Nicolas Schwuchow is four years old. Stella Bartlett is seven. Both have spinal muscular atrophy (SMA), a rare, progressive, and often terminal neuromuscular disorder that affects about one in six thousand children.

“Nicolas was born healthy and it wasn’t until he was about five and a half months old that we noticed he wasn’t meeting his milestones,” says Nicolas’ mother Petra. “He was diagnosed with SMA and we were devastated. It took us quite some time to wrap our heads around it.”

Stella’s story is similar. “Stella was a normal baby when she was born,” says her father Myles. “There was no real indication that there was anything different about her until she missed a couple of gross motor milestones. We noticed she was having difficulty maintaining a seated position and, though she did get up into a crawling position a couple of times, she never really tried to crawl.”

Because SMA has no effect on cognitive development, both Nicolas and Stella are bright and engaged children acutely aware of their conditions. Today, neither of them can walk, and both are far weaker than their peers. Their prognosis without treatment is a progressive wasting of their motor neurons, resulting in further loss of mobility, motor function, and eventually even the ability to breathe on their own.

Hope on the horizon

Though SMA has been known to the medical community for over a century, it was not until 1995 that the genetic basis of the disease was discovered. “It’s a unique disease genetically,” says Dr. Craig Campbell of the London Health Sciences Centre, a paediatric neurologist who is a clinical investigator in SMA clinical trials. “The condition is caused by a genetic mutation in the SMN-1 gene, but there is a partner gene, SMN-2, that is identical in almost every way except that it is not processed properly.”

The existence of this partner gene was the key that led to the development of the very first drug used to treat SMA. This drug is an antisense oligonucleotide that modifies how the SMN-2 gene is processed. Approved for use in the United States just this past December, the drug has the potential to change SMA treatment. “Prior to this treatment, we basically treated patients symptomatically,” says Dr. Campbell. “There was nothing we knew of that could even slow the progress of the disease.”

“Finally there was some way to help our child”

Families have been understandably eager to get their children started on this new treatment. Nicolas started in January and is already seeing improvement. “When this treatment became available and it was confirmed that Nicolas would be getting it, we felt overwhelming joy that finally there was some way to help our child,” says Petra. “We’ve noticed more movement, especially in his hands and arms. His voice has gotten stronger. He’s eating more.”

Because the treatment is still awaiting approval in Canada, however, families are dependent on limited channels to gain access to it. “For severe life-limiting conditions, you can get an unlicensed drug on a case-by-case basis,” says Dr. Campbell.

Unfortunately, these channels are not available to everyone. Though Nicolas was deemed eligible, Stella was not. “When we saw the announcement that this drug had been approved in the United States, there was this immediate wave of emotion and relief,” says Myles, “but it was followed very very quickly by the acknowledgement that we were going to have to wait. That was extremely hard.” 

New perspectives on rare disease

As this new treatment works its way through the approval process in Canada, others are still in the research pipeline, providing hope for a future when new families in the SMA community will feel empowered rather than helpless. “There are children being born with SMA right now,” says Myles. “What we are really aiming for is a day when they can be diagnosed and then presented with a list of options, allowing them to potentially never develop any of the symptoms that Stella lives with.”

It’s telling that Myles’ thoughts immediately turn to other families sharing the same struggle, even as his own daughter awaits access to treatment. With SMA, as with many rare diseases, there is a rich and close-knit community. “Your life changes and your community shifts immediately,” says Nicolas’ father, Rolf. “You gravitate to people who have similar experiences and are trying to figure it out day by day, just as you are. The community rallies around you and you rally around them.”

For decades, this community has been central to keeping the hope for new treatments alive, no matter how dim that hope has often seemed. With research finally beginning to turn this hope into reality, we are reconsidering the way we think about rare diseases like SMA. “We’re starting to think about patients actually being able to improve over time, whereas previously we hadn’t even been talking about stabilization,” says Dr. Campbell. “Now, when we are doing management for kids, we have to start thinking about preparing their bodies for possibly gaining milestones, rather than making decisions with the understanding that their motor function will only continue to deteriorate.”

While none of the treatments currently in development represent a cure, the results in these early days are promising, and there is optimism that the trajectory of progressive improvement will continue. For children like Nicolas and Stella, and the many others living with SMA and other rare diseases, nothing is more important than continued research and timely access to new treatments.

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