Yu smɔl pikin gɛt chenj dɛn na in fes lɛk dɛn wan ya? Lɛ wi tɔk bɔt Treacher Collins Syndrome!

Yu no, sɔntɛnde wi smɔl pikin dɛn kin kam na dis wɔl wit smɔl chenj dɛn na dɛn fes, yes, ɛn yay we dɛn bɔn dɛn. Na nɔmal tin fɔ mek wi as mama ɛn papa fil bad bad wan ɛn wɔri we wi si dis. Tide wi go tɔk bɔt dis kayn tin we nɔ kin apin so ɔltɛm, bɔt we rili impɔtant fɔ no bɔt. Dɛn kɔl am Treacher Collins Syndrome . Dis nem kin tan lɛk se i strenj smɔl we yu yɛri am, bɔt lɛ wi ɔndastand am simpul wan.

Wetin na di sik we dɛn kɔl Treacher Collins Syndrome?

Fɔ tɔk am simpul wan, Treacher Collins syndrome na wan sik wae nɔr kin bɔrku, wae de mek pɔrsin gɛt jɛnɛtiks. I kin mek yu pikin in yes, in yay, in chɛst, ɛn in jaw in saiz, shep, ɛn pozishɔn chenj. Dɛn chenj ya kin mek i nɔ izi fɔ mek yu pikin gi in bɛlɛ, fɔ blo izi wan, ɔ fɔ yɛri klia wan. Dɛn kin kɔl am bak mandibulofacial dysostosis . Dat nem de kɔnfyus smɔl, nɔto so? So lɛ wi jɔs yuz Treacher Collins syndrome.

Yu pikin in sayn dɛm fɔ dis sik kin kɔmɔt frɔm tin dɛm wae nɔr kin no bɔt, wae nɔr kin notis, to wae kin rili bad . Bɔku pikin dɛn we gɛt Treacher Collins syndrome kin gɛt ɔpreshɔn fɔ kɔrɛkt di tin dɛn we nɔ fayn na dɛn fes, lɛk we dɛn palata skata. Sɔm pikin dɛn kin nid tritmɛnt bak fɔ we dɛn nɔ de yɛri fayn.

Bɔt nɔ wɔri . If dɛn trit dɛn pikin ya di rayt we ɛn go to dɔktɔ ɔltɛm, dɛn go ebul fɔ liv ful layf ɛn gɛt wɛlbɔdi . Di tin we impɔtant pas ɔl na fɔ no dis kwik ɛn bigin fɔ trit am (early intervention) . If nɔto dat, di pikin kin gɛt prɔblɛm dɛn we go nid fɔ gɛt mɛrɛsin fɔ ɔl in layf.

Dis sik kin afɛkt lɛk wan pan ɛvri 50,000 pikin dɛn ɔlsay na di wɔl, we min se i nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm wae de sho se yu gɛt Treacher Collins Syndrome?

Pikin dɛn we gɛt Treacher Collins syndrome gɛt sɔm difrɛn tin dɛn na dɛn fes. Dɛn tin ya na:

• di aylid dεm luk lεk se dεn tilt dכn: I de mek di yay dεm luk sכmtεm sad.
• di chεk bכn dεm sכm εn flat: di chεk dεm nכ de sho ful prominεnt.
• sכm sכm lכw jaw: dכkta dεn kin kכl dis bak ``maykrognathia''.
• di yes dεm we de sכmtεm sכmtεm כ de chenj in shep: sכmtεm di say we di yes dεm de kin chenj bak.
• Smɔl tin we tan lɛk we dɛn kɔt na di aylid: Dɛn kɔl dis aylid coloboma .

Pikin kin gɛt wan ɔ mɔ pan dɛn kwaliti dɛn ya. Nɔto ɔl dɛn kwaliti ya kin de di sem we pan ɔl pikin.

Wetin mek di Treacher Collins Syndrome kin apin?

Di wan dɛn we de stɔdi bɔt dis tɔk se di men rizin fɔ dis naDi chenj we de apin na di jɛnɛtiks. Dis kכndyushכn kin apin bikoz fכ sכm chenj dεm na di sכm sכm tin dεm we dεn kכl jin dεm na wi bכdi.

• Sɔmtɛm, dat na, insay lɛk af pan di pikin dɛn , if pɔsin na di famili (mama, papa, ɔ in fambul we de nia am) gɛt dis sik, di pikin kin gɛt am bak.
• Bɔt sɔntɛnde i kin apin wan wan tɛm, ɛn i nɔ kin gɛt ɛni famili istri . Dat min se, i kin apin we yu nɔ bin de tink se i go apin.

Us kɔmplikɛshɔn kin apin bikɔs ɔf dis kɔndishɔn?

Pikin dɛn we gɛt Treacher Collins syndrome kin gɛt prɔblɛm dɛn lɛk:

• Yu nɔ de yɛri fayn: Dis kin bi bikɔs di yes kanal dɛn de smɔl ɔ nɔ de. Prɔblɛm kin de bak wit di smɔl smɔl bon dɛn na di midul yes.
• I nɔ izi fɔ blo: We di fes bon dɛn nɔ de divɛlɔp fayn, mɔ di jaw ɛn di nos, dat kin mek i nɔ izi fɔ blo. Dis kin tranga fɔ sɔm yɔŋ pikin dɛn.
• Klɛft palata: Dis kin mek i nɔ izi fɔ gi pikin in mama in bɛlɛ we yu smɔl, bikɔs milk kin go insay di nos we yu de sok. As di pikin de ol, i kin mek i nɔ izi fɔ tɔk ɛn kɔl di wɔd dɛn klia wan. Imajin aw mama kin fil bad we i nɔ kin izi fɔ mek smɔl pikin sɔk ɛn drink milk.

Aw dɔktɔ dɛn kin no dis?

Dɔktɔ dɛn kin sɔprayz dis we dɛn de du ɛgzam fɔ di nyu bɔbɔ ɔltɛm na di ɔspitul. If dɛn si di fes we yu pikin gɛt ɛn dɛn tink se di sik we dɛn kɔl Treacher Collins syndrome, dɛn go rifer yu to wan spɛshal pɔsin we sabi bɔt di jenɛtiks . Dɛn kin du ɔda tɛst fɔ no di rayt kɔndishɔn.

Wetin na di tritmɛnt fɔ Treacher Collins Syndrome?

Di tritmɛnt fɔ dis kin difrɛn frɔm wan pikin to ɔda pikin . Bikɔs nɔto ɔl pikin in sik na di sem, nɔto ɔlman go nid di sem tritmɛnt.

Di men gol fɔ tritmɛnt frɔm we i smɔl na fɔ mek di pikin gɛt wɛlbɔdi ɛn fɔ mek i izi fɔ du ɛvride, lɛk fɔ it, drink, fɔ blo, ɛn fɔ yɛri .

• I kin nid fɔ du ɔpreshɔn kwik kwik wan fɔ mek i izi fɔ blo. Sɔntɛnde, pikin dɛn kin ivin nid fɔ gɛt tracheostomy , we na wan tiub we dɛn kin put tru dɛn nɛk fɔ ɛp dɛn fɔ blo.
• Apat frɔm dat, bɔku pikin dɛn nid fɔ du wan ɔ mɔ ɔpreshɔn fɔ mek dɛn fes shep ɛn wok bak.
• We di pikin dɔn big smɔl, bɔku tɛm i kin ol lɛk ettin to twɛnti ia, dɛn kin tink bɔt fɔ du kɔsmɛtik ɔpreshɔn if dɛn want.

Wetin dɛn kin du wit Rikɔnstrɔktiv Ɔpreshɔn?

Dɛn kin mek dɛn ɔpreshɔn ya fɔ kɔrɛkt di strɔkchɔ we nɔ fayn na di pikin in fes, fɔ ridyus di sik dɛn we de sho se i gɛt sik, ɛn fɔ mek di pikin gɛt wɛlbɔdi. Dipen pan di pikin in kɔndishɔn, dɛn kin nid fɔ du dɛn ɔpreshɔn ya:

• di jaw dεm: We di jaw dεm alayne fayn fayn wan εn di tit dεm de posishכn kכrekt, i kin rεdכks di prכblεm fכ it εn brith. Dis kin nid fɔ gɛt tritmɛnt plan we kin las fɔ lɔng lɔng tɛm.
• Mɔt: Sɔm pikin dɛn go mɔs nid ɔpreshɔn fɔ fiks dɛn palata we dɔn skata . Ɔda wan dɛn kin nid fɔ pul dɛn tit if dɛn gɛt krawd tit, ɔ dɛn kin nid fɔ gɛt bres (ɔtodɔnt) fɔ mek dɛn tit stret.
• Nos: If pasmak tisu de insay di nos kaviti, we de ambɔg di brith, ɔpreshɔn kin opin di pasej ɛn mek i izi fɔ blo.
• Iya: Dipen pan di pikin in simptom dɛm, dɛn kin put in yes tyub (dis kin mek di briz go insay di midul yes ɛn i kin mek i yɛri fayn), dɛn kin yuz tin fɔ ɛp fɔ yɛri , ɔ dɛn kin du ɔpreshɔn fɔ mek di yes dɛn we de na do bak. Di tin dɛn we dɛn kin yuz fɔ ɛp fɔ yɛri kin rili ɛp pikin dɛn we dɔn rich skul ej.
• Ay: Sɔm pikin dɛn nid ɔpreshɔn fɔ mek dɛn ripɛnt wan wata we de na dɛn yaylid we de dɔŋ (eyelid coloboma) . Dis kin mek di yay protɛkt ɛn i kin mek di yay luk fayn.
• Chikbon: If di chɛst smɔl ɛn mek i nɔ izi fɔ it ɔ blo, ɔpreshɔn fɔ shep di say bak kin ɛp. Dis kin min bak fɔ yuz bon graft.

Yu tink se dɛn go ebul fɔ mek dis tin nɔ apin?

Dis kin apin bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks, so i sɔri fɔ no se no we nɔ de fɔ mek i nɔ apin . Bɔt if pɔsin na yu famili gɛt Treacher Collins Syndrome, ɔ if yu gɛt dis sik, i go fayn fɔ mek yu gɛt kɔyl fɔ yu jɛnɛtik bifo yu bɔn pikin. Dɔn, if yu de plan fɔ bɔn pikin, yu kin asɛs di risk fɔ dis fɔ da pikin de. Dis advays go ɛp yu bak fɔ rɛdi fɔ am na yu maynd.

Yu tink se dɛn kin mɛn di Treacher Collins Syndrome ɔltogɛda?

Dis sik nɔ go ebul fɔ wɛl ɔltogɛda . Na bikɔs na tin we pɔsin kin gɛt we i kam pan jɛnɛtiks. Bɔt nid nɔ de fɔ wɔri , bikɔs di prɔblɛm dɛn we kin apin bikɔs ɔf dis, lɛk we pɔsin in fes kin chenj, we i nɔ kin ebul fɔ blo fayn, ɛn we i nɔ kin yɛri fayn , dɛn kin kɔrɛkt dɛn mɔ bay we dɛn du ɔpreshɔn ɛn ɔda tritmɛnt dɛn .

Wetin na di layf we dɛn pikin ya kin liv?

Dis na di big prɔblɛm we bɔku mama ɛn papa dɛn gɛt. Di gud nyus na dat if dɛn pikin gɛt di rayt tritmɛnt di rayt tɛm, i go ebul fɔ liv nɔmal, gud layf lɛk ɔlman.. Tritmɛnt ɛn fɔ fala am ɔltɛm kin kɔntrol di sayn dɛm ɛn impruv kwaliti layf. Bɔt lɛk aw wi bin dɔn tɔk, if dɛn nɔ trit pikin dɛn, dɛn kin gɛt prɔblɛm dɛn we go mek dɛn nid fɔ gɛt mɛrɛsin fɔ dɛn ɔl dɛn layf.

Aw a fɔ kia fɔ mi pikin?

Na nɔmal tin fɔ fil bad, fred, ɛn wɔri we yu kam fɔ no se yu pikin gɛt Treacher Collins Syndrome. Yu kin wɔri bɔt us kayn tritmɛnt yu go nid tumara bambay ɛn aw yu pikin go bia wit di prɔblɛm.

Bɔt mɛmba se nɔto yu wangren de. Yu dɔktɔ, nɔs, ɛn ɔda dɔktɔ dɛn de fɔ ɛp ɛn gayd yu. Dɛn go de wach yu ɛn yu pikin ɔltɛm, ɛn dɛn go de tɛl yu bɔt di tritmɛnt plan ɛn wetin fɔ du nɛks.

Di tin we impɔtant pas ɔl fɔ mɛmba na dat, Treacher Collins Syndrome nɔ de afɛkt pikin in lanin, aktiviti, ɔl di growth, bren divɛlɔpmɛnt, ɔ intɛlijɛns. If yu ɛnkɔrej yu pikin fɔ ple, tray fɔ du nyu tin dɛn we i lɛk fɔ du, fɔ no bɔt di say we i de, ɛn fɔ spɛn tɛm wit ɔda pikin dɛn, dat go ɛp am fɔ gro fayn ɛn fɔ de wit ɔda pipul dɛn. Nɔ tek di tin dɛn we dɛn ebul fɔ du smɔl.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

I nɔmal fɔ gɛt bɔku kwɛstyɔn bɔt yu pikin in wɛlbɔdi ɛn aw i luk. We yu go to dɔktɔ, yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• "Aw dis sindrom go afɛkt mi pikin?"
• "Us siriɔs mɛdikal kɔndishɔn dis kin kɔz?"
• "Mi pikin go nid ɔpreshɔn? If na so, us kayn ɔpreshɔn ɛn ustɛm dɛn fɔ du dɛn?"
• "Dis kondishon go afekt mi pikin in normal divelopment?"
• "Udat na di ɔda spɛshal pipul dɛn we go ɛp wi?" (e.g., spɛshal pɔsin we de mɛn yu yes, nos, ɛn trot, dɔktɔ we de mɛn dɛnt, dɔktɔ we de mɛn pipul dɛn we de tɔk)

Yu tink se dɛn kin no dis sik bifo dɛn bɔn am?

Yɛs, sɔntɛnde i pɔsibul. di dכkta dεm de mכnitor di divεlכpmεnt fכ di pikin wit rutin כltra saund we i bεlε. yu kin si yu pikin in fes fכ si pan כltra saund as ali as di sεkכn trimεst , arawnd 4-6 mכnt insay yu bεlε. Sɔntɛnde, dɛn kin si siriɔs kes dɛm fɔ Treacher Collins Syndrome pan dɛn skan ya. Bɔt nɔto ɔltɛm dɛn kin no am we dɛn de skan am, mɔ we sɔm kayn sayn dɛn de we nɔ klia.

Pipul wae gɛt Treacher Collins Syndrome kin bɔn pikin?

Yɛs, i rili pɔsibul. Nɔr prɔblɛm nɔr de fɔ pɔrsin wae gɛt Treacher Collins Syndrome fɔ mared ɛn bɔn pikin dɛn nɔrmal wan. Bɔt if yu gɛt dis sik, 50% (fifti fifti) chans de fɔ mek yu pikin pas am bak tru di jin dɛm.Yɛs. Dat nɔ min se i go apin to ɔl pikin, bɔt i pɔsibul fɔ mek i apin. So, as wi bin dɔn tɔk, i impɔtant fɔ gɛt kɔyl fɔ yu jɛnɛtiks.

Dis go afɛkt mi pikin in bren?

Nɔ, no sayɛns pruf nɔ de fɔ se di sik we dɛn kɔl Treacher Collins Syndrome kin afɛkt di we aw pikin in bren de gro ɔ di we aw i de tink . Dɛn pikin ya kin lan ɛn sho dɛn talɛnt jɔs lɛk ɔda pikin dɛn.

Bɔt lɛk aw wi bin dɔn tɔk, sɔm pikin dɛn kin gɛt prɔblɛm wit dɛn yɛri. Dis we aw dɛn nɔ de yɛri fayn kin mek sɔm divɛlɔpmɛnt delay , lɛk fɔ delay fɔ tɔk, mɔ we dɛn bigin fɔ tɔk. Bɔt ivin dɛn tin ya kin bɛtɛ pasmak wit tritmɛnt dɛn lɛk tin fɔ ɛp pɔsin fɔ yɛri ɛn fɔ mɛn pɔsin we de tɔk .

Fɔ dɔn, tin dɛn fɔ mɛmba...

Insay wi yay, ɔl wi pikin dɛn valyu, dɛn pafɛkt. Wi ɔl want mek di wɔl si dɛn da we de. Treacher Collins Syndrome na chalenj fɔ pikin fɔ gɛt, bɔt i nɔ de stɔp dɛn valyu ɔ abiliti.

Pan ɔl we no mɛrɛsin nɔ de fɔ di Treacher Collins Syndrome, dɔktɔ dɛn kin ɛp wit bɔku tin dɛn. Ɔpreshɔn de (lɛk fɔ mek yu kranio fes bak) ɛn ɔda tritmɛnt dɛn de fɔ ɛp fɔ mek yu nɔ ebul fɔ blo fayn, yu nɔ de yɛri fayn, ɛn sɔm chenj dɛn na yu fes.

Di impɔtant tin na dat, nɔto yu wangren de du dis waka . Dɔktɔ dɛn, nɔs dɛn, ɛn ɔda pipul dɛn de we de kia fɔ dɛn wɛlbɔdi biznɛs we gɛt ɛkspiriɛns fɔ trit pikin dɛn lɛk dis. Dɛn go ɛp ɛn gayd yu ɛn yu pikin ɛvri step na di rod. If dɛn trit dɛn pikin ya di rayt we ɛn kia fɔ dɛn wit lɔv, dɛnsɛf kin liv aktif, gladi, ɛn gɛt minin layf.

` Treacher Collins Syndrome, fes difɔmiti, jenɛtik sik, nɔ de yɛri fayn, i nɔ kin izi fɔ blo, ɔpreshɔn we dɛn kin du fɔ mek pɔsin gɛt bak