Ese imitsi y'umwana wawe ifite intege nke? Reka tuvuge ku ndwara yo kugabanya imitsi yo mu mugongo (SMA)

Ese wigeze ubona ko umwana wawe arembye gato, cyangwa ko atinda guhagarara umutwe we cyangwa kuzunguruka nk'abandi bana? Hari igihe, ni ibisanzwe kuri twe ababyeyi kugira impungenge iyo tubonye umwana muto yiruka hirya no hino, agwa, cyangwa afite ikibazo cyo kuzamuka ingazi. Nubwo ibi bimenyetso bitaba buri gihe ikimenyetso cy'ikintu gikomeye, hari igihe haba hari ikibazo kidasanzwe inyuma yabyo tugomba kumenya. Ibyo ni ukuremba kw'imitsi yo mu mugongo, cyangwa icyo twita mu buvuzi 'SMA'.

Mu magambo make, iyi SMA ni iki?

Kunanirwa kw'imitsi yo mu mugongo (SMA) ni indwara idakunze kubaho mu buryo bw'uturemangingo ituma imitsi ikora ku bushake, ari yo mitsi tugenzura, icika intege buhoro buhoro. Igira ingaruka cyane cyane ku turemangingo tw'imitsi yo hasi mu gice cyo hasi cy'umugongo wacu.

Tekereza muri ubu buryo. Ubwonko bwacu n'umugongo wacu byohereza ikimenyetso cy'amashanyarazi, cyangwa ubutumwa, ku mitsi yacu kugira ngo "igende." Ubu butumwa butwarwa n'uturemangingo tw'imitsi twihariye twitwa motor neurons. Kugira ngo utu turemangingo tw'imitsi tugume dufite ubuzima bwiza, poroteyine yitwa "Survival Motor Neuron" (SMN) ikorwa na gene yitwa SMN1 ni ngombwa.

Ku muntu urwaye SMA, bitewe n'inenge iri muri gene ya `SMN1`, poroteyine ya `SMN` ntabwo ikorwa mu rugero rukenewe. Iyo iyi poroteyine ibuze, uturemangingo tw'imitsi (neurons) dutwara ubwo butumwa buhoro buhoro turapfa. Hanyuma imitsi ntikira ibimenyetso bikenewe. Imitsi idakoreshwa igenda igabanuka buhoro buhoro ikagwa intege. Ibi nibyo twita gucika intege kw'imitsi .

Ni ibihe bimenyetso n'ubwoko bwa SMA?

Ibimenyetso bya SMA biratandukanye bitewe n'umuntu ku giti cye. Biterwa n'ingano ya poroteyine ya `SMN` ikorwa mu mubiri. Uretse gene nkuru yitwa `SMN1`, dufite na gene ya `helper` yitwa `SMN2`. Iyi gene ya `SMN2` inakora ingano runaka ya poroteyine ya `SMN`. Uko umuntu agira kopi nyinshi za gene ya `SMN2`, niko ibimenyetso birushaho kuba byoroshye.

SMA igabanyijemo ubwoko 5 bw'ingenzi hashingiwe ku myaka ibimenyetso bigaragaraho.

Ni iki gitera SMA?

SMA ni indwara y’uturemangingo ihererekanywa kuva ku gisekuru kugeza ku kindi. Mu by’ukuri, iragwa nk'ikintu cyo mu bwoko bwa 'autosomal recessive'. Ibyo bivuze iki?

Mu magambo make, kugira ngo umwana agire SMA, ababyeyi bombi bagomba kuzungura kopi ya gene ya SMN1 ifite inenge. Iyo umubyeyi umwe gusa azunguye gene yangiritse, umwana ntazarwara SMA. Ariko, umwana azaba "uwanduye" iyo ndwara. Ibi bivuze ko umwana atazagira ibimenyetso, ariko azakomeza kubasha guha abana be iyo gene yangiritse mu gihe kizaza.

Ni gute wasuzuma neza indwara?

Kimwe n'ibihugu byinshi muri iki gihe, abana bavutse bapimwa indwara nk'izi muri Sri Lanka. Ariko, rimwe na rimwe, cyane cyane abafite ibimenyetso byoroheje, bahita bamenyekana nyuma.

Niba ufite impungenge ku mwana wawe, muganga ashobora kukubaza ibibazo nk'ibi mugihe umubonye:

• Ese umwana wawe yatinze gutsinda intambwe z'iterambere nko gufata umutwe we hejuru no kuzunguruka?
• Ese biragoye ko umwana yicara cyangwa agahagarara wenyine?
• Ese wabonye ikibazo cyo guhumeka?
• Ni ryari wabonye ibi bimenyetso bwa mbere?
• Hari umuntu wo mu muryango wawe wigeze agira ibi bimenyetso mbere?

Uretse ibi bibazo, ibizamini bikurikira bishobora gukorwa kugira ngo byemezwe ko indwara ari yo:

• Gupima imiterere y'uturemangingo: Hafatwa ikizamini cy'amaraso hanyuma gene ya `SMN1` igapimwa mu buryo butaziguye kugira ngo harebwe niba ifite inenge cyangwa ibuze. Iki ni cyo kizamini nyamukuru cyo kwemeza indwara.
• Ikizamini cy'amaraso cya Creatine Kinase (CK): Iyo imitsi icitse intege, enzyme yitwa CK irarunda mu maraso. Iyo ibi biri hejuru, hashobora gukeka ko hari ibyangiritse mu mitsi.
• Ibizamini by'imitsi : Ibizamini nka Electromyogram (EMG) bigenzura uburyo imitsi yohereza ibimenyetso ku mitsi.
• MRI cyangwa CT scan: Shaka amashusho arambuye y'imbere mu mubiri, cyane cyane uruti rw'umugongo n'imitsi.
• Isuzuma ry'imitsi: Hari igihe agace gato k'imitsi gafatwa kagasuzumwa hifashishijwe mikorosikopi kugira ngo hemezwe imiterere y'ibyangiritse.

Ni ubuhe buryo bwo kuvura SMA?

Mu myaka icumi kugeza kuri cumi n'itanu ishize, SMA yari ifite uburyo bwo kuvura bufasha mu kugenzura ibimenyetso gusa. Ariko, muri iki gihe, hamwe n'iterambere rya siyansi y'ubuvuzi, hari uburyo bwinshi bwiza bwo kuvura ku isi bwibasira ikibazo cy'uturemangingo gitera SMA.

1. Ubuvuzi bufasha

Nubwo ibi bidakiza indwara, ni ingenzi kugira ngo ubuzima bw'umwana burusheho kuba bwiza.

• Inkunga yo guhumeka: Cyane cyane mu bwoko bwa 1 na 2, uko imitsi yo guhumeka igenda icika intege, hashobora gukenerwa agapfukamunwa kadasanzwe cyangwa, mu bihe bikomeye, imashini (ihumeka) yo gufasha mu guhumeka.
• Imirire no kumira: Kubera ko imitsi yo kumira iba idakomeye, ubufasha bw'inzobere mu by'imirire burakenewe kugira ngo umwana abone imirire myiza. Hari abana bakeneye kugaburirwa binyuze mu muyoboro wo kugaburira.
• Uburyo bwo gukora imyitozo ngororamubiri no kuvura indwara z’umubiri: Imyitozo ngororamubiri ishobora gufasha kurinda ingingo no gukomeza imitsi. Niba bibaye ngombwa, ushobora gukoresha imigozi yo gupfuka amaguru, akamashini ko kugenda, cyangwa amagare y’abamugaye akoresha amashanyarazi.
• Ingorane z'umugongo: Ku bana bafite scoliosis, muganga ashobora kubasaba kwambara corset yihariye (igitambaro cyo gukingira umugongo) kugira ngo umugongo uhore ugororotse.

2. Uburyo bwo kuvura bushingiye ku ngirabuzimafatizo

Iyi ni yo miti yahinduye uburyo bwo kuvura SMA.

• Nusinersen (Spinraza): Uyu muti utangwa nk'urushinge mu mazi yo mu ruti rw'umugongo. Ukora mu gukangura gene "ifasha" ya SMN2, twavuze mbere, bigatuma ikora poroteyine ya SMN nyinshi. Igomba gufatwa buri mezi make.
• Onasemnogene abeparvovec-xioi (Zolgensma): Ubu ni uburyo bwo kuvura imiterere y'uturemangingo butangwa mu mitsi rimwe. Busimbuza imiterere y'uturemangingo tw ...
• Risdiplam (Evrysdi): Uyu ni umuti w'amazi unyobwa buri munsi kandi ukora mu kongera umusaruro wa poroteyine ya `SMN` iva muri gene ya `SMN2`.

Nubwo ubu buryo bwo kuvura buhenze cyane, byagaragaye ko butuma abana barushaho gutera imbere mu mikurire yabo (gufata umutwe, kwicara) no kugenzura uko indwara zigenda. Ugomba kuganira na muganga wawe uburyo bwo kuvura bukwiriye umwana wawe.