My story began long before I was born. Did you know that only one in approximately every 40 people carries an abnormality in the SMN1 gene? These people are carriers of SMA, but most carriers are unaware they carry this defective recessive gene and have no health problems.
It was two of these people who met in 2008 – they were my mom and my dad. At that time, they had no idea such a serious illness like spinal muscular atrophy existed, and they dreamed of creating a happy, joyful future and planned on having a large family with at least three children.
In August 2015, my mother and father got married and within a year they had their first son, my older brother Honzík. Since he was born, Honzík has always been a very energetic and active child and loves discovering the world. He developed very quickly and was learning to stand at eight months old and started walking before his first birthday. His active nature still continues today, he is always doing something or running somewhere, and even my parents struggle to keep up with him!
On June 4, 2019, I was born and entered the world as a calm and relaxed baby. After the experience raising my brother, my parents were glad that I was a calm and easy-going baby and enjoyed having a new member of the family. Despite my quiet nature, my movement development was relatively quick early on. When I was two months, I impressed my doctor by keeping my head on my tummy like a three-month-old, and I started rolling on my tummy alone at the age of four months. I was also able to roll barrels!
Things started to change in early December 2019, when I was 6 months old. Since then, I started rolling onto my belly less and less often. Some days I was more mobile than others, and my parents were not worried at that time thinking that my laid-back nature might be why I was progressing more slowly. At the same time, I was getting my vaccinations so my parents thought this might be another reason why my development was slowed and they were convinced that I would catch up soon.
Over time, however, I rolled onto my belly less and less frequently until I laid almost exclusively on my back and only rolled onto my belly by chance. At the beginning of February 2020, my parents were very concerned that something wasn’t right, so they began consulting with the doctor and rehabilitation therapy was recommended to speed up my development. As a result of the delay due to long wait times for medical appointments as well as coronavirus unfolding, it was very difficult to have access to rehabilitation. Eventually we were successful and in only one hour of physiotherapy my parents learned three exercises on how to train me to do a “tummy tuck.” They practiced intensively with me at home, however my situation didn’t improve, quite the opposite happened.
In March, my parents were increasingly worried about me, and after consulting with the doctor again, they secured an assessment at the Children’s Neurological Outpatient Clinic in Domažlice, where on March 16 the doctor immediately recognized there was something more serious going on. Things began to rapidly change and eight days later I went to the Center for Rare Neuromuscular Diseases at the Department of Pediatric Neurology (2nd Medical Faculty, Charles University and Motol University Hospital). There I was immediately sent for genetic testing and exactly a week later, on March 31, we learned the devastating diagnosis of SMA1. At that moment everything changed for me and my family. I stayed in the hospital for further examination and the first administration of Nusinersen treatment (Spinraza), which took place on April 1 before I was 10 months old.
My whole family is extremely grateful to all the doctors and medical staff who have contributed to such a rapid diagnosis and treatment procedure. Due to the immense efforts they have made, this led to the accelerated start of my medical treatment.