Our only and beloved son, Bata, is 9 years old. While expecting him we imagined what he would be like, and could not wait for him to change our lives for the better. But when he was born, our lives did change.

At first everything seemed to be normal, but at 1.5 months Bata had his first epileptic seizure. Our baby reacted poorly to the environment, did not play with his toys and could not sit or crawl. The doctors diagnosed him with Cerebral palsy and epilepsy. Time passed, but our son did not get better, he almost did not develop, and epileptic activity in his brain would reach 100% during his sleep. We took him to all sorts of habilitation activities, tried to teach him, but had only meager successes. Our son was prescribed up to 3 anticonvulsants, that took care of only external seizures, they also hindered his already poor development.

Comparing our son with other children with cerebral palsy, I noticed that he was different from them, so I started asking whether it could be some sort of genetic disease. They all said it was highly likely, but usually it did not mean anything good, because genetic damage is most often incurable. Taking an expensive genetic test that would yield no results seemed unnecessary. Then we decided to get a second opinion from a new epilepsy specialist in another city. He gave us our first hope and a new diagnosis: Epileptic encephalopathy, presumably genetic. He told us that soon they will find treatment for our son’s condition, because science is developing, and he suggested that we get the testing done. What if?! Was there a chance for cure ?! So we got tested right away. The results came just before my birthday. The doctor’s diagnosis was confirmed. It turned out that my son had rare mutation in the GRIN2D gene, and that was the reason for the serious condition of our baby.

I immediately started looking on the Internet for information about my son’s illness, and on Facebook I came across a page created by parents of children with the same mutation. Here, other GRIN families have given me hope that treatments and cures for GRIN Disorder are possible in the future.

It felt like winning a very bad lottery and then finally getting that lucky ticket. We hope that our beloved baby will soon be able to say to us “MOM, DAD”, hug us, kiss us, crawl, jump, run and play! This will be the happiest day in our life!