Our sunshine Elio was born in February 2009. He appeared to be healthy and looked like a little “Monchichi.” But after a few months we noticed that something was wrong with his development. Elio often cried heavily, slept very little, was often constipated, and eating was very difficult. At first, due to the difficult birth, we thought he had an oxygen deficiency or the so-called “kiss syndrome.” There was initially no evidence of illness. Later examinations in the hospital, such as magnetic resonance imaging, lumbar puncture and an array CGH examination in 2011, still did not provide any evidence of an illness. We went to various doctors, including neurologists, orthopedists and ophthalmologists.

After a year, we started with therapies such as physiotherapy according to Bobath / Vojta and early intervention. Then it went in small steps. At 18 months he was able to crawl and sit freely, at two years and nine months he could walk and stand up freely. He also spoke a few words and tried to repeat words when he was almost four years old. Initially, the diagnosis of developmental delay remained unclear etiology with behavioral problems, hyperactivity, stereotypical movements and hypotension with low muscle tone. In 2014, epileptic seizures occurred for the first time. During these, Elio would only respond to us in monotone before falling asleep. The doctors could not clearly identify epilepsy, but an epilepsy drug brought about improvement.

In August 2016, the doctors of human genetics in Freiburg diagnosed the genetic defect GRIN2B during a hospital stay in an epilepsy clinic. From time to time, we visit a therapy center for intensive therapy. In everyday life, Elio alternates between physiotherapy, occupational therapy and speech therapy. He is very fond of swimming, horse riding, walks, playing football, going on vacation (children’s hotel) and his trampoline, as well as watching cars and fans. Now he is starting to ride a therapy bike. He speaks short sentences, likes music and likes to sing along with songs. He also likes to eat crab rolls as well as semolina and jelly. His eating habits have improved a lot. Elio has been receiving a new drug to treat epilepsy (Orfiril long) since 2018 and has been seizure-free since the drug switch. On the previous drug (lamotrigine), he exhibited aggressive behavior (fits of anger, biting, kicking), which, however, subsided again after the drug change.lau