Blogger and wife of singer Viktor Pavlik, Kateryna Repyakhova, shared a candid story about the health of their 4-year-old son Mikhasyk.
According to Kateryna, the boy was diagnosed with an extremely rare genetic mutation that disrupts the transmission of signals in the brain. This became a serious challenge for the family, as the child's development did not correspond to his age.
“ A very rare genetic change was discovered in Mikhasyk that affects the transmission of signals in the brain. There are general diagnoses, such as ASD, but our case is special: a breakdown in a specific gene. Therefore, there is a targeted therapy that does not just help from the outside, but provides the brain with what it lacks, ” Repyakhova explained.
To establish the diagnosis, the family underwent a series of examinations, including a genetic test. It turned out that there are dozens of similar cases in the world, and the type of mutation, like Mikhasyk's, has been recorded only once.
The child is currently undergoing individual targeted therapy aimed specifically at correcting this genetic problem. Repyakhova notes that the right approach gives her son a chance to significantly improve his development.
“ About 60–70 people with similar mutations have been described in the world. But our specific case is currently unique. Therefore, the therapy is very specific and individually selected ,” emphasized Kateryna.
The family admits that this path is not easy, but they believe in a positive outcome and call on society to be understanding about the problem.
