Ese umwana wawe afite ibi bimenyetso? Reka tuvuge kuri Jacobsen Syndrome

Ese hari impinduka cyangwa ibibazo wabonye ku mikurire y'umwana wawe cyangwa uko asa mu maso? Hari igihe indwara idasanzwe nka Jacobsen Syndrome ishobora kuba ari yo itera ibi. Ntugahangayike, tuzakomeza koroshya ibintu byose.

Indwara ya Jacobsen Syndrome ni iki?

Mu magambo make, Jacobsen Syndrome ni indwara idakunze kugaragara ifitanye isano na chromosomes mu mubiri wacu. Genes zacu ziba kuri izi chromosomes. Muri iyi ndwara, genes nyinshi zirabura cyangwa zigasibwa mu gice cya chromosome yacu 11. Mu by'ukuri, genes izi zirabura mu mpera y'ukuboko kure (q arm) kw'iyi chromosome. Niyo mpamvu yitwa kandi 11q terminal deletion disorder.

Tekereza, iyo agace gato ka chromosome 11 kabuze, umubare wa za gene zangiritse nawo uragabanuka. Hanyuma ibimenyetso bishobora kugabanuka gato. Ariko iyo igice kinini kibuze, ibimenyetso birakomera cyane. Iyo hari abantu bafite igice gito gusa kibuze muri ubu buryo, byitwa partial Jacobsen syndrome cyangwa partial monosomy 11q. Monosomy bivuze ko igice kimwe cya chromosomes ebyiri kibuze.

Abana barwaye indwara ya Jacobsen Syndrome bagira ibibazo by'imikurire , ibibazo by'imyitwarire , n'imiterere yihariye mu maso . Abana benshi kandi bafite ibibazo by'umutima bavukanye . Bafite amahirwe menshi yo kugira indwara yo kuva amaraso yitwa Paris-Trousseau syndrome.

Kugeza ubu nta muti wuzuye uhari, kandi igihe cyo kubaho kiratandukanye bitewe n'umuntu ku giti cye.

Ni ibihe bimenyetso by'indwara ya Jacobsen?

Ibimenyetso bya Jacobsen Syndrome biratandukanye bitewe n'ingano n'aho byakuwe. Abantu benshi bagira gutinda mu mikurire y'imivugire no mu mikorere y'umubiri . Bashobora kandi kugira ubumuga bwo mu mutwe n'ubundi bumuga bwo kwiga .

Abana benshi barwaye indwara ya Jacobsen Syndrome nabo bafite ibibazo by'imyitwarire . Urugero, imyitwarire isaba imbaraga no kudafata umwanya munini. Abana benshi banafatwa n'indwara yitwa Attention-Deficit/Hyperactivity Disorder (ADHD) . Iyi ndwara inajyana n'ibyago byinshi byo kurwara Autism Spectrum Disorders .

Imiterere yihariye yo mu maso

Abana barwaye indwara ya Jacobsen Syndrome bafite imiterere itandukanye mu maso. Muri yo harimo:

• Kugira umutwe munini - macrocephaly
• Agahanga gafite isura iteye ubwoba bitewe n'ikibazo cy'agahanga gafite isura iteye nabi (trigonocephaly)
• Amatwi mato, afite ishingiro rito
• Amaso ari kure cyane - hypertelorism
• Amaso y'ijisho arekuye - ptosis
• Kuba hari agahu gapfundikiye mu mfuruka y'imbere y'ijisho - uduce dupfundikiye mu jisho
• Ikiraro kinini cy'izuru
• Impande z'umunwa zihindukirira hasi
• Umunwa wo hejuru muto
• Agace gato ko kugabanya

Ibindi bintu

Hari n'ibindi bintu byinshi bishobora kugaragara:

• Ubusembwa bw'umutima bw'imyororokere
• Ingorane zo kugaburira
• Gutinda gukura mbere na nyuma yo kubyara
• Mugufi
• Indwara zikunze kugaragara mu matwi no mu mazuru
• Utumenyero tw'igogora, impyiko n'imyanya ndangagitsina

Abantu benshi barwaye indwara ya Jacobsen Syndrome bafite kandi indwara yo kuva amaraso yitwa Paris-Trousseau syndrome . Ibi bigira ingaruka ku miyoboro y'amaraso y'umwana wawe. Imiyoboro y'amaraso ni ubwoko bw'uturemangingo dufasha kubumba amaraso. Mu ndwara ya Paris-Trousseau, umwana aba afite ibyago byo kuva amaraso adasanzwe mu buzima bwe bwose, kandi ashobora gukomereka byoroshye.

Ni izihe mpamvu zitera indwara ya Jacobsen?

Syndrome ya Jacobsen ni indwara ya chromosome . Nkuko mubizi, chromosomes ni ibintu birimo amakuru yacu ya gene (genes). Izi genes zigena uburyo umubiri wacu ugomba gukura no gukora. Ubusanzwe, mu mubiri w'umuntu haba hari chromosomes 22 zifite imibare, hamwe na chromosomes imwe y'igitsina. Buri chromosome ifite ukuboko kugufi (p arm) n'ukuboko kurekure (q arm).

Kuri bamwe, utunyangingo twinshi turi ku mpera y'ukuboko kure (q) kwa chromosome 11 turasibwa. Igice gisigaye cya chromosome 11 gisanzwe nta kibazo kirimo. Iyi ni yo mpamvu ya Jacobsen Syndrome. Uko ingano yo gusibwa iba nini, ni ko ibimenyetso birushaho gukomera. Bitewe n'ingano yo gusibwa, ako gace gashobora kubamo utunyangingo turi hagati ya 170 na 340. Utunyangingo turi muri aka gace nitwo dushinzwe iterambere ryiza ry'umutima, ubwonko, n'imiterere y'isura yacu.

Ese ibi ni ibintu bikomeye cyangwa biremereye?

Ingirabuzimafatizo cyangwa ingirabuzimafatizo zirekura bivuze uburyo uvana uturemangingo twawe ku babyeyi bawe.

Ariko,Kenshi na kenshi, indwara ya Jacobsen Syndrome ntabwo ari iyo mu muryango. Ni ukuvuga ko idakomoka ku babyeyi. Akenshi iterwa n'ikosa ritunguranye mu igabanyuka ry'uturemangingo mu gihe cy'imikurire y'umwana uri mu nda, bigatuma igice cya chromosome gitakaza. Nta cyo ababyeyi bashobora gukora ngo bayirinde, kandi nta cyo bashobora gukora ngo bayirinde. Abantu barwaye indwara ya Jacobsen Syndrome akenshi ntibaba bafite amateka y'umuryango wabo muri iyo ndwara. Ariko, bashobora kuyikura ku bana babo.

Ni gake cyane abantu barwaye indwara ya Jacobsen Syndrome bashobora kuragwa iyo bava ku mubyeyi udafite ibimenyetso. Ibi bibaho iyo umubyeyi agize ikibazo gikomeye cy’uturemangingo cyitwa “balanced translocation” . Mu magambo make, igice cya chromosome 11 n’igice cy’indi chromosomes zihinduranya. Ibi ntibigabanya imiterere y’uturemangingo, bityo ababyeyi ntibagaragaze ibimenyetso. Ariko, iyo izi chromosomes zandujwe, abana bashobora kugira ikibazo cyo kutamenyana.

Ni ibihe bintu bishobora gutera ibyago?

Indwara ya Jacobsen ni indwara iterwa n’uturemangingo ishobora kwibasira umuntu uwo ari we wese. Ubushakashatsi bumwe bwagaragaje ko ikunze kwibasira abakobwa gato.

Abaganga bapima iki kibazo gute?

Muganga wawe ashobora kuba ashobora gusuzuma indwara ya Jacobsen Syndrome mu gihe utwite. Niba scan ya ultrasound mbere yo gutwita igaragaje impungenge, muganga wawe ashobora kukugira inama yo gukomeza gupima. Ibizamini bisanzwe byo gusuzuma imiterere y'umubiri w'umwana utwite birimo:

• Gupima mbere yo kubyara bitanyuze mu maraso (NIPT): Ibi bikubiyemo gufata ADN y'umwana wawe mu maraso yawe no kugenzura niba nta kibazo kiri mu mubare wa chromosomes.
• Gufata ingero za virusi zo mu nda (CVS): Muganga akoresha urushinge kugira ngo afate ingero z'uturemangingo mu nda.
• Amniocentesis: Muganga akoresha urushinge kugira ngo afate urugero rw'amazi ya amniotic mu mura.

Nyuma y'uko umwana avutse, muganga w'umwana ashobora gusuzuma indwara ya Jacobsen Syndrome akoresheje ibizamini bya genetiki . Muri iki kizamini cya genetiki, muganga afata icyitegererezo cy'amaraso y'umwana akagisuzuma akoresheje mikorosikopi. Basiga ibara kuri chromosomes ziri muri icyo cyitegererezo, zisa n'aho ari barcode. Ibi bishobora gushaka chromosomes zavunitse, genes zibura. Ubusanzwe, igice cyavunitse kiba kiri kuri chromosome 11. Ariko, hakenewe ibizamini byinshi bya genetiki kugira ngo hamenyekane aho imvune yavunitse.

Ikindi kizamini ni Microarray Comparative Genomic Hybridization (Array CGH).Hari igihe impinduka nto cyane muri chromosomes, nto cyane ku buryo zitagaragara hifashishijwe mikorosikopi, zishobora gutera Jacobsen Syndrome. Ni bwo abaganga bakora iki kizamini cya Array CGH. Ibi bigaragaza impinduka nto cyane muri ADN mu chromosomes z'umwana. Bishobora kumenya niba ADN yasubiwemo, yahungabanye, cyangwa yabuze.

Indwara ya Jacobsen Syndrome ivurwa ite?

Nta muti uhari wa Jacobsen Syndrome. Ubuvuzi bwibanda cyane cyane kuri:

• Kugira ngo ucunge ibimenyetso by'umwana wawe
• Kugira ngo bimufashe kugera ku ntambwe ze z'iterambere
• Kugira ngo wirinde ingorane z'ubuzima

Ku bana bafite ikibazo cyo kurya, abaganga bashobora kubagira inama yo gukoresha umuyoboro wa gastrostomy (G-tube) . Uyu muyoboro ushyirwa mu nda y'umwana kugira ngo umuhe ibyo kurya. Kubagwa byitwa fundoplication bishobora gukosora ikibazo kiri ku muyoboro uri hasi mu muhogo.

Umwana wawe ashobora gukenera ubundi bubagwa. Urugero, kubagwa kugira ngo hakosorwe ibibazo byo mu mutwe, nka trigonocephaly . Kubagwa bishobora kandi gukenerwa kugira ngo hakosorwe ibibazo byo kureba cyangwa amaso. Kubagwa bishobora kandi gukenerwa kugira ngo hakosorwe inenge zo mu magufwa, iz'umutima, n'izindi.

Muganga w'umwana wawe ashobora kuguha imiti imwe n'imwe ivura ibibazo bimwe na bimwe by'umutima. Urugero, imiti igabanya ubukana bw'umutima . Iyi ni imiti ifasha gukumira cyangwa gukosora imivuduko idasanzwe y'umutima. Bashobora kandi kuguha imiti igabanya ubukana bw'amaraso . Iyi ni imiti ifasha gukura amazi arenze urugero mu mubiri.

Abaganga bashobora kukugira inama yo gukoresha indorerwamo, indorerwamo zo mu maso, cyangwa kubagwa bitewe n’ibibazo by’amaso.

Abaganga bashobora gutera amaraso cyangwa guterwa platelets kugira ngo bavure ingaruka za Paris-Trousseau syndrome . Bashobora kandi kuguha umuti witwa desmopressin , ufasha amaraso yawe kubumba.

Umwana wawe azagera ku ntambwe ze z'iterambere mu gihe runaka. Ariko, kwitabazwa hakiri kare bishobora kumufasha kugera ku bushobozi bwe bwose. Muganga w'umwana wawe ashobora kukugira inama ikurikira:

• Uburezi bwihariye bwo kuvura
• Ubuvuzi bw'umubiri
• Ubuvuzi bw'imivugire

Ni iki nakwitega mu gihe umwana wanjye afite Jacobsen Syndrome?

Imyaka yo kubaho kw'abantu barwaye Jacobsen Syndrome iratandukanye bitewe n'uburemere bw'ibimenyetso byabo. Bitewe n'indwara zikomeye z'umutima n'ibibazo byo kuvura amaraso, abana bagera kuri 20% barwaye Jacobsen Syndrome bapfa batarageza ku myaka 2.

Ariko, abana benshi barwaye indwara ya Jacobsen Syndrome bararokotse kugeza bakuze. Abantu bakuru bafite iyi ndwara bashobora kubaho ubuzima bwiza kandi bushimishije bafite ubwigenga butandukanye.

Ese indwara ya Jacobsen Syndrome ishobora kwirindwa?

Kubera ko ari indwara iterwa n'uturemangingo, indwara ya Jacobsen Syndrome ntishobora kwirindwa. Niba utwite cyangwa uteganya gutwita, baza muganga wawe ku birebana n'ubujyanama ku bijyanye n'uturemangingo . Umujyanama mu by'uturemangingo ashobora kugufasha gusobanukirwa ibyago byo kubyara umwana urwaye indwara ya Jacobsen Syndrome.

Kumenya ko umwana wawe afite indwara ya Jacobsen Syndrome bishobora gutera ubwoba. Ntugatinye, ahubwo fata umwanya wo kumenya byinshi bishoboka ku ndwara umwana wawe arwaye. Niba bishoboka, gerageza gushaka umuganga usobanukiwe n'uburwayi bw'umwana wawe. Ashobora guha umwana wawe uburyo bwiza bwo kuvura.

Kugira ngo ushobore guhangana n'indwara y'umwana wawe, shakisha amatsinda y'abaterankunga . Abandi bahuye n'ikibazo nk'icyawe bashobora kuguha ubumenyi n'imbaraga ukeneye kugira ngo ufashe umwana wawe.

Ubutumwa bwo kujyana mu rugo

Indwara ya Jacobsen ni indwara idakunze kugaragara kandi ishobora kuba igoye, ariko ibuka ko utari wenyine.

• Ibi biterwa n'impinduka mu ngirabuzimafatizo , ntabwo ari ikosa ry'ababyeyi.
• Gutahura umwana hakiri kare no kumugiraho ingaruka ni ingenzi cyane kugira ngo ubuzima bwe burusheho kuba bwiza.
• Shaka ubufasha ku baganga b'inzobere, abavuzi b'indwara z'inzobere, n'abajyanama .
• Imbaraga n'uburambe buva mu matsinda yo gushyigikirana n'abandi babyeyi ni ingenzi cyane.
• Buri mwana aratandukanye. Fata umwana wawe urukundo n'ukwihangana ukurikije ubushobozi bwe n'ibyo akeneye.

Niba ufite ikindi kibazo kuri ibi, ntutindiganye kuvugana na muganga wawe.

` Jacobsen Syndrome, ubusembwa bwa chromosome, chromosome 11, indwara ya genetiki, gutinda mu mikurire, Paris-Trousseau syndrome, ubusembwa bw'umutima wavutse, ubujyanama ku ngirabuzimafatizo