Artur is a positive, friendly boy, not shy, and very sweet. Artur welcomes everybody with open arms and gives you the feeling you are the hero of the day.

You cannot read it from his face, but he has a genetic disorder that causes developmental delays and intellectual disability with little speech and limited understanding of language, and motoric delays. Movements are difficult in general. His own movements are often slow, but also the perception of movements of other people or objects is slow or absent. For example, it seems he cannot see the difference between a parked and a driving car, he just keeps going, which puts us in very risky situations on the road. 

Artur has a GRIK2 mutation with variant p.Ala657Thr . He is one of some seven diagnosed individuals. He started walking at two and half and at the age of five, he can now speak in two to three word sentences. He also knows five “complete” sentences that he keeps on repeating in endless loops. We are very proud he has come so far and he keeps making progress. I only wish he could learn to sleep better. If I sleep one night in a week without a break it’s a lot.

We are going to start a treatment with melatonin soon. In this respect, the diagnosis helps. Pediatricians listen now when we describe Artur. Without the diagnosis, they often wouldn’t believe us when we explained how we struggle. Our local pediatricians once gave the advice to give Artur warm milk with honey prior to sleep. I know that this drink contains natural melatonin, but I was talking completely different levels. I didn’t know how to respond. This was so far off our reality, it was ridiculous.

But it made me realize that he really had no clue what was going on with Artur – how could he with 7 people diagnosed!? That is why this community is so super important for us. It makes us feel less alone, we are connected, and it gives access to information and research we would normally not be aware of. I am very thankful for this community as it gives us mental support.