I am María José, Estefano’s mother. Jehovah gave me a beautiful gift. Estefano, my baby. I’m going to tell you how the best gift of my life arrived. On November 5, 2019, at 39 weeks and two days, my prince Estefano was born. At the time of delivery, my son was born with a very blue color to his skin. The doctors looked very scared and told me to kiss my baby and they would bring me back in two hours if everything went well. At that moment I started to shake, I had a lot of chills. After 5 hours they gave me my baby, everything was fine, but my son complained a lot and at dawn he drowned and they gave him oxygen to stabilize him. At that moment they took him to Neonatology. They did several tests and found that he was at risk of neonatal sepsis and reflux. They were evaluating him and seeing if he tolerated breast milk. After five days, he was discharged and I was able to take him home. After eight days I took him to pediatrics for a check-up. He told me that he has a yellow discoloration on his skin and has to go to the hospital for three days of phototherapy.

He recovered and returned home, everything was normal. He laughed, he realized his tone and he tried to sit. What seemed strange to me was that the toys did not attract his attention and his hands were kept closed like a fist. At four months, we gave him several vaccines and from there we began to notice that he stopped developing. At six months, we gave him another dose of vaccines and we knew he stopped developing. We began to notice that he had a deviation in his right eye. When we brought him closer to the light he lowered his gaze because the light bothered him. He couldn’t roll or sit up. A month later he had his appointment with the neuropediatrician.

After a month, the neurologist began to perform all kinds of exams and everything went well. My baby started having seizures at 1.5 years old. Bilateral frontal epileptiform seizures were detected and we started with Keppra. Finally, the doctor referred me to a geneticist and that was when we discovered that Estefano had GRIN1.

In my country, there are no resources to cope with this disease, they had no idea what it was. The doctors told me to investigate. It is when we decided to come to the United States that my son finally had very good care. In all the electroencephalograms that have been performed, it appears that he no longer has epilepsy, which is why they are going to lower his medication little by little. They detected that he has dysphagia when passing liquids so my baby must drink thick liquids. He has constipation problems and lately he has a lot of irritability. He doesn’t sit down and he doesn’t have balance. He can’t walk, he can’t talk and he has hypotonia and involuntary movements. 

He attends school where they give him his therapies and little by little, he makes progress. I’m very happy that he realizes who I am, he realizes his surroundings and cognitively he has improved a lot. Physically, he can sit and stand with support. What he loves is going around a lot. He throws a lot of tantrums and likes to dance. Despite everything, he is a very happy baby. It is my greatest blessing. I am very excited since on November 5th, he will turn 5 years old. He is the prince of my life and I am willing to help in any way necessary to raise our beautiful children.