Nahiara... el amor en persona

By Claudia, Williams syndrome, Argentina, February 24, 2021

Hagamos visible las enfermedades raras...

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste Síndrome,  Nahiara tiene estenosis supravalbular aortica leve, gracias a Dios no necesito nunca cirugía, si sufrió mucho sintomas a nivel gastrointestinales, tuvo una cirugía de recto, por tener ano anterior. Sufre de hipoglucemias cetocicas por ayunos prolongados, los cuales siempre requieren de internacion para corregir su glucemia. Hipotiroidismo, por lo cual ya está medicada y un retraso en la parte psicomotora, debido a la hipótesis que caracteriza a este síndrome, pero dia a dia vamos mejorando y ella pone todo para eso. Su parte lingüística también está en desarrollo, aún no logra sostener un discurso, cuesta mucho mantener una actividad prolongada y sentada! Jaja.... es muy inquieta, es muy dulce, muy alegre, siempre feliz, tiene sus berrinches obviamente también propios de la edad. No tiene tolerancia al fracaso... enseguida se frustra pero bueno... con las terapias iremos resolviendo todas esas cositas que aun faltan madurar. ACABARLA y cantar, la afinidad que tienw con la música es sorprendente!!! Si bien no se entiende mucho , a veces,  cuando canta, descubris inmediatamente que es lonque canta ya que la melodía la sabe a la perfección, tiene mucha memoria visual. El desafío más importante con Nahiara y más costoso, es COMER!!!! es hiperselectiva con la comida y come muy poca cantidad....Nosotros como papas estamos para apoyarla y ayudar a que sea lo más independiente posible.  Es nuestra alegría al alma

 

*Find others with Williams syndrome on RareConnect, the online platform for people affected by rare diseases

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Nahiara... el amor en persona

Claudia, Williams syndrome, Argentina, February 24, 2021

Mi nombre es Claudia, mamá de Nahiara,  ella fue diagnosticada a los 7 meses de edad con Síndrome de Williams, una detección en el cromosoma 7q11.23. Dentro de las características principales de éste ...

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