{"id":27559,"date":"2024-08-21T15:35:45","date_gmt":"2024-08-21T13:35:45","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=27559"},"modified":"2025-06-30T05:37:59","modified_gmt":"2025-06-30T03:37:59","slug":"nhs-charlie-2","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/nhs-charlie-2\/","title":{"rendered":"Przegl\u0105d NHS: W jaki spos\u00f3b Charlie przyczynia si\u0119 do bada\u0144?"},"content":{"rendered":"<p>Charlie jest jednym z dzieci bior\u0105cych udzia\u0142 w badaniu Natural Evolution Study (NHS) prowadzonym przez Ionis Pharmaceuticals w Stanach Zjednoczonych. Badanie rozpocz\u0119\u0142o si\u0119 w pa\u017adzierniku 2023 r. i obecnie odbywa si\u0119 w 5 r\u00f3\u017cnych o\u015brodkach w Stanach Zjednoczonych. Ma ono na celu pom\u00f3c naukowcom dowiedzie\u0107 si\u0119 wi\u0119cej o zespole duplikacji genu MECP2 i znale\u017a\u0107 sposoby oceny potencjalnego leczenia.<\/p>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/dupmecp2.eu\/pl\/zrozumienie-nhs\/\" style=\"border-radius:15px;background-color:#f7a13f\">Dowiedz si\u0119 wi\u0119cej o NHS<\/a><\/div>\n<\/div>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>W tym artykule mama Charliego, Katie, opowiada o ich podr\u00f3\u017cy, podczas kt\u00f3rej Charlie przechodzi r\u00f3\u017cne testy, takie jak badania krwi, testy rozwojowe i pomiary aktywno\u015bci m\u00f3zgu.<\/p>\n\n\n\n<p class=\"has-text-align-center has-text-color has-link-color has-medium-font-size wp-elements-5b9415fe2ee55a47796d63b32afc7416\" style=\"color:#f7a13f\"><strong><em>\"Jako rodzic dowiedzia\u0142em si\u0119 znacznie wi\u0119cej o moim synu i zespole duplikacji genu MECP2, uczestnicz\u0105c w badaniu, a nasza rodzina jest szcz\u0119\u015bliwa, \u017ce mo\u017ce przyczyni\u0107 si\u0119 do bada\u0144\".<\/em><\/strong><\/p>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<div style=\"height:50px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>Nasze do\u015bwiadczenie w badaniu naturalnej ewolucji sponsorowane przez Ionis<\/strong> (Napisane przez Katie Wester-Neal)<\/p>\n\n\n\n<p>Od ko\u0144ca 2023 roku m\u00f3j 8-letni syn Charlie i ja podr\u00f3\u017cujemy do Texas Children's Hospital w Houston w Teksasie, aby wzi\u0105\u0107 udzia\u0142 w badaniu naturalnej ewolucji sponsorowanym przez Ionis Pharmaceuticals. Badanie odbywa si\u0119 w kilku innych miejscach w Stanach Zjednoczonych, w tym na Uniwersytecie Vanderbilta w Nashville w stanie Tennessee oraz w Szpitalu Dzieci\u0119cym w Filadelfii w Pensylwanii.<\/p>\n\n\n\n<p>Jest to badanie obserwacyjne z wieloma ocenami. Charlie nie otrzymuje \u017cadnej interwencji ani lek\u00f3w podczas badania, ale testy pomagaj\u0105 naukowcom zidentyfikowa\u0107 biomarker do wykorzystania w leczeniu i lepiej zrozumie\u0107 zesp\u00f3\u0142 duplikacji genu MECP2. Po pierwsze, Charlie musia\u0142 zosta\u0107 zbadany, aby upewni\u0107 si\u0119, \u017ce spe\u0142nia kryteria w\u0142\u0105czenia do badania. Nast\u0119pnie rozpocz\u0105\u0142 wizyty badawcze.<\/p>\n\n\n\n<p>Og\u00f3lnie rzecz bior\u0105c, wizyty badawcze s\u0105 minimalnie inwazyjne i obejmuj\u0105 kilka spotka\u0144. Charlie spotyka si\u0119 z dwoma specjalistami. Pediatra rozwojowy przeprowadza szereg standardowych test\u00f3w. Podczas tych ocen odpowiadam na pytania, podczas gdy Charlie jest proszony o odpowiednie u\u017cywanie przedmiot\u00f3w lub reagowanie na instrukcje oparte na jego rozwoju.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1003\" height=\"1024\" src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_1-e1724249253744-1003x1024.jpg\" alt=\"\" class=\"wp-image-27615\" style=\"width:762px;height:auto\" srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_1-e1724249253744-1003x1024.jpg 1003w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_1-e1724249253744-294x300.jpg 294w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_1-e1724249253744-768x784.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_1-e1724249253744.jpg 1363w\" sizes=\"(max-width: 1003px) 100vw, 1003px\" \/><\/figure>\n\n\n\n<p>Charlie spotyka si\u0119 r\u00f3wnie\u017c z neurologiem, kt\u00f3ry sprawdza jego parametry \u017cyciowe, omawia jego histori\u0119 medyczn\u0105 i umiej\u0119tno\u015bci oraz przeprowadza badanie fizyczne i neurologiczne. Podczas tej wizyty wype\u0142niam szereg kwestionariuszy, aby uzyska\u0107 wgl\u0105d w uczucia, komunikacj\u0119 i aktywno\u015b\u0107 Charliego. Poniewa\u017c Charlie cierpi na epilepsj\u0119, wype\u0142niamy dzienniczek, w kt\u00f3rym odnotowujemy ostatnie napady i czy wymagane by\u0142y jakiekolwiek leki ratunkowe lub inne interwencje.<\/p>\n\n\n\n<p>Podczas ka\u017cdej podr\u00f3\u017cy Charlie ma pobieran\u0105 krew i przechodzi badanie EEG, kt\u00f3re mierzy jego og\u00f3ln\u0105 aktywno\u015b\u0107 m\u00f3zgu i rejestruje jego reakcje na bod\u017ace wzrokowe i s\u0142uchowe. W przeciwie\u0144stwie do diagnostycznego EEG, Charlie mo\u017ce nosi\u0107 specjalny czepek do bada\u0144. Zdecydowanie woli ten czepek, poniewa\u017c elektrody mo\u017cna szybko przymocowa\u0107 do jego sk\u00f3ry g\u0142owy, unikaj\u0105c czasoch\u0142onnego procesu mocowania ka\u017cdej z nich. Z za\u0142o\u017conym czepkiem Charlie sp\u0119dza oko\u0142o 15 minut ogl\u0105daj\u0105c filmy i s\u0142uchaj\u0105c serii d\u017awi\u0119k\u00f3w.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"768\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_3-1024x768.jpg\" alt=\"\" class=\"wp-image-27625 lazyload\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_3-1024x768.jpg 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_3-300x225.jpg 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_3-768x576.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_3-1536x1152.jpg 1536w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2024\/08\/Charlie_NHS_3.jpg 1920w\" data-sizes=\"(max-width: 1024px) 100vw, 1024px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 1024px; --smush-placeholder-aspect-ratio: 1024\/768;\" \/><\/figure>\n\n\n\n<p>Niekt\u00f3re testy s\u0105 rzadsze. Niedawno Charlie wzi\u0105\u0142 udzia\u0142 w te\u015bcie pupilometrycznym, aby zmierzy\u0107 reakcj\u0119 jego oczu na \u015bwiat\u0142o. Lekarz u\u017cy\u0142 ma\u0142ego urz\u0105dzenia do rejestrowania reakcji wzrokowej Charliego podczas ogl\u0105dania film\u00f3w eksperymentalnych. Podczas jednej z pierwszych wizyt Charlie przeszed\u0142 znieczulenie do nak\u0142ucia l\u0119d\u017awiowego w celu pobrania p\u0142ynu m\u00f3zgowo-rdzeniowego i pr\u00f3bki sk\u00f3ry. Nak\u0142ucie l\u0119d\u017awiowe b\u0119dzie powtarzane co sze\u015b\u0107 miesi\u0119cy.<\/p>\n\n\n\n<p>Wizyty s\u0105 bardzo pracowite, ale zesp\u00f3\u0142 badawczy dok\u0142ada wszelkich stara\u0144, aby nic nie sprawia\u0142o wi\u0119kszych trudno\u015bci. Po ka\u017cdej wizycie koordynator bada\u0144 dzwoni do nas, aby upewni\u0107 si\u0119, \u017ce Charlie ma si\u0119 dobrze i nie mia\u0142 \u017cadnych niepo\u017c\u0105danych reakcji na testy. Ka\u017cda wizyta trwa zwykle dwa dni i powtarzamy j\u0105 co trzy miesi\u0105ce. Testy s\u0105 przeprowadzane w ten sam spos\u00f3b podczas ka\u017cdej wizyty, aby naukowcy mogli bada\u0107 chorob\u0119 w czasie. Charlie jest odwa\u017cny podczas test\u00f3w i generalnie podchodzi do wszystkiego na luzie. Pomaga to, \u017ce wszyscy pracuj\u0105cy nad badaniem traktuj\u0105 go z tak\u0105 trosk\u0105. Jako rodzic dowiedzia\u0142em si\u0119 wi\u0119cej o moim synu i zespole duplikacji genu MECP2, bior\u0105c udzia\u0142 w badaniu, a nasza rodzina jest szcz\u0119\u015bliwa, \u017ce mo\u017ce przyczyni\u0107 si\u0119 do bada\u0144.<br><\/p>","protected":false},"excerpt":{"rendered":"<p>Charlie est l&rsquo;un des enfants participant \u00e0 l&rsquo;\u00e9tude de l\u2019\u00e9volution naturelle (NHS) men\u00e9e par Ionis Pharmaceuticals aux \u00c9tats-Unis. L&rsquo;\u00e9tude a d\u00e9but\u00e9 en octobre 2023 et se d\u00e9roule actuellement dans 5 [&hellip;]<\/p>","protected":false},"author":1,"featured_media":27620,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[87],"tags":[],"class_list":["post-27559","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Aper\u00e7u sur la NHS : Comment Charlie contribue-t-il \u00e0 la recherche ? - DupMECP2<\/title>\n<meta name=\"description\" content=\"Charlie is one the children participating in the natural history study (NHS) conducted by Ionis Pharmaceuticals in the US. 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