{"id":55445,"date":"2024-10-02T16:18:54","date_gmt":"2024-10-02T20:18:54","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/02\/die-reise-der-talbotts-mit-dem-1q21-1-duplikationssyndrom\/"},"modified":"2024-10-02T16:18:54","modified_gmt":"2024-10-02T20:18:54","slug":"die-reise-der-talbotts-mit-dem-1q21-1-duplikationssyndrom","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/de\/2024\/10\/02\/die-reise-der-talbotts-mit-dem-1q21-1-duplikationssyndrom\/","title":{"rendered":"Die Reise der Talbotts mit dem 1q21.1 Duplikationssyndrom"},"content":{"rendered":"<h3>Wie sieht Ihre Familie aus?<\/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\">Wir haben eine gro\u00dfe Familie.<br \/>\nIch habe 5 Kinder, von denen 3 die Verdoppelung haben. <\/p>\n<h3 class=\"p1\"><b>Was machen Sie zum Spa\u00df?<\/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\">Wir spielen drau\u00dfen, fahren in den Urlaub, in Parks, zum Schwimmen, usw.<\/p>\n<h3 class=\"p1\"><b>Erz\u00e4hlen Sie uns von der gr\u00f6\u00dften Schwierigkeit, der Sie gegen\u00fcberstehen.<\/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.\">Ich habe drei Kinder mit der Duplikation und bin unsicher, was die Zukunft bringt, weil es keine Informationen \u00fcber die Duplikation gibt.<\/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>Was beeinflusst Ihre Entscheidung f\u00fcr oder gegen eine Teilnahme an der Forschung? Wie hat sich die Teilnahme an der Forschung f\u00fcr Sie ausgewirkt?<\/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.\">Ich habe noch keine Forschungsstudien zur Vervielf\u00e4ltigung gefunden, aber wenn ich eine f\u00e4nde, w\u00e4re ich definitiv bereit, daran teilzunehmen.<\/p>\n<h3 class=\"p1\"><b>Welche Frage w\u00fcrden Sie sich w\u00fcnschen, dass die Forscher eine Antwort auf diese genetische Ver\u00e4nderung finden?<\/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.\">Wie sieht die Zukunft f\u00fcr Kinder und Erwachsene mit der Duplikation aus?<\/p>\n<h3 class=\"p1\"><b>Was haben Sie von anderen Familien \u00fcber Ihre oder die genetische Erkrankung Ihres Kindes erfahren?<\/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.\">Ich habe gelernt, dass es viele Komplikationen geben kann, die durch die Duplikation entstehen.<\/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>Wenn Sie jemandem, bei dem vor kurzem eine genetische Ver\u00e4nderung in Ihrer Familie diagnostiziert wurde, einen Rat geben k\u00f6nnten, wie w\u00fcrde dieser lauten?<\/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.\">Halten Sie durch, suchen Sie nach Gruppen mit anderen, die das Gleiche erleben.<\/p>\n<h3>Wie hat <span class=\"notranslate\">Simons Searchlight<\/span> Ihnen und Ihrer Familie geholfen?<\/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\">Ich habe gerade <span class=\"notranslate\">Simons Searchlight<\/span> gefunden!<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Entdecken Sie die inspirierende Geschichte der Talbotts.<\/p>\n","protected":false},"author":28,"featured_media":47193,"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":[330],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts\/55445"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/comments?post=55445"}],"version-history":[{"count":0,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts\/55445\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/media\/47193"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/media?parent=55445"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/categories?post=55445"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/tags?post=55445"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}