{"id":11513,"date":"2021-12-28T13:31:01","date_gmt":"2021-12-28T18:31:01","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=11513"},"modified":"2022-01-04T13:25:25","modified_gmt":"2022-01-04T18:25:25","slug":"zorannis-story","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/irf2bpl\/zorannis-story\/","title":{"rendered":"Zoranni’s Story"},"content":{"rendered":"\n

By: Nacarit, Parent of Zoranni, a 17 year old with an IRF2BPL genetic change<\/h3>\n\n\n\n

“…hay que tener mucha paciencia ya que en ocasiones el ver el retroceso puede causarnos frustraci\u00f3n y eso se lo transmitimos a los ni\u00f1os…”<\/em><\/p>\n\n\n\n

\"\"<\/figure><\/div>\n\n\n\n

What is your family like?<\/h3>\n\n\n\n

Mi familia comienza en el 2004 con el nacimiento de mi hija Zoranni, quien naci\u00f3 en Venezuela y sus primeros meses de vida tuvieron un desarrollo normal. Camino a los 15 meses y es hasta los 2 a\u00f1os cuando se observa que no puede hablar claramente.<\/p>\n\n\n\n

My family began in 2004 with the birth of my daughter Zoranni, who was born in Venezuela and had a normal development in her first few months of life. She walked at 15 months and it wasn’t until she was 2 years that we realized she could not speak clearly.<\/p>\n\n\n\n

What do you do for fun?<\/h3>\n\n\n\n

Desde que Zoranni dej\u00f3 de caminar en el 2019 solo vamos en ocasiones a Centros comerciales a pasear a los parques.<\/p>\n\n\n\n

Since Zoranni stopped walking in 2019, we only occasionally go to shopping malls to walk to the parks.<\/p>\n\n\n\n

Tell us about the biggest hardship you face.<\/h3>\n\n\n\n

1) No poder caminar.
2) Debido a la debilidad en sus manos no puede comer por si sola.
3) Se le hace dif\u00edcil comer carne o comida.
4) Ya casi no habla, es dif\u00edcil entender lo que quiere decir.
5) A la hora de ba\u00f1arla es complicado debido a la debilidad y la falta de control en sus piernas.
6) Constantemente sufre de estre\u00f1imiento.<\/p>\n\n\n\n

1) Not being able to walk.
2) Due to having weak hands, she cannot eat on her own.
3) She finds it difficult to eat meat or food.
4) She hardly speaks anymore so it is difficult to understand what she means.
5) Bathing her is difficult due to the weakness and lack of control in her legs.
6) She constantly suffers from constipation.<\/p>\n\n\n\n

What is one question you wish researchers could answer about this genetic change?<\/h3>\n\n\n\n

\u00bfPor que no todos los casos de los ni\u00f1os con IRF2BPL No son iguales?
\u00bfPor que cada persona est\u00e1 desarrollando s\u00edntomas diferentes?<\/p>\n\n\n\n

Why aren’t all cases of children with IRF2BPL the same?
Why does each person develop different symptoms?<\/p>\n\n\n\n

<\/p>\n\n\n\n

What have you learned about your or your child’s genetic condition from other families?<\/h3>\n\n\n\n

Trato de ver lo que est\u00e1n haciendo otros padres para mejorar la calidad de vida de sus hijos.
En mi caso es muy dif\u00edcil realizar preguntas porque no manejo el ingl\u00e9s 100%.<\/p>\n\n\n\n

I try to see what other parents are doing to improve their children’s quality of life.
In my case it is very difficult to ask questions because I do not speak English 100%.<\/p>\n\n\n\n

<\/p>\n\n\n\n

If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?<\/h3>\n\n\n\n

Le dir\u00eda qu\u00e9 hay que tener mucha paciencia ya que en ocasiones el ver el retroceso puede causarnos frustraci\u00f3n y eso se lo transmitimos a los ni\u00f1os. Que es importante mantenerse en un grupo para hacer preguntas sobre alg\u00fan tratamiento que le est\u00e9n realizando a su hijo.<\/p>\n\n\n\n

I would tell you that you have to be very patient since sometimes seeing the setback can cause frustration and we transmit that to the children. That it is important to stay in a group to ask questions about a treatment that your child is receiving.<\/p>\n\n\n\n

<\/p>\n\n\n\n

English responses translated using Google.<\/p>\n","protected":false},"excerpt":{"rendered":"

By: Nacarit, Parent of Zoranni, a 17 year old with an IRF2BPL genetic change “…hay que tener mucha paciencia ya que en ocasiones el ver el retroceso puede causarnos frustraci\u00f3n y eso se lo transmitimos a los ni\u00f1os…” What is your family like? Mi familia comienza en el 2004 con el nacimiento de mi hija […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":9043,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/11513"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=11513"}],"version-history":[{"count":4,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/11513\/revisions"}],"predecessor-version":[{"id":11529,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/11513\/revisions\/11529"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/9043"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=11513"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}