Ese umwana wawe arwaye iyi ndwara? Reka tuvuge kuri Edwards Syndrome cyangwa Trisomy 18.

Ku bantu biteze kuba umubyeyi, cyangwa se biteze ko undi muntu mushya azaza mu muryango wanyu, ibi bishobora kumvikana nk'ibintu bikomeye. Ariko, hari ibintu bimwe na bimwe tudakunda kumva rimwe na rimwe, ariko ni ingenzi cyane kumenya. Uyu munsi tugiye kuvuga kuri kimwe muri ibyo bibazo. Iyo ni indwara ya Edwards Syndrome, izwi kandi nka Trisomy 18, indwara ikomeye cyane iterwa n'uturemangingo.

Indwara ya Edwards ni iki?

Mu magambo make, indwara ya Edwards Syndrome ni indwara iterwa n’uturemangingo (genetic) igira ingaruka zikomeye ku mikurire n’imikurire y’umwana . Abana bavukanye iyi ndwara bavukana ibiro bike. Bafite kandi ubumuga butandukanye bwo kuvukana n’imiterere yihariye y’umubiri. Ni ibisanzwe kumva ubabaye kandi ufite ubwoba iyo ubyumvise. Ariko reka tubiganireho cyane, sibyo?

Ni nde ushobora kurwara indwara ya Edwards Syndrome (Trisomy 18)?

Mu by’ukuri, indwara ya Edwards Syndrome (Trisomie 18) ishobora kuba ku mwana w’umuntu uwo ari we wese . Ibaho ku buryo butunguranye, bivuze ko bitateganyijwe, iyo kopi y’inyongera ya chromosome 18 ibonetse mu turemangingo tw’umwana. Ariko, byagaragaye ko uko umubyeyi akura, ni ukuvuga niba umubyeyi afite imyaka irenga 35 mu gihe cyo gutwita, ari na ko ibyago byo kurwara iyi ndwara byiyongera . Ariko ibuka ko niba umwana umwe afite iyi ndwara, amahirwe yo kurwara undi mwana aba make cyane (ari munsi ya 1%).

Indwara ya Edwards Syndrome (Trisomy 18) ikunze kugaragara gute?

Iyi ndwara, Edwards Syndrome (Trisomy 18), igaragara ku mwana umwe mu bana 5.000 kugeza ku 6.000 bavutse ari bazima. Ariko, mu gihe cyo gutwita, iyi ndwara ikunze kugaragara cyane, ikaba igaragara ku mwana umwe mu bana 2.500 batwite. Ikibabaje ni uko ingorane zijyanye n'iki kibazo zikunze gutuma umwana utwite atakaza inda ye (gukuramo inda) cyangwa akavuka yapfuye .

Ni ryari indwara ya Edwards Syndrome (Trisomy 18) yavumbuwe?

Iyi ndwara yitwa Edwards syndrome (Trisomy 18), yavumbuwe bwa mbere mu 1960 na John Hilton Edwards n'ikipe ye. Bayivumbuye ubwo bakoraga ubushakashatsi ku mwana uvutse wari ufite ibibazo bitandukanye byo kuvukana ndetse n'ibibazo byo mu mikurire y'ubwenge. Bavuze ko iyi ndwara yatewe no kongeramo kopi ya gatatu ya chromosome 18 (niyo mpamvu yitwa trisomy 18).

Ni ibihe bimenyetso bya Edwards Syndrome (Trisomy 18)?

Ibimenyetso by'umwana urwaye indwara ya Edwards syndrome (Trisomy 18) bikunze kugaragara mbere na nyuma yo kuvuka . Ibimenyetso by'ingenzi birimo gukura nabi cyane, kuvukana ibibazo byinshi, no gutinda cyane mu mikurire cyangwa ubumuga bwo kwiga .

Ibimenyetso bigaragara mu gihe utwite

Muganga wawe azareba ibi bintu mu gihe cyo gupima ultrasound mu gihe utwite:

• Ingendo nke cyane z'umwana uri mu nda.
• Umutsi w'inkondo yawe ufite umutsi umwe gusa (ubusanzwe uba urimo ibiri).
• Ingobyi ni nto cyane.
• Kuba hari ubumuga butandukanye bwo kuvukana.
• Ubwinshi bukabije bw'amazi yo mu nda akikije umwana uri mu nda bwitwa ``polyhydramnios''.

Nubwo hari abana bamwe barwaye indwara ya Edwards Syndrome bavuka ari bazima, akenshi bakuramo inda cyangwa bagapfa mu mezi atatu ya mbere yo gutwita .

Ibimenyetso bigaragara nyuma yo kuvuka

Nyuma yo kuvuka k'umwana, umwana ufite indwara ya Edwards syndrome (Trisomy 18) ashobora kugira imiterere y'umubiri ikurikira:

• Kugabanuka kw'imitsi (hypotonia) - umwana yumva yoroshye cyane.
• Earlobes zishyirwa hasi ugereranyije n'ibisanzwe.
• Ingingo z'imbere (nk'umutima n'ibihaha) zishobora kudakora neza cyangwa imikorere yazo igahinduka.
• Ibibazo by'iterambere ry'ubwenge (akenshi birakomeye cyane ).
• Amano afatanye hejuru y'andi cyangwa ibirenge bikururanye (`(ibirenge by'ikibuno)`).
• Umubiri, umutwe, umunwa n'umusaya ni bito cyane.
• Kurira hasi cyane no kudakira neza cyane ku majwi .

Ibimenyetso bikomeye bya syndrome ya Edwards (Trisomy 18)

Kubera ko umubiri w'umwana urwaye indwara ya Edwards Syndrome (Trisomy 18) uba utarakura neza, ingaruka mbi z'iyi ndwara ni mbi cyane, akenshi zikaba zishobora gushyira ubuzima mu kaga . Zimwe muri zo zirimo:

• Indwara z'umutima n'indwara z'impyiko.
• Kutabasha guhumeka neza (kunanirwa guhumeka).
• Ibibazo n'ubumuga bwo kuvukana mu buryo bw'igogora (`(Inzira y'igifu)`) n'urukuta rw'inda.
• Hernias (`(Hernias)`).
• Indwara ya Scoliose.

Tekereza kuri ibi: Hafi 90% by'abana barwaye indwara ya Edwards Syndrome (Trisomy 18) bafite indwara y'umutima. Iyi ni yo mpamvu nyamukuru itera impfu z'imburagihe muri abo bana, nyuma yo kunanirwa guhumeka.

Ni iki gitera indwara ya Edwards Syndrome (Trisomy 18)?

Mu magambo make, indwara ya Edwards syndrome (Trisomie 18) iterwa no kuba hari kopi eshatu za chromosome 18 aho kuba ebyiri zisanzwe .

Noneho, reba, twese dufite chromosomes 46 mu mibiri yacu, zigabanyemo ibice 23. Izi chromosomes zirimo ADN yacu (amabwiriza umubiri wacu ukeneye kugira ngo ukure no gukora). Duhabwa seti imwe y'izi chromosomes kuri mama wacu n'indi kuri data.

Iyo uturemangingo tw’umubiri tuvutse, dutangira ari uturemangingo tw’imyororokere mu ngingo z’imyororokere (intanga ngabo mu bagabo, amagi mu bagore). Utwo turemangingo twigabanyamo ibice (mu buryo bwitwa "meiosis") maze tukigana kugira ngo tugire utwo tubiri. Utwo turemangingo tuba dufite kimwe cya kabiri cya ADN nk’uturemangingo tw’umwimerere, ni ukuvuga 23 muri chromosomes 46. Buri turemangingo tw’umubiri dufite umubare.

Iyo izi chromosomes ebyiri zigomba gutandukana mu gihe cyo gukora amagi n'intanga ngabo, rimwe na rimwe chromosomes ebyiri ntizitandukana neza (nk'ikintu gifata), kandi kopi zombi zirangira mu gigi kimwe cyangwa intanga ngabo imwe. Hanyuma, mu gihe cyo gusama, zihurira na kopi imwe y'undi mubyeyi, bigatuma kopi eshatu zose . Ubu bwoko bw'itandukaniro rya chromosomes ni ikintu gitunguranye, ntigishoboka, kandi ntigiterwa n'ikintu icyo ari cyo cyose ababyeyi bakoze mbere cyangwa mu gihe cyo gutwita .

Iyo hongewemo kopi ya gatatu y'uruhererekane rw'ama-chromosome, byitwa trisomi. Trisomi bivuze ikintu gisa n' "imibiri itatu." Umuntu urwaye indwara ya Edwards Syndrome aba afite kopi ya gatatu ya chromosome 18 mu turemangingo twayo.

Indwara ya Edwards Syndrome (Trisomy 18) ipimwa ite?

Gusuzuma indwara ya Edwards Syndrome (Trisomy 18) akenshi bitangira mu gihe cyo gutwita . Isuzuma ryemezwa mbere cyangwa nyuma yuko umwana avuka. Muganga wawe asanzwe akora isuzuma rya ultrasound kugira ngo arebe ibimenyetso bya Edwards Syndrome (Trisomy 18) areba uko umwana agenda, ingano y'amazi yo mu nda, n'ingano y'ingobyi. Niba hagaragaye ibimenyetso by'iyi ndwara, muganga wawe azagusaba gukomeza gupimwa kugira ngo yemeze ko ari yo ndwara.

Ni ibihe bipimo bikoreshwa mu gusuzuma indwara ya Edwards Syndrome (Trisomy 18)?

Mu gihe cyo gutwita, iyo umwana agaragaje ibimenyetso bya Edwards Syndrome (Trisomy 18), muganga ashobora kumuha ibizamini bitandukanye kugira ngo yemeze ko arwaye, urugero:

• Amniocentesis : Hagati y'ibyumweru 15 na 20 by'inda, muganga wawe azafata urugero ruto rw'amazi ya amniotic maze ayapime kugira ngo amenye ubuzima bw'umwana wawe.
• Gupima intanga ngore (CVS) : Hagati y'ibyumweru 10 na 13 by'inda, muganga wawe afata urugero ruto rw'uturemangingo two mu nyababyeyi maze akadupima kugira ngo arebe niba hari imiterere y'uturemangingo.
• Gupima : Nyuma y'ibyumweru 10 utwite, icyitegererezo cy'amaraso yawe gishobora gupimwa kugira ngo harebwe niba umwana wawe afite indwara zisanzwe za chromosomes, nka trisomie 18.

Nyuma yo kuvuka k'umwana, muganga azasuzuma umutima w'umwana akoresheje ultrasound scan, amenye ibibazo by'umutima bishobora kuba byaratewe n'iki kibazo, hanyuma afate ingamba zo kuvura.

Indwara ya Edwards Syndrome (Trisomy 18) ivurwa ite?

Kenshi na kenshi, iyi ndwara iba ikomeye cyane ku buryo abana bavutse ari bazima bahabwa ubuvuzi buhumuriza.Ibyo bivuze gufasha umwana kumva amerewe neza kandi nta bubabare afite. Ariko, uburyo bwo kuvura indwara ya Edwards Syndrome (Trisomy 18) buratandukanye kuri buri mwana, bitewe n'uburemere bw'indwara . Nta muti wa Edwards Syndrome (Trisomy 18) uhari .

Uburyo bwo kuvura indwara ya Edwards syndrome (Trisomy 18) bushobora kuba burimo:

• Uburyo bwo kuvura indwara z'umutima : Hafi abana bose barwaye indwara ya Edwards syndrome (Trisomy 18) barwara indwara z'umutima. Nubwo atari abana bose bashobora kubagwa, bamwe bashobora kubagwa.
• Inkunga yo kugaburira : Abana barwaye indwara ya Edwards syndrome (Trisomy 18) bashobora kugira ikibazo cyo kurya neza bitewe n'uko umwana atinda gukura. Bashobora gukenera kugaburirwa binyuze mu muyoboro w'ifunguro kugira ngo babashe guhangana n'ibibazo byo kugaburira hakiri kare.
• Uburyo bwo kuvura amagufwa : Abana bafite indwara ya Edwards syndrome (Trisomy 18) bashobora kugira ibibazo by'umugongo, nko kuvura amagufwa. Ibi bishobora kugira ingaruka ku kuntu umwana agenda. Uburyo bwo kuvura amagufwa bushobora kuba burimo gusigwa amaguru cyangwa kubagwa.
• Ubufasha mu by'imitekerereze n'imibereho myiza : Kubyara umwana urwaye indwara ya Edwards Syndrome (Trisomy 18) bisaba ubufasha kuri wowe, umuryango wawe, n'umwana wawe. Uzakenera ubufasha kugira ngo uhangane n'agahinda ko kubura umwana wawe, cyane cyane niba ubuze umwana wawe, cyangwa kugira ngo uhangane n'indwara ikomeye umwana wawe afite.

Nigute nagabanya ibyago byo kurwara indwara ya Edwards Syndrome (Trisomy 18)?

Kubera ko indwara ya Edwards syndrome (Trisomiya 18) mu by’ukuri iterwa n’impinduka mu miterere y’uturemangingo, nta buryo bwo kuyikumira . Ariko, niba wujuje ibisabwa kugira ngo upimwe mu buryo bw’uturemangingo no gupimwa intanga ngore (preimplantation genetic testing) hamwe no gushora urubyaro mu buryo bwa vitro (IVF), ushobora kugabanya cyane amahirwe yo kubyara umwana ufite indwara ya Edwards syndrome (Trisomiya 18). Niba uteganya gutwita, vugana na muganga wawe ku birebana n’ubujyanama mu by’uturemangingo kugira ngo umenye ibyago byo kubyara umwana ufite iyo ndwara.

Bigenda bite iyo ufite umwana urwaye indwara ya Edwards Syndrome (Trisomy 18)?

Nta muti uhari wa Edwards Syndrome (Trisomie 18). Inyinshi mu nda zirangira zirimo gukuramo inda cyangwa kubyara umwana wapfuye . Mu nda zikomeza kubaho kugeza mu gihembwe cya gatatu, hafi 40% by'abana barwaye Edwards Syndrome (Trisomie 18) ntibaba bakiriho bavutse, kandi hafi kimwe cya gatatu cy'ababa bakiriho bavuka imburagihe.

Igipimo cyo kubaho kw'abana bavutse bafite indwara ya Edwards Syndrome (Trisomy 18) ni iki gikurikira:

• Hagati ya 60% na 75% bararokoka icyumweru cya mbere.
• Hagati ya 20% na 40% barokoka mu kwezi kwa mbere.
• Abarenga 10% ntibizihiza isabukuru yabo ya mbere y'amavuko.

Abana bavutse bafite indwara ya Edwards Syndrome (Trisomy 18) bakeneye kwitabwaho byihariye ako kanya nyuma yo kuvuka, hakurikijwe ibimenyetso byabo byihariye.Amahirwe yo kurokoka ni make cyane, cyane cyane iyo umwana yagize ikibazo cy’imikurire y’ingingo ze cyangwa afite ikibazo cy’umutima yavukanye. Mu bana 10% barokotse isabukuru yabo ya mbere y’amavuko, bamwe mu bana babaho ubuzima bwiza bafashijwe cyane n’imiryango yabo n’ababitaho. Ariko akenshi ntibigera biga kugenda cyangwa kuvuga.

Ni ryari ngomba kubonana na muganga?

Iyo umwana ufite indwara ya Edwards syndrome (Trisomy 18) ari mu nda, hari ibyago byo gukuramo inda cyangwa gutakaza inda. Niba utwite, jya kwa muganga vuba niba ufite ibimenyetso byo gukuramo inda :

• Kubabara mu nda.
• Niba wumva urimo gukonja kandi ufite umuriro.
• Kubabara umugongo.
• Niba uva amaraso menshi kurusha uko bisanzwe (kuva amaraso menshi).
• Kubabara mu nda yo hasi.

Ni ryari nkwiye kujya mu cyumba cy’ubutabazi bw’ibanze?

Niba umwana wawe wavutse afite indwara ya Edwards Syndrome (Trisomy 18) afite kimwe muri ibi bimenyetso, mujyane mu cyumba cy’ubutabazi bwihuse, cyangwa uhamagare 1990 :

• Niba uhumeka vuba cyane cyangwa buhoro cyane, cyangwa udahumeka na gato.
• Iyo uruhu cyangwa iminwa bihindutse ubururu cyangwa umuhengeri.
• Niba umutima utera vuba cyane.
• Niba bigoye kurya.
• Niba umubiri wose wabyimbye.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Muri iki gihe, ushobora kuba ufite ibibazo byinshi. Baza muganga wawe ibintu nk'ibi:

• "Ni izihe ngaruka mbi mfite zo kubyara umwana ufite ikibazo cy'uturemangingo?"
• "Ni ubuhe buryo bwo kuvura ibimenyetso by'umwana wanjye?"
• "Ni iki nakora kugira ngo umwana wanjye agire ubuzima bwiza mu gihe atwite?"

Gusuzuma indwara ya Edwards Syndrome (Trisomy 18) bishobora kugorana cyane. Ingorane ziterwa n'iyi ndwara zishobora kuba nyinshi cyane. Muganga wawe azagufasha wowe n'umuryango wawe muri uru rugendo , byaba ari ukwita ku ndwara umwana wawe yahuye nayo cyangwa guhangana n'urupfu rw'umwana wawe. Niba uteganya gutwita, vugana na muganga wawe ku birebana n'ubujyanama ku bijyanye n'uturemangingo kugira ngo umenye ibyago byo kubyara umwana ufite ikibazo cy'uturemangingo.

Ibintu by'ingenzi cyane ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Noneho reka mvuge muri make bimwe mu byo twaganiriyeho mbona bizaba ingenzi kuri wowe:

• Indwara ya Edwards, cyangwa Trisomy 18, ni indwara ikomeye iterwa n'uturemangingo .
• Ibi biterwa n'inyongera ya chromosome 18. Ibi ni impanuka, si ikosa ry'ababyeyi.
• Ibi bishobora kumenyekana binyuze mu gupima no mu bindi bipimo byihariye (`(Amniocentesis)`, `(CVS)`) byakozwe mu gihe cyo gutwita.
• Nta muti uhari kuri iyi ndwara, ubuvuzi bugamije kugenzura ibimenyetso no gutuma umwana yumva amerewe neza.
• Impinja nyinshi ntiziramba , ariko hari abana barokoka bitewe n'urukundo n'inkunga by'imiryango yabo.
• Niba utwite kandiNiba ugaragaje ibimenyetso byo gukuramo inda, shaka ubufasha kwa muganga byihutirwa.
• Niba warafashwe n'iyi ndwara, ntabwo uri wenyine . Shaka ubufasha ku baganga, imiryango, n'abajyanama.

Ndizera ko aya makuru azagufasha. Biragoye kuvuga ku ngingo nk'izi z'ingenzi, ariko birakwiye kubimenya.

Indwara za Edwards , Trisomie 18, Indwara z'uruhererekane rw'uturemangingo, chromosomes, gutwita, ubuzima bw'umwana, ubusembwa bw'ivuka