Spinal Muscular Atrophy | Dr. Ali Ghahary

Understanding Spinal Muscular Atrophy

Spinal Muscular Atrophy is an autosomal recessive disease. This means that a child must inherit two copies of the defective gene, one from each parent, to have the condition. The responsible gene, Survival Motor Neuron 1 (SMN1), is instrumental in maintaining motor neurons. The absence or mutation of this gene results in the gradual degeneration of the nerves controlling muscles used for activities such as crawling, walking, sitting up, and controlling head movement.

SMA is categorized into four types (SMA I, II, III, IV) based on the age of onset and severity of symptoms. The most severe type, SMA I, also known as Werdnig-Hoffmann disease, usually presents within the first months of life and is often fatal in early childhood. On the other end of the spectrum, SMA IV begins in adulthood and progresses slowly, allowing for a normal lifespan despite reduced mobility.

SMA in Canada: The Need for Awareness

In Canada, it is estimated that 1 in 6,000 babies is born with SMA. However, as many as 1 in 40 people could be carriers of the faulty gene without showing symptoms. This high incidence rate underpins the need for increased awareness and understanding of the disorder.

This is where the Spinal Muscular Atrophy Awareness Month comes in. Every August, families, patient advocacy organizations, researchers, and health professionals across Canada come together to raise awareness about SMA. Through various initiatives, they aim to educate the public, support affected families, and fundraise for research and treatments.

Fostering Education and Understanding

SMA Awareness Month is about fostering education and understanding about this condition. Many Canadians are unaware of the existence of SMA until it affects someone they know. Educational initiatives provide information about the genetic basis of SMA, its symptoms, types, diagnosis, and treatment options. This knowledge can aid early diagnosis and encourage individuals to pursue genetic counselling if SMA is prevalent in their families.

Further, SMA Awareness Month also helps dispel many misconceptions about the disorder. It highlights the fact that people with SMA, like any other individuals with disabilities, lead meaningful lives, and are integral members of our society. By challenging societal misconceptions, these efforts work towards the creation of a more inclusive environment.

Supporting Affected Families

SMA Awareness Month also plays a pivotal role in providing support for affected families. Being diagnosed with SMA, either as a patient or a carrier, can be overwhelming. Families often grapple with feelings of shock, confusion, and uncertainty about the future.

During August, numerous support initiatives are organized across the country. These range from support group meetings to interactive workshops, and counselling services. The aim is to provide emotional support, practical advice, and coping strategies for families dealing with the impact of SMA. Also, they offer a platform for individuals affected by SMA to share their experiences and find solace in the fact that they are not alone.

Advocacy and Fundraising for Research and Treatments

SMA Awareness Month also serves as a platform for advocacy. Advocacy groups use this time to push for policies that promote the welfare of people with SMA. These include calls for more comprehensive genetic screening programs, greater investment in research, and better accessibility to treatments and support services.

In the realm of scientific research, notable advancements have been made in recent years. In 2016, the U.S. Food and Drug Administration approved the first drug for SMA, Nusinersen (marketed as Spinraza). In 2019, a gene therapy, Zolgensma, was approved. Both treatments have been shown to improve muscle function and survival in people with SMA, marking a significant milestone.

Yet, these treatments are expensive, and accessibility remains a challenge. Fundraising activities during SMA Awareness Month contribute to supporting research and ensuring that those living with SMA can access these life-altering treatments.

Celebrating Spinal Muscular Atrophy Awareness Month

So, how is Spinal Muscular Atrophy Awareness Month celebrated in Canada? Events and activities vary across the country, but they all carry a common thread – a commitment to standing in solidarity with those affected by SMA.

Many cities organize walks, runs, or bike rides to raise funds and awareness. In addition, there are educational seminars, workshops, and webinars, where experts discuss the latest research developments and therapeutic options. Various venues are lit up in purple – the colour symbolizing SMA – to show support and raise public awareness. Stories of those living with SMA are also shared, putting a human face to the condition. These narratives not only build empathy but also offer hope and encouragement to other affected individuals and families.

Online campaigns, especially on social media, play a significant role in spreading awareness. Using hashtags such as #SMAAwareness and #CureSMA, participants share posts, photos, and infographics to educate their networks about the disorder.

Spinal Muscular Atrophy is a devastating disease, but with education, support, and research, there is hope. The Spinal Muscular Atrophy Awareness Month of August in Canada is not just about understanding the disease – it’s about acknowledging the strength and resilience of those affected by SMA. It’s about making sure that individuals with SMA, and their families, feel seen, heard, and supported. The month offers an opportunity for every Canadian to play a part – by educating oneself, participating in an event, or even sharing a social media post. With each passing year, the aim is to make the conversation around SMA louder, the support network stronger, and the hope for a cure, brighter.