A nivel mundial, se estima que el síndrome de Rett afecta a 1 persona por cada 10.000/15.000 nacimientos. En la región de O’Higgins existen casos, y en esta oportunidad conversamos con María Gabriela González García, mamá de Amanda Lucía Gómez González, de 4 años, quien fue diagnosticada y que vive, junto a su familia, en la ciudad de Rancagua.
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El mes de octubre es el mes internacional de la concientización sobre el síndrome de Rett, trastorno genético neurológico y de desarrollo poco frecuente, que afecta principalmente a niñas y que provoca una pérdida progresiva de las capacidades motoras y del habla. Fue en el mes de octubre de 1999 cuando la Dra. Huda Yahya Zoghbi logró identificar mutaciones del gen MECP2 (gen que codifica para la proteína 2 de unión a metilCpG y se encuentra en el cromosoma X) como responsable del síndrome de Rett.
A nivel mundial, se estima que el síndrome de Rett afecta a 1 persona por cada 10.000/15.000 nacimientos. En la región de O’Higgins existen casos, y en esta oportunidad conversamos con María Gabriela González García, mamá de Amanda Lucía Gómez González, de 4 años, quien fue diagnosticada con síndrome de Rett y que vive, junto a su familia, en la ciudad de Rancagua. Con María Gabriela conversamos sobre la realidad regional de tener un familiar con síndrome de Rett.
¿Nos podría contar sobre Amanda y como se dieron cuenta que ella tenía síndrome de Rett?
Amanda es una niña muy feliz y amada por toda nuestra familia, asiste a un centro educativo integral donde imparten educación especial para niños con alguna discapacidad; también, asiste a diferentes terapias como kinesiología, fonoaudiología y terapia ocupacional, que le ayudan a mejorar su calidad de vida y así transcurre su día a día entre sus terapias y su colegio. Al nacer Amanda, luego de varios meses, empecé a notar que su desarrollo psicomotor no era normal: no lograba sentarse por sí sola ni gatear, allí supe que algo no andaba bien en ella. Luego, a los 18 meses empezó con la *estereotipia mano-boca, a pesar de ya presentar este signo tan característico del Rett, asistimos a muchos neurólogos sin una respuesta concreta sobre qué le sucedía. La falta de información en el personal médico es vital; en el país, el síndrome de Rett es poco conocido y allí empezó el calvario del diagnóstico. Para nosotros fue muy difícil, ya que acudimos a muchos especialistas sin obtener ninguna respuesta precisa, fue luego de transcurrir 2 años que obtuvimos el diagnóstico genético positivo para síndrome de Rett.
*Estereotipia: movimiento o postura repetitiva sin un fin determinado.
¿Dónde se atiende actualmente Amanda?
Amanda se atiende de manera particular; adicionalmente, también, asiste al Instituto Teletón Santiago, donde recibe atención de fisiatra, terapeuta ocupacional y fonoaudiólogo de manera intermitente.
¿Qué le diría a otra madre o padre que sospecha que su hij@ tiene alguna enfermedad genética o síndrome?
Todos los padres deben estar alertas al desarrollo psicomotor de sus bebés desde el nacimiento, el cumplimiento de los hitos del desarrollo es clave para la sospecha de que algo no está bien en sus hijos. No duden en buscar ayuda y orientación médica, porque es fundamental la atención y el diagnóstico oportuno para el bienestar y calidad de vida de cualquier niño que presente alguna discapacidad o enfermedad genética, ya que el inicio temprano de las terapias correspondientes puede marcar la diferencia en todos los aspectos de su vida.
A nivel estatal, ¿Qué apoyo necesitan como cuidadoras/es?
Cuidar es un trabajo que, hasta hoy, no es reconocido; no entramos en la categoría de trabajadoras. Considero que necesitamos un sistema de seguridad social, es decir, tener el beneficio de pensiones o ayudas sociales por parte del estado. En mi caso particular, soy químico farmacéutico y desde que cuido a mi pequeña no he podido trabajar más de forma remunerada, ya que, por las posibles ausencias por enfermedad o terapias, aunado a los permisos inesperados no hay empleador que actualmente acepte, quedando mi esposo a cargo de todos los gastos y hoy en día, debido al alto costo de la vida y, en especial, tener un hij@ con discapacidad, un solo salario no es suficiente en un hogar. El ser cuidador de una persona dependiente conlleva una sobrecarga física, psicológica y económicamente mayor. Es por ello que considero que deberían implementar casas de descanso para que los padres cuidadores puedan hacer una pausa, aunque sea de solo unas horas del arduo trabajo que exige.
¿Cuál es el panorama que Uds. como familias enfrentan a nivel regional?
Considero que, para facilitar el día a día a las familias de personas con discapacidad en la región, se debería construir un Instituto Teletón acá; sería de gran beneficio para muchas familias, ya que hay un gran porcentaje de usuarios en la región de O’Higgins. Para algunas personas el traslado a Santiago es muy difícil por diversos motivos, entre los cuales podría mencionar económicos, el costo que implica esto y, también, el tema de trabajo: los permisos de trabajo tan frecuentes, ya que trasladarse hasta allá implica medio día o hasta un día completo de permiso laboral. Por tanto, eso afecta la calidad de vida de nuestr@s hij@s, al tener que faltar a una sesión de terapia tan necesaria para ellos.
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