Tell us about yourself and the patient in your life:
Ksenia was born in August 2019. At the age of 5 months, the first attack occurred. It took a very long time to pick up medications to stop seizures. Complete control over epilepsy has not been achieved. At the age of 1, we were diagnosed with a mutation of the smc1a gene, Cornelia De Lange type 2. Until now, Ksenia does not know how to walk, talk, chew, does not understand the addressed speech, there are no self-service skills.
What is your hope for the future for your loved one:
We hope that there will be a way to repair the damage in our gene. And Ksenia will be able to learn everything that is so easy for healthy people.