{"id":60253,"date":"2025-03-03T12:45:48","date_gmt":"2025-03-03T17:45:48","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?p=60253"},"modified":"2025-03-19T17:01:29","modified_gmt":"2025-03-19T21:01:29","slug":"hannahs-story-living-with-kdm3b","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/2025\/03\/03\/hannahs-story-living-with-kdm3b\/","title":{"rendered":"The Silva-Puyos’ Journey with KDM3B"},"content":{"rendered":"

The responses below were originally written in Spanish and translated using a third party service.<\/em><\/p>\n

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

We are a Colombian Military family of 4, my husband’s name is Jaime Jos\u00e9 Silva, I am Jackeline Puyo, Samara Lorena Silva Puyo, 15 years old, and Hannah Isabel Silva Puyo, 12 years old, with Diets Jongmans syndrome (KDM3B-related syndrome).<\/span><\/p>\n

Somos una familia Militar Colombiana de 4, mi esposo se llama Jaime Jos\u00e9 Silva, yo soy Jackeline Puyo, Samara Lorena Silva Puyo de 15 a\u00f1os y Hannah Isabel Silva Puyo de 12 a\u00f1os con el s\u00edndrome de Diets Jongmans KDM3B.<\/em><\/p>\n

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

We like to travel, see places in our country, go to the movies with the girls, and play in the park together.<\/span><\/p>\n

Nos gusta viajar, conocer sitios de nuestro pa\u00eds, ir a cine con las ni\u00f1as, jugar en el parque los 4.<\/em><\/p>\n

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

Not being able to learn about Hannah’s syndrome, since there are no records of the disease in my country, and seeing that my daughter’s physical condition is becoming more affected every day, and not being able to provide her with the help she needs.<\/span><\/p>\n

No poder tener conocimiento del s\u00edndrome de ni hija Hannah, ya que en mi pa\u00eds no hay registros de la enfermedad, y ver que cada d\u00eda mi ni\u00f1a sale m\u00e1s afectada en su condici\u00f3n f\u00edsica y no poder brindarle la ayuda que necesita.\u00a0<\/em><\/p>\n

\"\"<\/b><\/h3>\n

What motivates you to participate in research? How has participating in research been helpful for you?<\/b><\/h3>\n

Hoping to participate in this research with you and thus gain more knowledge about this genetic condition.<\/p>\n

Esperando poder participar est\u00e1 est\u00e1 investigaci\u00f3n con ustedes y as\u00ed poder tener m\u00e1s conocimientos a cerca de esta condici\u00f3n gen\u00e9tica.<\/em><\/p>\n

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

I want to know in the future how this genetic syndrome can affect my daughter and be able to provide my daughter with a better quality of life.<\/p>\n

Quiero saber a un futuro como este s\u00edndrome gen\u00e9tico puede afectar a mi hija y poder brindarle una mejor calidad de vida a mi ni\u00f1a.<\/em><\/p>\n

What have you learned about your or your child\u2019s genetic condition from other families?<\/b><\/h3>\n

With my daughter, I’ve learned that nothing is impossible for God, and that thanks to Him, we’ve been able to move forward with Hannah despite not having any knowledge of the disease in a country where no medical center has information.<\/p>\n

Con mi hija he podido aprender que nada es imposible para Dios, que gracias a El hemos podido seguir adelante con Hannah a pesar de no contar con el conocimiento de la enfermedad en un pa\u00eds donde ning\u00fan centro m\u00e9dico tiene informaci\u00f3n.<\/em><\/p>\n

\"\"<\/p>\n

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

Don’t lose hope, there’s always a light at the end of the tunnel, and there are more families going through the same situation and they’ll never be alone. If we can ever meet and help each other, I’ll be happy to support them.<\/p>\n

Que no pierdan la esperanza, que siempre hay una luz al final del t\u00fanel, y que habemos m\u00e1s familias pasando por la misma situaci\u00f3n y que nunca van a estar solos y si nos podemos alg\u00fan d\u00eda encontrar y brindarnos ayuda mutua con mucho gusto estar\u00e9 ah\u00ed para apoyarlos.<\/em><\/p>\n

How has Simons Searchlight<\/span> served as a resource for you and your family?<\/h3>\n

I am new to you at the moment and I hope to be able to participate in the study of Diets Jongmans (KDM3B-related syndrome).<\/p>\n

Por el momento soy nueva con ustedes y espero poder participar en el estudio del s\u00edndrome Diets Jongmans KDM3B.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Discover the inspiring story of the Silva-Puyos.<\/p>\n","protected":false},"author":28,"featured_media":60254,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":""},"categories":[16],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/60253"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=60253"}],"version-history":[{"count":4,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/60253\/revisions"}],"predecessor-version":[{"id":60270,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/60253\/revisions\/60270"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media\/60254"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=60253"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/categories?post=60253"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/tags?post=60253"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}