Al menos 2 mil familias chilenas tienen a uno de sus miembros afectados por una enfermedad poco frecuente. Su situación es como la que se refleja en esta entrevista a Natalia, mamá de un niño afectado: poco conocimiento de estas enfermedades y por ello largo tiempo antes del diagnóstico y, sobre todo, efectos que golpean a una familia en todos los ámbitos de la vida.
Por Adriana Bastías
Cada 28 de febrero se conmemora el Día Nacional de la Educación y la Concientización de las enfermedades poco frecuentes, raras o huérfanas.
Las enfermedades poco frecuentes (EPOF) afectan a un número reducido de personas en una población determinada y muchas de ellas son genéticas, es decir, están relacionadas con la alteración de un gen, una unidad básica de la herencia. Nuestros genes contienen la información que nos transmiten nuestros padres y que determinan cómo somos, a quién nos parecemos, de qué color son nuestros ojos, etc.
Conversamos con Natalia Moraga, madre, dueña de casa, de profesión psicóloga, y que en la actualidad se dedica al cuidado de su hijo, Manuel Sáez Moraga, quien nació con una alteración genética en el cromosoma X. En términos técnicos, específicamente se ve afectado un gen llamado Mecp2, que codifica para la proteína 2 con dominio de unión a sitios de ADN específicos que están metilados (metil-CpG). Este gen está frecuentemente mutado en el síndrome de Rett, trastorno del neurodesarrollo que afecta principalmente a mujeres (1 de cada 10.000 a 15.000 mujeres nacidas vivas) y es considerado prácticamente letal en hombres. Pero Manuel es un caso único, no sólo en Chile sino también a nivel internacional, ya que no existen registros médicos de casos como el suyo. Natalia nos comenta que, si bien su condición se podría relacionar con el síndrome de Rett, desde lo clínico no se cuenta con los criterios diagnósticos para ser catalogado como tal.

Actualmente, Manuel tiene 6 años, y desde los 2 meses de vida se encuentra en permanente terapia con un grupo multidisciplinario de profesionales que incluye kinesiólogo, terapeuta ocupacional, fonoaudiólogo, neurólogo, genetista y fisiatra. Recibe atención de manera particular y además concurre al Instituto Teletón Santiago desde el año 2017, recibiendo apoyo de fisiatra, kinesiólogo y fonoaudiólogo, de manera intermitente.
Dada su condición y comorbilidad, presenta un retraso psicomotor global, una tetraparesia espástica, un tipo de parálisis que afecta a todo el cuerpo, lo que dificulta que pueda caminar, y generar movimientos de motricidad fina y gruesa. Natalia también nos comenta que “Manuel no habla, pero, sí logra comunicarse y expresar lo que desea y siente, por medio de propagandas que busca en el celular, pictograma e imágenes. Además de gritos…jajajaj”.

Además, Manuel tiene selectividad alimentaria, alteración sensorial global y autismo, limitando muchas de las actividades que pudiera realizar a nivel social, recreacional y por sobre todo alimenticio. Al llegar a los 5 años, se presentaron de manera marcada las crisis de ausencia, que son una forma de epilepsia, por lo que debe estar en tratamiento farmacológico que le ayuda a disminuirlas. También, manifiesta trastornos del sueño.
Esto ha generado que los padres de Manuel estén 100% enfocados en sus terapias y tratamientos que lo ayudan a tener una mejor calidad de vida, tanto ahora, como a futuro.
El caso de Manuel y su familia, que ocurre en la región de O’Higgins, es una realidad que la Federación de Enfermedades Poco Frecuentes en Chile estima que viven al menos otras dos mil familias en el país y que, diariamente, tiene impacto en lo emocional, económico, laboral, es decir, en todas las dimensiones de la vida de un grupo familiar.
Quisimos entrevistar a Natalia para visibilizar las enfermedades poco frecuentes en Chile, pero también un hecho frecuente: que la mayoría de quienes cuidan en Chile, son mujeres.
¿Qué es la Federación de Enfermedades Poco Frecuentes en Chile? ¿Quiénes la conforman?
La Fenpof es una federación sin fines de lucro y apolítica. Nace el año 2019 y está conformada por líderes de Agrupaciones, Asociaciones, Corporaciones y Fundaciones.
Su objetivo principal es visibilizar, concientizar y educar en relación con las enfermedades poco frecuentes, así como también influir en tomadores de decisiones, teniendo incidencia en políticas públicas en salud, educación y derechos humanos.
¿Por qué se conmemora el Día Nacional de la Educación y la Concientización de las Enfermedades Poco Frecuentes, raras o huérfanas?
El Día Internacional de las Enfermedades Poco Frecuentes, Raras o Huérfanas es un movimiento coordinado a nivel mundial, iniciado el año 2008 por EURORDIS, que tiene como objetivo conseguir la equidad en las oportunidades sociales, la atención médica y el acceso a diagnóstico y terapias para las personas que viven con una enfermedad poco frecuente.
El Día de las Enfermedades Poco Frecuentes, Raras o Huérfanas se celebra todos los años el 28 de febrero (o el 29 en años bisiestos), un día también excepcional que se presenta cada cuatro años..

En Chile, tras un trabajo sistemático, desarrollado por Fenpof con diferentes congresistas durante el año 2019 y 2020, se logra la promulgación en el diario oficial el día 17 de diciembre del mismo año, en donde según señala la Ley 21.292 “declaro que el último día de Febrero de cada año se conmemorará como un día tan importante para un universo no menor de la población chilena y el mundo entero, siguiendo así los lineamientos de Conmemoraciones Internacionales, que iluminen ese día edificios, torres, esculturas, monumentos emblemáticos o realizan actividades referentes a Enfermedades Poco Frecuentes, en adelante EPOF, y que llaman la atención con el objetivo de crear conciencia en la población nacional de cada país”
De esta manera es educar, visibilizar y concientizar a la población chilena.
(NdlR: EURORDIS es una alianza de 988 organizaciones de pacientes de 74 países que trabajan juntos para mejorar la vida de 30 millones de personas que viven con una enfermedad rara en Europa).
¿Existe algún catastro nacional de cuántas personas viven en Chile con una enfermedad rara?
Lamentablemente en Chile, por parte del Ministerio de Salud, no existe un catastro que dé cuenta del número especifico de personas que presenten una condición o enfermedad poco frecuente.
Investigadores en Chile y según datos probabilísticos tomados de Europa principalmente, se estima que alrededor de 1.300.000 mil personas podrían presentar una enfermedad o condición poco frecuente. Que nacería uno de cada 2000 personas con una condición o enfermedad poco frecuente. Por su parte serían aproximadamente 2.000 tipos de enfermedades o condiciones poco frecuentes existentes.
Así 300 millones de personas alrededor del mundo viven con una enfermedad poco frecuente.
¿Cuáles son las principales dificultades con las que se encuentran las familias que tienen un familiar con este diagnóstico?
Las principales dificultades radican en lo tardío del diagnóstico, ya que al inicio los médicos desconocen de qué se pueda tratar y muchas veces nunca se llega a saber qué condición o enfermedad presenta. Además, los exámenes en su mayoría se deben realizar en el extranjero, lo que no está cubierto por el sistema de salud. Exámenes que muchas veces se escapan a los recursos económicos de las familias. Por otra parte, son enfermedades que no presentan una cura, solo terapias que puedan ayudar a que los efectos a nivel físico, cognitivo, emocional no sean tan devastadores. Así, el acceso a terapias también se ve limitado a aspectos económicos, ya que, si son realizados o solicitados en sistemas de salud, existe una larga lista de espera, o las sesiones son muy distanciadas, lo que va en desmedro de los avances que se pudieran lograr.
Considero que la falta de redes de apoyo familiar y social se comienzan a empobrecer, lo que va afectando la salud mental de los cuidadores. Donde la mayoría de las veces, además, alguno debe dejar de trabajar para poder estar al cuidado, interfiriendo ello en los recursos económicos de las familias.
¿Cómo se identifica una enfermedad rara en Chile y qué nos podría hacer sospechar de su existencia?
Se identifica con profesionales altamente capacitados, con estudios específicos, y la existencia de investigación científica, centros de genética e innovación en medicina, presentes en Chile. Para ello se requieren recursos estatales y no solo de privados, que van generando un costo extra a las familias.
Como aún es un tema que se desconoce bastante, y donde los profesionales no están mayormente capacitados, se hace difícil el reconocer frente a que enfermedad o condición se está. Son los exámenes genéticos los que van dando luces de la alteración que puede existir, exámenes que deben ser en su mayoría realizados en el extranjero. Sucede que muchas veces se van entregando diferentes diagnósticos, dadas algunas características o síntomas que más destacan, no obstante, con el pasar del tiempo la persona no va avanzando en su tratamiento e incluso empeora, lo que da cuenta del error de diagnóstico y manera de tratar.
Puedo decir que a los padres o el cuidador de una persona que pudiera presentar síntomas de alguna enfermedad, se lo va diciendo su instinto, el estar presente y conocer a la persona que cuida. Acá el amor de madre y padre son fundamentales, por lo menos en el caso de nosotros.
¿Qué necesitan las familias para afrontar una enfermedad como esta?

Encontrarse en el camino con un profesional, del sistema público, sobre todo, que sepa de enfermedades poco frecuentes, empático, comprometido, que hable directamente con la familia y con la verdad y además sea capaz de educar y por supuesto la familia querer educarse y saber más.
Además de agrupaciones o fundaciones donde se comparta la misma experiencia o por lo menos similar, así podrán sentir que no están solos en este camino. Por supuesto los recursos económicos estables para entregar la mejor calidad de vida por medio de las terapias permanentes.
Sabemos que no existía una Teletón en la región de O’Higgins. Con su instalación ¿cómo cambia la realidad de las familias con un niño/a con una enfermedad poco frecuente?
Eso es muy variable, ya que no todos los niños, niñas, adolescentes son candidatos para entrar al Instituto Teletón, por lo mismo la importancia que desde el sistema de salud pública estén lo recursos para las personas que tienen una Epof. Teletón se enfoca más en temas de rehabilitación, pero qué pasa por ejemplo con alguien que sí pueda caminar, que sí hable pero que presente más un autismo. O las mismas niñas con síndrome de Rett, que no requieren una rehabilitación motora, tienden a quedar fuera del sistema Teletón. Y es ahí donde la familia completa queda desamparada.
No obstante, el que en la región se instale una Teletón ayuda en tiempo, accesibilidad y recursos económicos a las familias.
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