Lucas

When we received Lucas’s diagnosis, we were overwhelmed by different feelings. On the one hand, we felt relief and gratitude, because it is a very difficult disease to detect and at last we knew what was happening to our son. But of course, as it is not a well-known disease, uncertainty quickly appeared, followed by fear and sadness. The process of understanding, taking it in and accepting it was beginning. In fact, we are still in that process. In our case, it is helping us a lot to have found 6 other families with the same diagnosis, to know that we are not alone, to support one another and, above all, to know that we share the same goal. The commitment of the professionals close to Lucas is also a fundamental part of the long journey ahead of us, not forgetting the family and friends around us who always encourage and support us.

From when he was very little, we began to notice that Lucas was not developing at the pace expected for his age. What at first seemed to be a motor problem turned out to be a developmental delay. We saw behavioural problems, delayed speech and difficulty understanding in the usual way, among other things. We also noticed that Lucas often seemed absent, staring into space. We were also struck by the fact that he sometimes fell in a strange way, as if his body was not responding: many symptoms that were hard to link to any common illness. At the age of three he had a genetic test, and with it came the diagnosis of SLC6A1.

His happiness is what matters most to us, and if that means we have to fight to raise awareness, support research and achieve whatever is needed so that his independence, quality of life, health and wellbeing are the best they can be, we will do it to make that dream come true.

Fortunately, there are several lines of research that are getting good results. That is the good news; the bad news is that there are not enough resources to continue the research, at least at the pace our little ones need. Sadly, it is still an invisible disease, and we have to change that. This is where donations matter: even a small contribution can help enormously, because grain by grain you can build a castle.