la foto

Síndrome de duplicación mecp2

Jose y Ana son jóvenes y felices. Un día deciden aumentar su familia y tener un hijo. El embarazo se desarrolla normalmente, y nace su hijo Aitor. Pero a los 7 meses, se dan cuenta que el desarrollo de Aitor no va bien, y su mundo cambia por completo.
En noviembre de 2013, Aitor (3 años) fue diagnosticado con el síndrome de duplicación mecp2. Como consecuencia del síndrome, estos niños padecen crisis epilépticas, problemas respiratorios, insomnio, espasticidad, estereotipias, ataxia, retraso mental, de lenguaje y psicomotor…y la esperanza de vida es de 25 años.

Con estos terribles datos, Jose y Ana, deciden crear la primera asociación en España para poder financiar una investigación para poder encontrar una cura o tratamiento que pueda dar una mejor calidad de vida a su hijo y al resto de niños que padecen la enfermedad, ya que por su baja prevalencia (25 casos en España) no es viable investigarla.
El Hospital Sant Joan de Deu de Barcelona ya esta investigándola gracias a los fondos recaudados en su grupo Teaming, a los eventos solidarios que realizan, recogida de tapones y donaciones que reciben.
Son conscientes de que en la actualidad no todo el mundo puede ayudar como le gustaría por eso promueven la ayuda a través de teaming. Ya que con tan sólo 1€ al mes aunque parezca poco para uno, la suma de todos hacen mucho. Para ellos es dinero que entra fácilmente sin tener que dedicar tiempo y esfuerzos. Tiempo y esfuerzo que su hijo necesitan.
Por eso animan a todo el mundo para que se sume a su grupo teaming https://www.teaming.net/miradasquehablanduplicacionmecp2
¿Quieres ayudar? Únete al grupo o comparte para correr la voz!

Entra en su web www.duplicacionmecp2.es, conoce la causa, colabora como puedas, comparte…
TE NECESITAN!!

LA INVESTIGACION ES LA CLAVE

Este artículo ha sido escrito por Ana Mourelo, como colaboración con Raras pero no invisibles. Puedes informarte más en: www.duplicacionmecp2.es

 

1.706 pensamientos sobre “Síndrome de duplicación mecp2”

  1. José y Ana, no hace falta nada más q mirar atentamente a los ojos de vuestro hijo para ver q es un niño extraordinario. Ellos son especiales pero no por su enfermedad sino por si mismos. Es complicado aprender a vivir con un condicionante tan severo, pero estoy seguro q lo conseguireis y sereis (si no lo soys ya) muy felices con Aitor.
    Irradiais fuerza, mucha más de la q os imaginais. Seguid así y no os canseis nunca de luchar.
    Un abrazo y ánimo!

  2. Hola Ana, se como ayudar a tú hijo a ver si me escribes a mi email:bernab@speedy.com.pe. te escribo de Lima Peru mi cel 992964706. inclusive puedo ayudarle mirándolo por skype soy naturalista experta en mejorar la calidad de vida de pacientes que sufren de enfermedades raras. gracias.

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  3. Me encanta como tratan enfermedades raras en este blog. Como bien dicen, lo importante no es que sean raras, sino que no acaben siendo invisibles para la gente, y sobretodo para aquellos que pueden sacar curas o cuanto menos, mejoras en la calidad de vida de los enfermos.

    Un abrazo!

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