Weaver Syndrome ni iki? Menya neza umwana wawe!

Ese wigeze ubona ko hari abana bakura vuba cyane kurusha abandi bana bo mu kigero cyabo, cyangwa ko hari itandukaniro mu miterere yabo? Hari igihe nk'ababyeyi, duhangayika gato iyo tubonye ibintu nk'ibi, si byo se? Hari igihe nk'ibi, bishobora gutera ubwoba, ariko hari indwara idakunze kugaragara, yitwa Weaver Syndrome. Uyu munsi, tuzaganira kuri ibi mu buryo bworoshye ushobora gusobanukirwa.

Weaver Syndrome ni iki mu by'ukuri?

Mu magambo make, Weaver Syndrome, rimwe na rimwe yitwa Weaver-Smith syndrome, ni indwara iterwa n'uturemangingo . Ikintu nyamukuru muri ibi ni uko amagufwa y'umubiri akura vuba kurusha uko akenewe. Ibi bishobora gutuma umwana aba muremure cyane kurusha imyaka ye. Nanone, iyi ndwara ishobora gutera impinduka mu miterere y'isura y'umwana n'ingano y'umutwe we. Hari igihe ishobora no kugira ingaruka ku mitsi n'ibindi bice by'umubiri.

Wibuke ko abantu bose bagerwaho n’ingaruka zimwe. Ariko, ikimenyetso nyamukuru abantu benshi bahura nacyo ni uburebure budasanzwe. Niba wowe cyangwa umwana wawe mufite Weaver Syndrome, mushobora kugira imitsi mike, kugorwa no kugenda no gufata ibintu, ndetse no kugira amaboko cyangwa amaguru apfukamye cyangwa afite ubumuga. Hari abana bashobora kandi kugira ubumuga bwo mu mutwe . Ibi bishobora kuva ku bworoheje kugeza ku bukomeye.

Iyi ndwara ikunze kugaragara gute?

Mu by’ukuri iyi ni indwara idakunze kugaragara. Abaganga basanze abantu bake gusa ku isi, bagera kuri 50, bityo ushobora kwiyumvisha ukuntu idakunze kugaragara.

Ni gute Weaver Syndrome igira ingaruka ku buzima?

Iyi ndwara ishobora kongera gato ibyago by'umwana byo kurwara ubwoko bwa kanseri yitwa Neuroblastoma . Neuroblastoma ni ubwoko bwa kanseri ikunze kwibasira abana bari munsi y'imyaka 5. Hari abana bashobora no kubagwa indwara z'umutima, zishobora kubagwa. Ariko, iyo abaganga bavuwe neza kandi bagakurikiranwa neza , abana benshi barwaye Weaver Syndrome bashobora kubaho ubuzima bwiza kugeza bakuze.

Impamvu ni iyihe? Kuki ibi bibaho?

Weaver Syndrome ni indwara iterwa n'uturemangingo . Indwara iterwa n'uturemangingo ni indwara ibaho iyo habayeho impinduka (tubyita impinduka) mu turemangingo twacu. Weaver Syndrome ifitanye isano na gene yitwa EZH2. Iyi mpinduka muri gene ya EZH2 itera gutakaza amagufwa.Ikura vuba. Nanone, ibi bitangira uruhererekane rw'ibikorwa rugira ingaruka ku zindi ngirabuzimafatizo nyinshi mu mubiri. Niyo mpamvu Weaver Syndrome ishobora kugira ingaruka ku mitsi itandukanye, amagufwa, n'ingingo.

Ariko, abaganga ntibarasobanukirwa neza uburyo iyi `(EZH2)` itera Weaver Syndrome. Hafi kimwe cya kabiri cy'abantu bafite Weaver Syndrome bakura iyi gene mutation ku babyeyi babo. Niba nyina cyangwa se bafite iyi `(EZH2)` mutation, hari amahirwe agera kuri 50% ko umwana nawe azayiragwa igihe azaba abyaye umwana.

Ariko, Weaver Syndrome si ko buri gihe ivuka ku babyeyi. Hari abantu bashobora kugira iyi mihindukire y’uturemangingo (EZH2) nubwo ababyeyi babo batayigira.

Ni ibihe bimenyetso by'indwara ya Weaver Syndrome?

Ibimenyetso bya Weaver Syndrome rimwe na rimwe bishobora kugaragara umwana akiri mu nda . Mu gihe cyo gupima umwana utwite, muganga ashobora kubona ko amagufwa y'umwana ari maremare kuruta uko bisanzwe. Ibi nibibaho, muganga ashobora kuvuga ko umwana afite indwara yitwa macrosomia, bivuze ko umwana ari munini kuruta uko bisanzwe.

Niba umwana wawe arwaye Weaver Syndrome, ashobora kuba amaze igihe kinini avutse cyangwa afite ibiro byinshi . Abana barwaye Weaver Syndrome bakunze kurira mu ijwi rituje, ritoroshye kandi ritontoma.

Hari ubwo umwana ashobora kutagaragaza ibimenyetso bigaragara mu gihe cy'amezi menshi.

Muganga wawe ashobora kuvuga ko umwana wawe "amaze imyaka myinshi y'amagufwa." Ibi bivuze ko amagufwa ye arimo gukura vuba kurusha uko bisanzwe. Imikurire y'umwana wawe ishobora kwihuta cyane ku buryo ishobora no kurenza imbonerahamwe isanzwe y'imikurire.

Indwara ya Weaver ishobora gutera impinduka zikurikira mu miterere y'umutwe cyangwa mu maso:

• Agahanga kanini
• Uruhu rwinshi mu mfuruka y'imbere y'amaso (Epicanthal folds)
• Imiyoboro ya palpebral imanuka
• Indwara yo mu kirere (orbital hypertelorism) ( amaso ari kure cyane )
• Kugira umutwe munini (Macrocephaly)
• Amatwi manini cyangwa magufi
• Uburebure bw'umunwa uri hagati y'umunwa wo hejuru n'izuru bwiyongera
• Umusaya muto wo hasi `(Micrognathia)`

Indwara ya Weaver Syndrome ishobora kugira ingaruka ku bindi bice by'umubiri n'imitsi. Niba wowe cyangwa umwana wawe mufite iyi ndwara, mushobora kandi guhura n'ibi bikurikira:

• Indwara z'umutima wavukanye
• Clubfoot cyangwa metatarsus adductus
• Inkokora cyangwa amavi adashobora kwaguka neza
• Kudashobora kunagura intoki neza (Camptodactyly) n'amano manini manini
• Ubusembwa bw'ingingo z'amano
• Ubumuga bwo mu mutwe
• Kurekura kw'imitsi yo mu nda bishobora gutera hernia (gusohoka mu mara).
• Indwara ya Scoliose
• Kumva imitsi ikomereye mu maboko no mu maguru
• Kugorwa no kugera ku ntambwe z'iterambere mu bana bato n'impinja (urugero: gutinda guterura umutwe, kuzunguruka, kwicara no kugenda)

Ubimenya ute neza neza?

Niba umuganga wawe akeka ko afite Weaver Syndrome, ashobora gutumiza ibizamini bya genetiki kugira ngo arebe impinduka mu ngirabuzimafatizo za EZH2 . Ibi akenshi biba bikubiyemo gufata amaraso no kuyashyira muri laboratwari ipima ngirabuzimafatizo.

Hari igihe, muganga wawe ashobora gupima impinduka nyinshi mu ngirabuzimafatizo kugira ngo arebe ko hari izindi ndwara zikomoka ku ngirabuzimafatizo. Ibi byitwa itsinda ripima ngirabuzimafatizo . Ibi biterwa nuko hari izindi ndwara zikomoka ku ngirabuzimafatizo, nka Sotos syndrome, zifite ibimenyetso bisa na Weaver Syndrome. Rero, itsinda ripima nk'iri rishobora kugufasha kumenya neza impinduka mu ngirabuzimafatizo wowe cyangwa umwana wawe ufite.

Ni ubuhe buryo bwo kuvura indwara ya Weaver Syndrome?

Kugeza ubu nta muti uhari wa Weaver Syndrome. Ariko, muganga wawe ashobora kugufasha wowe cyangwa umwana wawe guhangana n'iyi ndwara binyuze mu gushyiraho gahunda y'ubuvuzi ishobora kuba ikubiyemo:

• Iyo hari ubumuga bwo mu mutwe, ubuvuzi bw'imyitwarire (urugero: uburezi bwihariye, ubuvuzi bw'imyitwarire) burahari.
• Niba hari indwara z'umutima zavukanye, zivure kandi uzifate neza ukoresheje ubuvuzi bw'umutima n'imitsi .
• Inkunga y'inyongera ku masomo no kwiga (urugero: uburezi bwihariye, umujyanama mu by'uburezi).
• Niba ufite ibibazo mu ngingo zawe, amaboko, cyangwa amaguru, ushobora gukenera kubagwa amagufwa cyangwa ubundi buryo bwo kuvura .
• Ubuvuzi bw'umubiri kugira ngo imitsi ikomere kandi ihuze neza.

Igikuru ni uko, kubera ko ibi byose bitandukanye bitewe n'umwana, itsinda ry'abaganga rihurira hamwe kugira ngo rikore iyi gahunda yo kwita ku mwana ikwiriye.

Ese hari uburyo bwo kwirinda Weaver Syndrome?

Ikibabaje ni uko nta buryo buzwi bwo kwirinda Weaver Syndrome buhari.Abana bashobora kubyiragwa n'ababyeyi babo, ariko bishobora no kwigaragaza mu buryo butunguranye nta muntu n'umwe wo mu muryango ubifite. Birashoboka ko umubyeyi aba ari we utera iyi mihindagurikire y'uturemangingo, ariko ashobora kuba atabizi.

Namenya nte ko ndi mu kaga?

Niba hari umuntu wo mu muryango wawe ufite indwara yandujwe cyangwa izwiho guhinduka kw'uturemangingo , ni byiza kubaza muganga wawe ibijyanye no gupima imiterere y'uturemangingo. Ibi bizamini bishobora kugaragaza impinduka zimwe na zimwe mu turemangingo zishobora gutera ibibazo by'ubuzima. Ibi bizamini bishobora kugufasha kumenya indwara z'uturemangingo ushobora kwanduza abana bawe.

Ni iki kizere cy’umuntu urwaye Weaver Syndrome?

Nubwo nta muti uhari wa Weaver Syndrome, abantu bafite iyi ndwara bashobora kubaho ubuzima bwiza iyo bafashwe neza. Igikuru ni ukubonana na muganga wawe buri gihe kugira ngo agufashe guhangana n'ibimenyetso byawe kandi abone ubuvuzi ukeneye. Bamwe mu bana barwaye Weaver Syndrome bashobora kurwara kanseri yitwa neuroblastoma, ariko abenshi ntibayirwara. Ariko, muganga wawe ashobora kukubwira ibimenyetso bya neuroblastoma kandi agakorera umwana wawe ibindi bipimo mu gihe bibaye ngombwa.

Ni ryari ukwiye gushaka inama kwa muganga? Ni ibihe bimenyetso ukwiye guhangayikishwa na byo?

Ni ngombwa kwisuzumisha buri gihe no kuganira na muganga wawe ku bibazo byose by’ubuzima bw’umubiri cyangwa ubwo mu mutwe ushobora kuba ufite. Kurikiza gahunda y’ubuvuzi muganga aguha. Niba umwana wawe afite Weaver Syndrome, nawe ukwiye kubikora.

By'umwihariko, niba umwana wawe asa n'ufite kimwe mu bimenyetso bikurikira bya neuroblastoma , menyesha muganga w'umwana wawe ako kanya:

• Amaso agaragara cyangwa utuziga twijimye dukikije amaso.
• Kugaragara kw'ikibyimba gishya cyangwa ikibyimba ku ijosi cyangwa ku gituza (igifu, mu gituza).
• Impiswi, kubabara mu gifu, kubura ubushake bwo kurya.
• Kumva unaniwe cyane bitewe n'umuriro cyangwa inkorora.
• Kugaragara kw'utubyimba tw'ubururu cyangwa umuhengeri munsi y'uruhu.
• Uruhu rwerurutse.
• Kubyimba inda.
• Kugorwa no guhumeka.
• Intege nke cyangwa ubumuga bw'amaguru n'ibirenge (nk'ukudashobora kugenda).

Amaherezo, ibintu byo kwibuka (Ubutumwa bwo kujyana mu rugo)

Ni ngombwa kumva ko Weaver Syndrome ari indwara idakunze kugaragara kandi igira ingaruka ku bantu bose mu buryo butandukanye . Nubwo nta muti uhari, hamwe n'ubuvuzi bukwiye n'uburyo bwo kwita ku bana bawe, wowe cyangwa umwana wawe mushobora kwihanganira ibimenyetso no kubaho ubuzima bwiza uko bishoboka kose. Ni ngombwa kwivuza buri gihe no gukurikiza amabwiriza ya muganga wawe. Niba wowe cyangwa umuntu wo mu muryango wawe afite ikibazo kuri ibi, ntutindiganye kuvugana na muganga. Azagufasha.

"Weaver Syndrome, Indwara z'uturemangingo, Gukura kw'amagufwa, Kuzamuka k'uburebure, EZH2 Gene, Neuroblastoma