I fa te hian heng ang hmel danglamna hi a nei em? Treacher Collins Syndrome chungchang hi han sawi ila!

I hria em, a chang chuan kan naupang te te hi an pian tirh hian an hmel, beng leh mit ah inthlak danglamna te te nen he khawvelah hian an lo kal thin. Hei hi kan hmuh hian nu leh pa te hian hlauhna leh lungkhamna nasa tak kan nei thin hi thil pangngai tak a ni. Vawiin hian hetiang dinhmun hmuh tur awm lo, mahse hriat tur pawimawh tak kan sawi dawn a ni. Treacher Collins Syndrome tih a ni a . He hming hi i hriat chuan a mak deuhin a lang thei a, mahse awlsam takin i hrethiam ang u.

Treacher Collins Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Treacher Collins syndrome hi a awm lo hle a, genetic condition a ni. I naute beng, mit, hmui leh hmui lian leh te, a pianzia leh a awmna hmun a tidanglam thin. Heng inthlak danglamna te hian i naute tan hnute pek a ti harsa thei a, thawk a hahdam a, a hriat chian a ti harsa thei bawk. Mandibulofacial dysostosis an ti bawk. Chu hming chu a buaithlak deuh a ni lawm ni? Chuvangin Treacher Collins syndrome hi hmang mai ila.

I fain he natna a lan chhuah dan hi a fiah lo hle a, hriat theih loh khawpa na tak thlengin a awm thei . Treacher Collins syndrome vei naupang tam tak chu an hmai dik lo, cleft palate ang chi siamthat nan operation an nei thin. Naupang thenkhat chuan hriatna hloh avangin enkawlna an mamawh thei bawk.

Mahse, lungngai suh . Enkawlna \ha tak leh damdawi lam enkawlna \ha tak an neih chuan heng naupangte hian nun famkim leh hrisel takin an nung thei a ni . A pawimawh ber chu hei hi hriat hmasak a, enkawl tan (early intervention) . Chutiang a nih loh chuan naupang chuan harsatna a nei thei a, chu chuan dam chhung damdawi lam enkawl a ngai dawn a ni.

Hetiang dinhmun hian khawvel puma naupang 50,000 zinga pakhat vel a vei a, chu chu a tlem hle tihna a ni.

Treacher Collins Syndrome natna lan chhuah dan chu engte nge ni?

Treacher Collins syndrome vei naupangte hian hmai chi hrang hrang an nei a. Chung zingah chuan:

• Mitmeng chu hnuai lam hawia tilt ang maiin a lang: Mit chu a lungngai deuhin a lang.
• Cheekbones hi a te a, a flat bawk: A hmui hi a lang chiang tawk lo.
• Lower jaw te zawk: Doctor te pawhin hei hi ``micrognathia'' an ti bawk.
• Beng a te deuh emaw, a pianzia a danglam emaw: A chang chuan beng awmna hmun pawh a danglam thei bawk.
• Mitmengah hian cut ang chi hnah te tak te: Hei hi mitmeng coloboma an ti a.

Naupangin heng mize pakhat emaw, a aia tam emaw a nei thei. Heng mizia zawng zawng hi naupang tinah hian a awm vek lo.

Engvangin nge Treacher Collins Syndrome hi a lo awm?

Zirchiangtute sawi dan chuan a chhan ber chu a niGenetic danglamna (genetic variation) a ni. Hetiang dinhmun hi kan taksaa thil tenau gene an tihte inthlak danglamna engemaw zat avanga lo awm a ni.

• A châng chuan, chu chu naupang chanve vêlah , chhûngkaw zînga mi (nu, pa, a nih loh leh chhûngte hnai tak) chuan he natna hi a neih chuan naupang pawhin a vei thei a ni.
• Mahse, a châng chuan a chang chuan a thleng thei a, chhûngkaw chanchin engmah a awm lo . Chu chu beisei loh takin a thleng thei tihna a ni.

Hetiang dinhmun avang hian eng harsatna nge awm thei?

Treacher Collins syndrome vei naupangte hian harsatna an nei thei a, chungte chu:

• Hriatna hloh: Hei hi beng kawng a zim emaw, a awm loh vang emaw a ni thei. Beng lairil ruh te te pawh a awm thei bawk.
• Thâwk harsa: Hmai ruh, a bikin hmui leh hnar a lo ṭhan loh chuan thawk harsatna a thlen thei a ni. Hei hi naupang tê tê ṭhenkhatah chuan a na thei hle.
• Cleft palate: Hei hian nausen laiin hnute pek a harsat phah thei a, hnute hi hnute hnek laiin hnar chhungah a lut thei a ni. Nausen a lo upat deuh deuh chuan thu sawi leh sawi thiam a harsat phah thei a ni. Nausen tê têin hnute hnek leh in a harsat huna nuin a lungngaihzia hi han ngaihtuah teh.

Doctor-te hian engtin nge hei hi an hriat?

Damdawi inah nau piang thar endikna pangngaiah doctor-te chuan hei hi an ringhlel thei a ni. I naute hmel lan dan an hmuh a, Treacher Collins syndrome an rinhlelh chuan genetics specialist hnenah an refer ang che . A dinhmun dik tak hriat chian nan test dang an ti leh thei bawk.

Treacher Collins Syndrome hi eng enkawlna nge ni?

Hei hi naupang hrang hrangah enkawl dan a inang lo . A chhan chu naupang zawng zawng dinhmun a inang vek lo a, mi zawng zawng hian enkawl dan inang an mamawh vek dawn lo.

Naupan lai atanga enkawlna tum ber chu naupang hriselna tihchangtlun leh nitin hnathawh, ei leh in, thawk, leh hriatna te awlsam zawka siam a ni

• Thâwk awlsam zawk nan operation hmasa a ngai mai thei. Thil na tak ṭhenkhatah chuan naupangte chu tracheostomy , an thawk chhuah theih nâna an kawr aṭanga tube dah a ngai pawh a ni thei.
• Chu bâkah, naupang tam tak chuan an hmai pianzia leh hnathawh ṭhat leh nân reconstructive surgery vawi khat emaw, a aia tam emaw an mamawh a ni.
• Naupang chu a upa deuh tawh a, a tlangpuiin kum sawm leh pariat atanga kum sawmhnih vel a nih chuan an duh chuan cosmetic surgery an ngaihtuah thei a ni.

Reconstructive Surgery hmang hian eng nge tih thin?

Heng surgery te hi naupang hmai a structural abnormalities siamthatna tur te, symptoms tihziaawmna tur te, naupang hriselna tihchangtlunna tur te a ni. Naupang dinhmun a zirin a hnuaia operation te hi a ngai thei a ni:

• Jaws: Jaw te hi a inrem fel a, ha te chu a awmna tur dik takah a awm chuan ei leh in leh thawk lama harsatna te chu a reh thei a ni. Hei hian kum tam tak chhung daih thei tur enkawlna ruahmanna a mamawh thei a ni.
• Kawng: Naupang thenkhat chuan an cleft palate siamthat nan operation an mamawh ngei ang . Mi dangte chuan ha an tam chuan an ha lakchhuah a ngai mai thei a, a nih loh leh an ha tihdik nan braces (orthodontics) an neih a ngai mai thei bawk.
• Hnar: Hnar chhungah tissue tam lutuk a awm a, chu chuan thawk a tibuai a nih chuan operation hian a kalna kawng a hawng thei a, thawk a ti awlsam thei bawk.
• Beng: Naupang natna lan chhuah dan azirin ear tube dah theih a ni (hei hian beng lai takah boruak a lut thei a, hriatna a ti tha zawk), hriatna hmanrua hman theih a ni a, pawn lam beng siam thar lehna tur surgery pawh tih theih a ni bawk. Hearing aid hi a bik takin sikul kal thei naupangte tan chuan a pui thei hle a ni.
• Mit: Naupang thenkhat chu mit hnuai lam mittui tlak (eyelid coloboma) siamthat nan operation an mamawh thin . Hei hian mit venhimna a pe a, hmel a titha bawk.
• Cheekbones: Cheekbones te hi a te a, ei leh thawk harsa a nih chuan a hmun chu a pianzia siam danglam tura operation neih hian a pui thei a ni. Hei hian ruh (bone grafts) hman a huam thei bawk.

Hetiang dinhmun hi ven theih a ni em?

Hei hi genetic changes avanga lo awm a nih avangin vanduaithlak takin ven theih a ni lo . Mahse, i chhungkuaa mi tu emaw hian Treacher Collins Syndrome a nei a nih chuan, emaw, he natna hi i neih chuan fa i neih hmain genetic counselling lak hmasak phawt a tha. Tichuan, fa neih i tum a nih chuan chu naupang tan chuan hei hi a hlauhawmzia i teh thei ang. He counseling hian rilru lamah pawh a inbuatsaih theih nan a pui bawk ang che.

Treacher Collins Syndrome hi a dam kim thei ang em?

He natna hi a dam kim thei lo . A chhan chu genetic condition a nih vang a ni. Mahse, lungkham a ngai lo , a chhan chu he thil avanga harsatna lo awm, hmêl inthlak danglamna, thawk harsatna, leh hriatna lama harsatna te hi a tam zawk chu operation leh enkawlna dang hmangin siamthat theih a ni .

Heng naupangte dam chhung hi engzat nge ni?

Hei hi nu leh pa tam takin an harsatna lian ber a ni. Thu lawmawm tak chu an fain a hun takah enkawl dan dik a dawng a nih chuan midang ang bawkin nun pangngai, tha takin an nung thei a ni.. Enkawlna leh enkawl zui zel hian natna lan chhuah dan a thunun thei a, nunphung a tichangtlung thei bawk. Mahse, a hmaa kan sawi tawh ang khan, enkawl loh chuan naupangte hian harsatna an nei thei a, chu chu dam chhung damdawi lam enkawl ngai a ni.

Engtin nge ka fa hi ka enkawl ang?

I fain Treacher Collins Syndrome a vei tih i hriat chuan i rilru a buai a, i hlauthawng a, i lungkham bawk. Nakin lawkah eng ang enkawlna nge a mamawh ang tih leh i fain engtin nge a hmachhawn ang tih i ngaihtuah mai thei.

Mahse, nangmah chauh i ni lo tih hre reng ang che. I doctor, nurse leh medical staff dangte chu tanpui leh kaihruai turin an awm reng a ni. Nang leh i naute chu an lo enkawl reng ang che a, enkawlna tur ruahmanna leh i tih tur chungchang pawh an hriattir reng ang che.

Hriat reng tur pawimawh tak chu Treacher Collins Syndrome hian naupang zirlai, thiltih, a pum puia thanlenna, thluak thanlenna leh finna a nghawng lo tih hi a ni. I fa chu inkhelh tir te, hobby thar enchhin te, an chhehvel chhui te, leh naupang dangte nena inpawh tawnna te fuih hian an thanlenna tur leh an inpawh zawk theih nan a pui ang. An theihna hi ngaihthah suh.

Doctor hnenah eng zawhna nge ka zawh ang?

I naute hriselna leh hmel lan dan chungchangah zawhna tam tak neih hi thil pangngai tak a ni. Doctor i tlawh hunah hetiang zawhna hi i zawt thei ang:

• "He syndrome hian engtin tak nge ka fa hi a nghawng ang?"
• "Hei hian eng damdawi lam dinhmun khirh tak nge a thlen theih?"
• "Ka fa hian zai a ngai dawn em ni? Chutiang a nih chuan eng ang surgery nge tih leh engtikah nge tih tur?"
• "Hetiang dinhmun hian ka fate hmasawnna pangngai a nghawng dawn em ni?"
• "Tunge min pui thei tur specialist dangte chu?" (e.g., beng, hnar leh rilru lam thiam, ha enkawltu, thusawi thiam)

He natna hi pian hmain hriat theih a ni em?

Ni e, a chang chuan a theih tho. Doctor-te chuan naupai lai hian nausen pianphung chu routine ultrasound hmangin an enfiah thin. I naute hmel lan dan chu ultrasound-ah second trimester , i naupai atanga thla 4-6 vel atang khan hmuh theih a ni. Heng scan-ah hian Treacher Collins Syndrome natna khirh tak tak hmuhchhuah theih a ni. Mahse scan-ah chuan hmuh tur a awm lo mai thei a, a bik takin symptoms fiah lo tak tak a awm chuan.

Treacher Collins Syndrome vei te hian fa an nei thei ang em?

Ni e, a theih ngei ang. Treacher Collins Syndrome vei tan chuan nupui pasal neiin fa pangngai a neih chuan harsatna a awm lo. Mahse, he natna hi i neih chuan i fa pawhin gene hmanga a kai darh theihna chance 50% (sawmnga leh sawmnga) a awm .Awle. Chu chu naupang zawng zawngah a thleng dawn tihna a ni lo, mahse a thleng thei tih erawh a awm thei. Chuvangin, a hmaa kan sawi tawh ang khan genetic counseling lak a pawimawh hle.

Hei hian ka fa thluak a nghawng dawn em ni?

No. Treacher Collins Syndrome hian naupang thluak thanlenna emaw, a rilru put hmang emaw a nghawng tih scientific evidence a awm lo . Heng naupangte hian naupang dang ang bawkin an zir thei a, talent an lantir thei bawk.

Mahse, a hmaa kan sawi tawh ang khan naupang thenkhat chuan hriatna lama harsatna an nei thei a ni. He hriatna lama harsatna hian hmasawnna engemaw zat a tikhawtlai thei a , chu chu thusawi tihkhawtlai ang chi te, a bik takin an thusawi tan tirh hian. Mahse, hengte pawh hi hearing aid leh speech therapy ang chi enkawlna hmangin nasa takin tihchangtlun theih a ni .

A tawp berah chuan thil hriat reng tur...

Kan mithmuhah chuan kan fate zawng zawng hi an hlu, famkim an ni. Khawvelin chutianga hmu se kan duh vek a ni. Treacher Collins Syndrome hi naupang tan chuan harsatna a ni a, mahse an hlutna leh theihna a ti tlem lo.

Treacher Collins Syndrome hi damdawi awm lo mah se, doctor-te chuan thil tam takah an pui thei a ni. Surgery (craniofacial reconstructions ang chi) leh thawk harsatna, hriatna hloh, leh hmel inthlak danglamna thenkhatte tanpui nan enkawlna dang a awm bawk.

A pawimawh ber chu, he zinkawngah hian nangmah chauh i ni lo . Hetiang naupang enkawl dan tawnhriat nei doctor, nurse leh hriselna lama thawktu ngilnei, lainatna nei tak tak an awm a. Nang leh i fa chu i kalna apiangah an pui ang a, an kaihruai ang. Enkawlna dik leh hmangaihna nena enkawl a nih chuan heng naupangte pawh hian nun chak tak, hlim tak leh awmze nei takin an nung thei a ni.

` Treacher Collins Syndrome, hmai lama harsatna, thlahtu natna, hriatna lama harsatna, thawk harsa, reconstructive surgery