5 minute read
with sma newborn screening in place, care partners step up to meet evolving community needs
real-time data and insights show promise in advancing care for people living with sma
freya (seen here with her mother, taylor) was one of the first babies diagnosed via alberta’s sma newborn screening program. supplied
this story is sponsored by
novartis pharmaceuticals canada inc
this story was created by content works, postmedia’s commercial content division, on behalf of a client.
when caregivers contact muscular dystrophy canada (mdc) following a child’s diagnosis with a neuromuscular disorder like spinal muscular atrophy (sma), there’s no one-size-fits-all approach to providing support.
“we take an individualized approach with each family because we know that there are a lot of factors that can influence decisions, whether it be the province you reside in, your health-care team or your family circumstances,” says homira osman, mdc’s vice president of research and public policy.
each year, approximately one in 13,000 babies is born with sma, a rare genetic disease that causes progressive muscle weakness over time. sma is characterized by the gradual loss of motor neurons that are responsible for controlling actions such as walking, breathing and swallowing.
“in its most severe form, infants and children with sma would pass away by their second birthday,” says osman. “some infants wouldn’t be diagnosed until they ended up in the emergency room or in the intensive care unit as a result of a respiratory or cardiac complications.”
how newborn screening is changing lives
with an sma diagnosis, there’s a short window of opportunity to slow the progression of the disease, making early diagnosis imperative. in an effort to improve early access to care for infants born with sma, mdc and its partners spent the last few years advocating for sma to be added to existing newborn screening programs across canada. blood samples for newborn screening are collected up to 48 hours after birth and tested for multiple treatable diseases, all before symptoms appear.
resource centre
sponsored by
muscular dystrophy canada
advertisement
as of this year, newborn screening programs that include a test for sma have been implemented in all provinces and territories. early diagnosis is significantly improving quality of life for infants with sma, which is making community care tailored to patients in different stages of their disease journey even more important.
“families are being informed that their child has sma within the first few weeks of life,” says osman. “this early notification allows caregivers to access treatments and resources sooner, enabling more informed, evidence-based decision-making – essentially getting the right information at the right time.”
meeting the evolving needs of the sma community
while osman says there hasn’t been an influx of new families accessing mdc’s services since the implementation of newborn screening, the types of support in demand have changed.
“even before newborn screening, we were actively and robustly engaged with people with sma and their family members,” she says. “but it was more so around managing complex care needs and securing adequate resources, including funding for assistive devices that often were not available due to lengthy wait times or lack of provincial health coverage and community care resources.”
advertisement
“today, the experience is quite different for those diagnosed at birth. families are more actively seeking information, particularly around long-term data and the impact of early treatment options,” she explains. “there’s also a strong focus on peer support, with families connecting with others who have young infants and children with sma.
“providing emotional support but also helping families navigate the complexities of treatment decisions and sharing valuable insights about managing the disease is important. it’s about creating a sense of community and ensuring that families don’t feel isolated as they make critical choices for their child’s future.”
the advent of newborn screening programs in canada is also changing the clinical presentation of sma, says osman.
“now that individuals are being diagnosed and treated earlier, it’s presenting closer to a milder form of sma,” explains osman. “infants and children are meeting motor milestones, such as walking and running, which we didn’t see as frequently before.”
homira osman, mdc’s vice president of research and public policy. supplied
introducing smartrack and real-time needs assessment
with patients and their families receiving diagnoses earlier, the needs of those in the sma community are evolving. to better meet those needs, novartis and other partners continue to support mdc in their sma initiatives, such as smartrack, a new national database that tracks children with sma identified through newborn screening.
advertisement
osman says smartrack was created to address the gaps in data collection within provincial health-care settings. as each province tracks this information differently, osman says smartrack is filling the void by collecting data and acting as a “real-time needs assessment” to ensure families receive the vital supports they need.
smartrack documents the time it takes for the infant or child to receive treatments for sma and other wraparound supports from clinics, neurologists, and other care and support providers. through the new initiative, mdc offers ongoing support to families by providing quarterly check-ins for the first two years of the child’s life.
“smartrack gives families the opportunity to look at life after a positive screening more holistically by asking questions about how they are coping and adjusting, questions about the future, about treatment, and about the things they’re stuck on,” she says.
osman says this data helps identify common themes, questions and support requests to guide mdc in developing new services and programs that loop in health-care providers, clinical care partners and industry partners.
“for instance, perhaps a parent is saying that their child is meeting motor milestones, but they need a specific type of crib to support head control,” says osman. “we have funding for assistive devices and technologies that we can coordinate access to. or, if we hear parents are interested in a clinical trial for their infant or child, we can then introduce them to the clinic coordinator.”
advertisement
early diagnosis means that people living with sma are able to get the support and care they need to participate in activities such as sports and school, and ultimately, enjoy a better quality of life.
“the wide-scale implementation of newborn screening for sma across canada was a significant step forward that gives families the chance to learn about their baby’s diagnosis and access essential information and services sooner,” says mark vineis, country president, novartis pharmaceuticals canada inc. “mdc’s ongoing efforts to gain a deeper understanding of current patient experiences will provide valuable insights that will be pivotal in improving long-term outcomes for individuals with sma.”
if your child has been recently diagnosed or is living with sma, talk to your doctor and reach out to mdc for support and resources. visit muscle.ca for more information.
fa-11329680 e
this story was created by healthing content works, healthing.ca’s commercial content division, on behalf of novartis pharmaceuticals canada inc.
share story
