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Concepión, Chile
4 years old
November 17, 2021

Rafael

Rafael is a happy and cheerful child. He always gives us smiles and everywhere he goes, they adore him for the same thing. They have told us on several occasions that he transmits a special light.

After a long study to find out what the final diagnosis would be, in January 2021, he was diagnosed with Syngap1,

At six months we began to notice delays in developmental milestones, as a result of that a psychomotor and language delay for which he underwent a series of blood tests; one of them being the one that alarmed us. At the same time, he began to have problems with hypotonia and hypermobility, so his neurologist indicated a genetic panel of neuromuscular diseases which did not show any pathology and then admitted him to the Telethon. Then he had a great advance, managing to walk at the age of two years, four months, a moment that was very important and emotional for us.

But our happiness would not last long since after a month of walking, he began to have seizures of just seconds of absence and then shaking of the head especially when he was eating. He also suddenly falls; a moment of onset of Epilepsy. To prevent strong blows, his helmet accompanied him for a few months, until we managed to control his epileptic seizures where it has remained without seizures to this day. Later they indicated that a genetic panel of epilepsies be carried out, resulting in this condition.

He also has an ataxia, he doesn't speak yet, but he says and reads some vowels, language is the biggest challenge. His autism traits. Until recently he began to have some behavioural problems, but in general he is a very affectionate and funny child. He is a little boy making people laugh with his crazy things. However, he still has his character and is very alert and intelligent.

He loves water, animals especially the dog, he got a dog companion from his aunt who sometimes plays with him, called Loki, he encouraged him and helped him a lot to walk. He also likes to play the piano, he does it with feeling, he likes music a lot, he has a good ear for it, he is mesmerized by classical music.

He is our brave little warrior who we love with all our soul, who has taught us a lot about the value of perseverance and to be stronger, especially in the search to give him the best tools for his development and continue this fight to improve his quality of life. Their names have meanings; Rafael: The one that God has healed and Arturo: Strong as a bear, we do not lose hope.

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