{"id":55444,"date":"2024-10-02T16:18:54","date_gmt":"2024-10-02T20:18:54","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/02\/el-viaje-de-los-talbott-con-el-sindrome-de-duplicacion-1q21-1\/"},"modified":"2024-10-02T16:18:54","modified_gmt":"2024-10-02T20:18:54","slug":"el-viaje-de-los-talbott-con-el-sindrome-de-duplicacion-1q21-1","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/es\/2024\/10\/02\/el-viaje-de-los-talbott-con-el-sindrome-de-duplicacion-1q21-1\/","title":{"rendered":"El viaje de los Talbott con el s\u00edndrome de duplicaci\u00f3n 1q21.1"},"content":{"rendered":"<h3>\u00bfC\u00f3mo es su familia?<\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: a mom, a dad and a boy with Atrx pathology\">Tenemos una familia numerosa.<br \/>\nTengo 5 hijos, 3 de los cuales tienen la duplicaci\u00f3n. <\/p>\n<h3 class=\"p1\"><b>\u00bfQu\u00e9 hace para divertirse?<\/b><\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: Taking care of my little boy, making him play, making him laugh, helping him progress, cuddling him Take care of myself\">Jugamos al aire libre, vamos de vacaciones, a parques, a nadar, etc.<\/p>\n<h3 class=\"p1\"><b>H\u00e1blenos de la mayor dificultad a la que se enfrenta.<\/b><\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: His illness. His pathology prevents him from having a normal quality of life. His fragility caused by pharyngitis prevents him from enjoying the outdoors except when the weather is very nice. His low muscle tone prevents him from running in the garden When he is sick, he decompensates too quickly.\">Tener tres hijos con la duplicaci\u00f3n y estar inseguro sobre lo que depara el futuro debido a la falta de informaci\u00f3n sobre la duplicaci\u00f3n.<\/p>\n<h3 class=\"p1\"><b><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-15198 size-medium alignleft\" src=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-300x300.png\" alt=\"\" width=\"300\" height=\"300\" srcset=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-300x300.png 300w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-1024x1024.png 1024w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-150x150.png 150w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-768x768.png 768w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-1536x1536.png 1536w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092307\/PEOPLE_scientists-fem-laptop-2048x2048.png 2048w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/b><\/h3>\n<h3 class=\"p1\"><b>\u00bfQu\u00e9 influye en que participes o no en la investigaci\u00f3n? \u00bfEn qu\u00e9 le ha ayudado participar en la investigaci\u00f3n?<\/b><\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: In every illness, the patient hopes for a cure. It\u2019s the same logic for Atrx syndrome. Genetic research can and must move forward.\">A\u00fan no he encontrado ning\u00fan estudio de investigaci\u00f3n para la duplicaci\u00f3n, si lo encontrara, sin duda estar\u00eda dispuesta a participar.<\/p>\n<h3 class=\"p1\"><b>\u00bfQu\u00e9 pregunta le gustar\u00eda que los investigadores pudieran responder sobre este cambio gen\u00e9tico?<\/b><\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: I would like to know the origin of the hypotonia. I would like to know the causes of the different muscular problems (feet turned inwards, contractures on the fingers of the hands) I would like to know why the syndrome develops differently in some people, even within the same siblings. I would like to know if the Atrx syndrome can be compared to the genetic research of another syndrome (we often find the same consequences: low tone and non-verbal) or of another neurological disease which experiences deficiencies with the white matter of the brain . I would like to know how we recognize that this pathology will cause serious consequences in children (role of amino acids which are reversed, the location of the mutation, etc.) I would like to know the cause of my son's skeletal development Atrx I would like to know why many Atrx children do not assimilate iron and is there a link with their often cold hands after meals? I would like to know why many Atrx children have mouth breathing. I would like to know why Atrx children have sleep apnea I would like to know if Atrx has a link with the child's immune system.\">\u00bfQu\u00e9 les depara el futuro a los ni\u00f1os y adultos con la duplicaci\u00f3n?<\/p>\n<h3 class=\"p1\"><b>\u00bfQu\u00e9 ha aprendido de otras familias sobre su enfermedad gen\u00e9tica o la de su hijo?<\/b><\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: We are all in the same fight: to improve the conditions of our children. Atrx affects children more or less hard. We often find muscular problems, shifty eyes, lack of speech, myclonia and even ears that turn red at the slightest ray of sunlight.\">He aprendido que puede haber muchas complicaciones derivadas de la duplicaci\u00f3n.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-15175 size-medium alignright\" src=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-300x300.png\" alt=\"\" width=\"300\" height=\"300\" srcset=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-300x300.png 300w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-1024x1024.png 1024w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-150x150.png 150w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-768x768.png 768w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-1536x1536.png 1536w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-2048x2048.png 2048w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/p>\n<h3 class=\"p1\"><b>Si pudiera dar un consejo a alguien a quien le hayan diagnosticado recientemente el cambio gen\u00e9tico en su familia, \u00bfcu\u00e1l ser\u00eda?<\/b><\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: To vericalize the child as soon as possible.\">Aguanta, busca grupos con otras personas que est\u00e9n pasando por lo mismo.<\/p>\n<h3>\u00bfC\u00f3mo ha servido <span class=\"notranslate\">Simons Searchlight<\/span> de recurso para ti y tu familia?<\/h3>\n<p id=\"tw-target-text\" class=\"tw-data-text tw-text-large tw-ta\" dir=\"ltr\" data-placeholder=\"Translation\" data-ved=\"2ahUKEwi7_uic88-IAxX0kYkEHTnwJWkQ3ewLegQICBAU\" aria-label=\"Translated text: By giving hope in this long journey\">\u00a1Acabo de encontrar <span class=\"notranslate\">Simons Searchlight<\/span>!<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Descubre la inspiradora historia de los Talbott.<\/p>\n","protected":false},"author":28,"featured_media":17400,"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":[96],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts\/55444"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/comments?post=55444"}],"version-history":[{"count":0,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/posts\/55444\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media\/17400"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/media?parent=55444"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/categories?post=55444"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/es\/wp-json\/wp\/v2\/tags?post=55444"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}