What Is SMA?

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy (SMA) is a rare and aggressive genetic disease that attacks the very foundation of life: movement. It systematically destroys the motor neurons in the spinal cord, robbing infants of the ability to crawl, sit, swallow, and eventually, breathe. Historically, SMA was the leading genetic cause of infant mortality. It was a diagnosis that felt like a closed door, often claiming lives before a child could reach their first birthday.

In the world of SMA, time is the only currency that matters. The trajectory of this disease is decided in the earliest days of life. Every day a child goes undiagnosed is a day that irreversible damage occurs. However, we are currently living through a medical revolution. SMA has moved from a condition of "no hope" to one of "limitless opportunity."

SMA can affect any race or gender.

In order for a child to be born with Spinal Muscular Atrophy, both parents must be a carrier of SMA.
When both parents are a carrier their child has a 1 in 4 chance of being born affected by SMA

Type of SMA

Modern medical intervention has fundamentally shifted the narrative. We are moving away from the old "Type System" (Types 1-4) that once predicted a child's lifespan and limitations. Today, a child's future is no longer determined by their diagnosis, but by the speed of their detection and the immediacy of their treatment. When we intervene early, we aren't just treating a disease, we are rewriting a life story.

Treatments

There are currently three FDA-approved treatments in the United States including Spinraza, Zolgensma and Risdiplam, but only one Health Canada-approved treatment, Spinraza, for those under the age of 12. The SMA community and Love For Lewiston are advocating to have the other two treatments available to Canadian citizens as well. 

Individuals with SMA have difficulty performing the basic functions of life, like toileting, eating, drinking, speaking, breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others. In fact, individuals with SMA are often seen as having high intelligence and problem-solving abilities. 

For more information check out www.curesma.org