Ese umwana wawe afite ibi bimenyetso? Reka tuvuge kuri Syndrome ya Phelan-McDermid

Ese wigeze wumva indwara ya Phelan-McDermid? Birashoboka ko utarigeze wumva iri zina, kuko ari indwara idakunze kugaragara mu buryo bw'uturemangingo. Iyi ndwara ishobora gutera ibibazo bitandukanye by'ubuzima, gutinda mu mikurire y'ubwenge, ndetse n'impinduka mu myitwarire, cyane cyane ku bana bato. Uyu munsi rero turabivugaho mu buryo bworoshye ushobora kumva. Ntugahangayike, ni ngombwa cyane kumenya aya makuru.

Indwara ya Phelan-McDermid ni iki?

Mu magambo make, indwara ya Phelan-McDermid ni indwara iterwa n'uturemangingo ishobora gutera ibibazo bitandukanye mu mubiri w'umwana, ubwenge bwe, n'imyitwarire ye. Urugero:

• Kugorwa no kurya.
• Intege nke z'imitsi.
• Gutinda mu mivugire n'izindi ntambwe z'iterambere.
• Hari abana bafite indwara nk'indwara ya Autism Spectrum Disorder.
• Hari n'igihe indwara nk'igicuri zishobora no kugaragara.

Hari irindi zina ry’ibi, ari ryo ``22q13.3 deletion syndrome.'' Nubwo izina rishobora gusa n’aho rigoye, reka tubiganireho.

Ni gake gashoboka gute kugira iyi ndwara?

Mu by’ukuri, iyi ndwara yitwa Phelan-McDermid syndrome ni gake cyane . Nk’uko abahanga mu bya siyansi babivuga, ifata abana bari hagati ya babiri na icumi ku bana ibihumbi ijana. Ariko, kubera ko bigoye kuyisuzuma, birashoboka ko abana benshi bayirwara kurusha uko bivugwa. Abana bari hagati ya 2200 na 2500 ni bo bonyine bayirwaye ku isi yose. Bityo ushobora kwiyumvisha ukuntu iyi ndwara idakunze kugaragara.

Ni iyihe sano iri hagati ya syndrome ya Phelan-McDermid na autisme?

Iki ni ikibazo abantu benshi bafite. Abana benshi barwaye indwara ya Phelan-McDermid bagaragaye ko bafite indwara ya autism spectrum disorder . Abahanga mu bya siyansi bavuga ko hafi 1% by'abana barwaye autism bashobora kuba barwaye indwara ya Phelan-McDermid. Ibi bivuze ko hari isano iri hagati y'ibyo byombi.

Kuki indwara ya Phelan-McDermid ibaho?

Noneho reka turebe icyabitera. Ibi biterwa n'impinduka muri chromosomes . Chromosomes ni utuntu duto turi mu turemangingo twacu. Muri two harimo genes zacu. genes ni nk'urutonde rw'amabwiriza agena byose kuva ku buryo umubiri wacu ugomba gukora, kugeza ku burebure bwacu, ibara ry'amaso, n'indwara dushobora kurwara.

Ubusanzwe, buri karemangingo k'umuntu gafite chromosomes 23, zose hamwe zikaba chromosomes 46. Umwana ufite indwara ya Phelan-McDermid afite agace gato ka chromosome 22 kabuze, cyangwa "kavuyemo." Niyo mpamvu yitwa kandi `22q13.3 deletion syndrome.'

Akenshi, iyi ndwara ntabwo iragwa n'ababyeyi. Uku gutakaza igice cya chromosome bibaho ku buryo butunguranye, ni ukuvuga iyo intanga ngore cyangwa intanga ngabo zivutse, cyangwa iyo urusoro rurimo gukura. Ariko, mu bihe bidasanzwe, ishobora kuragwa n'umubyeyi. Muri icyo gihe, umubyeyi cyangwa se ufite iyi ndwara afite amahirwe agera kuri 50% yo kuba umwana we yakira iyi ndwara.

Ni ibihe bimenyetso by'iyi ndwara?

Ibimenyetso bya Phelan-McDermid syndrome bishobora gutandukana cyane bitewe n'umuntu ku giti cye. Hari abantu bagira ibimenyetso bike, abandi bakagira byinshi. Hari ibimenyetso bigaragara igihe cyo kuvuka, mu gihe ibindi bigaragara mu bwana cyangwa mu bwana. Ibi bimenyetso bishobora kuba ku mubiri, mu myitwarire, mu bwenge, cyangwa se bikaba bivanze n'ibi byose.

Umwana wawe ashobora kugira ibimenyetso nk'ibi:

• Gutinda mu mikurire : Ibintu nko kutinyeganyega, kuticara, kutagenda. Tekereza nawe, abana bamwe batangira kwinyeganyega bafite amezi 6, abandi bakicara bafite amezi 9. Ariko umwana ufite iyi ndwara ashobora gufata igihe kirekire kugira ngo akore ibi bintu.
• Kongera kwihanganira ububabare : Ibi bivuze kumva ububabare buke ugereranyije n'abandi.
• Uburemere bw'imitsi (hypotonia) : Umubiri ushobora kumva urembye kandi urembye.
• Ibibazo byo kuvuga : Gutinda kuvuga cyangwa kudashobora kuvuga.
• Indwara zo gusinzira : Kugorwa no gusinzira, nko kubyuka kenshi.
• Kubira ibyuya bitari bisanzwe : Ibi bishobora gutuma umubiri ushyuha cyane vuba kandi ukabura amazi.
• Kugorwa no kurya cyangwa kumira .
• Ibibazo by'igogora : Isesemi ikunze kubaho, kuruka, no kuribwa mu gifu (indwara yo kuruhuka mu nda).

Abantu benshi barwaye indwara ya Phelan-McDermid nabo bafite indwara ya autism spectrum, bityo bashobora no kugira ibimenyetso by'imyitwarire nk'ibi:

• Kureba mu maso ni intege nke .
• Kumva ufite ubwoba no guhangayika mu gihe uri mu bandi .
• Gushishikazwa no guhekenya ibintu bitari ibyo kurya (urugero: ibikinisho, imyenda).
• Kumva umerewe nabi cyane iyo ukozeho : Kumva utameze neza iyo umuntu agukozeho.

Hari ibintu bimwe na bimwe byihariye bishobora kugaragara mu miterere y'abantu bafite iyi ndwara:

• Amaso yahumye.
• Ijisho rimanuka (ptosis).
• Amatwi manini cyangwa agaragara imbere.
• Ikirenge cya kabiri n'icya gatatu bishobora gusa nkaho bifatanye (by'ubuhanga).
• Kugira amaboko cyangwa ibirenge binini kandi binini.
• Umutwe ni muremure kandi ufite ishusho nto.
• Agasaya gafata ishusho y'icyitegererezo.
• Inzara z'amaguru nto cyangwa zidasanzwe.

Hari igihe iyi ndwara ijyana n'indwara z'umutima n'ibibazo by'impyiko.Ni gake cyane, aba bana bashobora kugira udusaho twuzuye amazi (arachnoid cysts) mu bwonko bwabo. Ibi bishobora gutera umuvuduko mwinshi mu mutwe, bigatera kubura amahoro, kurira, kuribwa umutwe, n'igicuri.

Iyi ndwara ipimwa ite?

Kubera ko ibimenyetso bya Phelan-McDermid rimwe na rimwe biba bitagaragara neza, bishobora kugorana kubimenya. Umwana wawe ashobora gukenera gupimwa inshuro nyinshi mbere yuko ahabwa isuzuma nyaryo. Muganga ashobora gukora ibintu nk'ibi:

• Gusuzuma umubiri w'umwana.
• Kubaza amateka y'ubuzima bw'umwana ku bijyanye n'ibimenyetso n'ubutinda bw'imikurire.
• Baza amateka y'ubuzima bw'umuryango kugira ngo urebe niba hari umuntu wo mu muryango wigeze kugira iyi ndwara.
• Saba gupima imiterere y'uturemangingo . Ibi akenshi biba bisaba gufata amaraso make. Ibi bishobora gukoreshwa kugira ngo harebwe niba agace ka chromosome kabuze.

Mu bihe bidasanzwe cyane, iyi ndwara ishobora kuba idaterwa na chromosome ibuze. Ahubwo, ishobora guterwa n'impinduka muri gene yitwa `SHANK3`. Niba nta gusiba kwa chromosome kwabonetse, muganga wawe ashobora no kukugira inama yo gupima iyi gene.

Niba ibizamini byemeza ko indwara ya `22q13.3 deletion syndrome`, muganga ashobora gutanga izindi suzuma nyinshi:

• Gupima imiterere y'umubiri w'ababyeyi bombi : Reba niba iki ari ikintu cyarazwe cyangwa ari ikintu gitunguranye.
• Isuzuma rya MRI (Magnetic Resonance Imaging) cyangwa CT (Computed Tomography) ry'ubwonko bw'umwana: Kugira ngo harebwe niba hari ibintu nk'ibi byavuzwe haruguru bya cyst arachnoid.
• Ultrasound y'impyiko : Kureba niba hari inenge mu mpyiko.
• Echocardiogram : Gusuzuma indwara z'umutima.
• Ikizamini cyo kumva.
• Isuzuma ryimbitse ry'amaso.
• Inyigo yo gusinzira.

Ese hari umuti wuzuye w'ibi?

Mu by’ukuri, nta muti uhari kuri ubu wa sida ya Phelan-McDermid. Intego y’ibanze yo kuvura ni ukugenzura ibimenyetso by’umwana, kumufasha gukora neza uko bishoboka kose, no gukumira ingorane zose zishobora kuvuka.

Itsinda ryita ku mwana wawe rishobora kuba rigizwe n'inzobere zitandukanye, harimo:

• Inzobere mu by'umutima
• Inzobere mu ndwara zo mu gifu
• Inzobere mu by'imitsi
• Inzobere mu ndwara z'imitsi
• Umuvuzi w'akazi: Umuntu ufasha abantu gukora imirimo ya buri munsi nko kurya no kwandika.
• Inzobere mu by'amagufwa n'ingingo (inzobere mu by'amagufwa n'ingingo)
• Umuvuzi w'umubiri: Umuntu ufasha gukomeza ibice by'umubiri byangiritse.
• Inzobere mu ndwara z'imivugire/indimi
• Inzobere mu by'imiti ikoreshwa mu ngirabuzimafatizo

Wibuke ko aba bahanga bose bakorana kugira ngo bahe umwana wawe ubuvuzi bwiza.

Ese iki kibazo gishobora kwirindwa?

Iyo umuntu amaze gupimwa indwara, nta buryo bwo gukemura impinduka mu ngirabuzimafatizo. Ariko, mu bihe bidasanzwe umwe mu babyeyi na we afite iyi ndwara, hari igihe ikoranabuhanga rya IVF cyangwa gupima abana batwite bishobora gukoreshwa kugira ngo bitazagera ku bana bazavuka.

Niba wowe cyangwa umuntu wo mu muryango wawe afite iyi ndwara, ni ngombwa cyane kuvugana na muganga cyangwa umujyanama mu by’uturemangingo . Bashobora kugusobanurira uburyo abana bawe bashobora kuzaragwa iyi ndwara.

Ese ejo hazaza hazaba hameze hate umwana wanjye aramutse agize iyi ndwara?

Ibi si bimwe kuri buri mwana. Biterwa n'ubwoko bw'ubumuga umwana afite n'uburemere bwabwo.

Ingaruka z'iyi ndwara ntizikunze gushyira ubuzima mu kaga. Ariko, abantu benshi bafite iyi ndwara bashobora gukenera ubuvuzi bw'ubuzima bwabo bwose no gukomeza kubashyigikira mu mibereho myiza. Kubwibyo, urukundo, kumva no gushyigikirwa n'abagize umuryango ni ingenzi cyane kuri abo bana.

Ni gute wakwita ku mwana nk'uyu?

Ni ngombwa kujyana umwana wawe kuri buri gahunda y'abaganga b'inzobere kugira ngo anonosore ubushobozi bwe. Kubera ko umwana wawe ashobora kuba afite ubushobozi buke bwo kubira ibyuya, menya ibi bikurikira:

• Irinde ubushyuhe bukabije .
• Ha umwana amazi ahagije yo kunywa (umurinde ko yabura amazi mu mubiri).
• Rinda izuba ryinshi .

Kubera ko abantu benshi barwaye indwara ya Phelan-McDermid bashobora kwihanganira ububabare bwinshi kandi bakagorwa no kuvuga ko bamerewe nabi, reba ibimenyetso byerekana ko umwana wawe ababara . Niba ubonye kimwe muri ibi, hamagara muganga wawe. Bashobora kugufasha kumenya niba umwana wawe ababara mu nda cyangwa ikindi kintu. Ibimenyetso by'ububabare bishobora kuba birimo:

• Kuba umuntu utuje kurusha uko bisanzwe, ntakunda gusabana n'abandi.
• Guhumeka vuba kurusha uko bisanzwe.
• Kurira cyangwa kudatuza cyane kurusha uko bisanzwe.
• Ufashe cyane ibitanda cyangwa ibintu biri hafi aho.
• Gukomeza umubiri, amaboko n'amaguru bigakomeza kudahinduka.
• Kugaragaza ububabare mu maso (urugero, gufunga amaso cyane, kwiruka iminwa).
• Kuboroga cyangwa gutaka.

Ni iki kindi ushobora kubaza muganga?

Niba umwana wawe afite indwara ya Phelan-McDermid, ushobora kubaza muganga ibi bibazo:

• Ese uku gusiba chromosomes byaravutse cyangwa ni ibintu bitunguranye?
• Ese umwana wanjye afite ibibazo nk'umutima, impyiko, cyangwa ubwivumbure bw'ubwonko?
• Ubumuga bwo mu mutwe bw'umwana wanjye bumugiraho ingaruka zingana iki?
• Ni ubwoko ki bw'inzobere umwana wanjye agomba kubonana na bo? Kangahe?
• Ese hari amatsinda y'abaterankunga ashobora kudufasha kwihanganira iki kibazo?
• Ese mutanga inama ku birebana n'ubujyanama mu bijyanye n'uturemangingo?
• Ese abandi bo mu muryango wacu bagomba gupimwa imiterere y’uturemangingo?

Amaherezo, ngomba kuvuga...

Indwara ya Phelan-McDermid ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Ishobora gutera gutinda kuvuga no gukura, ndetse n'indwara ya autisme spectrum. Niba hari umuntu wo mu muryango wawe wafashwe n'iyi ndwara yo gukuraho chromosomes, ntugatinye . Itsinda ry'inzobere rishobora kugufasha wowe n'umwana wawe. Intego nyamukuru hano ni ukunoza imikorere y'umwana wawe, gukumira ingorane zishobora kubaho, no gutanga ubujyanama ku bumenyi bw'uturemangingo nibiba ngombwa. Ntabwo uri wenyine , kandi hari abantu benshi bashobora kugufasha muri uru rugendo.

` Indwara ya Phelan-McDermid, Indwara ya Phelan-McDermid, Indwara y'uturemangingo, Chromosome, Autism, Gutinda k'iterambere, SHANK3