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KIKO Y UN SÍNDROME LLAMADO COFFIN-LOWRY

El síndrome Coffin-Lowry (SCL) es un trastorno genético ligado al cromosoma X, causado por mutaciones en el gen RPS6KA3.

Este trastorno genético y neurológico se caracteriza por retraso psicomotor y del crecimiento, dismorfismo facial, anomalías en los dígitos y cambios esquelético progresivos.

Alrededor del 70-80% de los casos no hay antecedentes familiares, son esporádicos (novos), mientras que el 20-30% tiene más de un miembro afectado en la familia siendo las mujeres portadoras.

La afectación clínica es muy variable en severidad, siendo los varones más afectados que las mujeres.

La incidencia se estima de 1/50.000 a 1/100.000.

Las características faciales son distintivas: frente ancha, hipertelorismo (mayor distancia de lo normal entre las pupilas de los ojos), abertura de los párpados estrecha y se inclina hacia abajo (sesgo anti-mongoloide), tabique nasal espeso y nariz ancha, labios evertidos ( boca grande con labios carnosos), orejas de implantación baja y grandes.

Se puede observar otra característica física en el tórax denominada pectus excavatum, y las manos de los dedos en forma de baqueta. El conjunto de características faciales hacen que las personas con SCL tiendan a parecerse como si fueran hermanos, como pasa en otros síndromes conocidos.

Para una información más detallada existe una fundación: SÍNDROME COFFIN-LOWRY FUNDATION.

 

Kilo es un niño que tiene ahora 13 años. Hace 8 meses fue diagnosticado con el síndrome Coffin-Lowry, un diagnóstico muy tardío.

KIKO1

Kilo nación con retraso psicomotor, hipotonía y reflujo-esogástrico. Le hicieron muchas pruebas médicas y nunca le pusieron nombre a lo que tenía, tan solo recibimos un diagnóstico de Leucodistrofia. Con fisioterapia y estimulación temprana tuvo una infancia como cualquier otro niño, pudo andar, correr, ir al parque y disfrutar de los columpios, toboganes, etc… con alguna dificultad motora, pero cada vez adquiría más autonomía en su vida cotidiana.

Alrededor de los 10 años y medio una caída fortuita, con una brecha de 10 puntos es lo que hace que su vida y nuestra vida empiece a cambiar, las caídas son cada vez más frecuentes y ya no creemos que sean fortuitas, pero no encontramos una explicación.

Coincide también que la columna se empieza a desviar (cifo-escoliosis) de progresión muy agresiva y se agravan sus problemas neurológicos al crecer un quiste aracnoideo supraselar y provocar hidrocefalia.

Esa es la explicación que nos dan a las caídas. Se le opera la cabeza, se sigue cayendo, se le corrige quirúrgicamente la cifo-esclerosis, se sigue cayendo…

Iniciamos un peregrinar por diversos hospitales y médicos para dar con una solución a los problemas que conlleva que un niño se caiga continuamente. Ya habíamos observado que en algunas ocasiones el desencadenante era un estímulo (un susto lo llamábamos nosotros). Conseguimos las pruebas genéticas y una medicina estándar que reduce las caídas.

Ahora después de trece años ya sabemos el porqué, el Síndrome de Coffin-Lowry.

Su vida y la nuestra han cambiado radicalmente, ya no puede correr, no puede caminar solo, no puede jugar, no es autónomo para el aseo y para muchas cosas de la vida cotidiana, de momento no puede ir al colegio porque ha tenido que pasar por otras tres operaciones más de la columna muy complicadas, y necesita actualmente muchos cuidados. Ha perdido dos cursos escolares. Las continuas operaciones, el cambio radical de vida le han llevado a estar deprimido e incluso perdió hasta el pelo (alopecia areata). Ahora  va a ser dependiente de una persona siempre o dos para caminar, y su vida, sin duda, no volverá a ser la misma.KIKO2

En un futuro nuestro objetivo sería formar en España una asociación del síndrome Coffin-Lowry, puesto que no existe como tal. La finalidad es de apoyo y orientación a las familias. Asesorar y promocionar la investigación del SCL para conseguir una repercusión sanitaria, educativa, social y científica, mejorando así la calidad de vida y futuro de los afectados con este síndrome.

En la Universidad de Illinois (Chicago), se está llevando a cabo un estudio multicéntrico sobre la historia de las deformidades de la columna con pacientes del síndrome (SCL). El Hospital de la Paz, el departamento de genética, ha iniciado el contacto para colaborar con ellos ante nuestra insistencia en recibir información de los problemas de columna relacionados con este síndrome.

No es suficiente la investigación que se está realizando, no existe un tratamiento específico. Esa es la sensación que nosotros tenemos y la que nos han dado. Una cosa curiosa es que la mayoría de los médicos especialistas que tiene que tratar a nuestro hijo desconocen este síndrome, pero tienen que tratarle de algo que desconocen y en ocasiones somos nosotros los que tenemos que informar de las características, síntomas, etc…

A las autoridades sanitarias les demandamos un diagnóstico precoz y un protocolo más elaborado de actuación.

Una de las principales carencias en el Sistema Sanitario Nacional de Salud es la falta de coordinación entre especialistas médicos, la mayoría de las veces es la familia la que cuenta de uno a otro lo que sucede, y en algunos casos, deberían hablar entre ellos y coordinarse, se evitarían pruebas innecesarias y se llegaría antes a un diagnóstico.

En educación también tiene muchas carencias, falta mucho personal y los niños con los que no se sabe que hacer se les invita a marcharse del sistema educativo normalizado, para pasar a una educación especial masificada, (muchos niños, pocos centros, carencia de personal).

A kilo se le subestimo por debajo de sus capacidades reales puesto que tiene mejor comprensión verbal que expresión oral. También está reconocido como dependiente pero no recibimos la prestación por ley que nos corresponde.

Este artículo ha sido escrito por Rocío Chisvert Alvarez como colaboración con Raras pero no invisibles.

730 pensamientos sobre “KIKO Y UN SÍNDROME LLAMADO COFFIN-LOWRY”

  1. Rocio…te faltan más características…;-) Valientes, luchadoras, generosas y especiales. Así son estas personas y las que van caminando a su lado.

  2. hola soy romina mis tres hijos tienen sindrome d coffing lowry tambien soy d argentina vivo en buenos aires y mi hijo mayor adrian tubo hidrocefalicia e hidrocels pero grasias a dios el likido q tubo en el cebrero y d los testiculos se fueron solos el del medio fabrizio tiene 3 y aparte del sindrome tiene insufiencia mitral y dante q es mi ultimo hijo de 1 tiene trastorno mandibulo facial y sta cn sonda naso gastrica si queres y tenes facebook agregame buscame x romina narvaja xq yo quisiera estar en cntacto cn flias q tngas hijos cn la misma enfermedad muchas fuerzas y cariños

      1. Hola mi nombre es Ximena soy de chile
        Ya hace 4 años que soy madre y hace casi 2 años aprox que estoy enterada del sindrome de mi hijo aqui en chile no es conocido el sindrome y casi lo estudian con libros me gustaria tener contacto con usted y que me pueda contar de que mas o menos se trata el sindrome ya que a mis cortos 22 años no entiendo mucho espero me pueda responder saludos

  3. Rocio, soy toni el padre de un niño de 10 años que padece SCL vivimos en valencia y nuestro caso es muy parecido al tuyo, con el agravante de que jorge que es mi hijo, lleva un implante coclear, y tambien sufre numerosas caìdas, hasta es punto que no sabe andar solo, siempre cogido de la mano, y los mèdicos no saben a que es debido a pesar de las innumerables pruebas que le estàn haciendo, me gustarìa poder contactar contigo ya que no conocemos ningun caso en nuestra ciudad, y como bien dices somos las familias las que nos debemos apoyar y comunicar para compartir experiencias y buscar juntos lo mejor para el futuro de nuestro hijos. un saludo.

    1. Hola mi nombre es Ximena soy de chile
      Ya hace 4 años que soy madre y hace casi 2 años aprox que estoy enterada del sindrome de mi hijo aqui en chile no es conocido el sindrome y casi lo estudian con libros me gustaria tener contacto con usted y que me pueda contar de que mas o menos se trata el sindrome ya que a mis cortos 22 años no entiendo mucho espero me pueda responder saludos

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