{"id":25409,"date":"2024-04-03T17:54:41","date_gmt":"2024-04-03T17:54:41","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=25409"},"modified":"2025-12-01T14:56:59","modified_gmt":"2025-12-01T13:56:59","slug":"temoignage-gersohn","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/temoignage-gersohn\/","title":{"rendered":"Testimonio de una familia: la familia Gersohn"},"content":{"rendered":"

Une journ\u00e9e dans la vie d’une famille atteinte du syndrome de duplication du g\u00e8ne MECP2<\/strong><\/p>\n\n\n\n

(\u00e9crit par Sasha Gersohn)<\/p>\n\n\n\n

Le matin, le signal d’alarme retentit. <\/p>\n\n\n\n

Il est temps de changer l’alimentation en continu, car notre fils, Zac, est nourri par une sonde GJ en raison de probl\u00e8mes de d\u00e9glutition et de reflux. Nous retirons un masque de bipap, qui fournit une assistance respiratoire pendant son sommeil, et nous rechargeons le moniteur d’oxyg\u00e8ne et le moniteur de fr\u00e9quence cardiaque.<\/p>\n\n\n\n

La journ\u00e9e peut alors commencer… d’abord avec des m\u00e9dicaments pour pr\u00e9venir le reflux et am\u00e9liorer les niveaux de fer.<\/p>\n\n\n\n

De multiples th\u00e9rapies sont programm\u00e9es pour la journ\u00e9e : ergoth\u00e9rapie pour travailler la motricit\u00e9 fine, kin\u00e9sith\u00e9rapie pour travailler la motricit\u00e9 globale et renforcer les muscles, orthophonie pour apprendre d’autres fa\u00e7ons de communiquer et essayer d’am\u00e9liorer les capacit\u00e9s de d\u00e9glutition. <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

En l’espace de quelques heures, tout ce travail acharn\u00e9 \u00e9puise Zac et le rend grognon. Il doit alors faire sa premi\u00e8re sieste de la journ\u00e9e… de pr\u00e9f\u00e9rence dans son lit avec la bipap pour un meilleur sommeil. <\/p>\n\n\n\n

Au r\u00e9veil, il est temps de s’entra\u00eener \u00e0 se tenir debout et \u00e0 se d\u00e9placer. Nous utilisons l’\u00e9quipement sp\u00e9cialis\u00e9 jusqu’\u00e0 l’heure de la deuxi\u00e9me sieste. <\/p>\n\n\n\n

Le soir, les m\u00e9dicaments sont administr\u00e9s par la sonde gastro-intestinale. Nous utilisons un n\u00e9buliseur tous les jours pour pr\u00e9venir la congestion pulmonaire. \u00c0 l’heure du coucher, nous connectons le bipap, les attelles de pouce qui soutiennent le pouce ouvert pendant la nuit, le moniteur d’oxyg\u00e8ne et nous changeons la seringue de lait pour la troisi\u00e8me fois de la journ\u00e9e.<\/p>\n\n\n\n

Si Zac n’est pas en forme, la plupart des activit\u00e9s de la journ\u00e9e impliquent une physioth\u00e9rapie thoracique, des n\u00e9bulisations suppl\u00e9mentaires et des pulv\u00e9risations nasales pour \u00e9viter une pneumonie. Si Zac tousse, nous utilisons imm\u00e9diatement des antibiotiques – cela peut arriver une fois tous les deux mois et les sympt\u00f4mes de la maladie peuvent prendre jusqu’\u00e0 un mois pour dispara\u00eetre. Tous les six mois, des visites \u00e0 l’h\u00f4pital pour enfants sont organis\u00e9es pour consulter des sp\u00e9cialistes : neurologues, sp\u00e9cialistes du sommeil, pneumologues, gastro-ent\u00e9rologues, ainsi que le p\u00e9diatre. <\/p>\n\n\n\n

La garderie n’est pas une option, car il faut toujours \u00e9viter les personnes malades et les grandes foules, si bien que Zac a besoin d’un soutien \u00e0 domicile ou de la pr\u00e9sence d’un parent. Cela limite \u00e9galement ce que l’on peut faire en famille par crainte d’infections. <\/p>\n\n\n\n

Voici le quotidien d’un enfant et d’une soignante confront\u00e9s au syndrome de duplication du g\u00e8ne MECP2.<\/p>\n\n\n\n

Au r\u00e9veil de notre fille, nous entendons des pas qui courent dans le couloir, elle saute sur notre lit et nous fait des c\u00e2lins le matin. Elle nous chuchote combien elle nous aime et ce qu’elle aimerait faire aujourd’hui. Ses possibilit\u00e9s sont infinies. Nager, jouer au bowling, jouer au parc, passer du temps avec ses amis de l’\u00e9cole.\u00a0<\/p>\n\n\n\n

Elle ne se fatigue pas et n’a pas de mal \u00e0 exprimer ses \u00e9motions. La maladie ne l’inqui\u00e8te pas et ne nous inqui\u00e8te pas non plus. Son avenir est prometteur, elle est intelligente et amusante, pleine de volont\u00e9 et aimante. Elle n’a aucun probl\u00e8me de sant\u00e9. C’est le type de journ\u00e9e et d’avenir que nous souhaitons pour tous nos enfants.<\/p>\n\n\n\n

Pour les soignants, les pens\u00e9es constantes concernant les m\u00e9dicaments, les th\u00e9rapies, la maladie et le bien-\u00eatre sont \u00e9puisantes et stressantes. <\/p>\n\n\n\n

Le parent est priv\u00e9 de l’\u00e9nergie n\u00e9cessaire pour jouer avec les fr\u00e8res et soeurs, et se sent toujours coupable. Les pauses et les vacances doivent \u00eatre pr\u00e9vues pour \u00e9chapper au rythme effr\u00e9n\u00e9 de la vie quotidienne. La communication avec les partenaires, les amis, la famille ou les th\u00e9rapeutes est extr\u00eamement importante pour d\u00e9baller les sentiments qui accompagnent le fait d’avoir un enfant ayant des besoins sp\u00e9ciaux…<\/p>","protected":false},"excerpt":{"rendered":"

Une journ\u00e9e dans la vie d’une famille atteinte du syndrome de duplication du g\u00e8ne MECP2 (\u00e9crit par Sasha Gersohn) Le matin, le signal d’alarme retentit.  Il est temps de changer […]<\/p>","protected":false},"author":1,"featured_media":25433,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[174],"tags":[],"class_list":["post-25409","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-temoignage"],"yoast_head":"\nT\u00e9moignage de famille: les Gersohn - DupMECP2<\/title>\n<meta name=\"description\" content=\"Une journ\u00e9e dans la vie d'une famille atteinte du syndrome de duplication du g\u00e8ne MECP2. 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