The story of Viktoria
My name is Diana, I am Viktoria’s mother. We are from Puerto Rico. I want to tell a little about my girl’s story. I remember the first time I thought that something was not right in 2015. I never imagined that the journey to find her diagnosis would take us about five long years. It was in 2020, at the age of 8, that she told us that Viktoria suffered from Ligase 4 syndrome. A mutation in the lig4 gene (13q22-q34). The resulting defect of DNA ligase IV, a component of the classical non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Finding a ray of light has been difficult because there is very little that can be found about this. This has brought so many changes to our lives because her immune system is weak, she is underweight, many hospitalizations and other health conditions. But also many good things: how to value the family and the time we have. We still try to find a solution for her, more children like her and to give her the best. This is living day by day, because we do not know what we will face later. To all these families, like mine, today we are fighting against a disease that has turned our lives upside down, stay strong, the future may be uncertain but now, it is important to live it with them.
A hug, Viktoria and family.