested to confirm her partner wasn’t a carrier for fa, they started a family right away, and in 2008, she gave birth to a healthy baby girl.
as her baby grew into an active toddler, and her fa symptoms had steadily worsened, she was feeling exhausted. “it was very hard. i didn’t have enough energy for both my family and my job,” she says. “i chose to be a stay-at-home mom because my daughter needed me.” looking back, she recalls it one of the best decisions of her life: being there for every milestone, every moment in kélyane’s life.
now 41, laneuville hopes moments with her daughter will continue for many more years. although, over time, her mobility challenges have meant moving from a walker to a wheelchair, laneuville remains fiercely determined to beat the odds.
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“my reality is that every day that goes by brings changes. even though i try to see the positive in everything, there’s something else to grieve, something else i can no longer do,” laneuville says. “i choose not to dwell in what i can’t do because my daughter is watching my every move and that keeps me moving forward.”
“what i’ve always wished for is to be there to share life’s next chapters with my daughter and, maybe one day, see my grandchildren,” she says with a warm smile.
jessica considers being a stay-at-home mom to kélyane to be one of the best decisions of her life. john kenney
scientific progress sparks hope
fuelling laneuville’s dream for a future that includes being a grandparent are recent advances in research targeting fa. while there remains no cure for the disease, ongoing research is driving the development of therapies that target symptoms and aim to slow progression.
“to start treating someone as early as possible, the disease itself must be recognized early,” says dr. duquette. he acknowledges this can be challenging, as early symptoms of poor balance and awkwardness when running or riding a bike can be so easily dismissed. “this requires parents, gps, phys-ed teachers and physiotherapists to play a role in recognizing when kids have problems with walking, balance or coordination.”
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dr. duquette explains that slowing disease progression can have a profound impact on people living with fa. “not having to use a wheelchair until the age of 30 rather than at 20, for example, makes a huge difference,” he says. “the ability to transfer from your bed to a wheelchair, or to feed yourself — retaining these capabilities for 10, five or even three years amounts to huge achievements in disease management.”
for laneuville, these achievements translate into hope. “if i could improve my muscle tone, my ability to stand — even just enough so i can move out of my wheelchair to use the bathroom, for example — that would be amazing.”
today, laneuville focuses on celebrating the small wins. she has discovered adaptive climbing — in which specialized equipment and strategies can help those with physical barriers take part in the sport — and loves it so much that she’s now in her third season.
“i want to continue to grow as a person, to try new things, new activities,” she says. “there are so many that i can’t do, but it’s okay. there are plenty of beautiful moments still to come. what i want most is to keep my smile, my joie de vivre.”
learn more about fa so you can recognize the signs early. for more information about fa or to get support, visit ataxia canada.
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this story was created by healthing content works, healthing.ca’s commercial content division, on behalf of biogen canada inc.
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