{"id":3354,"date":"2023-01-09T15:42:24","date_gmt":"2023-01-09T15:42:24","guid":{"rendered":"https:\/\/cureclcn4.org\/rencontrez-isabella\/"},"modified":"2025-11-11T12:41:17","modified_gmt":"2025-11-11T12:41:17","slug":"rencontrez-isabella","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/fr\/rencontrez-isabella\/","title":{"rendered":"Rencontrez Isabella"},"content":{"rendered":"

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Rencontrez Isabella (de Toscane, Italie)<\/h2>\n

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ANGLAIS<\/strong><\/p>\n

Isabella est une fille de 4 ans douce et affectueuse qui aime Peppa Pig et la musique. En d\u00e9cembre 2019, on lui a diagnostiqu\u00e9 une affection li\u00e9e \u00e0 la CLCN4 (variante c. 2152C> T). Isabella vit \u00e0 Ponte a Moriano, une petite ville de la province de Lucques, en Toscane, avec son p\u00e8re Andrea, son fr\u00e8re a\u00een\u00e9, Cristiano, et moi, Ilaria, sa maman.<\/p>\n

Isabella \u00e9tait un b\u00e9b\u00e9 tr\u00e8s d\u00e9sir\u00e9 et attendu depuis longtemps. Elle est n\u00e9e le 6 juillet 2016 avec un accouchement par c\u00e9sarienne programm\u00e9 \u00e0 38 semaines. Elle \u00e9tait petite, ne pesant que 2 kg et 520 g, mais en bonne sant\u00e9. Elle \u00e9tait belle. Les premiers mois se sont d\u00e9roul\u00e9s comme pour tous les nouveau-n\u00e9s, avec quelques pleurs, un allaitement un peu difficile et des changements de couches, mais aussi ses premiers sons et sourires. C’\u00e9tait une p\u00e9riode de bonheur. Cependant, quelques heures apr\u00e8s sa premi\u00e8re vaccination, Isabella a commenc\u00e9 \u00e0 montrer des raideurs, ses yeux se sont retourn\u00e9s et elle a presque arr\u00eat\u00e9 de respirer. Ces \u00e9pisodes n’ont dur\u00e9 que quelques secondes mais, en tant que m\u00e8re, j’ai imm\u00e9diatement compris que quelque chose n’allait pas. Nous l’avons emmen\u00e9e aux urgences et elle a ensuite \u00e9t\u00e9 admise en p\u00e9diatrie. Elle a alors commenc\u00e9 \u00e0 subir des examens : analyses de sang, \u00e9lectrocardiogrammes, \u00e9lectroenc\u00e9phalogrammes, etc. Tout est revenu n\u00e9gatif et les \u00e9pisodes ont \u00e9t\u00e9 interpr\u00e9t\u00e9s comme \u00e9tant caus\u00e9s par le reflux.<\/p>\n

Nous sommes ensuite rentr\u00e9s chez nous et avons repris notre vie quotidienne, en essayant d’oublier l’\u00e9v\u00e9nement. Mais je me suis alors rendu compte que, m\u00eame \u00e0 six mois, Isabella ne s’asseyait toujours pas, ne roulait pas et surtout, ce qui m’inqui\u00e9tait le plus, elle ne pouvait pas tenir sa t\u00eate en l’air. Ayant d\u00e9j\u00e0 fait l’exp\u00e9rience de son fr\u00e8re Cristiano, n\u00e9 pr\u00e9matur\u00e9ment et souffrant lui aussi d’un certain retard de d\u00e9veloppement moteur, constater qu’Isabella \u00e9tait encore plus retard\u00e9e \u00e9tait in\u00e9vitable. La sonnette d’alarme \u00e9tait claire et forte : quelque chose n’allait pas avec Isabella.<\/p>\n

Le diagnostic est arriv\u00e9 en d\u00e9cembre 2019. Isabella avait une mutation dans le g\u00e8ne CLCN4. Il y avait peu de cas de cette condition dans le monde, et peut-\u00eatre \u00e9tions-nous le seul cas en Italie. \u00c0 ce stade, nous nous sommes sentis tristes, en col\u00e8re et profond\u00e9ment impuissants. Les m\u00e9decins ont dit qu’on ne savait pas grand-chose de cette maladie et qu’il n’y avait pas de rem\u00e8de. \u00c9tant donn\u00e9 qu’il s’agit d’une maladie rare, et sachant que la recherche a tendance \u00e0 se concentrer sur les maladies les plus fr\u00e9quentes, nous avions peur qu’Isabella reste dans l’ombre. Mais elle ne doit pas, elle est notre soleil !<\/p>\n

Le manque de recherche sur cette maladie et la raret\u00e9 des informations nous ont \u00e9galement fait prendre conscience que nous avons un r\u00f4le cl\u00e9 \u00e0 jouer pour faire avancer les choses. Le diagnostic de CLCN4 signifie que notre avenir, et celui d’Isabella, sera loin d’\u00eatre facile. Cependant, nous esp\u00e9rons que la recherche conduira au d\u00e9veloppement de th\u00e9rapies qui pourraient contribuer \u00e0 am\u00e9liorer diff\u00e9rents aspects de la vie d’Isabella.<\/p>\n

ITALIEN<\/strong><\/p>\n

<\/strong><\/p>\n

Isabella est une petite fille de 4 ans tr\u00e8s douce et affable qui aime Peppa Pig et la musique. Nel dicembre del 2019, le \u00e8 stata diagnosticata una condizione correlata a CLCN4 (variante c. 2152C> T). Isabella vit \u00e0 Ponte a Moriano, un petit village de la province de Lucca, en Toscane, avec son p\u00e8re Andrea, son grand fr\u00e8re Cristiano et moi, Ilaria, sa m\u00e8re.<\/p>\n

Isabella \u00e9tait une enfant tant d\u00e9sir\u00e9e et tant attendue. \u00c8 nata il 6 luglio 2016 con un parto cesareo programmato a 38 settimane. Il \u00e9tait petit, il pesait seulement 2 kg et 520 g, mais il \u00e9tait sain. Les premiers mois sont comme tous les nouveau-n\u00e9s, avec un peu de pianto, des allattements au niveau du nez un peu difficiles et des changements de couleur de peau, mais aussi ses premi\u00e8res vocalisations et ses chagrins. Questo \u00e8 stato un periodo di felicit\u00e0. Cependant, quelques heures apr\u00e8s sa premi\u00e8re vaccination, Isabella a commenc\u00e9 \u00e0 montrer une certaine rigidit\u00e9, ses yeux se sont ouverts et elle a presque oubli\u00e9 de respirer. Les \u00e9pisodes ne durent que quelques secondes mais, avec ma m\u00e8re, j’ai compris que quelque chose n’allait pas. L’abbiamo portata al pronto soccorso e in seguito \u00e8 stata ricoverata in pediatria. Ha quindi iniziato a sottoporsi agli esami : esami del sangue, elettrocardiogrammi, elettroencefalogramma, ecc. Tout a donn\u00e9 un r\u00e9sultat n\u00e9gatif et les \u00e9pisodes ont \u00e9t\u00e9 interpr\u00e9t\u00e9s comme des causes de reflux.<\/p>\n

Nous sommes rentr\u00e9s \u00e0 la maison et nous avons repris notre vie quotidienne, en essayant de mettre en place l’\u00e9pisode. En revanche, je me suis rendu compte qu’apr\u00e8s six mois, Isabella n’\u00e9tait toujours pas assise, ne tournait pas et surtout, ce qui me pr\u00e9occupait le plus, c’\u00e9tait qu’elle ne parvenait pas \u00e0 garder la t\u00eate haute. Apr\u00e8s avoir v\u00e9cu l’exp\u00e9rience du fr\u00e8re Cristiano, n\u00e9 pr\u00e9matur\u00e9ment et qui a souffert d’une certaine forme de retard dans le d\u00e9veloppement moteur, il \u00e9tait in\u00e9vitable de constater qu’Isabella \u00e9tait de plus en plus fatigu\u00e9e. Il campanello d’allarme era chiaro e forte : c’era qualcosa che non andava con Isabella.<\/p>\n

Le diagnostic est arriv\u00e9 en d\u00e9cembre 2019. Isabella avait une mutation sur le g\u00e8ne CLCN4. Il y a peu de cas de cette situation dans le monde, mais nous sommes le seul cas en Italie. A questo punto ci siamo sentiti delusi, tristi, arrabbiati e profondamente impotenti. Les m\u00e9decins ont dit qu’ils ne savaient pas grand-chose de cette situation et qu’il n’y avait pas de traitement. Souffrant d’une maladie grave et sachant que la recherche tend vers des conditions moins fr\u00e9quentes, nous avons craint qu’Isabella ne se retrouve dans l’ombre. Ma non deve, \u00e8 il nostro sole !<\/p>\n

Le manque de recherches sur cette situation et le manque d’informations ont permis de comprendre que nous avons un r\u00f4le important \u00e0 jouer pour aider \u00e0 faire progresser les choses. Le diagnostic de CLCN4 signifie que notre avenir, et celui d’Isabella, ne sera pas facile, et nous esp\u00e9rons que la recherche pourra contribuer au d\u00e9veloppement de th\u00e9rapies qui pourraient aider \u00e0 am\u00e9liorer divers aspects de la vie d’Isabella.<\/p>\n

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Si vous souhaitez soutenir Isabella et d’autres enfants atteints de CLCN4, pensez \u00e0 faire un don \u00e0 Cure CLCN4. <\/strong><\/span> <\/strong><\/span><\/p>\n

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Prenez contact avec nous. Participez.<\/h2>\n

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Rencontrez Isabella (de Toscane, Italie) ANGLAIS Isabella est une fille de 4 ans douce et affectueuse qui aime Peppa Pig et la musique. En d\u00e9cembre 2019, on lui a diagnostiqu\u00e9 une affection li\u00e9e \u00e0 la CLCN4 (variante c. 2152C> T). Isabella vit \u00e0 Ponte a Moriano, une petite ville de la province de Lucques, en […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-3354","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3354","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/comments?post=3354"}],"version-history":[{"count":8,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3354\/revisions"}],"predecessor-version":[{"id":7075,"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/pages\/3354\/revisions\/7075"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/fr\/wp-json\/wp\/v2\/media?parent=3354"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}