{"id":30,"date":"2021-05-09T21:42:50","date_gmt":"2021-05-09T20:42:50","guid":{"rendered":"https:\/\/leomosolyaert.hu\/?page_id=30"},"modified":"2021-12-11T14:40:45","modified_gmt":"2021-12-11T13:40:45","slug":"tortenetunk","status":"publish","type":"page","link":"https:\/\/leomosolyaert.hu\/en\/tortenetunk\/","title":{"rendered":"Our story"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Le\u00f3 was born on 2019.12.16, with 39 weeks + 5 days and an uneventful pregnancy. <\/p>\n\n\n\n

CTG anom\u00e1lia miatt cs\u00e1sz\u00e1rmetsz\u00e9ssel j\u00f6tt vil\u00e1gra, 9\/10-es Apgart kapott, l\u00e1tsz\u00f3lag minden rendben ment. Az els\u0151 \u00f3r\u00e1ban \u00e9desapja mellkas\u00e1n pihent, de m\u00e1r ott is el\u00e9g nyugtalan volt, \u00e9s amikor v\u00e9g\u00fcl a n\u0151v\u00e9rek \u00e1tvett\u00e9k, hamarosan g\u00f6rcstev\u00e9kenys\u00e9g gyan\u00faj\u00e1val az intenz\u00edv oszt\u00e1lyra ker\u00fclt. Innent\u0151l vizsg\u00e1latok sora k\u00f6vetkezett, ahol orvosai mindent megtettek \u00e9rte: sz\u00fclet\u00e9se napj\u00e1n m\u00e1r koponya MRI-t csin\u00e1ltak a SOTE-n, m\u00e1snap EEG-t a Heim P\u00e1l neurol\u00f3gi\u00e1j\u00e1n, mindkett\u0151t a f\u0151orvosok v\u00e9lem\u00e9nyezt\u00e9k. Rengeteg laborvizsg\u00e1lat, neurol\u00f3giai vizsg\u00e1lat, EEG, ultrahang, r\u00f6ntgen \u00e9s lumb\u00e1l\u00e1s k\u00f6vetkezett. Le a kalappal a magyar \u00e1llami eg\u00e9szs\u00e9g\u00fcgy el\u0151tt (ilyen is van!), Le\u00f3 \u00e9lete els\u0151 4 napj\u00e1ban t\u00fal volt annyi vizsg\u00e1laton, ami egy \u00e1tlagos feln\u0151ttnek f\u00e9l-1 \u00e9v\u00e9be telt volna a v\u00e1r\u00f3list\u00e1k miatt. Nem tudt\u00e1k volna ezt jobban csin\u00e1lni egyik m\u00e1sik orsz\u00e1gban sem a vil\u00e1gon, ami az orvostudom\u00e1ny jelenlegi szintje szerint el\u00e9rhet\u0151, azt mi megkaptuk. Amikor Le\u00f3 intenz\u00edv ell\u00e1t\u00e1st m\u00e1r nem ig\u00e9nyelt, \u00e1tker\u00fclt\u00fcnk a B\u00f3kay I.-es Gyermekklinik\u00e1ra. Semelyik tov\u00e1bbi vizsg\u00e1lat nem mutatott elt\u00e9r\u00e9st, azonban furcsa, g\u00f6rcsszer\u0171 „mozg\u00e1sviharai” nem m\u00faltak el, egy\u00e9rtelm\u0171 volt, hogy valami nincs rendben. V\u00e9rmint\u00e1t vettek a csal\u00e1d mindh\u00e1rom tagj\u00e1t\u00f3l genetikai tesztel\u00e9shez, hogy a gyan\u00fat meg lehessen er\u0151s\u00edteni. <\/p>\n\n\n\n

After 1 month of examinations but no confirmed diagnosis, Leo was released from the clinic. The next 4 months he has visited multiple hospitals all around Budapest searching for answers, but no reassuring answer was found. Since his condition was stable, the official recommendation was always the same: be patient and wait for the results of the genetic test, no development is needed.<\/p>\n\n\n\n

6 h\u00f3napos kor\u00e1ban volt egy v\u00edzv\u00e1laszt\u00f3. Mivel nem indult be a mozg\u00e1sfejl\u0151d\u00e9se, a „nincs sz\u00fcks\u00e9g fejleszt\u00e9sre” \u00e1ll\u00e1spont megv\u00e1ltozott, azt javasolt\u00e1k mihamarabb kezdj\u00fcnk el j\u00e1rni, de k\u00f6zbesz\u00f3lt a Covid pand\u00e9mia, minden fejleszt\u00e9s sz\u00fcnetelt.

Le\u00f3 m\u00e1r 7 h\u00f3napos volt, amikor szint\u00e9n a Covid miatt hossz\u00fa cs\u00fasz\u00e1s ut\u00e1n megj\u00f6tt a genetikai teszt (klinikai exom szekven\u00e1l\u00e1s) eredm\u00e9nye: de novo c.1120A>G, p.(Thr374Ala) pontmut\u00e1ci\u00f3 a KCNA2 g\u00e9nben. Ez a betegs\u00e9g nagyon ritka, \u00f6sszesen 4 dokument\u00e1lt eset volt ekkor a vil\u00e1gban Le\u00f3n k\u00edv\u00fcl. A mut\u00e1ci\u00f3 „de novo”, teh\u00e1t a sz\u00fcl\u0151k nem hordozz\u00e1k a genetikai elt\u00e9r\u00e9st, de az ism\u00e9tl\u0151d\u00e9sre van 1% k\u00f6r\u00fcli es\u00e9ly ivarsejtes mozaicizmus fenn\u00e1ll\u00e1sa eset\u00e9n. A betegs\u00e9g kialakul\u00e1s\u00e1r\u00f3l senki nem tehet, ez a „v\u00e9letlen” vagy a nagy sz\u00e1mok t\u00f6rv\u00e9nye, ki hogy nevezi. M\u00e1r a fogantat\u00e1s pillanat\u00e1ban, vagy az azt k\u00f6vet\u0151 \u00f3r\u00e1kban, napokban eld\u0151lt. Lehet valakinek b\u00e1rmilyen eg\u00e9szs\u00e9ges az \u00e9letm\u00f3dja, szedheti a legjobb terhesvitamint, j\u00e1rhat a vil\u00e1g legjobb n\u0151gy\u00f3gy\u00e1sz\u00e1hoz, vagyonokat k\u00f6lthet a terhess\u00e9g sor\u00e1n genetikai tesztekre, sajnos akkor is sz\u00fclethet egy gyermek nem v\u00e1rt, ritka betegs\u00e9ggel. Az orvostudom\u00e1ny m\u00e9g nem tud mindent kisz\u0171rni. A jelenleg terhess\u00e9g sor\u00e1n v\u00e9gzett rutin vizsg\u00e1latokkal ez a betegs\u00e9g sem kimutathat\u00f3. Mi is megcsin\u00e1ltunk minden k\u00f6telez\u0151 (\u00e9s v\u00e1laszthat\u00f3) genetikai sz\u0171r\u0151vizsg\u00e1latot, semmi nem mutatott elt\u00e9r\u00e9st. <\/p>\n\n\n\n

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Le\u00f3 2019.12.16-\u00e1n, id\u0151ben sz\u00fcletett (39+5), egy viszonylag esem\u00e9nytelen terhess\u00e9g ut\u00e1n. CTG anom\u00e1lia miatt cs\u00e1sz\u00e1rmetsz\u00e9ssel j\u00f6tt vil\u00e1gra, 9\/10-es Apgart kapott, l\u00e1tsz\u00f3lag minden rendben ment. Az els\u0151 \u00f3r\u00e1ban \u00e9desapja mellkas\u00e1n pihent, de m\u00e1r ott is el\u00e9g nyugtalan volt, \u00e9s amikor v\u00e9g\u00fcl a n\u0151v\u00e9rek \u00e1tvett\u00e9k, hamarosan g\u00f6rcstev\u00e9kenys\u00e9g gyan\u00faj\u00e1val az intenz\u00edv oszt\u00e1lyra ker\u00fclt. Innent\u0151l vizsg\u00e1latok sora k\u00f6vetkezett, ahol orvosai […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-30","page","type-page","status-publish","hentry"],"yoast_head":"\nT\u00f6rt\u00e9net\u00fcnk - Le\u00f3 Mosoly\u00e1\u00e9rt Alap\u00edtv\u00e1ny<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/leomosolyaert.hu\/en\/tortenetunk\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"T\u00f6rt\u00e9net\u00fcnk - Le\u00f3 Mosoly\u00e1\u00e9rt Alap\u00edtv\u00e1ny\" \/>\n<meta property=\"og:description\" content=\"Le\u00f3 2019.12.16-\u00e1n, id\u0151ben sz\u00fcletett (39+5), egy viszonylag esem\u00e9nytelen terhess\u00e9g ut\u00e1n. 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