Founder of SCN2A Georgian Association
My journey in rare disease world has started from my son’s diagnosis. He was diagnosed with SCN2A gene mutation in September 2020 at the age of 3 months. We hoped that the diagnoses could give us all the answers but we even had more questions without answers after the diagnosis. So, I started searching the answers and that’s how I became the patient advocate, first advocating for my son and now for all rare disease patients in Georgia. In March 2021 I have established SCN2A Georgian Association to raise awareness towards SCN2A gene disorders and to help other families impacted by SCN2A gene. Since November 2021 SCN2A Georgia is the member of EURORDIS. I’m the alumni of EURORDIS Winter School 2022. I’m also an ePAG in EpiCARE ERN since September 2022. From May 2022 I’m the member of working group organized by MOH of Georgia to work on creating national plan on rare diseases and rare disease registries. I was one of the organizer of rare disease day 2023 that was a great experience for me.
My future goal is to establish rare disease organization in Georgia were all rare disease organizations will be able to join and work together on improving quality of life of PLWRD.
Video from this speaker: