The genetic test confirmed that I have SMA type I. This type is the most common type of spinal muscular atrophy and at the same time the most clinically serious form. Fortunately, there are already effective treatments available to slow the progression of this disease and I have recently started treatment of Spinraza.
So what can I do right now? Here is a quick summary of my current mobility skills! When I’m lying on my back, I can roll from side to side and lift my legs into the air. I have good fine motor skills and can take a toy in my hands and enjoy playing.
This disease is typically most pronounced in the lower limbs, but my situation is a little different, as I have the weakest motor function in my chest and shoulders which makes it difficult to turn onto my stomach. But if someone helps me onto my stomach, I am strong enough to hold my head up for a little while on my own. When my head becomes too heavy for me, I can roll back onto my back all by myself.
My spirits remain high and I’m continually happy, smiling and calm – my parents describe me as always being in a good mood! I keep believing in the possibility of a better tomorrow.
On May 18, 2020, I managed to roll onto my belly again and I managed it all by myself ❤ My parents were overjoyed about it! Since then, I’ve been working hard on the right technique to roll over more and more often. I have a much better view of what’s happening around me 🙂