31.07.2020 We finally received the genetic test results from Freiburg, Germany, confirming that Daria suffers from Wiedemann-Steiner Syndrome with a mutation in the KMT2A gene. Currently, her neurological state seems to be improving.
Daria’s case is special because, in addition, she has an immunodeficiency disorder, which consequently places her in an unknown genetic category- only 3 people in the world suffer the same fate!
Naturally, the doctors are trying to predict the evolution of the disease and for that, numerous blood tests are required. The biggest obstacle is that the mutation occurred “de nuovo” , which means that the mutation is sporadic and it didn’t previously exist in our genetic make-up (as parents).
Regarding Daria’s problem with her liver, today a biopsy was performed in order to have a better understanding of the situation. As soon as we get the results, we will update you.
Thank you for all your support, Adrian and Ionela