The Camachos’ Journey with MED13L

The responses below were originally written in Spanish and translated using a third party service.

What is your family like?

We are a family of four. Eugenio is the youngest. We noticed a delay in his development at 12 months, since he does not walk, but through therapy he achieved it at 18 months. We started this path because he did not speak, and within two years and months the MED13L diagnosis arrived. 

Somos una familia de 4, Eugenio es el más pequeño, notamos un retraso en su desarrollo a los 12 meses, ya que no camino, por medio de terapia lo logro a los 18 meses, iniciamos este camino porque el no hablaba, y con dos años y meses llego el diagnostico MEDl13.

What do you do for fun?

We go out to the squares, places where both children can have fun, we watch movies, and laugh at everything they achieve.

Salimos a las plazas, lugares donde ambos niños puedan divertirse, vemos peliculas y reímos por todo lo que ellos logran.

Tell us about the biggest hardship you face.

Verbal expression, often not being able to understand his needs, not knowing when he feels bad, being able to talk to him about his day, his interests, people seeing him strangely and asking in a derogatory way why he doesn’t speak or behave like that, seeing how some people discriminate against him, seeing that he does not reach the developmental milestones for his age.

La expresión verbal, no poder entender muchas veces sus necesidades, no saber cuando se siente mal, poder platicar con el sobre su día, sus intereses, que la gente lo vea raro y pregunte de manera despectiva porque el no habla o se comporta así, el ver como algunas personas lo discriminan, ver que el no alcanza los hitos de desarrollo para su edad.

What impacts your to participate or not to participate in research? 

In my country there is no such research, but I would like to be part of it to contribute something, to support the parents of the future to know more about this spectrum.

En mi país no existen este tipo de investigaciones, pero me gustaría ser parte para aportar algo, apoyar a los padres del futuro a saber más de este espectro.

What is one question you wish researchers could answer about this genetic change?

What is the life expectancy for them?

Cual es la esperanza de vida para ellos.

What have you learned about your or your child’s genetic condition from other families?

That nothing is decisive, all children with this syndrome are so different.

Que nada es determinante, todos los niños con este síndrome son tan diferentes.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Do not give up, fight for your children, and know that each achievement is a success.

Que no se den por vencidos, que luchen con sus hijos, y que cada logro es un éxito para ellos.