Ese ubona impinduka mu maso cyangwa mu matwi y'umwana wawe? Ese byaba ari indwara ya Goldenhar?

Iyo turebye umwana uvutse, twumva twishimye kandi dukunzwe cyane, si byo se? Ariko tekereza kuri ibi, rimwe na rimwe, nubwo ari gake cyane, hari abana baza muri iyi si bafite itandukaniro rito rigaragara kuva bavutse. Ni ko bimeze, cyane cyane mu maso, mu matwi, mu maso, cyangwa mu mugongo, indwara tugiye kuvugaho uyu munsi yitwa Goldenhar Syndrome. Ntugatinye numva iri zina, tuzavuga kuri byose mu buryo bworoshye ushobora gusobanukirwa.

Indwara ya Goldenhar ni iki?

Muri make, Goldenhar Syndrome ni indwara idakunze kugaragara, ivukanwa . "Congenital" bivuze ko iyo ndwara iba ihari igihe umuntu avuka. Ishyirwa mu cyiciro cy'indwara yo mu mutwe. Ibi bivuze ko itera ibibazo mu miterere cyangwa imikurire y'isura cyangwa umutwe by'umwana wawe. By'umwihariko, Goldenhar Syndrome ishobora kugira ingaruka ku ruti rw'umugongo rw'umwana wawe, amatwi ye, n'amaso ye.

Akenshi, abantu barwaye indwara ya Goldenhar Syndrome baba bafite amagufwa n'imitsi bidakura neza ku ruhande rumwe rw'isura (byitwa kandi hemifacial microsomia). Hari igihe impande zombi zishobora kwibasirwa. Hari n'abana bafite iminwa ipfutse cyangwa ipfutse.

Yiswe Goldenhar mu rwego rwo guha icyubahiro umushakashatsi wavumbuye iyi ndwara bwa mbere mu 1952, Maurice Goldenhar. Irindi zina ry’ubuvuzi ni "oculo-auriculo-vertebral dysplasia." Izina risa n'aho ari rirerire, si byo se? Reka tubisobanure neza, si byo se?

• Oculo bisobanura isano iri hagati y'amaso.
• Auriculo bisobanura isano n'ugutwi.
• Uruti rw'umugongo rwerekeza ku mugongo.
• Dysplasia ni ugukura kudasanzwe kw'igice cy'umubiri.

Noneho usobanukiwe icyo iri zina risobanura, sibyo?

Iki kibazo gikunze kugaragara gute?

Indwara ya Goldenhar mu by’ukuri ni indwara idakunze kugaragara cyane . Impuguke zivuga ko ifata hafi umwana umwe mu bana bavutse hagati ya 3,500 na 25,000. Bivugwa kandi ko ikunze kugaragara ku bahungu kurusha abakobwa.

Ni izihe mpamvu zitera indwara ya Goldenhar Syndrome?

Ikibazo abantu benshi bafite ni "Kuki ibi bibaho?" Mu by'ukuri, abahanga ntibarabimenya .Impamvu nyayo ya Goldenhar Syndrome ntabwo izwi. Bikekwa ko iterwa n'impinduka muri chromosome, ariko impamvu ntihora isobanutse neza. Mu kigero gito cyane, hafi 1% - 2% by'abarwaye, iyi ndwara ishobora kuragwa n'umubyeyi umwe cyangwa bombi.

Ubushakashatsi bumwe bwagaragaje ko ibyago byo kurwara indwara ya Goldenhar Syndrome bishobora kwiyongera gato iyo umubyeyi afite indwara zimwe na zimwe cyangwa akoresha imiti imwe n'imwe mu gihe atwite. Urugero:

• Diyabete yo mu gihe cyo gutwita.
• Imiti imwe n'imwe ikoreshwa ku ndwara z'ibiheri, cyane cyane ikubiyemo aside retinoic, nka isotretinoin (Accutane®).

Kubwibyo, niba utwite, ni ngombwa cyane gukurikiza amabwiriza ya muganga wawe neza.

Ni ibihe bimenyetso by'ibi?

Ibimenyetso bya Goldenhar Syndrome bishobora gutandukana bitewe n'umuntu ku wundi. Ariko, kimwe mu bimenyetso bikunze kugaragara ni uko uruhande rumwe rw'isura rudakura neza . Ibi kandi byitwa `hemifacial microsomia`, nk'uko twabivuze mbere. Ibi bishobora gutuma umusaya, amatama, n'amaso ku ruhande rumwe rw'isura biba bito kandi bitameze neza ugereranije n'urundi ruhande. Urugero, itama rimwe rishobora kuba rito kurusha irindi, cyangwa agasaya gashobora kuba gato ku ruhande rumwe.

Ibindi bintu bigaragara ni ibi bikurikira:

• Ubusembwa bw'amatwi: Hari abantu bashobora kuba bafite ugutwi kumwe kudasanzwe (kwitwa `microtia`). Abandi bashobora kuba bafite ugutwi kumwe kudafite burundu (kwitwa `anotia`). Ibi bishobora gutera ubusembwa bwo kutumva.
• Igira ingaruka ku mpande zombi z'isura: Hafi kimwe cya gatatu cy'abana barwaye indwara ya Goldenhar Syndrome bagira iyi ndwara yo kugabanuka ku mpande zombi z'isura.
• Ibibazo ku zindi ngingo: Ibibazo bishobora no kubaho ku mpyiko, umutima, ibihaha, cyangwa amagufwa y'umugongo (vertebrae).
• Ubumuga bwo mu mutwe: Abantu bagera kuri 15% bashobora kuba bafite ubumuga bwo mu mutwe. Ibi bivuze ingorane zo kwiga, ubushobozi buke bwo gusobanukirwa, n'ibindi.

Uretse ibi, hari n'ibindi bimenyetso bishobora kugaragara:

• Kugira umunwa upfutse cyangwa upfutse.
• Ubusembwa bw'umutima wavukanye.
• Hari igihe utubyimba duto (dermoid cysts) dushobora kuvuka ku jisho.
• Kubura amatwi.
• Guteranya amazi mu gahanga (Hydrocephalus).
• Kubura umwuka wo gusinzira neza.
• Gutakaza imboni y'amaso cyangwa indi ngingo mu jisho (coloboma) bigatuma umuntu atabona neza.
• Indwara ya Scoliose.
• Ingorane zo kuvuga.
• Amaso afite impumuro (`Strabismus`).

Wibuke ko atari buri wese uzahura n'ibi bimenyetso byose. Hari abantu bashobora kuba bafite bike muri byo, kandi ubukana bwabyo bushobora gutandukana.

Wamenya ute ko ufite indwara ya Goldenhar?

Akenshi, abaganga bashobora gusuzuma indwara ya Goldenhar Syndrome nyuma yo kuvuka k'umwana hashingiwe ku bimenyetso byo hanze, nko guhinduka mu maso no mu matwi.

Ariko, kugira ngo yemeze neza kandi arebe niba hari ibindi bibazo by'imbere mu mubiri, muganga ashobora gukora ibindi bipimo bike. Bimwe muri ibyo harimo:

• Gupima CT: Ibi bishobora kumenya impinduka mu miterere y'amatwi zishobora gutera ububabare bwo kutumva.
• Echocardiogram (ikizamini cy’umutima) cyangwa electrocardiogram (EKG): Ibi bizamini bishobora kugenzura uko umutima ukora. Nkuko twabivuze mbere, indwara z’umutima rimwe na rimwe zishobora kubaho.
• Ibizamini by'amaso: Ibi bizamini bikorwa kugira ngo harebwe niba hari ibitagenda neza mu jisho.
• Ultrasound na X-ray: Ibi bishobora gusuzuma impinduka mu gahanga, mu mugongo, mu bihaha, cyangwa mu mpyiko.
• Gupima imiterere y'uturemangingo: Ibi bizamini bifasha mu gukuraho izindi ndwara zishobora gutera ibimenyetso bisa.
• Inyigo ku bijyanye no gusinzira: Ibi bikorwa kugira ngo harebwe niba hari ikibazo cyo kubura umwuka wo gusinzira.

Ese ibi bishobora kumenyekana mbere yuko umwana avuka?

Ibi bibaho gake cyane. Ariko, rimwe na rimwe, mu gihe cyo gupima umwana ukiri mu nda (pregnant ultrasound scans), abaganga bashobora kubona impinduka mu rwasaya rw'umwana uri mu nda, mu matwi, cyangwa mu kanwa. Ibi nibibaho, bashobora kubyitondera cyane.

Ni ubuhe buryo bwo kuvura ibi?

Uburyo bwo kuvura indwara ya Goldenhar Syndrome butandukana bitewe n'ibimenyetso . Abantu bose ntibavurwa kimwe. Hari abana bashobora kudakenera ubuvuzi bwihariye niba ibimenyetso byabo ari bike cyane. Ariko, ubuvuzi butegurwa hifashishijwe abahanga batandukanye, uko bikenewe.

Dore uburyo bumwe na bumwe bwo kuvura:

• Ubufasha mu kugaburira abana: Hari abana bashobora kugira ikibazo cyo konka. Muri ibyo bihe, amacupa yihariye cyangwa amafunguro yo mu nda ashobora gukenerwa.
• Kunoza icyerekezo cy'amaso: Ushobora gukoresha indorerwamo cyangwa kubagwa kugira ngo wongere icyerekezo cyawe.
• Ibikoresho byo kumva: Uburyo bwo kumva bushobora kunozwa hakoreshejwe ibikoresho byo kumva cyangwa ibikoresho byo kumva bifite aho bihurira n'amagufwa.
• Ubuvuzi bw'imivugire:Ibi ni ingenzi cyane mu guteza imbere ubumenyi mu rurimi no mu itumanaho.
• Kubagwa: Kubagwa bishobora gukorwa kugira ngo hakosorwe indwara z'umutima, iminwa cyangwa akanwa gacitse, guhumeka nabi mu gihe cyo gusinzira, amatwi mato (microtia), cyangwa ubumuga bw'umugongo.

Ibi byose bikorwa kugira ngo ubuzima bw'umwana burusheho kuba bwiza uko bishoboka kose. Kubwibyo, ni ngombwa cyane gukurikiza inama zatanzwe na muganga.

Ese impinduka zo mu maso zishobora gukosorwa?

Yego, iki ni ikibazo ku babyeyi benshi. Kubaga ubwiza bishobora gukorwa kugira ngo imiterere yo mu maso ibe ingana. Abana benshi barwaye indwara ya Goldenhar Syndrome babazwe kugira ngo bahindure isura y'urwasaya rwabo, amagufwa y'amatako, amatwi, cyangwa agahanga. Ibi akenshi bikorwa iyo umwana akuze gato, ku myaka ikwiye.

Ese indwara ya Goldenhar Syndrome ishobora kwirindwa?

Nkuko twabiganiriyeho mbere, nta buryo bwizewe bwo kwirinda iki kibazo kuko impamvu nyayo itaramenyekana . Ariko, ni ngombwa gukurikiza inama zose za muganga wawe mu gihe utwite. By'umwihariko, ntugakoreshe imiti irimo aside retinoic (nk'imiti imwe n'imwe ivura ibiheri) udafite inama za muganga. Ni ngombwa kandi kurya indyo yuzuye.

Niba hari umuntu wo mu muryango wawe warwaye indwara ya Goldenhar Syndrome, ni byiza kugisha inama ku bijyanye n’imiterere y’umubiri. Hanyuma, niba uteganya kubyara umwana, ushobora gusobanukirwa ibyago by’uko uwo mwana ashobora kugira iyi ndwara.

Ubuzima buzaba bumeze bute muri iki kibazo?

Ibi bishobora kumvikana nk'ibiteye ubwoba gato kuri wewe. Ariko, nubwo ahazaza h'abantu babana na Goldenhar Syndrome hatandukanye, abantu benshi bagira umusaruro mwiza . Iyo bavuwe neza, abana bafite iyi ndwara bashobora kubaho ubuzima busanzwe. Bashobora kwiga, gukina no kugira uruhare mu mibereho ya sosiyete.

Ni ibihe bintu ushaka kubaza muganga?

Iyo umenye ko umwana wawe afite iyi ndwara, ushobora kuba ufite ibibazo byinshi. Muri icyo gihe, ntutinye kubaza muganga wawe ibi bintu:

• "Muganga/Madamu, ni ibihe bimenyetso by'ingenzi bya Goldenhar Syndrome?"
• "Ni ibihe bipimo ngomba gukora kugira ngo nemeze ko umwana wanjye afite ibi?"
• "Ni ubuhe buryo bwo kuvura ibi? Ni ubuhe buryo bwiza ku mwana wanjye?"
• "Ni hehe hantu heza ho kumenya byinshi kuri iki kibazo?"
• "Ese hari imiryango cyangwa amatsinda y'ababyeyi afasha abana n'imiryango muri iki kibazo?"

Kubaza ibi bibazo bizagufasha gusobanukirwa neza ikibazo no guha umwana wawe ibyiza.

Ese indwara ya Goldenhar ni ubumuga?

Yego, rimwe na rimwe ibiUbumuga bushobora gufatwa nk'ubumuga. Urugero, niba hari ubumuga bwo kutumva cyangwa kutabona, bushobora kuba ubumuga. Mu buryo nk'ubwo, niba hari ubumuga bwo mu mutwe, uwo muntu ashobora gukenera ubufasha bwinshi kugira ngo akore akazi ka buri munsi kandi yige. Kubwibyo, ni inshingano zacu nk'umuryango kumuha ibikoresho n'inkunga bikenewe.

Ni izihe ndwara zindi zifite ibimenyetso bisa?

Hariho izindi ndwara nyinshi zifite ibimenyetso bisa na Goldenhar Syndrome. Kubwibyo, ni ngombwa cyane kubona isuzuma ryizewe. Zimwe muri izi ndwara ni izi:

• Indwara ya Branchio-oto-renal syndrome `(Branchioootorenal (BOR) syndrome)`
• Ishyirahamwe ry'abashinzwe gutanga serivisi
• Indwara ya Townes-Brocks
• Indwara ya Treacher Collins
• Ishyirahamwe rya VACTERL

Nubwo ibi bishobora kumvikana nk'ibigoye, abaganga bazirikana ibi byose iyo basuzuma indwara.

Icyo tugomba kwibuka mu byo twaganiriyeho!

Indwara ya Goldenhar ni indwara idakunze kugaragara iyo umwana avutse. Igira ingaruka cyane cyane ku miterere y'isura y'umwana, umutwe we, ndetse rimwe na rimwe n'ingingo ze zo mu nda. Abaganga bashobora gukosora ubumuga bumwe na bumwe bwo mu maso cyangwa mu ruti rw'umugongo mu gihe cy'ubuto bwabo binyuze mu kubagwa.

Igikuru ni uko bamwe mu bana bashobora kudakenera ubuvuzi bwihariye niba ibimenyetso byabo ari bike. Kandi, akenshi, abantu barwaye indwara ya Goldenhar Syndrome babaho ubuzima bwiza kandi bushimishije bafite ubuvuzi n'ubufasha bikenewe.

Niba ubona ko umwana wawe afite kimwe muri ibi bimenyetso, ntugatinye, ahubwo hita ubonana na muganga kugira ngo akugire inama. Gusuzuma umwana hakiri kare no kumuvura neza bishobora guha umwana wawe ahazaza heza.

Goldenhar syndrome, indwara yo kuvukana, ubumuga bwo kuvukana, ubumuga bwo mu maso, ubumuga bwo mu maso, ubumuga bwo mu mutwe, ubumuga bwo mu mutwe, ubuzima bw'umwana