Umwana urwaye uburwayi budasanzwe yatangaje abaganga nyuma y'ubuvuzi bwa mbere ku isi bw'ingirabuzimafatizo

Umwana w'umuhungu w'imyaka itatu yatangaje abaganga kubera intambwe agezeho nyuma yo kuba umuntu wa mbere ku isi ufite iyi ndwara ikaze uhawe ubuvuzi bwifashisha ingirabuzima-fatizo (ibizwi nka 'gene therapy').

Oliver Chu arwaye indwara y'imbonekarimwe yitwa Hunter syndrome - cyangwa MPSII - itera kwangirika gukabije kw'umubiri n'ubwonko.

Ku bo yakariye cyane, abarwayi b'iyi ndwara bapfa batarageza ku myaka 20. Ingaruka zayo rimwe na rimwe zisobanurwa nk'ubwoko bwo ku bana bw'indwara itera no kwibagirwa (izwi nka dementia).

Kubera ko ingirabuzima-fatizo (gènes) ziba zangiritse, mbere yo kuvurwa Oliver ntiyashoboraga gukora 'enzyme' ikenewe cyane kugira ngo uturemangingo dukomeze gukora neza.

Ku nshuro ya mbere ku isi, abaganga bo mu mujyi wa Manchester mu Bwongereza bagerageje guhagarika iyi ndwara bahindura uturemangingo twa Oliver hakoreshejwe ubuvuzi bw'ingirabuzima-fatizo.

Prof Simon Jones, uri mu bayoboye iri gerageza, yabwiye BBC ati: "Maze imyaka 20 ntegereje kubona umwana nka Ollie ameze neza gutya, kandi biranejeje cyane."

Oliver ni umwe mu bana batanu b'abahungu ku isi, bahawe ubu buvuzi bikozwe n'itsinda ry'abaganga bo mu bitaro bya Royal Manchester Children's Hospital.

Umwaka umwe nyuma yo gutangira kuvurwa, uko bigaragara Oliver arimo gukura mu buryo busanzwe.

Nyina Jingru yabwiye BBC ati: "Buri gihe iyo mvuga kuri uyu mwana n'uburwayi bwe, mba numva nshaka gusuka amarira menshi kuko birantangaza cyane."

BBC yakurikiranye inkuru ya Oliver mu gihe kirenga umwaka, harimo n'uko abashakashatsi bo mu Bwongereza bateje imbere ubu buryo bushya bwa 'gene therapy' n'uko igerageza ry'ubuvuzi ryari hafi gusubikwa kubera kubura amafaranga.

Gukuramo uturemangingo – Ukuboza 2024

Twahuye bwa mbere na Oliver na se Ricky mu kwezi kw'Ukuboza (12) 2024, ku kigo cy'ubushakashatsi ku bitaro bya Royal Manchester Children's Hospital. Wari umunsi ukomeye.

Kuva yamenya ko afite Hunter syndrome muri Mata (4), ubuzima bwa Oliver kimwe n'ubw'umuvandimwe we mukuru Skyler, na we urwaye iyi ndwara, bwabaye ubwo gusiragira kwa muganga.

Skyler yari yaragaragaje gukererwa mu mvugo no mu kugenda, ariko mbere byari byarabanje kuvugwa ko byatewe no kuvuka mu gihe cya Covid.

Ricky yabwiye BBC ko kumenya ko abana be bafite iyi ndwara byamuhungabanyije cyane kuko byari ibintu bibabaje.

Yunzemo ati: "Iyo ukimenya Hunter syndrome, ikintu cya mbere muganga akubwira ni ukukubuza gashaka amakuru kuri internet kuko uzabonaho amakuru mabi y'urucantege cyane kandi ibyo aho kugufasha biraguhungabanya."

Yakomeje avuga ko n'ubwo muganga yari yamubujije, nk'abandi bose, yabishakishije amaze kubona ayo makuru asigara yumiwe gusa.

"Ariko, nk'undi muntu uwo ari we wese, birangira ubirebye, ukagira uti: 'Mana yanjye, ibi ni byo bigiye kuba ku bahungu banjye bombi?'"

Abana bavuka basa nk'aho ari bazima, ariko bageza ku myaka ibiri bagatangira kugaragaza ibimenyetso by'indwara.

Ibyo bimenyetso biratandukanye, bishobora kuba guhinduka ku isura, kugagara kw'ingingo no kudakura kw'ibice by'umubiri maze umwana akaba mugufi.

Ibi kandi bishobora gukwira umubiri wose, harimo umutima, umwijima, amagufwa n'imikaya, kandi hari n'ubwo ikomera cyane igatera ubumuga bukabije bwo mu bwonko no gusubira inyuma mu mikorere yabwo.

Hunter syndrome ikunze kugaragara ku bana b'abahungu gusa. Ni indwara idakunze kubaho cyane kuko igaragara ku mwana umwe mu bahungu 100,000 bavuka ku isi.

Kugeza ubu, umuti rukumbi wari uhari kuri Hunter syndrome ni Elaprase, ugura amapawundi 300,000 (angana na miliyoni 570 FRW) ku murwayi buri mwaka, ukaba ushobora kugabanya ingaruka yayo ku mubiri ariko ntuyikize burundu, udashobora kwinjira mu bwonko, bityo ntufashe mu bibazo by'imitekerereze.

Kuri ubu, Oliver arimo kwinjizwa mu mashini ikuramo uturemangingo tumwe, intambwe ya mbere ikomeye mu kugerageza guhagarika iyi ndwara.

Dr Claire Horgan, inzobere mu kuvura abana bafite ibibazo by'amaraso, agira ati: "Amaraso ye anyuzwa mu mashini ikomeye ikuramo ubwoko bwihariye bw'uturemangingo twitwa 'stem cells' tukoherezwa muri 'laboratoire' kugira ngo duhindurwe hanyuma dusubizwe mu mubiri we."

Guhindura uturemangingo twa Oliver

Uturemangingo (cells) twa Oliver twegeranywa neza tukoherezwa kuri 'laboratoire' yo ku bitaro bya Great Ormond Street Hospital (GOSH) by'i London.

Mu ndwara ya Hunter syndrome, ikosa mu ngirabuzima-fatizo (gene) rituma uturemangingo tutabona amabwiriza yo gukora 'enzyme' yitwa iduronate-2-sulfatase (IDS), ikenewe mu gusenya ibinyabutabire bikomeye by'isukari bigenda byiyongera mu ngingo n'imyanya y'umubiri.

Abashakashatsi bashyira ingirabuzima-fatizo ya IDS muri virusi, nyuma yo gukuramo ibinyabutabire byayo kugira ngo itazatera indwara.

Uburyo nk'ubu bukoreshwa no mu bundi buvuzi bw'ingirabuzima-fatizo, nko mu kuvura indi ndwara y'imbonekarimwe ikomoka ku babyeyi izwi nka MLD.

Dr Karen Buckland, wo muri Serivisi y'Ubuvuzi bwa selule n'uturemangingo (Cell and Gene Therapy Service) ku bitaro bya GOSH, abisobanura muri aya magambo:

"Dukoresha uburyo bwa virusi kugira ngo dushyiremo kopi ikora neza y'uturemangingo twangiritse muri buri selule umurwayi yari asanganywe (stem cell).

"Nyuma yaho selule zigarurwa mu mubiri wa Oliver, maze zikongera kujya mu mwanya wazo ubundi zigatangira gukora uturemangingo tw'umweru two mu maraso (white blood cells), kandi buri kamwe muri utu turemangingo kazatangira gukora poroteyine (enzyme) yaburaga mu mubiri we."

Icyo gihe, ikibazo cy'ingorabahizi kiba gisigaye ni uburyo bwo kugeza 'enzyme' ihagije mu bwonko.

Kugira ngo bicyemuke, uturemangingo twashyizwemo (gene) twahinduwe kuburyo 'enzyme' ikorwa ishobora kwambuka urukuta rw'amaraso rujya mu bwonko (blood-brain barrier) kandi bigakorwa neza kurushaho.

Umunsi wo gutangira kuvurwa – Gashyantare (2) mu 2025

Twongeye guhura na Oliver ku kigo cy'ubushakashatsi bw'ubuvuzi ku bitaro bya Royal Manchester Children's Hospital.

Aha yari ari kumwe na nyina Jingru, mu gihe Ricky yasigaye muri California muri Amerika arera Skyler.

Wabonaga noneho hari icyizere ubwo umwe mu bagize itsinda ry'ubushakashatsi yafunguraga ikigega kinini gikonjesha (cryopreservation tank) kirimo selule z'inkomoko za Oliver zahinduriwe uturemangingo.

Baziterurana n'ububiko bwazo, zigashyirwa mu kintu kirimo amazi afite ubushyuhe nk'ubwo mu mubiri.

Nyuma yo kugenzura inshuro nyinshi, umuforomo yakuyemo igisukika kibonerana kirimo selule (stem cells) zahinduriwe uturemangingo zigera kuri miliyoni 125, azishyira muri sirengi (urushinge).

Mu minota nk'icumi gusa, Olivier bari bamaze kumutera umuti wa mbere, bamwongera undi wa kabiri nyuma y'isaha.

Ubuvuzi agenewe uwo munsi ni aho bwarangiriye. Bisa n'aho byarangiye vuba, ariko urugendo ruracyari rurerure.

Nyuma y'iminsi ibiri, Oliver na Jingru basubira muri California. Ubu umuryango n'abaganga bagomba gutegereza ngo barebe niba ubuvuzi bw'uturemangingo bwakunze.

Ibimenyetso by'ibanze by'impinduka nziza – Gicurasi (5) mu 2025

Nyuma y'amezi atatu gusa, ni ukuvuga muri Gicurasi (5), Oliver yasubiye i Manchester gukora ibizamini by'igenzura byo kureba niba ubuvuzi bw'uturemangingo bwarakoze neza, aha yari aherekejwe n'umuryango we wose.

Oliver aragenda neza kandi arashishikaye kurusha uko twamubonaga mbere. Ni umwana ufite umudendezo wo gukina kandi afite ubuzima bwiza.

Se, Ricky, na we n'umunezero ati: "Ameze neza cyane. Twabonye impinduka nziza mu mvugo ye no mu kugenda. Mu mezi atatu gusa yarakuze."

Inkuru ikomeye ni uko Oliver yabashije guhagarika guterwa buri cyumweru 'enzyme' yaburaga.

Jingru ati: "Buri gihe mbwira abantu ko Oliver ari gukora enzyme ze bwite, mbivugana ikiniga kubera ko ari ibintu bitangaje."

Avuga ko uko ameze "bitandukanye cyane" ugereranyije na mbere y'ubuvuzi, ko avuga cyane kandi ko akina n'abandi bana.

Ricky ati: "Icyifuzo cyanjye ni uko Skyler yabona ubuvuzi nk'ubwa Oliver. Bisa nkaho Oliver yahawe ubuzima bushya, kandi ndifuza ko Skyler abibona n'ubwo ari mukuru."

Mu ntangiriro byari byatekerejwe ko Oliver ari mukuru cyane kuburyo atakwinjira mu igerageza, kuko ubuvuzi budashobora gusubiza inyuma ibyangiritse, ariko ibizamini byagaragaje ko akiri muzima.

Ricky asobanura ko Skyler afite gutinda mu mvugo no mu kugenda, ariko ari gukorerwa ubuvuzi bwa 'enzymes' mu mubiri, cyakora ngo ntizijya mu bwonko.

'Duhora dushimira iteka'

Oliver akomeje kugaruka i Manchester buri mezi atatu akahamara iminsi micye akorerwa ibizamini.

Mu mpera za Kanama (8) uyu mwaka, yafashwe ibindi bizamini na byo byemeza ko ubuvuzi bukora.

Oliver arakomeza kugaragaza ko ameze neza, kandi ubu hashize amezi icyenda avuwe.

Prof Jones, yishimye, yagize ati : "Mbere y'ubuvuzi, Ollie ntiyakoraga enzyme na gato, ariko ubu akora inshuro amagana kurusha ibisanzwe.

"Ikiruta byose, tubona ko ari gutera imbere, ariga, afite amagambo mashya, ubumenyi bushya kandi aragenda neza kurushaho."

Yongeyeho ati: "Tugomba kwitonda, ntitugire ibyishimo byinshi cyane, ariko ibintu biri kugenda neza uko twari twiteze ko bigomba kugenda."

Ricky ati: "Ni nk'undi mwana rwose. Ariruka hose, ntahagarara kuvuga..."

"Ejo hazaza ha Ollie hasa neza cyane kandi twizeye ko ibi bizafasha abandi bana kubona ubu buvuzi."

Muri rusange, abana batanu b'abahungu ni bo binjiye mu igerageza, baturuka muri Amerika, Uburayi na Australia.

Abana bose bazakurikiranwa nibura imyaka ibiri. Niba igerageza rikunze, ibitaro n'ishuri byizeye gukorana n'ikindi kigo gikora imiti kugira ngo uwo muti wemerwe.

Prof Jones avuga ko ubu buryo bw'ubuvuzi bw'uturemangingo burimo gukoreshwa no ku zindi ndwara z'uturemangingo.

Hari ubuvuzi bumeze nk'ubu burimo kugeragezwa i Manchester ku ndwara za MPS ya 1 (Hurler syndrome) na MPS ya 3 (Sanfilippo syndrome).

Ricky na Jingru bavuga ko bashimira iteka itsinda ry'i Manchester ryemeye ko Oliver yinjira mu igerageza.

Baratangazwa n'iterambere rye mu mezi ashize.

Oliver ubu akora 'enzyme' yaburaga kandi umubiri we n'ubwonko bwe ni bizima.

Ubuzima bwe ntibukirangwa n'imiti n'ingendo mu bitaro. Imvugo ye, kugenda no gutekereza byateye imbere cyane.

Si iterambere rito riza buhoro uko akura, ahubwo ryazamutse cyane kuva avuwe.

Igerageza ryari rigiye guhagarara

Abashakashatsi bo muri Kaminuza ya Manchester bayobowe na Prof Brian Bigger bamaze imyaka irenga 15 bakora kuri ubu buvuzi bw'ingirabuzima-fatizo (gene therapy) ku ndwara ya Hunter syndrome.

Mu mwaka wa 2020, iyo Kaminuza yatangaje ubufatanye n'ikigo gikora imiti cyo muri Amerika, cyitwa Avrobio, kugira ngo hakorwe igerageza ku bantu.

Nyuma y'imyaka itatu, icyo kigo cyasubije uruhushya iyo kaminuza, nyuma y'uko indi gahunda y'ubuvuzi bw'uturemangingo itari yagenze neza kandi n'amafaranga abuze.

Igerageza rya mbere ku bantu, ryagombaga gufasha Oliver, ryari rigiye guhagarara mbere y'uko ritangira.

Prof Jones ati: "Twagombaga kwihutira gushaka undi muterankunga n'indi soko y'amafaranga."

Ni bwo umuryango w'ubugiraneza ufasha ubushakashatsi mu buvuzi wo mu Bwongereza, witwa LifeArc, wagobotse, maze utanga miliyoni 2.5 z'amapawundi (arenga miliyari 4 FRW), igerageza ribona gukomeza.

Umuryango wa Chu urishimye ko igerageza ritahagaritswe kandi bizeye ko Skyler azabona ubu buvuzi nk'umuvandimwe we.

Ricky yavuze ko nta kintu na kimwe atakora ngo abana be babone ubuzima bwiza.

Amakuru y'inyongera yatawe na Nat Wright na Brijesh Patel