We are a family of four. Me and my husband, and our two boys live in Norway. Our youngest son Henrik was diagnosed with a de novo mutation on the GRIN2B gene, we got this answer when he was 8 years old. The diagnosis opened new portals of information, and through social media it was now possible to connect with other families that have children with similar diagnoses, to share the difficulties and all the challenges, but also all the positive things that are happening in our journey of life and with the children, who are so loved and cared for, This is so precious!
I’m a board member in the GRIN Europe association and I’m also working actively in my own country. The GRIN diagnosis got registered early in 2021 at The National Advisory Unit on Rare Disorders (NKSD),which is a national service that coordinates competence in the field of rare disorders in Norway. NKSD is located at the Oslo University Hospital. In 2021 they held the first digital conference on GRIN. In early 2023 the first GRIN family meeting was held at Frambu kompetansesenter, hosted by NKSE, to gather families and the different experts and researchers.
This is very important in spreading the knowledge, learning more, and also helps to support future research in GRIN. Meeting with other families are also important steps of getting a better understanding of GRIN disorders.