{"id":1993,"date":"2017-09-30T18:37:06","date_gmt":"2017-09-30T16:37:06","guid":{"rendered":"https:\/\/www.zivotsesyndromem.cz\/?p=1993"},"modified":"2017-09-30T18:37:06","modified_gmt":"2017-09-30T16:37:06","slug":"beatka-tcs-cz","status":"publish","type":"post","link":"https:\/\/www.zivotsesyndromem.cz\/?p=1993","title":{"rendered":"Beatka – TCS (CZ)"},"content":{"rendered":"

Be\u00e1tka<\/strong> se narodila 9.3.2016 v 8:55 v \u010cesk\u00fdch Bud\u011bjovic\u00edch. T\u011bhotenstv\u00ed<\/strong> bylo bezprobl\u00e9mov\u00e9<\/strong>, \u017e\u00e1dn\u00e9 v\u00fdrazn\u00e9 zdravotn\u00ed pot\u00ed\u017ee jsem nem\u011bla, krom\u011b zv\u00fd\u0161en\u00e9 hladiny cukru, kterou jsem korigovala \u00fapravou j\u00eddeln\u00ed\u010dku a kontrolami na diabetologii s pravideln\u00fdmi odb\u011bry krve. Rodila jsem po term\u00ednu \u2013 40+5 tt. Porod<\/strong> prob\u00edhal hladce bez komplikac\u00ed<\/strong>, p\u0159esto\u017ee byl bolestiv\u00fd, tak to pro m\u011b bylo to nejhez\u010d\u00ed rande s partnerem doposud :). Okam\u017eikem porodu jsme se bohu\u017eel dozv\u011bd\u011bli, \u017ee dcera nen\u00ed zdrav\u00e1, ale m\u00e1 vrozenou v\u00fdvojovou vadu \u2013 Treacher- Collins syndrom (TCS)<\/strong><\/a>. DNA anal\u00fdza<\/strong> prok\u00e1zala, \u017ee partner je nositelem TCS, a\u010dkoliv nem\u00e1 \u017e\u00e1dn\u00e9 projevy. Matka a sestra ale jsou nositelky TCS.<\/span><\/p>\n

Be\u00e1tka m\u00e1 hor\u0161\u00ed podobu TCS \u2013 od narozen\u00ed m\u011bla probl\u00e9my s d\u00fdch\u00e1n\u00edm<\/strong> – narodila se s nepr\u016fchodn\u00fdm nosem, hrudn\u00edk se hodn\u011b propadal a celkov\u011b se j\u00ed obt\u00ed\u017en\u011b d\u00fdchalo. Nem\u00e1 dovyvinut\u00e9 u\u0161i<\/strong> a od narozen\u00ed m\u00e1 poklesl\u00e9 v\u00ed\u010dko lev\u00e9ho oka<\/strong> a celkov\u011b hor\u0161\u00ed mimiku v t\u00e9to polovin\u011b obli\u010deje.<\/span><\/p>\n

Prvn\u00ed m\u011bs\u00edce \u017eivota<\/strong> Be\u00e1tky byly kru\u0161n\u00e9. Den po porodu byla transportov\u00e1na do Motolsk\u00e9 nemocnice, kde zpr\u016fchodnili nos a obratem ji transportovali zp\u011bt do \u010cB. Prvn\u00edch 14 dn\u00ed po porodu, byla Be\u00e1tka um\u00edst\u011bna na JIP, kam jsem ka\u017ed\u00fd den doch\u00e1zela po 3 hodin\u00e1ch s odst\u0159ikan\u00fdm mate\u0159sk\u00fdm ml\u00e9kem a sledovala ji alespo\u0148 p\u0159es inkub\u00e1tor. Postupn\u011b jsem se mohla zapojit do p\u00e9\u010de o dcerku \u2013 b\u011b\u017en\u00e9 \u00fakony jako je p\u0159ebalov\u00e1n\u00ed, krmen\u00ed p\u0159es sondu, klok\u00e1nkov\u00e1n\u00ed<\/strong>… Ty chv\u00edle, kdy jsem ji mohla dr\u017eet byly n\u00e1dhern\u00e9. Tak jako asi ka\u017ed\u00e1 m\u00e1ma jsem se necht\u011bla pohnout, abych sv\u016fj uzl\u00ed\u010dek na hrudn\u00edku neprobudila. A posouvala jsem o\u010dima hodiny nazp\u00e1tek, aby ta chv\u00edle neskon\u010dila a nemusela jsem ji vr\u00e1tit zp\u011bt.<\/span><\/p>\n

Po 14-ti dnech,<\/strong> kdy\u017e u\u017e Be\u00e1tka<\/strong> nemusela b\u00fdt na kysl\u00edku a zvl\u00e1dala si d\u00fdchat sama<\/strong>, jsem se do\u010dkala a dcerku mi p\u0159elo\u017eili na pokoj, kde jsem s n\u00ed mohla b\u00fdt 24 hodin denn\u011b. Asi po 10ti dnech\u00a0 jsme byly p\u0159elo\u017eeny do Motola<\/strong><\/a> v Praze, kde m\u011bla prob\u011bhnout v\u00fdm\u011bna speci\u00e1ln\u00edch trubi\u010dek v nose, kter\u00e9 udr\u017eovaly nos\u00edk pr\u016fchodn\u00fd, a dal\u0161\u00ed vy\u0161et\u0159en\u00ed sluchu. Bohu\u017eel po v\u00fdm\u011bn\u011b nostril (trubi\u010dky v nose) Be\u00e1tka prod\u011blala dechovou z\u00e1stavu a byla j\u00ed provedena tracheostomie jako \u017eivot zachra\u0148uj\u00edc\u00ed \u00fakon. Nastaly op\u011bt muka. Be\u00e1tka m\u011bla komplikace spojen\u00e9 s dyslokac\u00ed tracheostomick\u00e9 kanyly a do\u0161lo k desaturac\u00edm a op\u011btovn\u00e9 dechov\u00e9 z\u00e1stav\u011b, po kter\u00e9 byla na t\u00fdden uvedena do um\u011bl\u00e9ho sp\u00e1nku, aby se t\u011blo m\u011blo \u0161anci l\u00e9pe zhojit a regenerovat. Asi po 14ti dnech hr\u016fzy, zda to Be\u00e1tka zvl\u00e1dne, jsme se do\u010dkali radostn\u00e9 zpr\u00e1vy v podob\u011b p\u0159elo\u017een\u00ed Be\u00e1tky na kojeneck\u00e9 odd\u011blen\u00ed, kde u\u017e jsem s n\u00ed op\u011bt mohla b\u00fdt j\u00e1 24 hodin denn\u011b, a ne pouze p\u00e1r minut jako na ARU.<\/span><\/p>\n

N\u00e1sleduj\u00edc\u00edch asi 5 t\u00fddn\u016f jsme se s p\u0159\u00edtelem u\u010dili zach\u00e1zet s tracheostomi\u00ed, jak se o\u0161et\u0159uje kanyla\u00a0 a\u00a0 jak se zach\u00e1z\u00ed s d\u00edt\u011btem, kter\u00e9 m\u00e1 tracheostomii. Za\u010dala jsem s Be\u00e1tkou cvi\u010dit Vojtovku a pomalu ji umo\u017e\u0148ovat p\u00e1st kon\u00edky apod.\u00a0 Nau\u010dila jsem Be\u00e1tku p\u00edt z lahvi\u010dky moje ml\u00e9ko, aby se mohla zbavit sondy. Na za\u010d\u00e1tku kv\u011btna jsme kone\u010dn\u011b mohli vz\u00edt Be\u00e1tku ven, by\u0165 jen po are\u00e1lu nemocnice. Neurologick\u00e1 vy\u0161et\u0159en\u00ed uk\u00e1zala, \u017ee Be\u00e1tka na\u0161t\u011bst\u00ed d\u00edky v\u010dasn\u00e9 resuscitaci nebude m\u00edt neurologick\u00e9 n\u00e1sledky.<\/strong><\/span><\/p>\n

25. kv\u011btna 2017<\/strong> jsme d\u00edky zdravotn\u00edmu stavu Be\u00e1tky kone\u010dn\u011b mohly vyrazit k domovu<\/strong>, kde na n\u00e1s \u010dekal nejen tat\u00ednek, ale i dv\u011b fenky- Ammy a \u017d\u016f\u017ea. Doma n\u00e1s \u010dekalo n\u00e1dhern\u00e9 uv\u00edt\u00e1n\u00ed od p\u0159\u00edtele a p\u0159\u00edbuzn\u00fdch, ale hlavn\u011b kone\u010dn\u011b mo\u017enost b\u00fdt pohromad\u011b. Doposud za n\u00e1mi p\u0159\u00edtel doj\u00ed\u017ed\u011bl 1- 2x v t\u00fddnu na p\u00e1r hodin. Velmi m\u011b mrz\u00ed, \u017ee nemohl s malou b\u00fdt tak jako j\u00e1, ale navzdory tomu m\u011b velmi podporoval a dr\u017eel nad vodou, tak jako ostatn\u011b cel\u00e1 na\u0161e rodina. Kdy\u017e za n\u00e1mi p\u0159ijel, maxim\u00e1ln\u011b se zapojoval do p\u00e9\u010de o Be\u00e1tku.<\/span><\/p>\n

N\u00e1sleduj\u00edc\u00ed m\u011bs\u00edce jsme si u\u017e\u00edvali ka\u017ed\u00e9ho dne, kdy jsme mohli b\u00fdt pohromad\u011b. V listopadu 2016 Be\u00e1tka dostala sluch\u00e1tko BAHA<\/strong><\/a>, kter\u00e9 j\u00ed umo\u017e\u0148uje sly\u0161et, jako zdrav\u00fd \u010dlov\u011bk. B\u011bhem n\u011bkolika dn\u00ed si na n\u011bj zvykla a za\u010dlo se j\u00ed l\u00edbit, \u017ee v\u0161echno sly\u0161\u00ed:).<\/span><\/p>\n

Dnes m\u00e1 Be\u00e1tka 1,5 roku<\/strong>, od r\u00e1na do ve\u010dera b\u011bh\u00e1, neposed\u00ed, je velmi muzik\u00e1ln\u00ed a vztek\u00e1 se tak, jako ka\u017ed\u00e9 zdrav\u00e9 d\u00edt\u011b v jej\u00edm v\u011bku. Pravideln\u011b doj\u00ed\u017ed\u00edme do Prahy na o\u010dn\u00ed, na u\u0161n\u00ed, na ORL v Motole.<\/strong> Be\u00e1tka je te\u010f po operaci klesl\u00e9ho v\u00ed\u010dka, kter\u00e1 by j\u00ed m\u011bla pomoct zv\u011bt\u0161it zorn\u00e9 pole. Kv\u016fli nedovyvinut\u00fdm sval\u016fm v jedn\u00e9 polovin\u011b obli\u010deje bude chvilku trvat, ne\u017e na to p\u0159ijde, ale douf\u00e1me, \u017ee v\u00fdsledek se brzy dostav\u00ed. Tracheostomickou kanylu u\u017e si zvl\u00e1dneme m\u011bnit doma sami, a to po t\u00fddnu. Vojtovku pomalu p\u0159est\u00e1v\u00e1me cvi\u010dit a z\u016fstav\u00e1 n\u00e1m dechov\u00e1 rehabilitace, abychom Be\u00e1tku nau\u010dili d\u00fdchat do spodn\u00edch \u017eeber a zapojovat tak dob\u0159e i br\u00e1nici.<\/span><\/p>\n

Co se t\u00fdk\u00e1 komunikace, d\u00edky BAHA<\/strong> sluchadlu na speci\u00e1ln\u00ed \u010delence, na Be\u00e1tku norm\u00e1ln\u011b mluv\u00edme, ale kv\u016fli tracheostomii nem\u016f\u017ee mluvit ona. U\u010d\u00edme se tedy v\u0161ichni znakovku<\/strong>, d\u00edky, kter\u00e9\u00a0 se dorozum\u00edme a hlavn\u011b Be\u00e1tka m\u00e1 mo\u017enost vyj\u00e1d\u0159it, co pot\u0159ebuje nebo chce. Nos se zat\u00edm udr\u017euje jak\u017e tak\u017e pr\u016fchodn\u00fd (to znamen\u00e1, \u017ee nezar\u016fst\u00e1 op\u011btovn\u011b kost\u00ed) a m\u00e1me nad\u011bji, \u017ee se Be\u00e1tka snad \u010dasem tracheostomie<\/strong> zbav\u00ed. Do t\u00e9 doby budeme znakovat a pom\u00e1hat ji zat\u00edm formou her, aby p\u0159i\u0161la na to, \u017ee m\u016f\u017ee prodechnout do nosu a obnovit hlasov\u00fd projev. Posledn\u00ed dny p\u0159ich\u00e1z\u00ed na to, \u017ee m\u016f\u017ee prodechnout p\u0159es hlasivky a vyd\u00e1vat zvuky, tak\u017ee krom\u011b kr\u00e1sn\u011b znateln\u00e9 samohl\u00e1sky E, zkou\u0161\u00ed A a celkov\u011b hejk\u00e1 a u\u017e\u00edv\u00e1 si na\u0161e fand\u011bn\u00ed a pob\u00edzen\u00ed<\/strong> k dal\u0161\u00ed vokalizaci \ud83d\ude42<\/span><\/p>\n

Syndrom nen\u00ed na rok, ani na dva, ale na cel\u00fd \u017eivot. Be\u00e1tku \u010dek\u00e1 spoustu operac\u00ed<\/strong>, kter\u00e9 j\u00ed zlep\u0161\u00ed kvalitu \u017eivota<\/strong>. Se v\u0161emi se ale \u010dek\u00e1, a\u017e se ukon\u010d\u00ed r\u016fst jednotliv\u00fdch obli\u010dejov\u00fdch \u010dast\u00ed \u2013 tj. puberta. Douf\u00e1me, \u017ee i tu nep\u0159\u00edjemnou str\u00e1nku syndromu, co\u017e je p\u0159ijet\u00ed okol\u00edm a vrstevn\u00edky, zvl\u00e1dneme. Zat\u00edm jsme se rozhodli s p\u0159\u00edtelem \u0161\u00ed\u0159it pov\u011bdom\u00ed o tomto syndromu a k\u0159i\u010det do sv\u011bta, \u017ee nejsme chud\u00e1ci<\/strong>, ale naopak si u\u017e\u00edv\u00e1me ka\u017ed\u00fd den,<\/strong> kdy jsme v\u0161ichni spolu a Be\u00e1tka se sm\u011bje<\/strong>. A j\u00e1 osobn\u011b douf\u00e1m, \u017ee j\u00ed t\u00edm to p\u0159ijet\u00ed okol\u00edm usnadn\u00edme.<\/span><\/p>\n

Co n\u00e1s je\u0161t\u011b moment\u00e1ln\u011b hodn\u011b tr\u00e1p\u00ed je fakt, \u017ee nem\u00e1me \u017e\u00e1dn\u00e9ho specialistu<\/strong>, kter\u00fd by se n\u00e1s ujal a pom\u00e1hal korigovat p\u00e9\u010di o Be\u00e1tku. Doj\u00ed\u017ed\u00edme na jednotliv\u00e1 specializovan\u00e1 pracovi\u0161t\u011b do Prahy. Tady je taky velmi d\u016fle\u017eit\u00e9 pod\u011bkovat str\u00e1nce www.\u017eivotsesyndromem.cz<\/strong><\/a> a p\u0159edev\u0161\u00edm Ev\u011b Doj\u010darov\u00e9,<\/strong><\/a> kter\u00e1 n\u00e1s odk\u00e1zala na kontakty na kliniky po \u010cR<\/strong><\/a> a dala tipy na podobn\u011b star\u00e9 d\u011bti se stejn\u00fdm syndromem. D\u00edky t\u011bmto kontakt\u016fm jsme m\u011bli podporu prvn\u00ed m\u011bs\u00edce s Be\u00e1tkou nejen od rodiny, ale i od kamar\u00e1d\u016f p\u0159es psan\u00ed – K.Pyskat\u00e1<\/strong> <\/a>a pan Slaninka.<\/span><\/p>\n

D\u00edky \u0161\u00ed\u0159en\u00ed osv\u011bty a soci\u00e1ln\u00edm s\u00edt\u00edm<\/strong><\/a> se n\u00e1m povedlo se tak\u00e9 s v\u00fd\u0161e zm\u00edn\u011bn\u00fdmi a p\u00e1r dal\u0161\u00edmi lidmi setkat v srpnu v Brn\u011b. Bylo to jedno sp\u00ed\u0161 jako rodinn\u00e9 setk\u00e1n\u00ed p\u0159\u00edbuzn\u00fdch a zn\u00e1m\u00fdch a moc se t\u011b\u0161\u00edme, \u017ee tyto srazy budou pokra\u010dovat a po\u010det \u00fa\u010dastn\u00edk\u016f bude nar\u016fstat!:) O Beatce se psalo i na HateFree<\/a> Culture<\/a>,\u00a0<\/strong> kde je i kr\u00e1tk\u00fd video rozhovor s n\u00e1mi. D\u00e1le jsme se \u00fa\u010dastnili nat\u00e1\u010den\u00ed po\u0159adu O\u010dima Josefa Kl\u00edmy<\/a>,\u00a0<\/strong>kter\u00fd byl odvys\u00edl\u00e1n 17.9.2017. Naposledy n\u00e1s oslovila region\u00e1ln\u00ed televize\u00a0\u00a0<\/strong>TV J\u00e9\u010dko, <\/strong><\/a>kter\u00e9 jsme tak\u00e9 poskytli n\u00e1\u0161 p\u0159\u00edb\u011bh.\u00a0<\/span><\/p>\n

Z\u00e1v\u011brem bych cht\u011bla je\u0161t\u011b znova vyzdvihnout celou moji i partnerovu rodinu za to, jak n\u00e1s podr\u017eeli a podpo\u0159ili, a st\u00e1le samoz\u0159ejm\u011b podporuj\u00ed:). D\u011bkuju i partnerovi, kter\u00fd se ke v\u0161emu postavil \u010delem, a nejen\u017ee m\u011b velmi podporuje, ale zcela se zapojuje do p\u00e9\u010de o Be\u00e1tku.<\/span><\/p>\n

V\u0161echny n\u00e1s to velmi stmelilo a spojilo<\/strong> a za to Be\u00e1tce ka\u017ed\u00fd den d\u011bkuji. A d\u011bkuju j\u00ed i za to, \u017ee si n\u00e1s vybrala a \u017ee tu spolu ka\u017ed\u00fd den bojujeme a st\u00e1le se u\u010d\u00edme jeden od druh\u00e9ho. Be\u00e1tka v\u0161echny odrovn\u00e1 svou p\u0159\u00edmost\u00ed, bezprost\u0159ednost\u00ed a p\u0159edev\u0161\u00edm \u00fasm\u011bvem od ucha k uchu :).\u00a0<\/strong><\/span><\/p>\n

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