Egor’s Story

Egor was born in July 2016. He was poorly, slept almost constantly, and somehow strangely shuddered and strained. Doctors said that everything was fine. On the sixth day, he began to have seizures, he bent, turned blue, stopped breathing, and lost consciousness. It was scary and painful to see. Until now, I had never felt so confused. In intensive care, he was prescribed phenobarbital.

At 11 months, Egor was diagnosed with cerebral palsy, symptomatic epilepsy. Although we were able to stop the attacks, Egor still did not sit, crawl, or babble. We are actively engaged in rehabilitation. Some doctors and rehabilitation specialists doubted the diagnosis, said that he did not look like a child with cerebral palsy. I was also tormented by the question of his diagnosis. I wanted to know the truth, the reason for this developmental delay.

We recently passed a genetic analysis and found out that he has a mutation in the KCNQ2 gene. Neither I nor his father are carriers of damage. Mutation de novo.

Now my son is almost 4 years old, he only recently learned to crawl, he loves cartoons and musical toys. He is very beautiful, and he has such a funny laugh. He does not speak, does not walk, and it is hard for me because often I do not understand him. But I believe that I will hear the long-awaited word Mom!

Now that I know the reason for his condition, it has become easier for me. I know that I can talk with those who understand me. I want to invent a medicine that will help Egor and other people with this diagnosis.

I really love my son. His eyes fascinate me. I see in them the cosmos, the universe, power and love. We are inseparable. Yes, it hurts, scary, lonely, insulting, I get angry … But without it, my life no longer makes sense. I will do everything in my power to make his life brighter and more fun. Egor, you are my world!