The story of Ayça
I was born in 1997 and I had quite normal infancy. Since we know SMA now, when we think about how I was in when I was so little, we notice very minor signs. Indeed, I was a toe walker and because of that my parents took me to an orthopedist. After the examination, what he said to my parents is that my muscles are very strong and I could join a ballet course, and my parents were relieved. During my regular pediatric controls, my pediatrician also did not notice any signs of SMA but as I said, when we think about those times, since we know the disease now, we can find very minor signs like toe walking, not jumping too high, but no doctor was concerned. Then, my brother came to the world. To some point, his infancy was normal again but then, when he started trying to stand up and take steps, he fell a lot and he could not stand up from the ground, he needed to take support from the sofa. Then, our parents took him to an orthopedist again, but they were only told that my brother needed orthopedic shoes. After our mom insisted to the orthopedist that my brother had something else, we were told to go to a neurologist. After the neurologist examined us, she suspected SMA and asked for a genetic test. After the genetic test confirmed the pre-diagnosis, we were diagnosed with Spinal Muscular Atrophy (SMA) at the same time: I was 7 years old, and he was 21 months old.
At that time, there was no treatment for SMA. Our parents literally tried every way to slow the progression, but without any treatment, no matter what we did, we lost some abilities, some of our movements. I witnessed how can a disease progress in an individual for my brother and I experienced how can a disease progress in an individual, for myself. We did physiotherapy, we swam, we went to our neurology controls regularly, we ate healthy foods, we avoided sick people because sickness is more dangerous for people with SMA. At the same time, both of us went to school and we were, and we still are very successful students. I studied Molecular Biology and Genetics for my bachelor’s degree and my reasons to study MBG must be obvious. 😊
At the end of 2016, FDA approved the first treatment for SMA – a scientific breakthrough. We put enormous efforts to make it accessible for SMA patients in Turkey, and after a time, we succeeded. Now, more than 1700 SMA patients, including babies, children, teens, young adults, and adults, are treated with it in Turkey.
Now, my brother (Burak Can Şahin) is a freshman in Computer Engineering. I obtained my BSc from Molecular Biology and Genetics department and now I am a PhD student in Neuroscience whose thesis research will focus on SMA. With the treatment, we noticed many improvements and we regained some lost abilities. It is totally a miracle is that the sentence once we heard “SMA has no treatments” is obsolete now. My brother can now stand with support and KAFOs (a type of orthosis) after 9 years without standing and bearing his weight at all. Our parents’ efforts are amazing, and they definitely make us the winner in the race with SMA. Before treatment, I was about to lose my ambulation, but now with treatment, I can walk much better. We continue physiotherapy, exercises, our treatment, and everything we do but we are in a very lucky and hopeful time for SMA. I hope to contribute to science and enlighten people’s lives just like how science and researchers enlightened my life.
You can follow our SMA journey and improvements with the treatment from the Instagram account which my mother created for us. Username is @ayca_burak_annesi
Instagram link: https://www.instagram.com/ayca_burak_annesi/?hl=en
You can follow me on Instagram: @aycaash
Instagram link: https://www.instagram.com/aycaash/?hl=en
You can follow me on Twitter: @MsGeneticist
Twitter link: https://twitter.com/MsGeneticist