I was born in Bosnia, but came to Denmark as a war refugee in the early 90’ies, where I now live with my husband and our 2 beautiful boys, Arian and Kian. The oldest, Arian, was born December 19th 2014 and although it took us some time (and a lot of testing, long hospital stays and wrong diagnoses) to get the correct diagnosis, in retro perspective, he was showing us signs that he, in deed, was a GRIN kid from the beginning. He was diagnosed just a few weeks after his 1th birthday with a point mutation on the GRIN2B gene. I remember the letter we received from the geneticist stating that they have found a GRIN2B and a bunch of letters and numbers (p.Gly689Ser and then something 2065G>A) and how all of it was pure gibberish – I didn’t understand any of it . Doctors and geneticists had no answers I felt quite discouraged by the lack of information about the disorder so I felt that I had no other choice than to figure it out myself.
The first thing I did was to create a Facebook page “Arians Journey with a GRIN2B mutation” hoping to find others to connect with and share our insights. Soon after other GRIN parents started contacting me and it felt like we were no longer alone. In the meanwhile, I spent every single spare minute trying to learn everything I could about the GRIN genes, the NMDA receptors etc. I was so eager to increase research and awareness about this ultrarare disorder, but I was missing others to discuss my findings with and I was missing researchers wanting to look into it. I reached out to so many researchers and most of them never responded, but the few that did made a huge difference. Soon after I created another Facebook group focused on GRIN research called “GRIN Research Discussion Group” and that played a big role in our journey as it made it possible for me to get in touch with parents who were just as hooked on figuring this out as myself. Shortly after GRIN Europe (former GRIN2B EUROPE) was established. Since then, we have moved things forward – research wise, but also family support wise. It no longer feels like a hopeless and lonely journey it started out to be.