{"id":55448,"date":"2024-10-02T16:18:54","date_gmt":"2024-10-02T20:18:54","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/02\/de-reis-van-de-talbotts-met-het-1q21-1-duplicatiesyndroom\/"},"modified":"2024-10-02T16:18:54","modified_gmt":"2024-10-02T20:18:54","slug":"de-reis-van-de-talbotts-met-het-1q21-1-duplicatiesyndroom","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/nl\/2024\/10\/02\/de-reis-van-de-talbotts-met-het-1q21-1-duplicatiesyndroom\/","title":{"rendered":"De reis van de Talbotts met het 1q21.1 duplicatiesyndroom"},"content":{"rendered":"<h3>Hoe ziet jouw familie eruit?<\/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\">We hebben een groot gezin.<br \/>\nIk heb 5 kinderen, waarvan er 3 de duplicatie hebben. <\/p>\n<h3 class=\"p1\"><b>Wat doe je voor je plezier?<\/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\">We spelen buiten, gaan op vakantie, naar parken, zwemmen, enz.<\/p>\n<h3 class=\"p1\"><b>Vertel ons over de grootste ontbering waar je mee te maken hebt.<\/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.\">Drie kinderen hebben met de duplicatie en onzeker zijn over wat de toekomst brengt door het gebrek aan informatie over de duplicatie.<\/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>Wat be\u00efnvloedt uw beslissing om wel of niet deel te nemen aan onderzoek? Hoe heeft deelname aan onderzoek je geholpen?<\/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.\">Ik heb nog geen onderzoek naar duplicatie gevonden, maar als dat wel zo was, zou ik zeker bereid zijn om mee te doen.<\/p>\n<h3 class=\"p1\"><b>Wat is \u00e9\u00e9n vraag waarvan je zou willen dat onderzoekers die konden beantwoorden over deze genetische verandering?<\/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.\">Wat heeft de toekomst in petto voor kinderen en volwassenen met duplicatie?<\/p>\n<h3 class=\"p1\"><b>Wat heb je van andere families geleerd over de genetische aandoening van jou of je kind?<\/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.\">Ik heb geleerd dat de duplicatie veel complicaties met zich mee kan brengen.<\/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>Als je \u00e9\u00e9n advies zou mogen geven aan iemand bij wie onlangs de genetische verandering in jouw familie is vastgesteld, wat zou dat dan zijn?<\/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.\">Hou vol, zoek naar groepen met anderen die hetzelfde meemaken.<\/p>\n<h3>Hoe heeft Simons Zoeklicht jou en je familie geholpen?<\/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\">Ik heb zojuist Simons Zoeklicht gevonden!<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ontdek het inspirerende verhaal van de Talbotts.<\/p>\n","protected":false},"author":28,"featured_media":42468,"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":[271],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts\/55448"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/users\/28"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/comments?post=55448"}],"version-history":[{"count":0,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts\/55448\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/media\/42468"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/media?parent=55448"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/categories?post=55448"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/tags?post=55448"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}