{"id":79577,"date":"2025-05-16T12:21:37","date_gmt":"2025-05-16T10:21:37","guid":{"rendered":"https:\/\/www.ipsen.com\/?p=79577"},"modified":"2025-11-24T15:30:29","modified_gmt":"2025-11-24T13:30:29","slug":"celine-et-suzanne-vivre-avec-le-syndrome-dalagille","status":"publish","type":"post","link":"https:\/\/www.ipsen.com\/fr\/actualites\/rare-diseases-fr\/celine-et-suzanne-vivre-avec-le-syndrome-dalagille\/","title":{"rendered":"C\u00e9line et Suzanne : Vivre avec le syndrome d\u2019Alagille"},"content":{"rendered":"    <section class=\"video-card \">\n        <div class=\"container\">\n            <!-- Block Details -->\n            <div class=\"video-card-header\">\n                <h3 class=\"video-card-block-title hidden heading-three\">\n                                    <\/h3>\n                <p class=\"charcoal-grey video-card-block-summary hidden\"> \n                                    <\/p>\n            <\/div>\n\n            <!-- Video Iframe embed -->\n                            <div class=\"video-embed\"> \n                <iframe loading=\"lazy\" title=\"IPSEN-Celine-Suzanne-20mbps_STANG\" src=\"https:\/\/player.vimeo.com\/video\/1084634011?app_id=122963&#038;autoplay=1&#038;muted=1&#038;controls=1&#038;loop=1&#038;autopause=1&#038;background=0\" width=\"640\" height=\"360\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture; clipboard-write; encrypted-media; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture\" data-ot-ignore><\/iframe>                <\/div>\n            \n            <!-- Block CTA -->\n            <div class=\"cta-block hidden\">\n                            <\/div>\n\n        <\/div>\n    <\/section>\n\n\n\n<p>\u00c0 seulement neuf ans, Suzanne est une jeune fille brillante et cr\u00e9ative qui aime danser, dessiner, explorer les bois et observer les oiseaux. Bien qu\u2019elle soit atteinte du syndrome d\u2019Alagille (SAG), une maladie g\u00e9n\u00e9tique rare, elle profite de la vie avec enthousiasme et curiosit\u00e9.<\/p>\n\n\n\n<p>Le syndrome d\u2019Alagille (SAG) affecte principalement le foie, mais peut \u00e9galement toucher d\u2019autres organes, notamment le c\u0153ur, le cerveau, les os et les yeux.<a href=\"#_edn1\" id=\"_ednref1\">[i]<\/a> Chez les b\u00e9b\u00e9s atteints du SAG \u00e0 la naissance, le foie dispose de moins de voies biliaires, ce qui signifie que la bile et les toxines ne peuvent pas s\u2019\u00e9couler normalement. Et, par cons\u00e9quent, elles s\u2019accumulent dans le corps, provoquant l\u2019affection connue sous le nom de cholestase.<a href=\"#_edn2\" id=\"_ednref2\">[ii]<\/a> Cette accumulation est responsable de l\u2019un des sympt\u00f4mes les plus courants et les plus perturbants du SAG : le prurit ou les d\u00e9mangeaisons intenses.<\/p>\n\n\n\n<p><strong><em>\u00ab Cette maladie m\u2019\u00e9nerve et je veux juste qu\u2019elle disparaisse, qu\u2019elle ne fasse plus partie de mon corps. \u00bb &#8211; Suzanne<\/em><\/strong><\/p>\n\n\n\n<p>Peu de temps apr\u00e8s sa naissance, la m\u00e8re de Suzanne, C\u00e9line, pressentait que quelque chose n\u2019allait pas. Malgr\u00e9 une grossesse et un accouchement qui se sont d\u00e9roul\u00e9s dans de bonnes conditions, Suzanne pleurait souvent et avait le teint jaune. Un commentaire fortuit d\u2019un orthophoniste a confirm\u00e9 les inqui\u00e9tudes de C\u00e9line, conduisant \u00e0 un diagnostic de SAG.<\/p>\n\n\n\n<p>L\u2019une des plus grandes difficult\u00e9s \u00e0 laquelle Suzanne a \u00e9t\u00e9 confront\u00e9e \u00e9tait un prurit s\u00e9v\u00e8re, une d\u00e9mangeaison incessante, qui a commenc\u00e9 alors qu\u2019elle n\u2019avait que neuf mois. La perturbation \u00e9tait si intense que C\u00e9line devait souvent se lever plusieurs fois par nuit pour la r\u00e9conforter, ce qui a entra\u00een\u00e9 des ann\u00e9es d\u2019\u00e9puisement et de tension \u00e9motionnelle pour toute la famille. Comme de nombreux aidants d\u2019enfants atteints de maladies rares, C\u00e9line doit g\u00e9rer les difficult\u00e9s quotidiennes tout en maintenant l\u2019\u00e9quilibre entre les soins et les rythmes de la vie familiale.<\/p>\n\n\n\n<p><strong><em>\u00ab Je devais me lever presque toutes les nuits, voire plusieurs fois dans la nuit, pour la calmer et l\u2019apaiser. Et c\u2019\u00e9tait tr\u00e8s difficile. Il fallait aussi que je puisse assurer la journ\u00e9e, et puis le fait de devoir se lever la nuit fatigue forc\u00e9ment, m\u00eame si l\u2019on est une maman aidante&nbsp;\u00bb &#8211; C\u00e9line<\/em><\/strong><strong><em><\/em><\/strong><\/p>\n\n\n\n<p>Aujourd\u2019hui, gr\u00e2ce \u00e0 des soins efficaces, Suzanne continue de prendre plaisir \u00e0 ses activit\u00e9s quotidiennes. Les organisations de patients comme l\u2019AMFE (<a href=\"https:\/\/amfe.fr\/\">Association Maladies du Foie depuis l\u2019Enfance<\/a>) ont \u00e9galement \u00e9t\u00e9 une bou\u00e9e de sauvetage pour toute la famille, offrant aux personnes qui vivent avec des maladies rares du foie, un soutien vital, un lien et une communaut\u00e9.<\/p>\n\n\n\n<p>Chez Ipsen, nous travaillons en \u00e9troite collaboration avec la communaut\u00e9 des personnes atteintes de maladies rares du foie pour comprendre ce qui est le plus important. En collaborant avec la communaut\u00e9, nous nous effor\u00e7ons de sensibiliser, de raccourcir le parcours jusqu\u2019au diagnostic et de r\u00e9duire le fardeau \u00e9motionnel et physique que les familles comme C\u00e9line et Suzanne doivent porter. Pour nous, il est primordial de contribuer \u00e0 am\u00e9liorer leur vie.<\/p>\n\n\n\n<p class=\"has-white-color has-text-color has-link-color wp-elements-7e4ac651328708ea719ac0894fa30934\">.<\/p>\n\n\n\n<!--Alert Card Layout Start Here-->\n<section class=\"alertcard-section\">\n      <div class=\"container\">\n        <!--Alert Box HTML Start Here-->\n        <div class=\"alert-box general-box\">\n                  <div class=\"info-contents\">\n          <h4 role=\"heading\" aria-level=\"2\" class=\"info-head heading-four heading-four\">R\u00e9ferences<\/h4>\n            <p class=\"info-sub-head-para hidden heading-para\"><\/p>\n            <div class=\"alert-content visible\"><ol>\n<li>.Bufler, P., Howard, R., Quadrado, L., Lacey, G., Terner-Rosenthal, J., Goldstein, A., Vig, P., &amp; Kelly, D. (2025). <em>The burden of Alagille syndrome: Uncovering the potential of emerging therapeutics \u2013 A comprehensive systematic literature review<\/em>. Journal of Comparative Effectiveness Research, 14(2). <a href=\"https:\/\/doi.org\/10.57264\/cer-2024-0188\">https:\/\/doi.org\/10.57264\/cer-2024-0188<\/a><!-- wp:paragraph --><!-- \/wp:paragraph --><\/li>\n<li>National Organization for Rare Disorders. Rare Disease Database: Alagille Syndrome. Disponible sur : https:\/\/rarediseases.org\/rarediseases\/ alagille-syndrome. Consult\u00e9 en mai 2025<\/li>\n<\/ol>\n<p><!-- \/wp:paragraph --><\/p>\n<\/div>\n          <\/div>\n        <\/div>\n        <!--Alert Box HTML Start Here-->\n      <\/div>\n    <\/section>\n<!--Alert Card Layout End Here-->\n","protected":false},"excerpt":{"rendered":"<p>\u00c0 seulement neuf ans, Suzanne est une jeune fille brillante et cr\u00e9ative qui aime danser, dessiner, explorer les bois et<\/p>\n","protected":false},"author":11,"featured_media":79575,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1192],"tags":[],"class_list":["post-79577","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases-fr","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>C\u00e9line et Suzanne : Vivre avec le syndrome d\u2019Alagille - 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