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Asociación Nacional Guatemalteca para las enfermedades de depósito lisosomal

logo_ANGEL

ANGEL, es la Asociación Nacional Guatemalteca para las enfermedades de depósito lisosomal, condiciones genéticas, autosómicas recesivas que se incluyen dentro de las enfermedades raras o poco frecuentes.

Somos un grupo de pacientes, familiares, amigos y profesionales de la salud, involucrados en el tema de las enfermedades de depósito lisosomal, que buscamos llegar a nuestros objetivos de salud y calidad
de vida y que queremos sobre todo, lograr que los enfermos de enfermedades huérfanas ya no se sientan huérfanos.

Nuestra entidad nace en el año 2012 ante la realidad de buscar respuestas a las necesidades de una población sin voz.

La realidad de las enfermedades raras en general y en Guatemala muy en particular, es la de una práctica invisibilidad, debido al hecho de que a pesar de que existen miles de enfermedades hoy conocidas, cada una de estas dolencias tiene pocos individuos afectados y en nuestro país, ni siquiera sabemos cuántos.

Por otra parte, la tendencia lógica es a diagnosticar aquellas condiciones que tenemos más presentes, que son más frecuentes y con las cuales nos familiarizamos. Por eso, los médicos reconocen casos de enfermedades infectocontagiosas, o bien, crónicas como la diabetes, porque su incidencia es mayor y la posibilidad de encontrarlas en su práctica diaria es normal.

Por eso decimos que las enfermedades lisosomales, aunque muchas y con pacientes encontrados, aún ahora, son invisibles, no tanto porque no existan, sino porque se hace muy difícil diagnosticarlas o peor aún, se diagnostican erróneamente.

Si usamos como ejemplo el Síndrome de Gaucher, que tiene una media mundial de un caso cada 36,000 habitantes, deberíamos tener registrados en el país cerca de 400 casos. Pero el hecho es que en este momento tenemos registrados vivos; 5 casos, nada más.

A esto multipliquemos que solo en el grupo de las lisosomales la OMS reconoce 48 enfermedades diferentes, con todas sus posibles variantes y mutaciones, lo que podría llevarnos a pensar en algunos miles de afectados, de los que conocemos por ahora solo38 casos vivos.

Por eso trabajamos distintas líneas de actividad entre distintos públicos, buscando corregir esta situación.

Por ejemplo, fomentamos el apoyo de nuestros aliados naturales, los médicos, pero sobre todo, de las casas de altos estudios en medicina y ciencias de la salud, que son la base primaria de conocimiento, para llevar a cabo actividades, desde charlas específicas para especialistas, hasta la organización de un simposio sobre enfermedades raras, con especial acento en las lisosomales.

Llevamos a cabo charlas en organizaciones públicas y escuelas, para educar a padres y maestros, que son quienes muchas veces reconocen la situación, pero no siempre saben qué hacer o a quien acudir.

Hacemos lobby ante instituciones del estado, para lograr la cobertura de los tratamientos, así como con aseguradoras y otras entidades financieras. También buscamos que se levante un registro nacional de enfermedades que incluya un apartado especial para las enfermedades raras.

Promovemos legislación que proteja a los pacientes y sus familias y provea de los medios necesarios para la correcta aplicación de los tratamientos.

Buscamos organizaciones internacionales que nos apoyen consiguiendo tratamientos huérfanos.

Trabajamos con el Sistema de Ciencia y Tecnología para incluir la investigación de la enfermedades raras dentro de los presupuestos de I&D.

A la espera de su positiva respuesta en apoyo de los afectados de
enfermedades lisosomales, solo me resta saludar.

 

Este artículo ha sido escrito por Patricia Noemí Lucki (Vice Presidenta de ANGEL) como colaboración con Raras pero no invisibles. Podéis seguirlos en:  www.angel-lisosomal.org o escribirles a info@angel-lisosomal.org

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