Spinal Muscular Atrophy Awareness Month
Today, patients and families look to the future with renewed optimism
Since Lindsay began treatment for her SMA two years ago, she and her husband, Matthew Stevens, are looking to the future with more optimism. supplied
Turning the tide on SMA
Acting on an early diagnosis is essential
For most of her life, Lindsay Perry had no choice but to cope with a constant loss of abilities – the ability to walk, to lift, to grip, and even to talk for long periods. Each time her muscle strength diminished, she would adapt and then be forced to re-adapt as she inevitably lost more and more mobility, repeating the cycle all over again.
Over the past two years, however, “adapting” has taken on a far more positive meaning.
Today, the 34-year-old resident of Saint John, New Brunswick, and her husband, Matthew Stevens, are growing accustomed to progress. Since beginning treatment for her spinal muscular atrophy (SMA), Lindsay has gained stamina and the ability to move in small but significant ways that had been lost to her for years. The result is a better quality of life and a belief that planning for the future is now possible.
“I had only experienced physical decline my whole life. I was always adapting to losing abilities, which became harder as the losses became bigger,” says Lindsay. “I always feared what the future might hold. I still don’t know what lies ahead, but it’s certainly a positive shift to be thinking about things getting better. Even the possibility of slowing down SMA’s progression changes the whole trajectory of my future.”
“I walk this journey together with my SMA patients and see how their lives can change with treatment. I tell my patients, ‘You have nothing more to lose, but you have everything to maintain.‘
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SMA is a progressive and life-altering disease
Lindsay was 18 months old when she was diagnosed with SMA, a rare, genetic and progressive neuromuscular disease that has irreversible, life-altering impacts on a broad range of patients, including infants, children and adults.
People with SMA do not produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor neurons that support sitting, walking and basic functions of life like breathing and swallowing. While there are different types of SMA with varying symptoms and levels of severity, all SMA is progressive and ultimately destroys essential muscles.
Over the years, Lindsay’s muscle weakness and motor function impairment progressively increased. Today, her mobility comes from a power wheelchair. Only decades after her diagnosis are significant advancements being made in the management of SMA, with three treatments now approved in Canada.
Patients like Lindsay understand how gains – big and small – are meaningful and contribute to their quality of life and outlook for the future. After beginning treatment two years ago, Lindsay started to see small but meaningful improvements that pointed her to a more independent future. Her hands are stronger than before, and for the first time in years she’s been able to hold a cup and write for longer periods with a pen.
“I feel like I have more stamina in general, so I am able to do day-to-day activities with less fatigue,” Lindsay says. “It also allows me to spend more time doing things I enjoy, like gaming.”
Lindsay and Matthew are now looking ahead with greater optimism – this year they are toasting their 10th anniversary, planning a trip to Hawaii next year and making goals for home improvements. “I finally feel empowered and free to focus on my hopes and aspirations just like everyone else,” she says.
Nothing more to lose, everything to maintain
“I walk this journey together with my SMA patients and see how their lives can change with treatment,” says Dr. Tamer Rizk, a paediatric neurologist based in Saint John who also treats adults, including Lindsay. “I tell my patients, ‘You have nothing more to lose, but you have everything to maintain.’ If you lose a muscle, it’s so hard to get it back. If you can’t use it, you lose it.”
Dr. Rizk defines success for his SMA patients as the prevention of further losses in strength, stamina and ability. He explains how for Lindsay and other adults, they’ve achieved success when they’ve maintained and preserved their function, without feeling weaker year over year as, for example, Lindsay did before.
“If you maintain function over five years for example, this is a great success,” says Dr. Rizk. “While everyone is different, most patients are also seeing improvements. Lindsay’s respiratory function is doing better, and she has more strength in her hands and upper limbs. For her, these steps represent a light at the end of the tunnel.”
Preventing disease progression
Medical experts like Dr. Rizk are stressing how critical it is to diagnose and treat SMA as early as possible to control the disease and help patients preserve their abilities and make important gains in function and stamina. “Early diagnosis means early treatment, and that means the hope of changing lives,” says Dr. Rizk. “When children receive treatment, that strengthens and supports their nerves and muscles, for example, they can often reach important developmental milestones.”
Another one of Dr. Rizk’s patients is eight-year-old Dominic Melanson, who lives in Dieppe, New Brunswick. At a very young age, his family could see his ability to walk was not developing, and a genetic test at 18 months of age confirmed an SMA diagnosis. According to his father, Mathieu Melanson, Dominic’s condition then took a rapid decline.
“As a toddler, Dominic grew weaker and would often fall when he tried to stand, and he gradually just stopped trying. When he tried sitting, he was unstable, and we had to prop him up with cushions so he wouldn’t fall and injure himself,” says Mathieu.
Dominic’s family learned more about their son’s prognosis with SMA and worried about his future. They became aware of a clinical trial and enrolled Dominic at age two. Mathieu says the six years that followed changed the course of their lives.
“He’s retained strength in his core muscles and upper body, and today he can propel himself in his manual wheelchair,” Mathieu says. “As long as Dominic maintains the abilities he has now, we consider that a success. If he had experienced any further loss, our family’s lifestyle today and his future would look completely different.”
Dominic will be entering grade 3 in the fall and looks forward to taking part in many of the same activities that typical eight-year-olds enjoy. “He’s got a pretty good throw when playing ball with his friends, plays with Lego and we can modify his wheelchair so he can play soccer,” says Mathieu. “Dominic is a regular little boy – he just lives life a little bit differently from other kids.”
The development of treatments for SMA has been transformational and holds the promise to help many patients and families who live with the life-altering disease. “I believe any patient who can benefit from medication deserves it,” says Dr. Rizk. He cautions, however, that there are no guarantees when dealing with neurological receptors and believes patients shouldn’t make unnecessary changes when doing well on a specific treatment, with no side-effects or loss in mobility. “Patients need to have realistic goals. It is most important not to lose more function. And with time, you can also regain.”
Left: Dominic Melanson and his father, Mathieu Melanson; Right: Dominic enjoying some of his favourite activities. “Dominic is a regular little boy – he just lives life a little bit differently from other kids,” says his father. supplied
To learn more about SMA and therapeutics to treat it, visit: https://www.biogen.ca/