Having a sense of belonging is a basic human need - the desire for human connection and community is a defining characteristic of mankind. This can sometimes feel unattainable for people living with a rare disease who are often misunderstood by their family, friends, and others who have not heard of their condition. They can experience disease symptoms that limit their ability to connect with others, making them feel more isolated.
People living with a rare neurological condition like spinal muscular atrophy (SMA) can experience these limitations and find the world a challenging place to navigate. It’s a condition that, historically, has been one of the most complex to understand and treat, and one that has not seen any major scientific advances until recently. SMA is a progressive neuromuscular condition that affects the nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking (Cure SMA, Treat-NMD Neuromuscular Network). It affects approximately one in 6,000 babies born, and about one in 40 people are genetic carriers (Cure SMA).
SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of SMN protein. This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function correctly, leading to muscle weakness over time (Cure SMA). There are four types of the SMA - 1, 2, 3, and 4, based on key motor function milestones. Type 1 is the most severe form, while type 4 is the least severe. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat, or breathe can be significantly diminished or lost (Anderton RS, Mastaglia FL).
There are many challenges for people living with and affected by SMA, and the need for more online community spaces has never been so important. In partnership with several Canadian contributors and a handful of US contributors, Roche Canada has launched the SMA My Way platform. SMA My Way is a community support tool for all those living with and affected by SMA to share their stories and empower one another. Having a dedicated space for sharing personal experiences is especially important for the SMA community as it provides the opportunity to learn from each other on how to live life beyond the limitations of the condition.
For Ben, one of the contributors who is a student from Waterdown, Ontario, Canada that means finding ways to participate in his favourite activities and sports.
“There’s sort of a stigma around people with disabilities that they can’t be involved with sports. But that’s simply not true… I think that from all of [my] experiences we can glean a positive mindset that even though I might not have the same physical ability that doesn’t mean that sports can’t mean something to me” [Pulled from one of his testimonial videos]
Ben’s experience with finding ways to participate in sports is just one of many ways the contributors share navigating life with SMA. Patients and caregivers share their stories with honesty, humour and strength across a wide variety of topics: accessibility, adulting, relationships, hobbies, parenting, and everyday life. They demonstrate the rewards of finding ways to celebrate their individuality and life with SMA - their way.
The SMA My Way platform is a true representation of the experiences of those living with and impacted by SMA, and would not be possible without the candid sharing by all its contributors who have helped bring this community to life.
One of the website contributors, Karli, from Edmonton, Alberta, Canada shares how the real stories that make up SMA My Way are vital to accurately representing the rare disease community.
“Authentic representation is hard to come by, especially for those of us living with rare conditions like SMA,” she says. “This website gives us a unique opportunity to remedy that through our real-life stories. It highlights our individuality and diverse interests, while still acknowledging our similarities and aligned needs. I’m thrilled to be involved with such an impactful initiative.”
Roche has a long-standing history of transforming the lives of people with rare conditions. Our aim is to ensure that people living with fatal or life-limiting rare conditions can benefit from our discoveries, to live the most fulfilling lives possible. An important part of that work is our commitment to collaborating with patient communities to find ways to help people live their best lives beyond their disease through initiatives like SMA My Way.
Visit SMAMyWay.ca to meet the contributors, read their stories, and connect with the community.