{"id":7663,"date":"2023-04-22T16:20:29","date_gmt":"2023-04-22T16:20:29","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=7663"},"modified":"2024-02-09T14:23:48","modified_gmt":"2024-02-09T14:23:48","slug":"peter","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/de\/lgmd2c\/2023\/04\/22\/peter\/","title":{"rendered":"EINZELPERSON MIT LGMD: Peter"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><p><img decoding=\"async\" class=\"lazyload aligncenter size-medium wp-image-6116\" 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\/2023\/04\/LGMD2C-Peter-300x169.png\" alt=\"Lgmd2c Peter\" width=\"300\" height=\"169\" \/><\/p>\n<p><strong>Name<\/strong>:  Peter<\/p>\n<p><strong>Alter<\/strong>: \u00a010<\/p>\n<p><strong>Land<\/strong>:  USA<\/p>\n<p><strong>LGMD Unter-Typ<\/strong>:  LGMD 2C\/R5 Gamma-Sarkoglykanopathie<\/p>\n<p><em>* Von Peters Mutter ausgef\u00fcllt<\/em><\/p>\n<p><strong>In welchem Alter wurde bei Ihnen die Diagnose gestellt?<\/strong>?<\/p>\n<p>Die Diagnose wurde bei mir im Alter von 9 Jahren gestellt. Meine Mutter und mein Vater bemerkten eine zunehmende Muskelschw\u00e4che, die sehr besorgniserregend wurde, so dass wir Peter zum Hausarzt brachten, um ihn auf eine neuromuskul\u00e4re St\u00f6rung zu untersuchen. Wir fanden einen erh\u00f6hten CK-Wert und begannen unsere diagnostische Reise - ein Gentest best\u00e4tigte LGMD 2C.<\/p>\n<p><strong>Was waren Ihre ersten SYMPTOME? <\/strong><\/p>\n<p>Zu den fr\u00fchen Symptomen im Alter von 6-7 Jahren geh\u00f6rten Wadenhypertrophie, leichtes Zehenlaufen und die Unf\u00e4higkeit, bei altersgem\u00e4\u00dfen Sportarten mit Gleichaltrigen mitzuhalten (z. B. Bases zu laufen, Baseballs zu schlagen usw.).<\/p>\n<p>Zu den Symptomen im Alter von 8-9 Jahren geh\u00f6rten Schwierigkeiten beim Aufstehen vom Boden mit Hilfe der Beine, Schwierigkeiten beim Treppensteigen und h\u00e4ufige St\u00fcrze.<\/p>\n<p><strong>Haben Sie andere Familienmitglieder, die an LGMD leiden?<\/strong><\/p>\n<p>Bei der j\u00fcngeren Schwester, 7 Jahre, wurde sp\u00e4ter LGMD 2C diagnostiziert. Keine elterliche oder famili\u00e4re Vorgeschichte mit einer Dystrophie.<\/p>\n<p><strong>Was sind f\u00fcr Sie die gr\u00f6\u00dften Herausforderungen im Leben mit LGMD?<\/strong>?<\/p>\n<p>Peter hat begonnen, den Schulalltag m\u00fchsam zu bew\u00e4ltigen, so dass er h\u00e4ufig Pausen einlegen muss, zus\u00e4tzliche Zeit f\u00fcr den Weg zum Unterricht ben\u00f6tigt und in einigen Klassen untergebracht werden muss. Die Schwierigkeit, Treppen zu steigen und weite Strecken zu gehen, stellt fast t\u00e4glich eine Herausforderung dar.<\/p>\n<p><strong>Was ist Ihre gr\u00f6\u00dfte Errungenschaft?<\/strong><\/p>\n<p>Obwohl er aus den Sportteams ausgeschlossen wurde und manchmal nicht mit Gleichaltrigen mithalten konnte, hat Peter w\u00e4hrend der gesamten Grundschulzeit wunderbare Freundschaften geschlossen. Als er anfing, Symptome zu zeigen, scharten sich seine Freunde um ihn, um ihn zu unterst\u00fctzen und ihm zu helfen. Sein gro\u00dfer Freundeskreis ist ein direktes Ergebnis seiner freundlichen, umg\u00e4nglichen Pers\u00f6nlichkeit; die meisten seiner Freunde behaupten sogar, Peter sei ihr \"bester Freund\".<\/p>\n<p><strong>Wie hat LGMD Sie zu der Person gemacht, die Sie heute sind?<\/strong><\/p>\n<p>Peter ist immer noch dabei, etwas \u00fcber LGMD zu lernen. Wir haben seine neuromuskul\u00e4re Krankheit mit einer altersgerechten Sprache besprochen, wobei wir vorsichtig mit der F\u00e4higkeit eines 10-J\u00e4hrigen sind, alles zu \"googeln\". Wir besprechen die Bedeutung von Physiotherapie, Dehn\u00fcbungen und Ruhepausen, wenn er m\u00fcde ist. Peter hat in den letzten Jahren darum gek\u00e4mpft, mitzuhalten, ohne sich zu beschweren oder aufzugeben, obwohl er wesentlich h\u00e4rter gearbeitet hat, als wir wussten. Peter interessiert sich f\u00fcr Technik und Architektur von Flugzeugen, Flugzeugtr\u00e4gern, Marineschiffen usw. Er tr\u00e4umt davon, Marineschiffe, wie Flugzeugtr\u00e4ger und Zerst\u00f6rer, zu entwerfen und zu bauen.<\/p>\n<p><strong>Was m\u00f6chten Sie der Welt \u00fcber LGMD mitteilen?<\/strong>?<\/p>\n<p>Wir, als Familie, m\u00f6chten das Bewusstsein f\u00fcr LGMD, insbesondere f\u00fcr die Sarkoglykane, sch\u00e4rfen. Diese seltenen, genetisch bedingten Erbkrankheiten k\u00f6nnen ohne Vorwarnung oder Familienanamnese auftreten. Die Forschung zu LGMD ist begrenzt, ebenso wie die potenziellen Behandlungsm\u00f6glichkeiten. Ein weit verbreiteter Irrglaube \u00fcber LGMD ist, dass sie erst sp\u00e4ter im Leben auftreten kann und einen \"langsamen Verlauf\" hat - die Sarkoglykane betreffen jedoch h\u00e4ufig Kinder und k\u00f6nnen einen schnellen Krankheitsverlauf haben.<\/p>\n<p><strong>Wenn Ihre LGMD morgen \"geheilt\" werden k\u00f6nnte, was w\u00fcrden Sie als Erstes tun wollen?<\/strong>?<\/p>\n<p>Peter m\u00f6chte auf jeden Fall mit seinen Freunden Baseball spielen, mit seinem Bruder herumrennen und mit Papa lernen, wie man einen riesigen Thunfisch angelt!<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":7664,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,75],"tags":[],"class_list":["post-7663","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-individuals-with-lgmd-interviews","category-lgmd2c"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - 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