"It was one of the hardest and saddest moments in Michel Cormier's life: the moment he saw his son sitting in a wheelchair for the first time. 21-year-old Samuel himself first noticed that "something" was wrong with him at the age of 13. "Back then, I played field hockey, skateboarded and skied. But then I started stumbling over doorsteps and fell down on a meadow because I kept getting my toe caught in it. It was frustrating."Two years later, Samuel was diagnosed with spinal muscular atrophy (SMA) type 3.
Muscle-controlling nerves affected
SMA is a rare disease that affects about one in 10,000 newborns in Switzerland. SMA causes motor neurons in the spinal cord to become damaged. The lack of SMN protein (SMN = Survival of Motor Neuron) caused by a mutation leads to the fact that the nerve cells of the central nervous system (CNS) in the spinal cord and brain can no longer control the muscle cells. As a result, the muscles no longer function correctly. Muscle strength decreases more and more. The degenerative course of the disease is evident in all those affected and leads to a steady loss of independence and quality of life. This can lead to a person no longer being able, for example, to eat independently, carry out personal hygiene or operate a computer keyboard.
Thanks to the therapy, Samuel (above) can spend time with his father Michel Cormier (below) more carefree again.
Correctly interpreting the first signs
Early diagnosis often proves difficult, because the typical symptoms are usually not recognizable shortly after birth and, depending on the type of SMA, only become apparent in different ways later in the disease's course. Samuel's father, Michel Cormier, remembers: "Samuel was a happy baby when he was born. However, it was noticeable that he went directly from sitting to walking. He never crawled. Another visible sign of how to recognize SMA: Toddlers struggle to walk, always holding on, propping themselves up and pulling themselves up on the banister when climbing stairs."At the age of 14, Samuel's gait pattern changed noticeably; he moved his hip forward and only then his legs.
What the family doctor classified as a normal developmental phase led a specialist on the right track and to the correct diagnosis. SMA should therefore always be considered in cases of muscle weakness. In suspected cases, a definite diagnosis can be made in a very short time with a genetic test (dry blood map). It enabled immediate therapy.
Influencing the course of the disease
An important part of the therapy is interdisciplinary symptomatic treatment measures, such as occupational therapy to improve flexibility and general functioning, orthopedic treatments to treat a possible spinal curvature (scoliosis) through postural supports or corrective surgery.
Currently, there are several approved therapies available that can counteract the progression of the disease – one of which Samuel is benefiting from. "Shortly after starting the therapy, I was able to see an immediate effect. I felt lighter and felt no prere on the muscles."
Generally, the earlier treatment is started, the higher the chances of stabilizing motor skills. Often, an improvement in motor skills is even observed in the opposite direction to the natural progression of the disease, which is a positive influence on patients' quality of life.
This is also the case with Samuel, as his father proudly tells us: "Samuel can walk better and further. He gets out of the wheelchair on his own again and hardly needs it anymore. We were even able to play a round of field hockey together. What a blessing."
Mindfulness for SMA
Education about SMA is important so that diagnosis and adequate care can be provided as early as possible. The earlier therapy is started, the more muscle function can be preserved or even improved. In this way, the impact of the disease on the lives of those affected can be kept as low as possible. Samuel's advice to sufferers with SMA: "Anyone who has the opportunity to start treatment should do so.