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a grandfather embarks on emotional cross-canada journey to raise awareness for spinal muscular atrophy

when bernard mcneil found out his grandson had been diagnosed with the most severe form of spinal muscular atrophy (sma), he couldn't stop crying. now, he and his family have turned terror into courage, playing critical roles in research and raising awareness.

by karen hawthorne

aug 8 2023

7 minute read

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spinal muscular atrophy: a grandfather's mission to raise awareness

sixty-six-year-old granddad, bernard mcneil, centre, cycled across canada from vancouver to montreal to raise awareness for spinal muscular atrophy. he is pictured here with his grandsons noah, left, and malik trépanier. supplied

what do you do when your grandson is born with a rare and devastating disease?

after the shock and tears from learning his grandson, malik, had been diagnosed with the most severe form of spinal muscular atrophy (sma) — a neuromuscular disease that causes progressive loss of muscle and function — bernard mcneil sprang into action.

he started with spaghetti dinner fundraisers and has helped his daughter, claudia, and her family buy a house that could be modified with an elevator for little malik, as well as assistive devices required for breathing, feeding and mobility. now, the 66-year-old granddad from montreal has cycled across canada from vancouver to montreal, completing the trek on aug. 5 after 63 days on the road.

because the only way forward, he says, is to stay positive and get going.

“malik deserves a good life. i want to be there for him and the family,” mcneil explains.

bernard mcneil’s journey for spinal muscular atrophy (sma) awareness

an avid cyclist, skier and former triathlete, mcneil thrives on challenge and partnered with the national charity cure sma canada to launch his tour de sma .

“it’s not only for my family, it’s for the sma community and everyone who needs access to medication.” mcneil said, highlighting that it’s been an emotional journey in many ways.

“i remember when malik was about two months old and he couldn’t react like a regular baby with a strong core and a strong neck. he couldn’t turn from his back to his belly,” mcneil recalls. “then he was so sick with pneumonia. they were doing some tests and my daughter was asking me often, ‘dad, what do you think he has?’ i wanted to reassure her, but i didn’t know what to answer.”

when the family learned of the diagnosis after consultations with neurologists, it was a heavy blow. “at that time, there was no treatment available. i felt like i’d been hit by a big sledgehammer. i couldn’t stop crying.”

understanding spinal muscular atrophy: causes and symptoms

the disease is a genetic one, passed on from unsuspecting parents. an estimated one in 6,000 babies born in canada are affected and about one in 40 people are genetic carriers, according to cure sma canada.

spinal muscular atrophy is caused by a mutation in the survival motor neuron gene. in someone who is healthy, this gene produces a protein known as survival motor neuron protein, or smn protein, that allows nerves to control our muscles. without this protein, nerve cells eventually die, leading to debilitating and sometimes fatal muscle weakness.

although intellectual activity isn’t impaired, the motor neurons fail to send adequate signals to muscles throughout the body, including the ones used for walking, head and neck control, swallowing and breathing. the impact on respiratory muscles also puts people at higher risk of pneumonia and other lung problems. tragically, it predominantly affects children.

“sma type 1 is the more severe phenotype where, without supportive care, the median age of death is about one year of age and most have passed away by two,” explains dr. maryam oskoui , director of pediatric neurology at the montreal children’s hospital and sma lead for inform rare , a patient-oriented clinical trial initiative supported by the federal canadian institutes of health research. oskoui adds there is a spectrum for sma where some develop symptoms in the first few months of life and others develop it in childhood or even as teenagers.

all patients require medication for the rest of their lives, but many of the infants she first treated are now doing well as teenagers because of advancements in treatment. oskoui credits malik, now 9 years old, and his family for playing a part in making that medication more widely available.

claudia mcneil, middle left, her father bernard mcneil, top middle, and her son malik trépanier, bottom middle, pose for a photo with former nhl defenceman p.k. subban at the montreal children’s hospital. supplied

breakthrough treatments: nusinersen and beyond

the first drug approved for sma treatment was nusinersen which, given as an injection into the spine every few months, targets the faulty gene and stops the progression of the disease. malik participated in the nusinersen clinical trial at sickkids hospital in toronto when he was four months old, a decision that saved his life.

“[malik’s family] was courageous during a time where we didn’t know if these drugs worked, if they were safe,” says oskoui.

research and development has now led to two additional disease-modifying therapies and an emphasis on other supportive interventions. oskoui is leading research into an exercise gaming home system, a similar concept to wii sports, that can help people gain muscle strength and endurance while having a lot of fun at the same time. “the study is to evaluate it, to see if it helps children progress and reach their individual goals over time,” she says.

“it’s exciting. they can have a program that helps with their chest wall and arm movements and head movements and be able to measure the outcomes. when the kid says, ‘well, i feel so much better, i have more endurance, i’m able to do more and i’m less tired at the end of the day,’ we can’t really measure that very well. so i’m hoping that with some of these technologies we can do a better job at showing that we’re making a difference and quantifying that.”

the importance of early detection: newborn screening in canada

in another step forward, newborn screening for sma in canada is now part of the routine blood work, allowing for detection and critical early treatment. that screening is something that oskoui would like to see made standard around the world.

people who show the first signs of muscle weakness after 18 months old tend to have a milder form of sma. often, they can walk independently, but will lose that ability as the disease progresses. a positive message comes in a recent 2023 study out of the university of freiburg in germany that found that long-term treatment with nusinersen improved patients’ walking distance.

“maintaining your level of function wherever that is, is for the most part, individually meaningful. so if i have use of my one index finger that i can move up and down, and that’s my lifeline and it helps me operate my wheelchair and it helps me with my communication device or whatever it is that it’s helping you do, it’s important to preserve that and not lose that,” oskoui says of effective therapies. “we have also seen even in adults who are treated not just stabilization, but some actually improve in function and gain skills.”

thankfully, for malik and his family, the nusinersen worked and he continues to go for those injections every four months.

“he has some anxiety when we go, but they give him a local anesthetic to prevent pain and gas to calm him down,” his mom claudia explains. that is only a small part of the regimen that’s followed to keep him comfortable. he’s fed by a special tube, so food is puréed, and he has multiple daily respiratory suction treatments to clear his esophagus and his nose.

malik, left, and his older brother noah. supplied

living with sma: malik’s journey to independence

gradually, he’s gained muscle strength and can do much more than the family ever thought possible. he’s going into grade 4 this september and has an educational assistant who helps him with toileting, respiratory suctioning and other support he needs. at home, he is able to take on household chores like putting clean cutlery away and folding laundry.

“he can sit for long periods of time now and he can go from sitting to lying down by himself. he can participate in transferring to his wheelchair,” claudia says, adding that he’s also performed on stage with his peers and likes the challenge of escape room experiences.

“it was really hard, the first two years … he was sick all the time and even a simple cold would have him in the hospital for up to four weeks. at the same time, we needed to look after our other son, noah, malik’s older brother. but we had a lot of support from family. my dad is amazing.”

like his grandfather, malik loves the outdoors and cycling. he has a customized tricycle that he can ride for brief stints on his street with neighbourhood kids. living with sma is his “normal” claudia says, and it’s not going to stop him from trying new things and enjoying life.

malik says he’s proud of his grandfather for cycling across the country to help people with sma. “i’m lucky to have a grandfather like him,” malik says. “he is really courageous!”

the hope is that coverage for the medication will continue to be available to malik and that others will be able to access the same level of care that mcneil has helped provide for his grandson.

as claudia puts it, “our motto is we’re the never-give-up family.”

karen hawthorne is a toronto-based writer.

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karen hawthorne

karen hawthorne worked for six years as a digital editor for the national post, contributing articles on health, business, culture and travel for affiliated newspapers across canada. she now writes from her home office in toronto as a freelancer, and takes breaks to bounce with her son on the backyard trampoline and walk bingo, her bull terrier.

a grandfather embarks on emotional cross-canada journey to raise awareness for spinal muscular atrophy

when bernard mcneil found out his grandson had been diagnosed with the most severe form of spinal muscular atrophy (sma), he couldn't stop crying. now, he and his family have turned terror into courage, playing critical roles in research and raising awareness.

bernard mcneil’s journey for spinal muscular atrophy (sma) awareness

what it feels like: travelling the world with spinal muscular atrophy

new video game cloud bazaar aims to make physical therapy fun for kids

understanding spinal muscular atrophy: causes and symptoms

breakthrough treatments: nusinersen and beyond

the importance of early detection: newborn screening in canada

living with sma: malik’s journey to independence

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a grandfather embarks on emotional cross-canada journey to raise awareness for spinal muscular atrophy

when bernard mcneil found out his grandson had been diagnosed with the most severe form of spinal muscular atrophy (sma), he couldn't stop crying. now, he and his family have turned terror into courage, playing critical roles in research and raising awareness.

bernard mcneil’s journey for spinal muscular atrophy (sma) awareness

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