Gyűrűkromoszóma

Üdv Mindenkinek, aki a bejegyzésemet elolvassa :-)Kislányom 2008. okt. 5-én született, panaszmentes terhességből, időre, de nagyon pici méretekkel (2340 g, 42 cm, 29 cm-es fejkörfogat).Mivel a feje kicsi volt, ezért genetikai vizsgálatra küldtek, ahol vérvétel után 1 hónappal megszületett a diagnózis: 13-as gyűrűkromoszómája van. Azt sem tudtuk, mi ez, sosem érdekelt a genetika, biológiából ugyan jó voltam, de nem orvosi pályára készültem... Elkezdtem az utánajárást, de sajnos - magyar nyelven - az interneten nem sokat találtam erről a születési rendellenességről - viszont kromoszóa rendellenességben már nagyon otthon vagyok... Sikerült egy beszélgetésen részt vennem egy genetikus prof-fal, aki gyakorlatilag ugyanazt mondta el, amit az internetről össze tudtam vadászni: fejlődésben mindig el lesz a gyerekem maradva a kortársaktól, valószínűleg értelmileg is akadályozott lesz, de hogy mennyire, azt nem lehet megmondani. Minden attól függ, a gyűrűvé alakult kromoszómából mekkora darab törött le (ha letört egyáltalán). Egyébként meg a továbbiakban nincs szükség arra, hogy genetikai tanácsadásra járjunk, mert a gyerek ránézésre biztos, hogy nem örökölte, ez fogantatáskor így alakult, és ezzel már a genetikusok nem tudnak mit kezdeni, ez már van... Ezekkel a szavakkal zárta a prof. a beszélgetést (egyébként rendes volt, de azért ez nem esett jól...). Eztán tehát magunkra maradtunk, a szakember sem tudott semmi felhasználhatót mondani. Szerencsére a gyermekorvosunk nagyon jó, nagyon kedves és segítőkész, mindenben próbál a segítségemre lenni (jelenleg homeopátiás bogyókat ajánlott, mert egy konferencián azt hallotta, hogy segít a fejlődésben elmaradott gyermekeknek, hogy jobban fejlődjenek. Hát most próbálkozunk, hátha a picur jobban fog enni).A kislányomon egyelőre azon kívül, hogy igen pirinyó még mindig (jelenleg kb. 58 cm, és nemrégen túllépte a 4 kg-ot, vmint az 5 hónapos kort), egyelőre semmi nem látszik. Gügyög, nevetgél, a fejlesztéseknek (DSGM, konduktor, itthoni foglalkozások) köszönhetően forog önállóan mindkét irányba (néha segíteni kell egy picit neki), és most már a mászásra próbálják "ráhangolni". Hogy az értelmi állapota milyen lesz, állítólag 2-3 éves korára kiderül. Egyelőre még jól fejlődik, figyel mindenkire (emberekre, hangokra), keresi a szemkontaktust, úgyhogy még nagyon reménykedem, hogy nem lesz túl nagy baja. Hallottam már több helyről (többek közt a genetikustól is), hogy a gyűrűkromoszóma szintén igen ritka rendellenesség (betegség...?), ő személy szerint 13-as gyűrűkromoszómásról még nem hallott. Én már hallottam olyan gyűrűkromoszómás gyerekről, aki a napi feladatait jól ellátja, de a tanulással problémák vannak, és olyanról is, aki jól tanul, jól sportol. Szeretnék olyanokra rátalálni, akiknek gyűrűkromoszómás gyermekük van (vagy esetleg saját maguknak van gyűrűkromoszómájuk), hogy tapasztalatot cserélhessünk, átadhassák, megoszthassák velünk azt, amit tudnak, tapasztaltak. Ha esetleg olyan szülőkre/emberekre találnék, akiknek 13-as gyűrűkromoszójámuk van, annak külön örülnék. De persze annak is nagyon örülök, ha vki vmi jól használható tapasztalatot, ötletet ad nekem, vagy egyszerűen csak hozzáfűznivalója van ehhez a betegséghez. És természetesen mindenkinek szívesen segítek abban, amiben tudok, saját tapasztalataimat is szívesen megosztom mindenkivel.Üdvözlettel: Eszter

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gyűrűkromoszóma

Az én kislányomnak 15-ös gyűrűkromoszómája van. Felvehetnénk a kapcsolatot ha gondolod!

Szia!

Szia, Anonymus!
Puszta véletlenből tévedtem újra erre, de örülök, hogy írtál, és felajánlottad, hogy felvegyük egymással a kapcsolatot. e-mail címem: eszter.szoke75@gmail.com Ha gondolod írj, és akkor közelebbi infót is adok magunkról :) üdv, Eszter
 

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Szia!!

Most találtam meg ezt az oldalt.Testvéremnek 2013 októberében született kislánya akinek kisfejű lett de keresték az okát nagyon nem látszik rajta semmi.Most 2014 március 27-én genetikai vizsgálat során derült ki a 13-as gyűrűkromoszóma hibája.Jelemleg 5 hónapos kicsit le van maradva a többiektől.De sok mindent mi sem tudunk.Ők Németországban élnek Düsseldorfban ott az országban nincs is ilyen beteg azt mondták a világon 20 ilyen eset van.Meg adom az email cimét légyszi amit itt fennt irtál küld el neki is és tudtok egymásnak irni is az esetekről.
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