{"id":534,"date":"2023-11-08T22:53:38","date_gmt":"2023-11-08T22:53:38","guid":{"rendered":"https:\/\/liveunlimitedpku-dev-001.azurewebsites.net\/hu-hu\/?page_id=534"},"modified":"2025-01-28T15:06:24","modified_gmt":"2025-01-28T15:06:24","slug":"nicolo","status":"publish","type":"page","link":"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/nicolo\/","title":{"rendered":"Nicolo"},"content":{"rendered":"<div id=\"acf-block-655214fe71cc1\" class=\"hero hero-no-overlay hero-large-first-para\">\n            <div class=\"hero-background-image hero-background-image-desktop\" style=\"background-image: url(https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/wp-content\/uploads\/sites\/13\/2024\/05\/nicolo-v4.jpg?v=0.74);\"><\/div>\n\t    <div class=\"hero-background-image hero-background-image-mobile\" style=\"background-image: url(https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/wp-content\/uploads\/sites\/13\/2024\/05\/nicolo-v4.jpg?v=0.74);\"><\/div>\n    \t<div class=\"overlay\"><\/div>\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t\t<div class=\"hero-content\">\n\t\t\t    \t\t\t\t    <span class=\"section-title\"> Az \u00e9let bonyolult, ha nincsenek meg a sz\u00fcks\u00e9ges eszk\u00f6z\u00f6k<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t    <h1>NICOLO\n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t    <p>Olaszorsz\u00e1g<\/p>\n<p>Nicol\u00f2t csak 18 h\u00f3napos kor\u00e1ban diagnosztiz\u00e1lt\u00e1k PKU-val. Ez szokatlan dolog a PKU betegek k\u00f6z\u00f6tt, mivel manaps\u00e1g a legt\u00f6bb beteget \u00fajsz\u00fcl\u00f6tt kor\u00e1ban sz\u0171rik ki, m\u00e9g miel\u0151tt b\u00e1rmely k\u00e1ros hat\u00e1s jelentkezhetne.<\/p>\n\t\t\t\t\t\t\t\t\n                <p class=\"inline-buttons\">\n                                                        <\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div id=\"acf-block-655214fe71f68\" class=\"block next-previous block-tight-top\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n            <div class=\"link link-prev\">\n                                    <p><a class=\"button button-text button-arrow button-arrow-left\" href=\"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/video-tortenetek\/\" target=\"_self\">Vissza az \u00f6sszes video t\u00f6rt\u00e9nethez<\/a><\/p>\n                            <\/div>\n            <div class=\"link link-next\">\n                            <\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-655214fe7213a\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-655214fe72282\" class=\"block-wysiwyg\">\n            <h2>\u201cA testem m\u00e9g hivatalos PKU diagn\u00f3zis n\u00e9lk\u00fcl is mutatta a t\u00fcneteket\u201d id\u00e9zi fel.<strong>\u201d<\/strong><\/h2>\n<p><strong>\u201cP\u00e9ld\u00e1ul, mikor j\u00e9gkr\u00e9met ettem, a testem visszautas\u00edtotta. Mikor iskola ut\u00e1n szokv\u00e1nyos \u00e9lelmiszert fogyasztottam, viselked\u00e9si probl\u00e9m\u00e1im voltak. Szomor\u00fa voltam, \u00e9s t\u00f6bbet panaszkodtam.\u201d<\/strong><\/p>\n<p>H\u00f3napok m\u00faltak el, \u00e9s Nicol\u00f2 \u00e1llapota nem javult annak dac\u00e1ra, hogy mam\u00e1ja sz\u00e1mos genetikai k\u00f6zpontot v\u00e9gigj\u00e1rt vele Olaszorsz\u00e1gban a v\u00e1laszt keresve. Ezalatt Nicol\u00f2 izomzat\u00e1nak \u00e9s besz\u00e9d\u00e9nek \u00e1llapota jelent\u0151sen leromlott, \u00e9s v\u00e9g\u00fcl m\u00e1r sem j\u00e1rni, sem besz\u00e9lni nem tudott a rehabilit\u00e1ci\u00f3s terapeut\u00e1k l\u00e1togat\u00e1sa dac\u00e1ra. V\u00e9g\u00fcl az \u0151 terapeut\u00e1ja javasolta, hogy pr\u00f3b\u00e1lj\u00e1k meg a firenzei ritka betegs\u00e9gekre szakosodott pedi\u00e1triai gy\u00f3gy\u00e1szati k\u00f6zpontot, ahol a PKU-val kapcsolatos diagn\u00f3zis v\u00e9g\u00fcl megsz\u00fcletett.<\/p>\n<p>A k\u00e9s\u0151n diagnosztiz\u00e1lt PKU vesz\u00e9lye, hogy a betegs\u00e9g nem mindig mutatja azonnal a t\u00fcneteket, ez\u00e9rt a gyerekek \u00e9veken \u00e1t fogyaszthatj\u00e1k a k\u00e1ros feh\u00e9rj\u00e9t, m\u00e9g miel\u0151tt a t\u00fcnetek jelentkezn\u00e9nek. Addigra azonban az agyk\u00e1rosod\u00e1s m\u00e1r megt\u00f6rt\u00e9nik.<\/p>\n<p><strong>\u201cAz \u00e9n tapasztaltom nagyon elt\u00e9r a t\u00f6bbi k\u00e9s\u0151n diagnosztiz\u00e1lt beteg\u00e9t\u0151l\u201d mondja. Besz\u00e9ltem bar\u00e1tokkal Eur\u00f3pa-szerte \u00e9s m\u00e1s, k\u00e9s\u0151n diagnosztiz\u00e1lt betegekkel, \u00e9s mindny\u00e1juknak tart\u00f3s agyk\u00e1rosod\u00e1suk lett, ez\u00e9rt a j\u00e1r\u00e1ssal neh\u00e9zs\u00e9geik vannak. \u00c9n nagyon szerencs\u00e9s voltam, hogy a testem ilyen gyorsan reag\u00e1lt.\u201d<\/strong><\/p>\n<p>A diagn\u00f3zisr\u00f3l \u00e9rtes\u00fclve Nicol\u00f2 anyja \u00e9s nagysz\u00fclei azonnal elind\u00edtott\u00e1k az AMMeC betegsz\u00f6vets\u00e9get, \u00e9s \u00f6sszek\u00f6t\u00f6tt\u00e9k egym\u00e1ssal a PKU-val \u00e9l\u0151ket Olaszorsz\u00e1gb\u00f3l, Eur\u00f3p\u00e1b\u00f3l \u00e9s m\u00e9g Kanad\u00e1b\u00f3l is. Szerencs\u00e9re ez azt jelenti, hogy Nicol\u00f2 egy t\u00e1mogat\u00e1st ny\u00fajt\u00f3 beteg-h\u00e1l\u00f3zatban tal\u00e1lta mag\u00e1t, ami k\u00fcl\u00f6n\u00f6sen utaz\u00e1sok alkalm\u00e1val igen fontos.<\/p>\n<p>A PKU-val \u00e9l\u0151k sz\u00e1m\u00e1ra az utaz\u00e1s gyakran akad\u00e1lyt jelent, mivel k\u00fclf\u00f6ld\u00f6n korl\u00e1tozott t\u00e1mogat\u00e1si szolg\u00e1ltat\u00e1s \u00e1ll rendelkez\u00e9sre, \u00e9s minden \u00fat emberfeletti m\u00e9rt\u00e9k\u0171 el\u0151k\u00e9sz\u00fcletet ig\u00e9nyel, illetve ha hiba cs\u00faszik a folyamatba, annak vesz\u00e9lyes k\u00f6vetkezm\u00e9nyei lehetnek, k\u00fcl\u00f6n\u00f6sen, mivel Nicol\u00f2 csak \u00e9trendje seg\u00edts\u00e9g\u00e9vel tartja karban PKU-j\u00e1t. \u201eSemmir\u0151l sem felejtkezhetem el. Kem\u00e9ny dolog.\u201d<\/p>\n<p>Nicol\u00f2 \u00e9let\u00e9nek egy m\u00e1sik aspektusa, hogy nem engedi a betegs\u00e9gnek, hogy h\u00e1tr\u00e1ltassa tanulm\u00e1nyaiban.<\/p>\n<p>A sienai egyetem joghallgat\u00f3jak\u00e9nt Nicol\u00f2 eur\u00f3pai jogot tanul. Rem\u00e9nyei szerint tud\u00e1s\u00e1t felhaszn\u00e1lhatja majd jelent\u0151s jogszab\u00e1lyi v\u00e1ltoztat\u00e1sok megval\u00f3s\u00edt\u00e1s\u00e1ra a ritka betegs\u00e9ggel \u00e9l\u0151k k\u00f6z\u00f6ss\u00e9ge \u00e9rdek\u00e9ben.<\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-655214fe72e82\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                <h3>\u201c\u00c9rdekes a jog ir\u00e1nti szenved\u00e9lyemet a t\u00e1rsadalmi csoportok ir\u00e1nti szenved\u00e9lyemmel \u00f6tv\u00f6zni. \u00dagy \u00e9rzem, sz\u00fcks\u00e9g van egy k\u00f6z\u00f6s t\u00f6rv\u00e9nyre a genetikai probl\u00e9m\u00e1kkal k\u00fczd\u0151k sz\u00e1m\u00e1ra.\u201d<\/h3>\n                                                                                    <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                                                                                                                                                                                                    \n                                    \n                                                                                                                \n                                    \n                                    <figure>\n                                        <div class=\"image image-rounded\">\n                                                                                            <img decoding=\"async\" class=\"\" src=\"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/wp-content\/uploads\/sites\/13\/2023\/11\/Nicolo-06518-768x512-1.jpg?v=0.74\" alt=\"\" \/>                                                                                    <\/div>\n                                                                            <\/figure>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-655214fe72ed8\" class=\"block wrapped-content\">\n    <div class=\"wrapper\">\n        <div class=\"inner-wrapper\">\n                \n<div id=\"acf-block-655214fe72f0c\" class=\"block-wysiwyg\">\n            <p>Azonban annak dac\u00e1ra, hogy elt\u00f6k\u00e9lten k\u00f6veti a PKU \u00e9trendj\u00e9t, tudja, hogy a betegs\u00e9g hat\u00e1ssal van a tanulm\u00e1nyaira, k\u00fcl\u00f6n\u00f6sen, ha PHE szintje t\u00fal magas, vagy t\u00fal alacsony.<\/p>\n<p><strong>\u201cMikor a szint t\u00f6k\u00e9letes, olyankor nagyon j\u00f3 szellemi \u00e1llapotban vagyok, \u00e9s j\u00f3l teljes\u00edtem a feladataimat. De mikor a szint t\u00fal magas, vagy t\u00fal alacsony, nagyon nehezemre esik a gondolkoz\u00e1s.\u201d<\/strong><\/p>\n<p>\u00d6sszess\u00e9g\u00e9ben azonban Nicol\u00f2 \u00fagy tartja, hogy a PKU-a egy\u00e9nis\u00e9g\u00e9nek r\u00e9sze, \u00e9s megfelel\u0151 kontroll\u00e1l\u00e1ssal \u00e9s az eg\u00e9szs\u00e9g\u00fcgyi szolg\u00e1ltat\u00f3kt\u00f3l kapott t\u00e1mogat\u00e1ssal a PKU betegek \u00e9lhetnek teljes \u00e9letet.<\/p>\n<p>Ez az a dolog, amit nem sz\u00e9gyell \u00e9let\u00e9vel kapcsolatban.<\/p>\n<p>A PKU-val kapcsolatos kih\u00edv\u00e1sok ismer\u0151jek\u00e9nt Nicol\u00f2 rem\u00e9li, hogy a j\u00f6v\u0151ben nagyobb figyelem \u00f6sszpontosul a ritka genetikai rendelleness\u00e9gekre Eur\u00f3p\u00e1ban, \u00e9s annak biztos\u00edt\u00e1s\u00e1ra, hogy mindenkinek azonos hozz\u00e1f\u00e9r\u00e9se legyen a t\u00e1mogat\u00e1si szolg\u00e1ltat\u00e1sokhoz.<\/p>\n<p><strong>\u201cOlaszorsz\u00e1gban 20 r\u00e9gi\u00f3nk van, amelyek mind elt\u00e9r\u0151 k\u00e9pet mutatnak. Eur\u00f3pa-szerte sok orsz\u00e1gban szenvednek a betegek.\u201d<\/strong><\/p>\n<p>A PKU-val \u00e9l\u0151k sz\u00e1m\u00e1ra a kih\u00edv\u00e1s legf\u0151bb r\u00e9sze a gyermekkori \u00e9s a feln\u0151ttkori ell\u00e1t\u00e1s k\u00f6z\u00f6tti kapcsolat hi\u00e1nya. Mivel a rendelleness\u00e9get sz\u00e9les k\u00f6rben gyerekbetegs\u00e9gnek tekintik, sok tizen\u00e9ves \u00fagy halad a feln\u0151ttkor fel\u00e9, hogy egy\u00e1ltal\u00e1n nem l\u00e1tja, mi v\u00e1r r\u00e1 egy sz\u00e1m\u00e1ra d\u00f6nt\u0151 fontoss\u00e1g\u00fa \u00e9letkorban.<\/p>\n<p><strong>\u201cA PKU nem gyerekbetegs\u00e9g. Az\u00e9rt kezelik \u00fagy, mert a feln\u0151tteket egy\u00e1ltal\u00e1n nem veszik sz\u00e1m\u00edt\u00e1sba. \u00c9vente egyszer elv\u00e9gzik a v\u00e9rvizsg\u00e1latot, \u00e9s az \u00e9v h\u00e1tralev\u0151 r\u00e9sz\u00e9ben tudnak az \u00e1llapotukr\u00f3l.\u201d<\/strong><\/p>\n    <\/div>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div id=\"acf-block-655214fe72fa0\" class=\"block split-content equal-bias bottom-border\" data-muted-autoplay=\"false\">\n\t<div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n\t\t                                                                <div class=\"content-block first-block\">\n                                                                                                                                                                                                                                                <div class=\"video-poster\">\n\t\t\t                            <a class=\"modal-video permitted\" href=\"https:\/\/player.vimeo.com\/video\/1050872311\" style=\"background-image: url(https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/wp-content\/uploads\/sites\/13\/2023\/11\/2023-11-13-12h32m24s837-1500x844.png);\">Play<\/a>\n\t\t                            <\/div>\n                                    \n                                                                                                                    \n                                                                                                                \n\t\t                                                                            <\/div>\n                    \n                                            <div class=\"content-block second-block\">\n                                                                                                <h3>Nicol\u00f2 \u00fagy hiszi, hogy a feln\u0151tteknek t\u00f6bb szoci\u00e1lis t\u00e1mogat\u00e1sra \u00e9s orvosaikkal gyakoribb szem\u00e9lyes tal\u00e1lkoz\u00f3kra lenne sz\u00fcks\u00e9g\u00fck.<\/h3>\n<p><em>\u201cHa l\u00e9tre tudjuk hozni a szem\u00e9lyes kapcsolatot a feln\u0151ttekkel, \u00e9s az \u00e9vi egy alkalomn\u00e1l gyakrabban l\u00e1thatj\u00e1k orvosaikat, akkor olyan szem\u00e9lyes kapcsolat alakulhat ki, ami hatalmas k\u00fcl\u00f6nbs\u00e9get eredm\u00e9nyez. Nagyon neh\u00e9z a PKU-t \u00f6nmag\u00e1ban kezelni.\u201d<\/em><\/p>\n                                                                                    <\/div>\n                                                \t\t<\/div>\n\t<\/div>\n<\/div>\n\n<div id=\"acf-block-655214fe72ff8\" class=\"block next-previous\">\n    <div class=\"wrapper\">\n\t\t<div class=\"inner-wrapper\">\n            <div class=\"link link-prev\">\n                                    <p><a class=\"button button-text button-arrow button-arrow-left\" href=\"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/antoine\/\" target=\"_self\">Antoine t\u00f6rt\u00e9ne<\/a><\/p>\n                            <\/div>\n            <div class=\"link link-next\">\n                                    <p><a class=\"button button-text button-arrow\" href=\"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/raquel\/\" target=\"_self\">Raquel t\u00f6rt\u00e9nete<\/a><\/p>\n                            <\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-534","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Nicolo - BioMarin Live Unlimited HU-HU<\/title>\n<meta name=\"description\" content=\"Az \u00c9ld az \u00e9leted kamp\u00e1ny r\u00e9szek\u00e9nt Eur\u00f3pa sz\u00e1mos pontj\u00e1ra utaztunk, hogy tal\u00e1lkozzunk a PKU-val \u00e9l\u0151 feln\u0151ttekkel, \u00e9s hallgassuk meg t\u00f6rt\u00e9neteiket, kih\u00edv\u00e1saikat \u00e9s azt, hogy milyen int\u00e9zked\u00e9seket rem\u00e9ln\u00e9nek az ell\u00e1t\u00e1s jav\u00edt\u00e1sa \u00e9rdek\u00e9ben. 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