As Jarousek did not thrive during the pregnancy, the doctors decided to induce labour at 38 weeks. Our son was finally born by cesarean section, weighing 2140 g. At first, he had problems with a weaker sucking reflex, but these soon disappeared, and Jarecek even started to gain weight. For a while, we thought we had a healthy baby at home. But it didn't take long for us to realise that our son's development was not going according to plan.
Initially, we observed the delay mainly in the area of gross motor skills. Jarousek did not sit, climb, crawl, or hold his head. At nine months old, his motor development was at the level of a newborn. It was then that we began to practice the Vojta method intensively, which had a great effect on my son and enabled him to take his first independent steps at the age of three.
In addition to movement, we struggled (and still do - sometimes more, sometimes less) with sleep deprivation, food intake, hypersensitivity to various stimuli (especially sound, but also visual), digestive problems, limited fine motor skills, visual impairment, mild unilateral hearing impairment, mental retardation, and some other limitations.
Jarousek is now five years old, and although we would like him to be healthy and able to follow the interests of his peers, unfortunately, this is not the case. Due to his disability, he is currently at the developmental level of a child of about one and a half years. However, and this is most important to us, he is happy. Despite his many health limitations, he is a bundle of joy, loves to watch and smile at other people, and enjoys life.
This year was a turning point for us in relation to our son's disability. On the day of Jarousek's fifth birthday, we received the diagnosis. Alazami Syndrome - an ultra-rare genetic disorder characterised mainly by impaired growth, typical facial features, and mental retardation. The timing was perhaps a little paradoxical, but finding out the cause of all our son's difficulties was, in a way, a gift to us. And for several reasons.
It is important to remember that we knew our son was disabled at the age of five, and it was clear that we would have to deal with his delay throughout his life. But we didn't know what to expect in the future. When the diagnosis was announced, the biggest weight was lifted from our hearts when it became clear that Alazami Syndrome is not a progressive disease. Jarecek should continue to progress but at his own pace.
Having a diagnosis also makes us part of the community. Although Alazami Syndrome is ultra-rare and there are not many patients, we managed to find and join a Facebook group for patients with the same diagnosis or their parents. This has put us in touch with patients from all over the world, and we can exchange information and get inspiration from abroad. We also found out that there are two other children with the same syndrome in the Czech Republic. Among other things, this allows us to learn about other people's problems that may occur in Jarecek so that we can prevent them or at least focus on them as part of the control.
We consider the fact that we have one workplace where our son's care is concentrated to be a very important advantage. The syndrome my son suffers from covers a really wide range of problems that we had to deal with separately. Doctor Katerina Slaba from the Outpatient Clinic for Undiagnosed Pediatric Patients examined the diagnosis, willingly guided us, and even arranged for all the necessary examinations. She is always available for us. We have really missed this comprehensive approach. Of course, the bureaucratic advantage for us is to have one medical report covering the whole range of our son's problems. Until now, when we had to submit medical reports, we didn't know which one to prioritise among the many that had accumulated over time.
Last but not least, the diagnosis has opened the door for us to have another child without the fear of repeating the situation. As my partner and I are both carriers, there is a 25% chance that each pregnancy will result in the same disability. As we already know the cause, we can use assisted reproduction to prevent the disability in the next child. Although we wanted another child, we were worried until now - now we know we were right. Thanks to the Outpatient Clinic for Undiagnosed Pediatric Patients and the diagnosis, we no longer have to worry.
Jarousek's parents