{"id":1463,"date":"2017-06-07T10:06:12","date_gmt":"2017-06-07T15:06:12","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1463"},"modified":"2017-06-07T10:06:12","modified_gmt":"2017-06-07T15:06:12","slug":"jill","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/fr\/individuals-with-lgmd-interviews\/2017\/06\/07\/jill\/","title":{"rendered":"INDIVIDUELLE AVEC LGMD : Jill"},"content":{"rendered":"<p><strong>LGMD \"Spotlight Interview\" (en anglais)<\/strong><\/p>\n<p><strong>NOM :<\/strong> Jill AGE : 42<a href=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2017\/06\/LGMD1B-Jill-V.png\"><img decoding=\"async\" class=\"lazyload size-medium wp-image-1462 alignright\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27300%27%20height%3D%27169%27%20viewBox%3D%270%200%20300%20169%27%3E%3Crect%20width%3D%27300%27%20height%3D%27169%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2017\/06\/LGMD1B-Jill-V-300x169.png\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><br \/>\n<strong>PAYS<\/strong>: \u00c9TATS-UNIS<br \/>\n<strong>LGMD Sous-type<\/strong>Dystrophie musculaire d'Emery-Dreifuss : dystrophie musculaire autosomique dominante d'Emery-Dreifuss (mutation LMNA\/LGMD1B)<\/p>\n<p><strong>\u00c0 QUEL \u00c2GE AVEZ-VOUS \u00c9T\u00c9 DIAGNOSTIQU\u00c9 ?<\/strong>:<br \/>\nJ'ai \u00e9t\u00e9 diagnostiqu\u00e9e \u00e0 l'\u00e2ge de 4 ans.<\/p>\n<p><strong>QUELS ONT \u00c9T\u00c9 VOS PREMIERS SYMPT\u00d4MES :<\/strong><br \/>\nJ'\u00e9tais mince \u00e0 la naissance, et mes tantes se souviennent toutes deux d'avoir pens\u00e9 qu'il n'y avait pas assez de graisse et de muscles sur mes fesses et mes jambes. Mes premiers jalons n'\u00e9taient pas remarquables ; j'\u00e9tais capable de m'asseoir, de ramper, de marcher, etc. \u00e0 des \u00e2ges appropri\u00e9s. Lorsque je suis entr\u00e9e \u00e0 l'\u00e9cole maternelle, on a remarqu\u00e9 que je tombais beaucoup plus souvent que les autres enfants et que j'avais du mal \u00e0 suivre les autres. Je me souviens avoir eu beaucoup de mal \u00e0 rester debout dans une \"maison gonflable\" lors d'une f\u00eate foraine, et je n'aimais pas non plus les autos tamponneuses parce que j'avais des probl\u00e8mes de faiblesse au niveau du cou.<\/p>\n<p><strong>AVEZ-VOUS D'AUTRES MEMBRES DE VOTRE FAMILLE QUI SONT ATTEINTS DE LA LGMD :<\/strong><br \/>\nMon p\u00e8re, mes deux fr\u00e8res et ma s\u0153ur sont tous atteints d'EDMD, mais avec une s\u00e9v\u00e9rit\u00e9 tr\u00e8s variable. Une s\u0153ur n'est pas atteinte. On soup\u00e7onne que ma grand-m\u00e8re paternelle et mon arri\u00e8re-grand-m\u00e8re ont \u00e9galement h\u00e9rit\u00e9 de cette maladie, mais elle \u00e9tait si l\u00e9g\u00e8re qu'elles ne l'ont jamais su de leur vivant.<\/p>\n<p><strong>QUELS SONT, SELON VOUS, LES PLUS GRANDS D\u00c9FIS \u00c0 RELEVER POUR VIVRE AVEC LA LGMD :<\/strong><br \/>\nJe suis frustr\u00e9e parce que je veux faire les choses qu'une personne de mon \u00e2ge devrait pouvoir faire sans grande difficult\u00e9. Par exemple, il m'est tr\u00e8s difficile de faire le m\u00e9nage et je ne parviens pas \u00e0 donner \u00e0 la maison l'aspect que j'imagine apr\u00e8s avoir travaill\u00e9 dur.<\/p>\n<p><strong>QUELLE EST VOTRE PLUS GRANDE R\u00c9ALISATION :<\/strong><br \/>\nMa plus grande r\u00e9ussite a \u00e9t\u00e9 de d\u00e9couvrir mon propre diagnostic lorsque j'\u00e9tais adolescente et d'informer le cardiologue de mon p\u00e8re que notre maladie g\u00e9n\u00e9tique n\u00e9cessitait l'implantation d'un stimulateur cardiaque. Cela lui a peut-\u00eatre sauv\u00e9 la vie alors qu'il n'avait que 44 ans. Cela nous a donn\u00e9 la chance de l'aimer pendant encore 18 ans.<\/p>\n<p><strong>COMMENT LA LGMD VOUS A-T-ELLE INFLUENC\u00c9 POUR QUE VOUS DEVENIEZ LA PERSONNE QUE VOUS \u00caTES AUJOURD'HUI :<\/strong><br \/>\nCela m'a appris \u00e0 compter sur moi-m\u00eame plut\u00f4t que de me tourner vers les autres pour r\u00e9soudre mes probl\u00e8mes. J'ai appris tr\u00e8s t\u00f4t que si l'on souffre d'une maladie tr\u00e8s rare, il faut devenir son propre d\u00e9fenseur. Par ailleurs, le fait d'\u00eatre atteint d'une maladie musculaire m'a pouss\u00e9 \u00e0 me consacrer enti\u00e8rement \u00e0 mes \u00e9tudes. J'ai \u00e9tudi\u00e9 la g\u00e9n\u00e9tique en licence et la cr\u00e9ation litt\u00e9raire en master. Sans mes r\u00e9alisations dans l'enseignement sup\u00e9rieur, j'aurais peut-\u00eatre du mal \u00e0 d\u00e9couvrir mon but dans la vie.<\/p>\n<p><strong>QUE VOULEZ-VOUS QUE LE MONDE SACHE \u00c0 PROPOS DE LA LGMD :<\/strong><br \/>\nEn ce qui concerne ce que je voudrais que les gens sachent \u00e0 propos de la maladie d'Emery-Dreifuss, je voudrais probablement qu'ils sachent que je suis comme n'importe qui d'autre \u00e0 l'int\u00e9rieur. Je ressens les m\u00eames douleurs, j'ai les m\u00eames r\u00eaves et, par-dessus tout, je veux simplement participer \u00e0 tout ce qu'il y a \u00e0 vivre dans la vie. Je suis heureuse en m\u00e9nage depuis pr\u00e8s de 12 ans et j'ai \u00e9lev\u00e9 un fils jusqu'\u00e0 l'\u00e2ge de 11 ans. Je voudrais surtout que les gens comprennent que ces objectifs de vie peuvent \u00eatre atteints par une personne m\u00eame si elle est incapable de marcher.<\/p>\n<p><strong>SI VOTRE LGMD POUVAIT \u00caTRE \"GU\u00c9RIE\" DEMAIN, QUELLE SERAIT LA PREMI\u00c8RE CHOSE QUE VOUS VOUDRIEZ FAIRE :<\/strong><br \/>\nJe voudrais plaider pour que la maladie d'Alzheimer et les affections connexes soient incluses dans les tests g\u00e9n\u00e9tiques propos\u00e9s aux nouveau-n\u00e9s. Mon souhait le plus cher est de ne pas voir une g\u00e9n\u00e9ration future passer par les difficult\u00e9s que j'ai connues, et le meilleur moment pour intervenir est celui de la naissance.<\/p>\n<p>Pour lire d'autres \"LGMD Spotlight Interviews\" ou pour vous porter volontaire en vue d'une prochaine interview, veuillez consulter notre site web \u00e0 l'adresse suivante : <a href=\"https:\/\/www.lgmd-info.org\/fr\/spotlight-interviews\/\" target=\"_blank\" rel=\"nofollow noopener noreferrer\">https:\/\/www.lgmd-info.org\/spotlight-interviews<\/a><\/p>\n<div><\/div>","protected":false},"excerpt":{"rendered":"<p>LGMD &#8220;Spotlight Interview&#8221; NAME: Jill AGE: 42 COUNTRY: USA LGMD [&hellip;]<\/p>","protected":false},"author":1,"featured_media":1462,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,44],"tags":[74,43,16],"class_list":["post-1463","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd1b","tag-emery-dreifuss","tag-lgmd1b","tag-united-states"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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