¿Qué son las enfermedades raras o poco frecuentes?

Las enfermedades raras (ER) o poco frecuentes son aquellas que tienen una baja prevalencia en la población. Para ser considerada como rara, cada enfermedad específica sólo puede afectar a un número limitado de personas. Concretamente, cuando afecta a menos de 5 de cada 10.000 habitantes.

Enfermedades raras

Las enfermedades raras van de la fibrosis quística y la hemofilia al síndrome de Angelman, con una incidencia de aproximadamente 1 caso por 15.000 habitantes, y al síndrome de trigonocefalia de Opitz, que es extremadamente raro, con un caso por millón de habitantes.

Características que definen a las enfermedades raras

Las enfermedades raras son, en su mayor parte, crónicas y degenerativas. De hecho, el 65% de estas patologías son graves e invalidantes y se caracterizan por:

  • Comienzo precoz en la vida (2 de cada 3 aparecen antes de los dos años)
  • Dolores crónicos (1 de cada 5 enfermos)
  • El 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.

Día Mundial de las Enfermedades Raras

El Día de las Enfermedades Raras es un evento anual de sensibilización coordinado por EURORDIS en el plano internacional y por las Alianzas Nacionales y las Organizaciones de Pacientes en el ámbito nacional.

El objetivo principal del Día de las Enfermedades Raras es crear conciencia entre el público y los responsables de las decisiones generales sobre las enfermedades raras y su impacto en la vida de los pacientes.

El lema del Día de las Enfermedades Raras 2019 será: «Uniendo la atención social y la de salud»

Para la mayoría de las personas que viven con una enfermedad rara, así como para sus familiares o cuidadores, la realidad de la vida diaria puede incluir cualquier combinación de lo siguiente: recolectar y tomar medicamentos, asistir a citas, participar en terapia física, usar equipo especializado y acceder a varios Servicios de apoyo social y comunitario y atención de relevo. La gestión de estas tareas relacionadas con la atención junto con sus actividades diarias habituales, como el trabajo, la escuela y el tiempo libre, puede ser un desafío.

A pesar de que la angustia de los padres de niños con enfermedades raras inicialmente puede llevarlos a aislarse, pronto se dan cuenta de que hablar con personas que están atravesando por la misma situación es invalorable. “Deben intentar conectarse con otros”, dice Paloma Tejada, directora de comunicaciones de la Organización Europea de Enfermedades Raras (EURORDIS), una alianza de organizaciones de pacientes y personas activas en el terreno de las enfermedades, no gubernamental y dirigido por los pacientes.

Con el fin de promover la necesaria colaboración internacional, la Comisión Europea apoya cada vez más las iniciativas de colaboración, incluidas las asociaciones de pacientes, y especialmente a Orphanet, creada en 1997 por expertos en enfermedades raras y la abogada Ségolène Aymé, con el objetivo de establecer una base de datos de acceso gratuito sobre enfermedades raras y medicamentos para tratarlas, los llamados medicamento “huérfanos”. En 2000, Orphanet creó un portal de información sobre enfermedades raras y medicamentos huérfanos, y también está coordinando el Grupo Consultivo Temático sobre Enfermedades Raras de la Organización Mundial de la Salud, a cargo de la revisión de la Clasificación Internacional de Enfermedades.

¿Qué son los Medicamentos Huérfanos (MH)?

Los llamados ‘medicamentos huérfanos’ van dirigidos a tratar enfermedades raras, es decir afecciones tan infrecuentes que los fabricantes no están dispuestos a comercializarlos bajo las condiciones de mercado habituales. El proceso que va desde el descubrimiento de una nueva molécula a su comercialización es largo (10 años de media), caro (varias decenas de millones de Euros) y muy poco seguro (de 10 moléculas ensayadas, sólo una suele tener un efecto terapéutico). Desarrollar un medicamento dirigido a tratar una enfermedad rara no permite, en general, recuperar el capital invertido para su investigación.

Información y listas de enfermedades raras

La FEDER (Federación Española de Enfermedades Raras) proporciona una lista en el que aparecen las patologías que son las enfermedades que representan los socios de FEDER, tiene como fuente, en la mayoría de los casos, Orphanet, y en unos pocos casos, ha sido proporcionada por alguna asociación de referencia de la patología.

En Argentina, la FADEPOF (Federación Argentina de Enfermedades Poco Frecuentes) también facilita también información sobre ellas.

Ubicar una ONG o grupo de una enfermedad poco frecuente

Cuando se diagnostica con una enfermedad poco frecuente, se deberá recorrer un camino que para el paciente y su familia desconocían.

La sensación de angustia y soledad suelen acompañar estos diagnósticos y el impacto familiar a nivel emocional, social, laboral y económico suele ser inevitable.

De ahí la importancia de que se conecten con otros que vivieron lo mismo, organizaciones y/o grupos de pacientes que ya han transitado parte del camino y podrán contenerlos.

La FADEPOF pone a su disposición links correspondiente a la organización o grupo para contactarte con ellos.

Además, y debido a su éxito en 2018, la campaña de las redes sociales #ShowYourRare continúa en 2019. Las personas de todo el mundo se pintarán la cara y mostrarán su “rareza” en el Día de las Enfermedades Raras. ¡Involúcrate!

Fuente:

OMS – Organización Mundial de la Salud (https://www.who.int/bulletin/volumes/90/6/12-020612/es/)

FADEFOP – Federación Argentina de Enfermedades Poco Frecuentes (http://fadepof.org.ar/)

FEDER – Federación Española de Enfermedades Raras (https://enfermedades-raras.org/index.php/)

FEMEXER  – Federación Mexicana de Enfermedades Raras (http://www.femexer.org/)


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