Koj tus me nyuam puas muaj kev hloov pauv ntawm lub ntsej muag zoo li no? Cia peb tham txog Treacher Collins Syndrome!

Koj paub, qee zaum peb cov menyuam yaus tuaj rau hauv lub ntiaj teb no nrog kev hloov pauv me me hauv lawv lub ntsej muag, pob ntseg, thiab qhov muag thaum lawv yug los. Nws yog ib qho ib txwm rau peb ua niam txiv kom ntshai thiab txhawj xeeb heev thaum peb pom qhov no. Hnub no peb yuav tham txog qhov mob tsis tshua muaj, tab sis tseem ceeb heev uas yuav tsum paub txog. Nws hu ua Treacher Collins Syndrome . Lub npe no yuav suab me ntsis txawv thaum koj hnov ​​​​nws, tab sis cia peb nkag siab nws yooj yim.

Treacher Collins Syndrome yog dab tsi?

Hais yooj yim xwb, Treacher Collins syndrome yog ib yam mob uas tsis tshua muaj, uas yog los ntawm noob caj ces. Nws ua rau muaj kev hloov pauv ntawm qhov loj, cov duab, thiab qhov chaw ntawm koj tus menyuam lub pob ntseg, qhov muag, pob txha ntawm sab plhu, thiab lub puab tsaig. Cov kev hloov pauv no ua rau nws nyuaj rau koj tus menyuam pub niam mis, ua pa tau yooj yim, lossis hnov ​​​​lus meej. Nws tseem hu ua mandibulofacial dysostosis . Lub npe ntawd ua rau kuv tsis meej pem me ntsis, puas yog? Yog li cia peb siv Treacher Collins syndrome.

Cov tsos mob ntawm koj tus menyuam ntawm tus mob no muaj peev xwm sib txawv ntawm qhov tsis pom tseeb heev, tsis tshua pom tseeb, mus rau qhov hnyav heev . Ntau tus menyuam uas muaj Treacher Collins syndrome tau phais kom kho qhov tsis zoo ntawm lub ntsej muag, xws li lub qhov ncauj tawg. Ib txhia menyuam kuj tseem yuav xav tau kev kho mob rau kev hnov ​​​​lus tsis zoo.

Tiamsis tsis txhob txhawj . Yog tias koj kho mob kom zoo thiab nrhiav kev kho mob tsis tu ncua, cov menyuam no yuav muaj lub neej noj qab nyob zoo . Qhov tseem ceeb tshaj plaws yog nrhiav pom qhov teeb meem no thaum ntxov thiab pib kho (kev kho mob thaum ntxov) . Txwv tsis pub, tus menyuam yuav muaj teeb meem uas yuav xav tau kev kho mob mus tas li.

Tus mob no cuam tshuam txog li ib tug ntawm 50,000 tus menyuam thoob ntiaj teb, uas txhais tau tias nws tsis tshua muaj.

Cov tsos mob ntawm Treacher Collins Syndrome yog dab tsi?

Cov menyuam yaus uas muaj tus kab mob Treacher Collins syndrome muaj ntau yam ntxwv ntawm lub ntsej muag. Cov no suav nrog:

• Cov qhov muag zoo li lawv tau tig mus rau hauv qab: Nws ua rau ob lub qhov muag zoo li tu siab me ntsis.
• Cov pob txha puab tsaig me me thiab tiaj tus: Cov puab tsaig tsis zoo li pom tseeb.
• Lub puab tsaig qis me dua: Cov kws kho mob kuj hu qhov no tias "micrognathia".
• Pob ntseg me dua lossis hloov pauv duab: Qee zaum qhov chaw ntawm pob ntseg kuj tuaj yeem hloov pauv.
• Ib lub pob me me zoo li txiav rau ntawm daim tawv muag: Qhov no hu ua eyelid coloboma .

Ib tug me nyuam yuav muaj ib lossis ntau yam ntawm cov yam ntxwv no. Tsis yog txhua tus yam ntxwv no muaj tib yam hauv txhua tus me nyuam.

Vim li cas Treacher Collins Syndrome thiaj tshwm sim?

Raws li cov kws tshawb nrhiav, qhov laj thawj tseem ceeb rau qhov no yogKev hloov pauv ntawm cov noob caj noob ces. Qhov mob no tshwm sim vim muaj qee qhov kev hloov pauv ntawm cov khoom me me hu ua cov noob caj noob ces hauv peb lub cev.

• Qee zaum, uas yog, kwv yees li ib nrab ntawm cov menyuam yaus , yog tias ib tug neeg hauv tsev neeg (niam, txiv, lossis txheeb ze ze) muaj tus mob no, tus menyuam kuj tuaj yeem tau txais nws.
• Tiamsis qee zaum nws tuaj yeem tshwm sim tsis tu ncua, tsis muaj keeb kwm tsev neeg . Yog li ntawd, nws tuaj yeem tshwm sim tsis tau xav txog.

Vim muaj tus mob no, yuav muaj teeb meem dab tsi tshwm sim?

Cov menyuam yaus uas muaj Treacher Collins syndrome yuav muaj teeb meem xws li:

• Kev hnov ​​​​lus tsis zoo: Qhov no tuaj yeem tshwm sim los ntawm kev nqaim lossis ploj ntawm cov kwj dej pob ntseg. Kuj tseem yuav muaj teeb meem nrog cov pob txha me me hauv pob ntseg nruab nrab.
• Ua pa nyuaj: Qhov tsis loj hlob ntawm cov pob txha ntawm lub ntsej muag, tshwj xeeb tshaj yog lub puab tsaig thiab lub qhov ntswg, tuaj yeem ua rau ua pa nyuaj. Qhov no tuaj yeem ua rau qee tus menyuam yaus me.
• Qhov ncauj tawg: Qhov no ua rau nws nyuaj rau pub niam mis thaum nws tseem yog menyuam yaus, vim tias mis nyuj tuaj yeem nkag mus rau hauv lub qhov ntswg thaum nws nqus mis. Thaum tus menyuam loj hlob tuaj, nws tuaj yeem ua rau nws nyuaj rau hais lus thiab hais cov lus kom meej. Xav txog seb leej niam yuav tu siab npaum li cas thaum tus menyuam yaus me me muaj teeb meem nqus thiab haus mis.

Cov kws kho mob paub qhov no li cas?

Cov kws kho mob yuav xav tias qhov no thaum lub sijhawm kuaj mob menyuam mos hauv tsev kho mob. Yog tias lawv pom cov yam ntxwv ntawm koj tus menyuam lub ntsej muag thiab xav tias muaj Treacher Collins syndrome, lawv yuav xa koj mus rau tus kws tshwj xeeb txog noob caj noob ces . Lawv tuaj yeem ua qhov kev kuaj ntxiv kom paub meej tias yog tus mob tseeb.

Cov kev kho mob rau Treacher Collins Syndrome yog dab tsi?

Kev kho mob rau qhov no txawv ntawm ib tug me nyuam mus rau ib tug me nyuam . Vim tias tsis yog txhua tus me nyuam tus mob zoo ib yam, tsis yog txhua tus yuav xav tau kev kho mob zoo ib yam.

Lub hom phiaj tseem ceeb ntawm kev kho mob txij thaum yau yog los txhim kho tus menyuam txoj kev noj qab haus huv thiab ua kom yooj yim dua rau kev ua ub ua no txhua hnub, xws li noj mov, haus dej, ua pa, thiab hnov ​​​​lus .

• Tej zaum yuav tsum tau phais thaum ntxov kom ua pa tau yooj yim dua. Qee zaum mob hnyav, cov menyuam yaus yuav tsum tau muaj lub raj tracheostomy , uas yog ib lub raj uas muab tso rau hauv lawv lub caj dab los pab lawv ua pa.
• Ntxiv rau qhov ntawd, ntau tus menyuam yaus xav tau ib lossis ntau qhov kev phais kho dua tshiab kom rov qab kho lub ntsej muag thiab ua haujlwm tau zoo.
• Thaum tus me nyuam loj me ntsis lawm, feem ntau yog li kaum yim txog nees nkaum xyoo, lawv tuaj yeem xav txog kev phais kom zoo nkauj yog tias lawv xav tau.

Ua dab tsi nrog Kev Phais Kho Dua Tshiab?

Cov kev phais no yog tsim los kho cov qauv tsis zoo ntawm tus menyuam lub ntsej muag, txo cov tsos mob, thiab txhim kho tus menyuam txoj kev noj qab haus huv. Nyob ntawm tus menyuam tus mob, cov kev phais hauv qab no yuav tsum tau ua:

• Lub puab tsaig: Thaum lub puab tsaig raug teeb tsa kom raug thiab cov hniav raug teeb tsa kom raug, cov teeb meem noj mov thiab ua pa yuav raug txo kom tsawg. Qhov no yuav xav tau txoj kev npaj kho mob uas yuav kav ntev ntau xyoo.
• Qhov Ncauj: Muaj ib txhia menyuam yuav tsum tau phais kom kho qhov ncauj tawg . Lwm tus yuav tsum tau rho lawv cov hniav tawm yog tias lawv muaj cov hniav sib sau ua ke, lossis lawv yuav tsum tau siv cov hlau txuas hniav (orthodontics) los kho lawv cov hniav kom ncaj.
• Qhov Ntswg: Yog tias muaj cov nqaij ntau dhau hauv cov qhov ntswg, uas cuam tshuam rau kev ua pa, kev phais tuaj yeem qhib txoj kev thiab ua rau kev ua pa yooj yim dua.
• Pob Ntseg: Nyob ntawm seb tus menyuam muaj mob li cas, tej zaum yuav muab cov raj pob ntseg ntsaws rau hauv (qhov no yuav cia cua nkag mus rau hauv pob ntseg nruab nrab thiab ua kom hnov ​​lus zoo dua), tej zaum yuav siv cov khoom pab hnov ​​lus , lossis phais kom kho cov pob ntseg sab nraud dua tshiab. Cov khoom pab hnov ​​lus tuaj yeem pab tau zoo heev, tshwj xeeb tshaj yog rau cov menyuam kawm ntawv uas muaj hnub nyoog kawm ntawv.
• Qhov Muag: Muaj ib txhia menyuam yaus yuav tsum tau phais kom kho qhov kua muag hauv qab daim tawv muag (eylid coloboma) . Qhov no tiv thaiv lub qhov muag thiab ua kom zoo nkauj dua.
• Pob txha sab plhu: Yog tias cov pob txha sab plhu me me thiab ua rau nyuaj rau noj mov lossis ua pa, kev phais kom kho qhov chaw ntawd yuav pab tau. Qhov no kuj tseem yuav suav nrog kev siv cov pob txha txuas.

Puas tiv thaiv tau qhov teeb meem no?

Qhov no yog tshwm sim los ntawm kev hloov pauv caj ces, yog li ntawd hmoov tsis zoo tsis muaj txoj hauv kev los tiv thaiv nws . Txawm li cas los xij, yog tias ib tug neeg hauv koj tsev neeg muaj Treacher Collins Syndrome, lossis yog tias koj muaj tus mob no, nws yog ib lub tswv yim zoo kom tau txais kev sab laj txog caj ces ua ntej muaj menyuam. Tom qab ntawd, yog tias koj tab tom npaj yuav muaj menyuam, koj tuaj yeem soj ntsuam qhov kev pheej hmoo ntawm qhov no rau tus menyuam ntawd. Kev sab laj no tseem yuav pab koj npaj rau nws.

Puas kho tau Treacher Collins Syndrome kom zoo tag nrho?

Qhov mob no tsis tuaj yeem kho tau tag nrho . Vim tias nws yog ib qho mob caj ces. Txawm li cas los xij, tsis tas yuav txhawj , vim tias cov teeb meem uas tshwm sim los ntawm qhov no, xws li kev hloov pauv ntawm lub ntsej muag, kev ua pa nyuaj, thiab kev hnov ​​​​lus tsis zoo , feem ntau tuaj yeem kho tau los ntawm kev phais thiab lwm yam kev kho mob .

Cov menyuam no muaj sia nyob ntev npaum li cas?

Qhov no yog qhov teeb meem loj tshaj plaws uas ntau tus niam txiv muaj. Qhov xov xwm zoo yog tias yog lawv tus menyuam tau txais kev kho mob zoo rau lub sijhawm zoo, lawv tuaj yeem ua neej zoo li qub thiab zoo ib yam li lwm tus.Kev kho mob thiab kev saib xyuas tsis tu ncua tuaj yeem tswj cov tsos mob thiab txhim kho lub neej zoo. Txawm li cas los xij, raws li tau hais ua ntej, yog tias tsis kho, cov menyuam yaus tuaj yeem muaj teeb meem uas xav tau kev kho mob mus tas li.

Kuv yuav tsum saib xyuas kuv tus menyuam li cas?

Thaum koj paub tias koj tus menyuam muaj Treacher Collins Syndrome, nws yog ib qho ib txwm muaj uas koj yuav xav tias ntxhov siab, ntshai, thiab txhawj xeeb. Tej zaum koj yuav txhawj xeeb txog hom kev kho mob uas yuav tsum tau kho yav tom ntej thiab koj tus menyuam yuav daws li cas.

Tiamsis nco ntsoov tias koj tsis nyob ib leeg. Koj tus kws kho mob, cov kws tu mob, thiab lwm cov neeg ua haujlwm kho mob yeej nyob ntawd los pab thiab coj koj. Lawv yuav saib xyuas koj thiab koj tus menyuam tas li, thiab yuav qhia koj txog txoj kev npaj kho mob thiab yuav ua li cas tom ntej.

Qhov tseem ceeb tshaj plaws uas yuav tsum nco ntsoov yog tias Treacher Collins Syndrome tsis cuam tshuam rau tus menyuam txoj kev kawm, kev ua ub ua no, kev loj hlob tag nrho, kev loj hlob ntawm lub hlwb, lossis kev txawj ntse. Kev txhawb kom koj tus menyuam ua si, sim ua tej yam tshiab, tshawb nrhiav lawv ib puag ncig, thiab sib raug zoo nrog lwm tus menyuam yuav pab lawv loj hlob zoo thiab sib raug zoo dua. Tsis txhob saib tsis taus lawv lub peev xwm.

Kuv yuav tsum nug tus kws kho mob li cas?

Nws yog ib qho ib txwm muaj ntau cov lus nug txog koj tus menyuam txoj kev noj qab haus huv thiab qhov tsos. Thaum koj mus ntsib kws kho mob, koj tuaj yeem nug cov lus nug zoo li no:

• Tus mob no yuav cuam tshuam li cas rau kuv tus menyuam?
• Qhov no yuav ua rau muaj mob hnyav li cas?
• Puas yog kuv tus menyuam yuav tsum tau phais? Yog tias yog, yuav tsum tau phais hom twg thiab yuav tsum tau ua thaum twg?
• "Qhov mob no puas yuav cuam tshuam rau kuv tus menyuam txoj kev loj hlob li qub?"
• "Leej twg yog lwm cov kws tshwj xeeb uas tuaj yeem pab peb?" (piv txwv li, kws tshwj xeeb pob ntseg, qhov ntswg, thiab caj pas, kws phais hniav, kws kho kev hais lus)

Puas kuaj tau tus mob no ua ntej yug los?

Yog, qee zaum nws ua tau. Cov kws kho mob saib xyuas kev loj hlob ntawm tus menyuam hauv plab nrog kev kuaj ultrasound niaj hnub thaum cev xeeb tub. Koj tus menyuam lub ntsej muag tuaj yeem pom ntawm ultrasound thaum ntxov li lub hlis thib ob , kwv yees li 4-6 lub hlis rau hauv koj cev xeeb tub. Cov mob hnyav ntawm Treacher Collins Syndrome qee zaum tuaj yeem pom ntawm cov scans no. Tab sis nws yuav tsis pom txhua lub sijhawm ntawm cov scan, tshwj xeeb tshaj yog thaum muaj cov tsos mob me me.

Cov neeg uas muaj Treacher Collins Syndrome puas muaj peev xwm muaj menyuam tau?

Yog, nws yeej ua tau. Tsis muaj teeb meem rau ib tus neeg uas muaj Treacher Collins Syndrome kom yuav txiv thiab muaj menyuam li qub. Txawm li cas los xij, yog tias koj muaj tus mob no, muaj 50% (tsib caug-tsib caug) lub sijhawm uas koj tus menyuam yuav kis tau los ntawm cov noob caj noob ces.Yog. Qhov ntawd tsis tau txhais hais tias nws yuav tshwm sim rau txhua tus menyuam, tab sis muaj qhov ua tau tias nws yuav tshwm sim. Yog li ntawd, raws li tau hais ua ntej, nws yog ib qho tseem ceeb kom tau txais kev qhia txog caj ces.

Qhov no puas yuav cuam tshuam rau kuv tus menyuam lub hlwb?

Tsis yog. Tsis muaj pov thawj tshawb fawb qhia tias Treacher Collins Syndrome cuam tshuam rau kev loj hlob ntawm lub hlwb lossis kev txawj ntse ntawm tus menyuam . Cov menyuam no tuaj yeem kawm thiab qhia txog kev txawj ntse ib yam li lwm tus menyuam.

Txawm li cas los xij, raws li tau hais ua ntej lawm, qee tus menyuam yaus yuav muaj teeb meem hnov ​​​​lus. Qhov teeb meem hnov ​​​​lus no tuaj yeem ua rau qee qhov kev loj hlob qeeb , xws li kev hais lus qeeb, tshwj xeeb tshaj yog thaum lawv pib tham. Txawm li cas los xij, txawm tias cov no tuaj yeem txhim kho tau zoo heev nrog kev kho mob xws li cov khoom siv pab hnov ​​​​lus thiab kev kho mob hais lus .

Thaum kawg, tej yam uas yuav tsum nco ntsoov ...

Hauv peb lub qhov muag, peb cov menyuam txhua tus muaj nqis thiab zoo tag nrho. Peb txhua tus xav kom lub ntiaj teb pom lawv li ntawd. Treacher Collins Syndrome yog ib qho kev cov nyom rau ib tug menyuam yaus ntsib, tab sis nws tsis ua rau lawv tus nqi lossis peev xwm poob qis.

Txawm hais tias tsis muaj kev kho rau Treacher Collins Syndrome los xij, cov kws kho mob tuaj yeem pab tau ntau yam. Muaj kev phais (xws li kev kho dua lub taub hau thiab lub ntsej muag) thiab lwm yam kev kho mob los pab kho qhov teeb meem ua pa nyuaj, hnov ​​​​lus tsis zoo, thiab qee qhov kev hloov pauv ntawm lub ntsej muag.

Qhov tseem ceeb yog, koj tsis yog tib tug neeg nyob hauv txoj kev no . Muaj cov kws kho mob, cov kws tu mob, thiab lwm cov neeg ua haujlwm kho mob uas muaj kev hlub tshua thiab muaj kev paub txog kev kho cov menyuam zoo li no. Lawv yuav pab thiab coj koj thiab koj tus menyuam txhua kauj ruam ntawm txoj kev. Yog tias muaj kev kho mob zoo thiab kev saib xyuas zoo, cov menyuam no kuj tuaj yeem ua neej nyob nquag, zoo siab, thiab muaj lub ntsiab lus.

Treacher Collins Syndrome, qhov tsis zoo ntawm lub ntsej muag, cov kab mob caj ces, kev hnov ​​​​lus tsis zoo, ua pa nyuaj, phais kho dua tshiab