Lucas was born on February 1, 2019 by emergency cesarean section. I stopped feeling him and as he was already 38 weeks old, the obstetrician at the hospital said she was going to take him out. Shortly after birth, Lucas had to be aspirated because he had ingested amniotic fluid. He was admitted to neonatology and a few hours later, he went into asphyxia. They had to intubate Lucas because he was not able to breathe. He had several cardiac arrhythmias and was transferred to another hospital very far from home. When we arrived at that hospital, I was told that Lucas’ case was very serious. They did not know if he would survive. He had a septic infection which affected several organs, including the brain, but Lucas was a fighter and after 24 days we were able to go home.

We immediately scheduled neurology and cardiology appointments because they were afraid that there would be effects from the infection. At 2 months old, we noticed the Lucas was different. He was not reaching milestones. Our neurologist asked for an MRI when Lucas was 5 months old.  The MRI came back with no abnormalities, but the Lucas still didn’t reach developmental milestones. Genetic tests were then requested. The first few tests were normal and we also had others requested in which we had to take our information, as well. At 6 months old, we started physiotherapy. Lucas was referred to the ElI (local team of early intervention). He also started occupational therapy and was evaluated in speech therapy at 9 months old because he couldn’t eat solids. Lucas has evolved a lot in these 3 years in the sense that he already holds his head well, his torso strength is getting better and he loves to be able to stand, held by us or in the standing frame. He started to really focus and follow many objects and even us at home. He can already drink from a glass or straw and he has started to eat solids although still limited to the soft foods. Lucas is able to eat bread, crackers, pasta, rice, potatoes, meat, vegetables, and lots of fruit, as long as it’s not hard.

Lucas has had one seizure, but it was with a high fever. Due to some other symptoms that we noticed, like getting scared out of nowhere, we ran an EEG which diagnosed Lucas with mild epilepsy. He was put on medication and has never had these symptoms again. He also has sleep disturbances and very difficult nights. In the midst of all of this, he is a boy with a contagious smile! He loves cuddles! He is a boy who conquers everyone who has contact with him. He came to teach us how to be better and enjoy the days one at a time. We are so thankful to have him in our lives.

On January 31, 2022, we received the results of the last genetic tests carried out. Lucas was diagnosed with GRIN1.