RETINACV estuvo presente en el Día Mundial de las Enfermedades Raras

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El pasado día 28 de Febrero, fue el Día Mundial de las Enfermedades Raras y Retina Comunidad Valenciana estuvo presente en diversas mesas informativas, divulgando y dando visibilidad a ésta patología. Una de esas mesas estuvo en el Hospital General y la otra en el Ayuntamiento de Valencia.

Por otra parte FEDER (Federación Española de Enfermedades Raras) aprovechó este día para poner en marcha numerosas iniciativas que pretenden sensibilizar a la ciudadanía acerca de las enfermedades poco frecuentes y fomentar la inclusión social de las personas afectadas. Desde la Federación, además, insisten en que no es raro tener una enfermedad rara, tal y como apunta el lema.

Concretamente, del 6 al 8% de la población mundial, más o menos estaría afectada por una de estas enfermedades. Esto significa más de 3 millones de españoles, 27 millones de europeos y 25 millones de norteamericanos. Cifras que hacen reflexionar.Sin embargo, muchas familias viven el diagnóstico de una enfermedad rara en alguien de su entorno -normalmente se diagnostican en la infancia- como una auténtica odisea, primero para diagnosticar y después para tratarla.

La razón es que la falta de información y el desconocimiento social de estas enfermedades provoca situaciones tales como que la media de diagnóstico para estas patologías sean 5 años o que el 76% de las personas con estas enfermedades se sienta rechazado y discriminado.

Si a esto le sumamos la condición de cronicidad de las ER, el resultado es que en el 85% de los casos se requieran tratamientos de por vida. Esto provoca un alto impacto en la economía de las familias afectadas. Se estima que el 30% del coste anual de estos medicamentos no están cubiertos por la Seguridad Social. Este dato es sólo una media, ya que hay enfermedades en donde se llega a asumir el coste de hasta el 80% del gasto, como ocurre en la enfermedad de X-Frágil o Epidermolisis Bullosa en donde el porcentaje de medicamentos no cubiertos por el Sistema Nacional de Salud  llega hasta el 64% .

¿Cuáles son sus características?

  • Se trata de aquellas patologías que afectan a menos de 5 por cada 10.000 habitantes.
  • Se han identificado entre 6.000 y 8.000, y afectan a 25 millones de ciudadanos europeos.
  • No existen tratamientos efectivos para la mayor parte de las patologías. Dos de cada tres aparecen antes de los dos años.
  • El 75% de las enfermedades raras afectan a niños.
  • En el 85% de los casos, las terapias son de larga duración o permanentes.
  • Son, en su mayor parte, crónicas y degenerativas. De hecho, el 65% de estas patologías son graves e invalidantes
  • Uno de cada cinco enfermos padece dolores crónicos.
  • Hay un desarrollo de déficit motor, sensorial o intelectual en la mitad de los casos, que originan una discapacidad en la autonomía (1 de cada 3 casos).
  • En casi la mitad de los casos el pronóstico vital está en juego, ya que a las enfermedades raras se le puede atribuir el 35% de las muertes antes de un año, del 10% entre 1 y 5 años y el 12% entre los 5 y 15 años.
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