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Mi is

Kisfiam 9 éves és már születésekor nézegették, hogy valami eltérhet, de igazából csak most, 8-9 éves korában merült fel a Noonan gyanúja.
Terhességem alatt felmerült a Down-szindróma gyanúja, de magzatvíz vizsgálat után kiderült, nincs ilyen gond.
Születése után rögtön feltűntek pici eltérések és azóta is fokozatosan tűnnek fel:
vastagabb nyaki redő, egyik lábujja görbe, szélesebb mellkas, tábolabb ülő szemek, lejjebb lévő fülek, mindig foltos a lába, van egy folt az egyik karján, göndör, haj, tarkón lehúzódó hajvonal, rövidlátó, alacsony növés, orbitális lúdtalp.
Kezdetben nem érdekelt senkiit, azt mondták képzelődöm. Igazából csak most vettek komolyan, hogy a 6 éves öccse teljesen másképp néz ki és mind súlyban, mind magasságban lehagyta.
Szerencsére nagyobb egészségügyi problémája eddig nem volt. Nagyon okos kisfiú, bár figyelemzavara van.
Tavaly nyár elején elmentünk egy endokrinológushoz, hogy vajon miért alacsony a gyerek. Ő mondta, hogy szerinte Noonan. Decemberre (!) kaptunk időpontot genetikára. Ot vettek tőle vért. Először megvizsgálták nem kromoszómarendellenesség-e (nem értem miért, hisz volt magzatvízvételem). Az negatív lett, így most -elvileg - a genetikai vizsgálatra várunk, hogy vajon Noonan-e.

Jó lenne tartani a kapcsolatot más hazai Noonanos gyerekek szüleivel. Esetleg felnőtt "betegekkel".
Nincs erre esetleg egy csoport valahol? Facebookon például....

Noonan

Kedves előttem szólók!

A nővérem kisfiának szerintem Noonan szindrómája van, de legalább is nagyon sok tünete stimmel: rejtett heréjűség, alacsony növés, alacsonyan ülő fülek, közellátás és a legfeltűnőbb, hogy a bőre tele van apró barna foltokkal. Viszont tudtunkkal nincs baj a fülével és a szívével sem. Eddig a neurofibromatózisra gyanakodtunk, ebben az irányban vizsgálták, de ott nem derült ki semmi baj. Ma találtam erre a betegségre, annak ellenére, hogy orvos vagyok és a nevét már hallottam az egyetemen, de azóta nem találkoztam vele.
Csak biztatni szeretnélek benneteket, hogy az unokaöcsém nagyon kis mozgékony és értelmes, okos 10 éves kisfiú és kb. csak nekem tűnt fel, hogy a sok apró jel mögött azért lehet valami, de mások nem is veszik észre.
(Persze, amint látom, nem egészen egyforma betegek tartoznak ebbe a betegcsoportba, van, akiknek ennél sokkal súlyosabb az állapotuk.)

Noonan szindróma

Kedves Sorstársam!
Szeretném felvenni veled a kapcsolatot, mert egyszerűen (Hála Istennek) alig találni ilyen betegségben szenvedő embert! Remélem, hogy leveled óta a kislányodat már megműtötték és minden a lehető legjobban alakul :)

Zalán most volt két éves. A terhesség alatt vastag nyaki redőt mértek (3/3), melynek folyománya esetleg Down szindróma, szív problémák és egy sem nem fiú-sem nem lány genetikai betegség lehetett volna a jóslatok szerint. A hasi szúrás után kiderült, hogy nincs Down kór, a szívét ellenőrizték így időre 41 hétre megszületett zalán. Az első fájástól a megérkezésig össz-vissz 100 perc alatt és burokban született 3 hónaposan látszott, hogy nem fordul egyik irányba, így Dévény tornára mentünk, ahol is kiderült, hogy nyakban feszes, de alapvetően egy elég erősen Hypotóniás kisfiú., 12 hónapos volt amikor elkezdett mászni.Sajnos 9 hónapos korára észrevettem, hogy nem nő és nem hízik. Nem szerettem volna annyiban hagyni a dolgot így mostanra kiderült, hogy Noonan szindróma gyanúja merült fel (jelenleg is várjuk a genetikai vizsgálat eredményét) Sajnos a neten nagyon kevés információ van erről a betegségről és máshol sem találkoztak még ilyen betegségben szenvedő gyermekkel vagy felnőttel nagyon E betegség jellemzői a rövid nyak, gótikus szájpad, enyhe mentális retardáció, rövidebb élettartam (remélem, hogy ez nem lesz így!!!), nem leszálló here, szív problémák. Sajnos az anyagi helyzetünk egyre nehezebb és eddig mindenki azt mondta, hogy nem vagyunk jogosultak emelt családi pótlékra, mert hogy csak sok kis baja van (fura, mert én ezeket elég nagy bajnak érzem, dehát én csak az anyukája vagyok, igaz?) Jelenleg is járunk TSMT tornára, és a Korai Fejlesztő központba. Zalán szemében én látom a szikrát és mivel egy nagyon kis okos, kűzdő gyermeknek látom én is igyekszem megtenni mindent a lehető legjobb életminőség eléréséért.

Szeretném megkérdezni, hogy neked mit mondtak az orvosok? Az életminőségről, a várható élettartamról? A fejlesztésről, óvodáról iskoláról?

Hát röviden ennyit magunkról és kívánok jó egészséget, kitartást és nagyon sok örömet a csemetékben!

Noonan

Sziasztok,mi is hasonló cipőben járunk,a genetika eredményére várunk,teljesen kivagyok.Még a hogyan és miérteket keresem,nem tudok belenyugodni és remélem nem is kell...Nálatok megjött az eredmény már???Az én kisfiam egy éves,a szeme állásáról és az elmaradt súlyáról gyanítják.Etetni sem nagyon tudom.A net tényleg csak a tüneteket írja le,de valaki tud arról valamit,hogy ez milyen életminőséget vagy hátrányokat jelent majd,ha beigazolódik?????

Kedves Anonymus! Tudok

Kedves Anonymus!

Tudok mesélni a hátrányokról, fejleményekről. Tudok mesélni a belenyugvásról is. Facebook-on fenn vagyok, e-mail címem siebenburger7@yahoo.co.uk. Skype is rendelkezésre áll.

Tisztelettel,

Bráde Loránd

Noonan

Szeretném veled felvenni a kapcsolatot,közösségi oldalon megtalálsz:Vargáné Lehóczki Anikó
Abszolút ugyanígy állunk mi is,beszélhetnénk róla!!!!

Noonan szindróma

Kedves Sorstársak!

A nevem Bráde Loránd. Noonan szindrómával született kislányunk, Sára, sajnos csak 3 hónapig volt közöttünk, azt hősiesen végigküzdötte.

Szeretném felhívni a figyelmet a www.facebook.com/groups/rasopathies közösségre, ahonnan naprakész információhoz lehet jutni a gyermekekkel kapcsolatban. Némi angol nyelvtudással mindent meg lehet kérdezni több, mint 600 gyakorló szülőtől, olyan tippeket lehet kapni, amelyeket orvosoktól nem igen lehet hallani, hiszen legtöbbjük könyvből ismeri a betegséget, vagy talán először tőlünk hall róla. Életreszóló barátságokat lehet kötni. Bár a kislányunk nem él, a Noonan családnak azóta is tagjai vagyunk.

Hamarosan el kezdek készíteni egy honlapot, amelyre a betegséggel kapcsolatos információt fogok feltölteni, illetve nagy szeretettel várom minden szülő jelentkezését, aki szeretné megosztani tapasztalatait, hogy segítsünk azoknak, akik hasonlóan hozzám és a feleségemhez azokban a napokban, elkeseredetten és tanácstalanul kapkodnak, hogy valmi használható információhoz jussanak.

e-mail: siebenburger7@yahoo.co.uk