{"id":55439,"date":"2024-10-02T16:18:54","date_gmt":"2024-10-02T20:18:54","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?p=55439"},"modified":"2024-10-03T13:39:50","modified_gmt":"2024-10-03T17:39:50","slug":"camis-kingsleys-kais-journey-with-1q21-1-duplication","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/2024\/10\/02\/camis-kingsleys-kais-journey-with-1q21-1-duplication\/","title":{"rendered":"The Talbotts&#8217; Journey With 1q21.1 Duplication Syndrome"},"content":{"rendered":"<h3>What is your family like?<\/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 have a large family. I have 5 children, 3 of whom have the duplication.<\/p>\n<h3 class=\"p1\"><b>What do you do for fun?<\/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 play outside, go on vacation, parks, swimming, etc.<\/p>\n<h3 class=\"p1\"><b>Tell us about the biggest hardship you face.<\/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.\">Having three children with the duplication and being unsure about what the future holds because of the lack of information about the duplication.<\/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>What impacts your to participate or not to participate in research? How has participating in research been helpful for you?<\/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.\">I have not found any research studies for the duplication yet, if I did I would definitely be willing to participate.<\/p>\n<h3 class=\"p1\"><b>What is one question you wish researchers could answer about this genetic change?<\/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.\">What does the future hold for children and adults with the duplication?<\/p>\n<h3 class=\"p1\"><b>What have you learned about your or your child\u2019s genetic condition from other families?<\/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.\">I have learned there is many complications that can be present from the duplication.<\/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>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<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.\">Hang in there, search for groups with others experiencing the same.<\/p>\n<h3>How has <span class=\"notranslate\">Simons Searchlight<\/span> served as a resource for you and your family?<\/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\">I have just found <span class=\"notranslate\">Simons Searchlight<\/span>!<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Discover the inspiring story of the Talbotts.<\/p>\n","protected":false},"author":28,"featured_media":11980,"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\/55439"}],"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=55439"}],"version-history":[{"count":4,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/55439\/revisions"}],"predecessor-version":[{"id":55443,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/55439\/revisions\/55443"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media\/11980"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=55439"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/categories?post=55439"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/tags?post=55439"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}