Gustavo Ricardo
Born in 2021
Chile
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Hola, soy Gustavo Ricardo, nacà el 2 de octubre de 2021 en Punta Arenas, Chile. Tengo 3 hermanos mayores que me aman, cuidan y estimulan. Dos dÃas después de nacer, llegué a mi casa y tuve mi primera crisis, que parecÃa ser apnea y me llevó de vuelta al hospital. Después de múltiples exámenes y convulsiones epilépticas, a los 5 meses mis padres supieron que tengo la alteración genética PACS2 (c.631G>A (p.Glu211Lys)). Los tratamientos han ido variando y actualmente mis medicamentos para la epilepsia son carbamazepina, levetiracetam y clobazam. Además, recibo kinesioterapia y terapia de fonoaudióloga. De los sÃntomas descritos para esta alteración, he presentado convulsiones epilépticas tempranas, de difÃcil medicación, criptorquidea de mi testÃculo derecho e hipotonÃa. Felizmente he estado estable desde fines de febrero y en agosto próximo seré sometido a una cirugÃa para liberar mi testÃculo.
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Hi, I'm Gustavo Ricardo, I was born on October 2, 2021 in Punta Arenas, Chile. I have 3 older brothers who love, care and support me. Two days after I was born, I got home and had my first seizure, which seemed to be apnea and took me back to the hospital. After multiple tests and epileptic seizures, at 5 months my parents learned that I have the genetic mutation in PACS2 gene (c.631G>A (p.Glu211Lys)). Treatments have been changing and currently my epilepsy medications are carbamazepine, levetiracetam and clobazam. In addition, I receive kinesiotherapy and speech therapy. Of the symptoms described for this mutation, I have presented early epileptic seizures hard to control, cryptorchidism of my right testicle and hypotonia. Fortunately I am seizure free since the end of February and next August I will undergo surgery to free my testicle.