Ðe viwò suea ƒe mo trɔna abe esiawo enea? Mina míaƒo nu tso Treacher Collins Syndrome ŋu!

Ènyaa, ɣeaɖewoɣi la, mía vi suewo vaa xexe sia me kple tɔtrɔ suesuesuewo le woƒe mo, to, kple ŋkuwo me ne wodzi wo. Enye nusi sɔ be mí dzilawo be míavɔ̃ ŋutɔ eye míatsi dzimaɖi ne míekpɔ esia. Egbea míele nu ƒom tso nɔnɔme sia tɔgbe si mebɔ o, gake wòle vevie ŋutɔ si ŋu wòle be míanya nu tsoe ŋu. Woyɔe be Treacher Collins ƒe Dɔléle . Ŋkɔ sia aɖi nusi wɔ nuku vie ne èsee, gake mina míase egɔme bɔbɔe.

Nukae nye Treacher Collins ƒe Dɔléle?

Kpuie ko la, Treacher Collins ƒe dɔlélea nye dɔléle si mebɔ kura o, si tso domenyiŋusẽfianu gbɔ. Ena viwòa ƒe to, ŋku, ŋgonu, kple aɖu ƒe lolome, eƒe nɔnɔme, kple eƒe nɔƒe trɔna. Tɔtrɔ siawo ate ŋu ana wòasesẽ na viwòa be wòana no, wòagbɔ ya bɔbɔe, alo ase nu nyuie. Wogayɔnae be mandibulofacial dysostosis . Ŋkɔ ma tɔtɔa ame vie, alo? Eyata mina míazã Treacher Collins ƒe dɔlélea ko.

Viwòa ƒe nɔnɔme sia ƒe dzesiwo ate ŋu atso esiwo menya kpɔna dzea sii bɔbɔe o, siwo womate ŋu ade dzesii kura o dzi va ɖo esiwo nu sẽ ŋutɔ dzi . Wowɔa dɔ na ɖevi geɖe siwo ŋu Treacher Collins ƒe dɔlélea le be woatsɔ aɖɔ mo ƒe dɔmawɔmawɔ nyuie, abe aɖu si me ʋuʋu ene ɖo. Ðevi aɖewo hã ate ŋu ahiã atikewɔwɔ na woƒe tosese.

Gake mègatsi dzi o . Ne wowɔ atike na ɖevi siawo nyuie eye wokpɔ wo gbɔ edziedzi la, woate ŋu anɔ agbe blibo si me lãmesẽ le . Nu vevitɔe nye be nàde dzesi esia kaba eye nàdze atikewɔwɔ gɔme (nudede eme kaba) . Ne menye nenema o la, kuxi aɖewo ate ŋu adze ɖevia dzi si abia be woakpɔ egbɔ le eƒe agbemeŋkekewo katã me.

Nɔnɔme sia dzea ɖevi siwo ade ɖeka le 50,000 ɖesiaɖe me le xexeame katã, si fia be ƒã ŋutɔ.

Nukae nye Treacher Collins Syndrome ƒe dzesiwo?

Ðevi siwo ŋu Treacher Collins ƒe dɔlélea le la ƒe mo ƒe nɔnɔme to vovo. Esiawo dometɔ aɖewoe nye:

• Ŋkuawo dzena abe ɖe wobɔbɔ ɖe anyi ene: Enaa ŋkuawo dzena abe ɖe wolé blanui vie ene.
• Aŋgbawo le sue eye wole gbadzaa: Aŋgbawo medzena bliboe o.
• Aɖu si le ete wu: Ðɔktawo hã yɔa esia be ``micrognathia''.
• Towo ƒe sue alo woƒe nɔnɔme ƒe tɔtrɔ: Ɣeaɖewoɣi la, afisi toawo le hã ate ŋu atrɔ.
• Kpe sue aɖe si le abe lãɖeɖe ene le ŋkume: Woyɔa esia be ŋkume ƒe coloboma .

Nɔnɔme siawo dometɔ ɖeka alo esi wu nenema ate ŋu anɔ ɖevi aɖe si. Menye nɔnɔme siawo katãe nɔa ɖevi ɖesiaɖe ŋu le mɔ ɖeka nu o.

Nukatae Treacher Collins ƒe Dɔlélea dzɔna?

Le numekulawo ƒe nya nu la, nusi koŋ gbɔ esia tsoe nyeDomenyiŋusẽfianu ƒe tɔtrɔ. Nɔnɔme sia dzɔna le tɔtrɔ aɖewo siwo vaa nu suesuesue siwo woyɔna be domenyiŋusẽfianu siwo le míaƒe ŋutilã me gbɔ.

• Ɣeaɖewoɣi, si fia be le ɖevi siwo ade afã gome la , ne dɔléle sia le ƒomea me tɔ aɖe (dada, fofo, alo ƒometɔ kplikplikpli) ŋu la, ɖevia hã ate ŋu axɔe.
• Gake ɣeaɖewoɣi la, ate ŋu adzɔ ɣeaɖewoɣi, ƒome ŋutinya aɖeke manɔmee . Eyae nye be ate ŋu adzɔ le vome.

Kuxi kawoe ate ŋu ado mo ɖa le nɔnɔme sia ta?

Ðevi siwo ŋu Treacher Collins ƒe dɔlélea le ate ŋu axɔ kuxiwo abe:

• Tosese ƒe dɔmawɔmawɔ nyuie: Esia ate ŋu atso tomeka siwo le kpuie alo esiwo bu gbɔ. Kuxiwo ate ŋu anɔ ƒu sue siwo le to titina hã ŋu.
• Yagbɔgbɔ sesẽ: Mo ƒe ƒuwo, vevietɔ aɖu kple ŋɔti, ƒe tsitsi nyuie ate ŋu ana gbɔgbɔ nasesẽ. Esia ate ŋu asẽ ɖe ɖevi sue aɖewo ŋu.
• Aɖu si me mã: Esia ate ŋu ana wòasesẽ be woana no le vidzĩme, elabena notsi ate ŋu age ɖe ŋɔti me ne wole no nom. Ne vidzĩa le tsitsim la, ate ŋu ana wòasesẽ be wòaƒo nu ahayɔ nyawo nyuie. Bu ale si vidada sea blanui ne esesẽna na vidzĩ sue aɖe be wòano notsi ahanoe ɖa.

Aleke ɖɔktawo wɔna dea dzesi esia?

Ðɔktawo ate ŋu asusu esia le vidzĩ yeyewo dodokpɔ edziedzi le kɔdzi me. Ne wokpɔ viwòa ƒe mo ƒe dzedzeme eye wosusu be Treacher Collins ƒe dɔlélea le wo ŋu la, woaɖo wò ɖe domenyiŋusẽfianu ŋuti nunyala bibi aɖe . Woate ŋu awɔ dodokpɔ bubuwo atsɔ aɖo kpe nɔnɔmea tututu dzi.

Nukawoe nye Treacher Collins Syndrome ƒe atikewo?

Atikewɔwɔ na esia toa vovo tso ɖevi ɖesiaɖe gbɔ . Esi menye ɖevi ɖesiaɖe ƒe nɔnɔme ɖekae o ta la, menye amesiamee ahiã atikewɔwɔ ɖeka o.

Taɖodzinu vevitɔ si le atikewɔwɔ ŋu tso eƒe ɖevime ke enye be wòana ɖevia ƒe lãmesẽ nanyo ɖe edzi eye wòana gbesiagbedɔwo, abe nuɖuɖu, nunono, gbɔgbɔ, kple tosese ene nanɔ bɔbɔe .

• Ðewohĩ ahiã be woawɔ dɔ na ame kaba be gbɔgbɔ nanɔ bɔbɔe. Le nɔnɔme sesẽ aɖewo me la, ahiã gɔ̃ hã be woawɔ tracheostomy , si nye mɔ̃ aɖe si wotsɔ dea kɔ me be wòakpe ɖe wo ŋu woagbɔ ya.
• Tsɔ kpe ɖe eŋu la, ehiã be woawɔ dɔ na ɖevi geɖe zi ɖeka alo esi wu nenema be woagbugbɔ mo ƒe nɔnɔme kple dɔwɔwɔ awɔ dɔe.
• Ne ɖevia nya tsi vie, zi geɖe la, exɔa abe ƒe wuiatɔ̃ va ɖo blaeve ene ko la, woate ŋu abu atsyɔ̃ɖoɖo ƒe amekoko ŋu ne wodi.

Nukae wowɔna kple Amekoko Gbugbɔgaɖɔɖo?

Wotrɔ asi le amekoko siawo ŋu be woatsɔ aɖɔ ɖevia ƒe mo ƒe wɔwɔme ƒe dɔmawɔmawɔ nyuie ɖo, aɖe dzesiawo dzi akpɔtɔ, eye woana ɖevia ƒe lãmesẽ nanyo ɖe edzi. Le ɖevia ƒe nɔnɔme nu la, ahiã be woawɔ dɔ siwo gbɔna:

• Aɖuwo: Ne aɖuawo le ɖoɖo nu nyuie eye aɖuawo le teƒe nyuitɔ la, nuɖuɖu kple gbɔgbɔ ƒe kuxiwo ate ŋu aɖe akpɔtɔ. Esia ate ŋu abia be woawɔ atikewɔwɔ ƒe ɖoɖo si ate ŋu anɔ anyi ƒe geɖe.
• Nu: Ahiã be woawɔ dɔ na ɖevi aɖewo godoo be woaɖɔ aɖu si me do ɖo . Ðewohĩ ahiã be woaɖe aɖu na ame bubuwo ne aɖuwo yɔ wo me fũ, alo ahiã be woatsɔ aɖuɖɔɖɔɖɔ (aɖuɖɔɖɔɖɔ) na wo be woatsɔ aɖɔ woƒe aɖuwo ɖo.
• No: Ne lãkusi si sɔ gbɔ ɖe ŋɔti me, si le mɔ xem na gbɔgbɔ la, amekoko ate ŋu aʋu mɔa eye wòana gbɔgbɔ nanɔ bɔbɔe.
• Towo: Le ɖevia ƒe dzesiwo nu la, woate ŋu ade tomemɔ̃wo eme (esia wɔnɛ be ya gena ɖe to titina eye wònaa tosese nyona ɖe edzi), woate ŋu azã tomemɔ̃wo , alo woate ŋu awɔ dɔ nɛ atsɔ agbugbɔ to siwo le gota la atu. Tomemɔ̃wo ate ŋu akpe ɖe ame ŋu ŋutɔ, vevietɔ na ɖevi siwo le suku dem.
• Ŋkuwo: Ele be woawɔ dɔ na ɖevi aɖewo be woatsɔ aɖɔ aɖatsi si le ŋkume ƒe akpa si le ete (eyelid coloboma) ɖo . Esia naa ŋkua kpɔa ame ta eye wònana eƒe dzedzeme nyona ɖe edzi.
• Akɔtaƒuwo: Ne ŋgonuawo le sue eye wòna nuɖuɖu alo gbɔgbɔ sesẽ la, amekoko be woatrɔ asi le teƒea ŋu ate ŋu akpe ɖe ŋuwò. Esia ate ŋu abia be woazã ƒu siwo wodo ɖe lãme na ame hã.

Ðe woate ŋu axe mɔ ɖe nɔnɔme sia nua?

Domenyiŋusẽfianu ƒe tɔtrɔ gbɔe esia tsona, eyata nublanuitɔe la, mɔ aɖeke meli si dzi woato axe mɔ ɖe enu o . Gake ne Treacher Collins Syndrome le wò ƒomea me, alo ne dɔléle sia le ŋuwò la, anyo be nàxɔ domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo hafi nàdzi vi. Emegbe ne èle ɖoɖo wɔm be yeadzi vi la, àte ŋu akpɔ afɔku si le esia me na ɖevi ma. Aɖaŋuɖoɖo sia akpe ɖe ŋuwò le susu me hã be nàdzra ɖo ɖe eŋu.

Ðe woate ŋu ada Treacher Collins Syndrome keŋkeŋa?

Womate ŋu ada nɔnɔme sia keŋkeŋ o . Elabena enye domenyiŋusẽfianu ƒe nɔnɔme. Gake mehiã be nàtsi dzi o , elabena woate ŋu aɖɔ kuxi siwo doa mo ɖa le esia ta, abe mo ƒe tɔtrɔ, gbɔgbɔtsixe tsia ame ƒo, kple tosese ƒe kuxi ene , ƒe akpa gãtɔ to amekoko kple atikewɔwɔ bubuwo me .

Nukae ɖevi siawo ƒe agbenɔƒe?

Esiae nye kuxi gãtɔ kekeake si le dzila geɖe ŋu. Nya nyuiae nye be ne wowɔ atike nyuitɔ na wo vi le ɣeyiɣi nyuitɔ dzi la, ate ŋu anɔ agbe si sɔ, nyui abe ame bubu ɖesiaɖe ene.. Atikewɔwɔ kple edziyiyi edziedzi ate ŋu aɖu dzesiawo dzi eye wòana agbenɔnɔ nanyo ɖe edzi. Gake abe alesi míegblɔe va yi ene la, ne womewɔ atike na ɖeviwo o la, woate ŋu axɔ kuxi siwo ahiã be woakpɔ wo gbɔ le woƒe agbemeŋkekewo katã me.

Aleke wòle be malé be na vinye?

Enye nusi sɔ be nàse le ɖokuiwò me be yegbɔdzɔ, vɔvɔ̃ ɖo ye, eye yetsi dzi ne èva nya be Treacher Collins Syndrome le viwò ŋu. Ðewohĩ àtsi dzi ɖe atikewɔwɔ si ƒomevi ahiã le etsɔme kple alesi viwòa awɔ anɔ te ɖe enui ŋu.

Gake ɖo ŋku edzi be menye wò ɖeka koe o. Wò ɖɔkta, dɔnɔdzikpɔlawo, kple atikewɔla bubuwo le afima be yewoakpe ɖe ŋuwò ahafia mɔ wò. Woalé ŋku ɖe mia kple viwòa ŋu ɣesiaɣi, eye woana nànya nu tso atikewɔwɔ ƒe ɖoɖoa kple nusi nàwɔ emegbe ŋu.

Nu vevitɔ si dzi wòle be míaɖo ŋkui enye be Treacher Collins Syndrome mekpɔa ŋusẽ ɖe ɖevi ƒe nusɔsrɔ̃, dɔwɔna, tsitsi bliboa, ahɔhɔ̃ ƒe tsitsi, alo nunya dzi o. Ne ède dzi ƒo na viwò be wòafe, ate modzakaɖeɖe yeyewo kpɔ, adzro nuto si me wole me, eye wòade ha kple ɖevi bubuwo la, akpe ɖe eŋu wòatsi nyuie eye wòava nɔ hadomenuwɔnawo me. Mègabu woƒe ŋutetewo nu tsɛe o.

Nya kawoe wòle be mabia ɖɔktaa?

Enye nusi sɔ be nyabiase geɖe nanɔ asiwò ku ɖe viwòa ƒe lãmesẽ kple eƒe dzedzeme ŋu. Ne èyi ɖɔkta gbɔ la, àte ŋu abia nya siawo tɔgbe:

• "Aleke tututu dɔléle sia akpɔ ŋusẽ ɖe vinye dzii?"
• "Atikewɔwɔ ƒe nɔnɔme sesẽ kawoe esia ate ŋu ahe vɛ?"
• "Ðe ahiã be woawɔ dɔ na vinyea? Ne ele nenema la, amekoko ka ƒomevie eye ɣekaɣie wòle be woawɔ wo?"
• "Ðe nɔnɔme sia akpɔ ŋusẽ ɖe vinye ƒe tsitsi si sɔ dzia?"
• "Amekawoe nye eŋutinunyala bibi bubu siwo ate ŋu akpe ɖe mía ŋu?" (e.g., to, ŋɔti, kple ŋɔti ŋuti nunyala, aɖudɔdala, nuƒoƒoŋutinunyala)

Ðe woate ŋu ade dzesi nɔnɔme sia hafi woadziia?

Ẽ, ɣeaɖewoɣi la, ate ŋu adzɔ. Ðɔktawo tsɔa ultrasound siwo wozãna edziedzi léa ŋku ɖe fugboea ƒe tsitsi ŋu le fufɔɣi. Woate ŋu akpɔ viwòa ƒe mo ƒe dzedzeme le ultrasound me le eƒe fufɔfɔ ƒe ɣleti etɔ̃lia ƒe gɔmedzedze ke , le wò fufɔfɔ ƒe ɣleti 4-6 lɔƒo. Woate ŋu ade dzesi Treacher Collins Syndrome ƒe dɔléle sesẽwo ɣeaɖewoɣi le fotoɖemɔ̃ siawo me. Gake ɖewohĩ menye ɣesiaɣie woakpɔe le fotoɖemɔ̃a dzi o, vevietɔ ne dzesi siwo menya kpɔna dzea sii bɔbɔe o.

Ðe amesiwo ŋu Treacher Collins Syndrome le ate ŋu adzi vi?

Ẽ, anya wɔ godoo. Kuxi aɖeke meli na amesi ŋu Treacher Collins Syndrome le be wòaɖe srɔ̃ eye wòadzi vi le mɔ si sɔ nu o. Ke hã, ne nɔnɔme sia le ŋuwò la, mɔnukpɔkpɔ 50% (blaatɔ̃ vɔ atɔ̃) li be viwò hã natsɔe ato domenyiŋusẽfianuwo dzi.Ɛ̃. Ema mefia be adzɔ ɖe ɖevi ɖesiaɖe dzi o, gake ate ŋu adzɔ be ate ŋu adzɔ. Eyata abe alesi míegblɔe va yi ene la, ele vevie be woaxɔ domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo.

Ðe esia akpɔ ŋusẽ ɖe vinyea ƒe ahɔhɔ̃ dzia?

Ao, dzɔdzɔmeŋutinunya me kpeɖodzi aɖeke meli be Treacher Collins Syndrome gblẽa nu le ɖevi ƒe ahɔhɔ̃ ƒe tsitsi alo susu ƒe ŋutete ŋu o . Ðevi siawo ate ŋu asrɔ̃ nu ahaɖe ŋutetewo afia abe ɖevi bubuwo ene.

Gake abe alesi míegblɔe va yi ene la, ate ŋu anye be ɖevi aɖewo ƒe to me gblẽ. Tosese ƒe kuxi sia ate ŋu ahe tsitsi ƒe megbetsitsi aɖewo vɛ , abe nuƒoƒo ƒe megbetsitsi ene, vevietɔ ne wodze nuƒoƒo gɔme. Gake woate ŋu ana esiawo gɔ̃ hã nanyo ɖe edzi ŋutɔ ne wozã atikewo abe tomemɔ̃ kple nuƒoƒo ƒe atikewɔwɔ ene .

Mlɔeba la, nusiwo dzi wòle be woaɖo ŋkui...

Le mía ŋkume la, mía viwo katã xɔ asi, wode blibo. Mí katã míedi be xexeame nakpɔ wo nenema. Treacher Collins Syndrome nye kuxi si ɖevi si wòle be wòadze ŋgɔe, gake meɖea woƒe asixɔxɔ alo ŋutetewo dzi kpɔtɔna o.

Togbɔ be atike aɖeke meli na Treacher Collins Syndrome o hã la, ɖɔktawo ate ŋu akpe ɖe ame ŋu le nu geɖe me. Amekoko (abe tagbɔ kple mo gbugbɔgatu ene) kple atikewɔwɔ bubuwo li siwo akpe ɖe ame ŋu le gbɔgbɔtsixetsixe, tosese, kple mo ƒe tɔtrɔ aɖewo me.

Nu vevitɔe nye be menye wò ɖeka koe le mɔzɔzɔ sia me o . Ðɔkta, dɔnɔdzikpɔla, kple lãmesẽdɔwɔla bubu siwo nyoa dɔme, siwo sea veve ɖe ame nu, siwo si nuteƒekpɔkpɔ le le nuwɔwɔ ɖe ɖeviwo ŋu abe amesiawo ene me la li. Woakpe ɖe mia kple viwòa ŋu ahafia mɔ wò le mɔa ƒe afɔɖeɖe ɖesiaɖe me. Ne wowɔ nu ɖe ​​ɖevi siawo ŋu nyuie helé be na wo lɔlɔ̃tɔe la, woate ŋu anɔ agbe dovevienu, dzidzɔ, kple agbe si ŋu viɖe le.

` Treacher Collins Syndrome, mo ƒe dɔmawɔmawɔ nyuie, domenyiŋusẽfianu ƒe dɔlélewo, tosese ƒe kuxi, gbɔgbɔtsixetsixe, amekoko si wowɔna tsɔ gbugbɔa ame ɖoa te