{"id":55447,"date":"2024-10-02T16:18:54","date_gmt":"2024-10-02T20:18:54","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/02\/il-viaggio-dei-talbott-con-la-sindrome-da-duplicazione-1q21-1\/"},"modified":"2024-10-02T16:18:54","modified_gmt":"2024-10-02T20:18:54","slug":"il-viaggio-dei-talbott-con-la-sindrome-da-duplicazione-1q21-1","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/it\/2024\/10\/02\/il-viaggio-dei-talbott-con-la-sindrome-da-duplicazione-1q21-1\/","title":{"rendered":"Il viaggio dei Talbott con la sindrome da duplicazione 1q21.1"},"content":{"rendered":"<h3>Com&#8217;\u00e8 la vostra famiglia?<\/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\">La nostra \u00e8 una famiglia numerosa.<br \/>\nHo 5 figli, 3 dei quali hanno la duplicazione. <\/p>\n<h3 class=\"p1\"><b>Cosa fate per divertirvi?<\/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\">Giochiamo all&#8217;aperto, andiamo in vacanza, nei parchi, in piscina, ecc.<\/p>\n<h3 class=\"p1\"><b>Ci parli della difficolt\u00e0 pi\u00f9 grande che deve affrontare.<\/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.\">Avere tre figli con la duplicazione e non essere sicuri di cosa ci riservi il futuro a causa della mancanza di informazioni sulla duplicazione.<\/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>Cosa influisce sulla tua decisione di partecipare o meno alla ricerca? In che modo la partecipazione alla ricerca \u00e8 stata utile per lei?<\/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.\">Non ho ancora trovato alcuno studio di ricerca sulla duplicazione, ma se lo trovassi sarei sicuramente disposto a partecipare.<\/p>\n<h3 class=\"p1\"><b>Qual \u00e8 la domanda a cui vorresti che i ricercatori potessero rispondere su questo cambiamento genetico?<\/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.\">Cosa riserva il futuro ai bambini e agli adulti con la duplicazione?<\/p>\n<h3 class=\"p1\"><b>Che cosa avete appreso da altre famiglie riguardo alla condizione genetica vostra o di vostro figlio?<\/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.\">Ho imparato che ci sono molte complicazioni che possono derivare dalla duplicazione.<\/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>Se potesse dare un consiglio a qualcuno a cui \u00e8 stata recentemente diagnosticata un&#8217;alterazione genetica nella sua famiglia, quale sarebbe?<\/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.\">Tieni duro, cerca gruppi con altre persone che stanno vivendo la stessa esperienza.<\/p>\n<h3>In che modo <span class=\"notranslate\">Simons Searchlight<\/span> \u00e8 stata una risorsa per te e la tua famiglia?<\/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\">Ho appena trovato <span class=\"notranslate\">Simons Searchlight<\/span>!<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Scopri la storia ispiratrice dei Talbott.<\/p>\n","protected":false},"author":28,"featured_media":49292,"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":[536],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/posts\/55447"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/comments?post=55447"}],"version-history":[{"count":0,"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/posts\/55447\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/media\/49292"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/media?parent=55447"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/categories?post=55447"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/it\/wp-json\/wp\/v2\/tags?post=55447"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}