How an SMA diagnosis resolved years of unanswered questions

"Severity of disease can vary significantly across different ages and progresses over time. In some young patients, it often presents shortly after they are born, struggling to move, breathe and feed. Others develop relatively normally but then start to have trouble walking around the ages of six or seven³", says Maha Radhakrishnan, M.D., Chief Medical Officer at Biogen. "Some can have normal childhoods, participating in sports, for example, and only start noticing subtle loss in their ability to do things in their late teens, 20s, or 30s, thus receiving a diagnosis later in life.³"

Maha Radhakrishnan, M.D.
Chief Medical Officer at Biogen.

Unfortunately, later diagnosis presents another challenge due to the degenerative nature of the disease. Once motor neurons are gone, the loss is irreversible. As time passes and the disease progresses, many patients need physical therapy and may lose the ability to stand or walk, requiring the use of a wheelchair.⁴ Prompt diagnosis and early intervention is critical to be able to prevent further motor neuron loss and early treatment can potentially lead to better outcomes for patients.^{5, 6}

Once Marci was diagnosed with SMA, it explained much about her medical history, dating back to her childhood. "You take a walk down memory lane," she says. "I had weak areas in my muscles, but when I was 11 years old, they didn't know what SMA was." Her doctor at the time determined that she was simply growing too fast.

In retrospect, this was just the beginning. Over the years, she'd broken her leg, arm, femur and humerus bones. "Having all these bones break was very unusual," she says. "When I fall, it's like I don't have any shocks in my legs. I can't catch myself."

The reason behind the challenges Marci faced with activities like horseback riding, skiing and tennis now became clear. "I didn't realize back then what was going on with me," she says.

The diagnosis has also helped Marci understand some less obvious aspects of her life. "I used to trip and fall a lot, but I didn't know why until I got this diagnosis," she says, recalling how that impacted her travel experiences. But she has learned to adapt.

"When I'm walking in a new city, I can sometimes miss the beautiful architecture and buildings because I'm always looking at the ground so I don't trip. Now I make sure to stop a lot, look around at my surroundings and try to appreciate them."

Thirty-six states in the U.S. now screen newborn babies for SMA, comprising 71% of all infants, and newborn screening programs are being introduced in countries around the world.⁶ Better understanding and awareness of SMA⁷ are also leading to earlier diagnosis and treatment for older patients to help preserve and potentially improve motor function. Importantly, SMA therapies introduced in recent years have forever shifted the natural history of the disease, giving the SMA community new hope.

For Marci, it’s about clarity and a path forward. "I’m the type of person that wants answers, and I felt that the journey and all of the different doctors I visited to get this answer meant that now I could press on with my life armed with this information.”