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Kedves mindenki, aki a naplómat olvassa! Örülök, hogy megtaláltam ezt az oldalt, mert itt legalább leírhatom azt a kálváriát, amit az elmúlt másfél évben bejártam. És talán a tapasztalataimmal segítségére lehetek még valakinek...31 éves vagyok.29 éves koromig soha semmilyen bajom nem volt, nem voltam beteg sohasem. Másfél évvel ezelőtt aztán egyik napról a másikra, nem bírtam megtartani a fejemet, görcsösen húzódott hátra, főleg állás és járás közben. Járás közben az eget bámultam és  bámulom ma is.Először reumatológusokkal próbálkoztam, fizikoterápia, izomlazító injekciók, ingeráram kezelés, mindezek hatástalannak bizonyultak. Az egyik maszek reumatológus javasolt, egy szintén maszek neurológust, hogy vizsgáltassam meg vele magam. Az orvos neurológiai kivizsgálást javasolt, be is feküdtem egy hétre a megyei kórházba.  A szemészeti vizsgálat negatív lett. Az MRI fémlerakódásra utaló neurodegeneratív elváltozásokat mutatott. A vérem szérum réz szintje magasabb volt a normálisnál, a diagnózis tehát: Wilson kór, réz anyagcsere zavar!Szerencsére az iwiw-en megtaláltam a Wilson kórosok klubot, és érdeklődtem a többiektől. Megdöbbentem, mert senkinek nem volt hasonló tünete, mint nekem.2009. februárjában beadtam az OEP-hez a gyógyszerártámogatási igényemet, de az engedély megjövetelét nem akartam megvárni, minél előbb gyógyszerhez  akartam jutni, és Szlovákiából kezdtem el a gyógyszeremet meghozni, ami havi szinten 40 ezer forintot jelentett, az útiköltséggel együtt, de nem kellett hozzá még egy recept sem. Közben jártam fel Budapestre egy hepatológus professzorhoz, aki ezeket a betegeket országos szinten kezeli. Ő mutációs vizsgálatot végzett, ami negatív lett, megszervezett, és az anyagi hátterét is előteremtette egy különleges szekvenálásos génmutációs vizsgálatnak is, amely szintén negatív lett. (Ezúton is köszönöm a segítséget Professzor Úr!)Tehát nagyon kevés érv szólt a Wilson kór mellett.A hónapok teltek, az OEP engedély csak nem akart megjönni, a diagnózist alátámasztó vizsgálatok hiányoztak. Például májbiopszia. Szeptemberben ismét befektettek a kórházba májbiopszia céljából. Ezt a vizsgálatot addig azért nem végezték el, mert a májértékeim jók voltak. Ekkor pedig azért nem, mert már több, mint fél éve szedtem a réz megkötő gyógyszert.Több Wilson kórban szenvedő beteget megismertem és egyre biztosabb voltam benne, hogy én nem vagyok az. Októberben megkaptam a gyógyszerengedélyem!Azonban a megyei kórház neurológiáján hiába kértem, nem adtak más kórházba beutalót. A háziorvosom, és egy maszek neurológus segítségével idén januárban eljutottam egy budapesti neurológus professzorhoz, aki a papírjaim és az MR felvétel alapján kimondta, hogy nem vagyok Wilson kóros! Valószínűnek tartotta, hogy vas lerakódások vannak az agyamban, amelyek az én életkoromban természetesnek tekinthetők, ezek nincsenek összefüggésben a nyakammal. Szerinte Botox injekcióval kezelhető a nyakam, de ez egy másik, hosszú történet.Ekkor a gyógyszer szedését és a szigorú rézdiétát egyik napról a másikra abbahagytam.Különböző fórumokba irogattam, próbáltam tanácsot kérni, és válaszolt az ország másik végében élő és dolgozó neurológus, hogy feküdjek be egy alapos kivizsgálásra az ő klinikájukra. Természetesen örömmel igent mondtam. A megismételt laborvizsgálatok, a vizeletgyűjtés, az ismételt szemészet bebizonyította, hogy valóban nem vagyok Wilson kóros.Az MR-en viszont ugyanúgy megvoltak a fémlerakódások az agyamban. Most vas tárolási betegségre gondolnak.- Szóba jöhet kb. 5 féle betegség, ebből 3-at eleve kizártak, mert a vizsgálati eredményeim jók lettek. Egy vizsgálat van jelenleg folyamatban, ennek eredménye egy hónap múlva várható. Ha ez is negatív, akkor a vérmintát OEP engedéllyel és finanszírozással genetikai vizsgálatra Németországba küldik majd ki. Az orvosom annyit mondott, hogy jobban jártam volna, ha Wilson!Kaptam a kórházban botox injekciót, kicsit javult a fejtartásom, de közel sem normális.Szóval hónapok kérdése és megtudom, hogy egy nagyon ritka, talán gyógyíthatatlan betegségben szenvedek, vagy ugyanott leszek ahonnan másfél évvel ezelőtt elindultam.Hát ennyi lenne dióhéjban az én történetem.

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