Ajda's
Story

Ajda is a little girl with blue eyes and golden curly hair, and she comes from Slovenia, Europe. She will turn three this spring. She loves playing with a ball, listening to songs, and adores her balance bike. But Ajda is not an entirely typical little girl – she is a small fighter who, in addition to kindergarten, attends therapies almost every day to help her better understand the world around her. At birth, she looked like a perfectly healthy, curly-haired baby girl (she only opened her eyes on the third day). Everything went smoothly – breastfeeding started without any problems, she gained weight nicely, and the nights were peaceful. Then, suddenly, the first signs began to appear, along with the first medical examinations. The very first visit to the ophthalmologist showed that Ajda has a narrowed optic nerve. The explanation was that information travels more slowly to the brain. What this would mean for her development remained unclear – we were told that the outcome could range across a very broad spectrum. This was the first shock we were not prepared for. The information we found online at the time was not encouraging at all. Over time, our concerns only deepened. Ajda began to show developmental delays, while the pediatrician reassured us that she was progressing, just that she was a calmer child and that we should not expect too much. We were even told that it was not Ajda who needed help, but her mother. But we could not simply wait and watch. We felt that Ajda needed more, and the appointment at the developmental clinic was still two months away. So we sought help from Ana at Mini svet (movement classes for the youngest children). She was the first person who truly listened to us and recognized our distress and Ajda’s need for additional support. She showed us exercises, explained what to watch for, and was there for us during those difficult moments. She also connected us with Meta, who provides MNRI therapy. When I first heard about these therapies, hope was rekindled inside me. Even a single therapy session had a positive impact – not only on Ajda, but on me as well. Meta was not just a therapist; she was also an important source of emotional support for us and helped us learn how to support Ajda in all areas. One week after the first therapy session, when Ajda was six months and one week old, she made her first roll. We were overjoyed – the first milestone had been reached. Before we began therapy, I went through the hardest months of my life. Facing the fact that your child might not be as you had imagined was the most difficult thing for me. I cried all day and stayed awake almost every night, overwhelmed with thoughts. Questions without answers kept coming: How much will she develop? Will she walk? Will she talk? Why did this happen to us? Is it my fault? My head was full of thoughts. But Ajda needed to work – she needed it. Since I did not have enough strength myself, my partner took over the exercises and worked out with her every day, several times a day, as much as energy allowed. A month later, we had an appointment for a head ultrasound. It showed certain brain changes, which were confirmed a month later by an MRI (thinned corpus callosum, agenesis of the anterior limb of the internal capsule, bilaterally thinner posterior limb of the internal capsule, altered shape of the lateral ventricles, cavum septi pellucidi, thinner right optic nerve, developmental abnormalities of the cerebellum, hypoplasia/atrophy of the right pons, enlarged fourth ventricle). Despite this, the doctors remained optimistic and emphasized that time would show the direction her development would take. However, these findings completely broke my partner. Until then, he firmly believed that Ajda was fine and that she only had eye problems – strabismus and ptosis in her right eye. We intensively enrolled Ajda in self-funded therapies, and not only there – we also worked and exercised with her every single day, as much as we had the energy for (MNRI, osteopathy, health support therapies, PIASTM therapy, Poliklinika Polovina Stojčević in Zagreb). When Ajda was a year and a half old, we received the results of genetic testing. They revealed a TUBB3 gene mutation – variant c.1138C>T, R380C. So far, this variant has been identified in only six other individuals, which means Ajda is the seventh person in the world with this specific variant. Another shock. We hoped that the information we would find might at least be somewhat encouraging – yet at the same time, you know that every child writes their own story. Ajda is writing hers in her own way. And we are doing everything we can to give her as many opportunities for progress as possible. She proves it every single day – that she is a little fighter who makes us happy and teaches us what truly matters in life. Ajda is almost three years old. She is not yet able to walk independently, but with support she can stand up and walk. (She first rolled over at six months, began sitting at eleven months, started sitting up independently at one year, and began crawling at fifteen months.) She drinks and eats independently. She has a few words, though she mostly uses her own way of speaking. Her eye contact is limited. She is sensory sensitive. Her biggest challenge is social interaction – she values her personal space very much. Being strong in such a situation is not easy, which is why we are deeply grateful to our family, friends, and acquaintances who support us not only emotionally but also financially on this journey – so that Ajda can receive as much help as possible.