Ukubhekana Ne-Marfan’s Syndrome—Lapho Amalunga Ekhumuka

NGUMLOBELI WE-PHAPHAMA! EBRITHANI

“Ngiphuza i-morphine kabili ngosuku, engena kancane kancane emzimbeni. Iyangisiza, kodwa lapho sengiqaqanjelwa yizinhlungu, ngishintshela kuyi-morphine ewuketshezi.” UMichelle, owesifazane onezinwele ezimhloshana oseqinile nje, wayemomotheka njengoba ekhuluma. Eceleni kwakhe, umyeni wakhe, uPhilip wayenqekuzisa ikhanda evuma.

UMICHELLE waqhubeka: “Uma isimo sesisibi, ukunyakaza nje kuba buhlungu ngoba amalunga ayakhumuka. Ngakho lapho izinzwa zinwebeka ngenxa yalokho, ngizwa ubuhlungu obuyisimanga.” Sekungamashumi eminyaka uMichelle ebekezelele ukugula. Uphethwe i-Marfan’s syndrome.

Sifo sini lesi? Ingabe siyelapheka? Ngazimisela ukuthola.

Isifo Esibi

Ngathola ukuthi lesi sifo siqanjwe ngo-Antonin Marfan, isazi sezifo zezingane saseFrance. Ngo-1896, nguye owachaza lesi sifo esaqanjwa ngegama lakhe. Nakuba lesi sifo singavamile—kulinganiselwa ukuthi siphethe umuntu oyedwa kwabangu-10 000—sihlasela abantu bazo zonke izizinda nezinhlanga.

Lesi yisifo sofuzo. Njengoba isakhi sofuzo esiyimbangela yalesi sifo sinamandla, singadluliselwa ezinganeni ngisho noma kungumzali oyedwa kuphela onaso. Ngenxa yalokho lesi sifo sivame ukuba khona emikhayeni izizukulwane ngezizukulwane. Okwamanje alikabi bikho ikhambi, ngisho noma sisheshe satholakala.

UMichelle mude futhi mncane, unezingalo ezinde, izandla nezinyawo ezincane, neminwe nezinzwane ezinde. Lokhu kungase kube uphawu lwe-Marfan’s syndrome. Abantu abaningi abanalesi sifo ngeke babe nazo zonke izimpawu nobunzima obuhambisana naso, kodwa uma sekutholakale uphawu olulodwa, odokotela bafuna nezinye ngokuhlakanipha. Ziyini ezinye zazo?

Izimpawu Zomzimba Ongase Uzibheke

Isici esivamile se-Marfan’s syndrome yi-myopia—ukubona eduze. Cishe ezigulini ezingamaphesenti angu-50 i-lens yehlo iyakhumuka. Ngaphezu kwalokho, kungase kuthinteke ne-valve yomthambo i-aorta. Le valve yenza ukuba igazi elikuyi-aorta—umthambo wegazi omkhulu kunayo yonke emzimbeni—lingavuzi liphindele emuva enhliziyweni.

Odokotela bavame ukugcizelela ukuthi abantu abaphethwe i-Marfan’s syndrome akufanele benze umsebenzi odinga ukuzikhandla ngamandla. Yize eyedwa kuphela kwabayishumi onalesi sifo ongase aphathwe yisifo senhliziyo, lesi sifo sibangela ubuthakathaka ngakho umuntu kufanele aqaphe. Uma i-aorta iqhuma, ngokuvamile umuntu uyafa noma kanjani. UFlo Hyman, owesifazane ongamamitha angu-1,95 ubude owayedlala i-volleyball kuma-Olympic eqenjini lase-United States, wafa eneminyaka engu-31 ubudala phakathi nomdlalo eJapane ngo-1986 ngenxa ye-Marfan’s syndrome.

Labo abaphethwe i-Marfan’s syndrome bangase babe nesifuba esime ngendlela engavamile kanye nomgogodla ogobile. Ezimweni ezimbi kakhulu, baba nezinkinga zomhlathi ongenhla nolwanga. Uma lesi sifo sitholakale umuntu eseyingane, kudingeka aqashelwe ngokucophelela, elashwe ngokomzimba futhi mhlawumbe ahlinzwe. Ezinye iziguli ziba nenkinga yokukhumuka kwamalunga, njengoMichelle. Kubangwa yini lokhu?

Indima Ye-fibrillin

Ngo-1986, ososayensi bathola iprotheni ebizwa ngokuthi i-fibrillin. Le protheni iyisici esibalulekile sezicubu zezinzwa futhi kubonakala sengathi izenza ziqine futhi zinwebeke. Ngo-1991 kwatholakala ukuthi isakhi sofuzo esinephutha, esikuyi-chromosome 15 kumuntu, yiso esiyimbangela ye-Marfan’s syndrome. Ngokuvamile lesi sakhi sofuzo sitshela umzimba ukuba ukhiqize i-fibrillin, kodwa kubonakala sengathi uma i-fibrillin incane noma inephutha, izicubu zinwebeka ngendlela engavamile ngoba azikwazi ukumelana nomfutho ovamile. Yingakho ezinye iziguli eziphethwe i-Marfan’s syndrome zinenkinga yamaphaphu. Kudingeka izicubu zezinzwa eziqinile ukuze izikhwama zamangqamuzana omoya emaphashini ziqine futhi zinwebeke.

Kodwa lokhu akusho ukuthi labo abane-Marfan’s syndrome ngokuzenzakalelayo bangase bangenwe kalula isifuba somoya, ukucinana kwemigudu yokuphefumula, noma ngisho ne-emphysema. Nokho, ngezinye izikhathi amaphaphu avele ahluleke, futhi uma kwenzeka lokho, kubalulekile ukuba bathole ukunakekelwa kwezokwelapha ngokushesha. UMichelle wangitshela ukuthi kufanele aqaphe isimo esinjalo esiphuthumayo esithinta amaphaphu akhe, ngoba asethinteke kabi kakhulu.

Manje ngase nginesithakazelo sokwazi ukuthi uMichelle ubhekana kanjani nezingcindezi zokuphila kwansuku zonke.

Wafunda Ukubhekana Nezimo

“Lapho ngineminyaka engu-15 ubudala, ngezwa ubuhlungu emzimbeni wonke ngenxa yalokho kamuva okwatholakala ukuthi i-Marfan’s syndrome,” kuchaza uMichelle. “Manje umkhaya wakithi uyazibuza ukuthi ubaba wayenaso yini lesi sifo. Iminyaka eminingi wayenesifo sokuqaqamba kwamalunga, futhi lokho kufihla noma yibuphi ubufakazi be-Marfan’s syndrome. Indodana yethu, uJavan, manje eneminyaka engu-24 ubudala, inaso lesi sifo, kodwa akwaziwa ukuthi siyoba njani kuyo.

“Eminyakeni yamuva bengiphuza ama-steroid, abengisiza kakhulu, kodwa lapho kudingeka ngiwayeke, izinhlungu zeza ngamandla.a Amahlombe ami ayakhumuka ngokwengxenye, kanjalo nezandla, amadolo, izihlakala namaqakala. Uma lokhu kwenzeka ebusuku lapho ngiphenduka embhedeni, ngivuka ngiklabalasa. Kodwa uPhilip akeve engumyeni osekelayo! Ngezinye izikhathi uhlala nami ubusuku bonke, futhi uyangiduduza kakhulu, ethandazela ukuba sobabili sithole amandla.

“Ngisawenza umsebenzi wasendlini engikwazi ukuwenza, nakuba ukuya esitezi esiphezulu kunzima ngoba kudingeka ngisebenzise isihlalo esinomshini osehlisa usenyuse (chair lift). Kodwa uPhilip noJavan bangisiza kakhulu. Uma isimo sisibi, nginamabhande anensimbi engiboshwa ngawo ezandleni. Amanye ngiboshwa ngawo ezinyaweni ukuze aqinise amaqakala. Kodwa la mabhande ayangikhathaza futhi ayisithiyo. Ngaphezu kwalokho, uma ngiwabopha isikhathi eside, angikwazi ukuvivinya umzimba—futhi lokho kuyangilimaza.”

“Kumelwe ukuba uyacindezeleka ngezinye izikhathi,” ngisho.

“Yebo,” kuvuma uMichelle. “Kulula ukucindezeleka uma uhlale unezinhlungu futhi unezinkinga zenhliziyo. Ngakho ngithandazela abafowethu nodadewethu bakwamanye amazwe okungenzeka baphethwe yilesi sifo. Ngibonga kakhulu ngokuba nomkhaya ongisekelayo nokunakekela kukadokotela onesihe neqembu lakhe.

“Ngezinye izikhathi kudingeka ngihlale embhedeni noma ngingasathandi, futhi ukuhlala nje ekhaya kungase kwenze isimo sibe sibi nakakhulu. Ngenxa yalesi sizathu, ngemva kokubonisana noPhilip, eminyakeni engu-11 edlule nganquma ukubhalisa njengephayona elivamile, umshumayeli wesikhathi esigcwele. Nakuba isimo sami siye sawohloka kakhulu kusukela ngaleso sikhathi, ngenza engingase ngikwazi ukukwenza, futhi uPhilip uvame ukuhamba nami enkonzweni yendlu ngendlu. Kodwa ngiyafakaza ngokwethukela nakwabanye, ngocingo nangokubhala izincwadi.

“Ukuhlanganyela amaqiniso eBhayibheli nomakhelwane bami kuyangijabulisa kakhulu, ikakhulukazi uma ngibona abanye beba izinceku zikaJehova ezibhapathiziwe. Ukukhuluma nje ngezwe elisha likaJehova uNkulunkulu, okuyobe kungasekho kulo izinhlungu nokugula—ngisho nokufa—kungijabulisa kunanoma yini enye. Njengoba ngihamba, ngikhuluma buthule noJehova, futhi ngizwa amandla omoya wakhe ongcwele, ongisiza ukuba ngikhuthazelele izinhlungu. Ngiyakutshela, awekho amandla anjengalawo emhlabeni!”

UMichelle wachaza ukuthi uye wathola induduzo ngokukhethekile ngokufunda iBhayibheli. Wathi imibhalo eye yamduduza ngokukhethekile iHubo 73:28; 2 Korinte 4:7; Filipi 4:13; nesAmbulo 21:3, 4. Ngemva kokuhlaziya le mibhalo yeBhayibheli ngokwami, nginomuzwa wokuthi ingaba isikhuthazo ngempela kunoma ubani ocindezelekile.

[Umbhalo waphansi]

[Ibhokisi/Izithombe ekhasini 12]

Ubufakazi Obungokomlando?

Odokotela baye bathola izifo ezingaba ngu-200 zezicubu zezinzwa. Nakuba izifo ezinjalo ziye zavela eminyakeni yamuva nje, ososayensi nezazi-mlando baye bahlola izici ezingokomzimba zabantu abadumile bakudala abakholelwa ukuthi kungenzeka babene-Marfan’s syndrome noma isifo esihlobene nayo.

Kucatshangwa ukuthi umdlali we-violin omude nomncane ngomzimba uNiccolò Paganini, owaphila kusukela ngo-1782 kuya ku-1840, wayenayo. Amakhono akhe ayamangaza kakhulu kangangokuthi abanye babethi wayedayisele uDeveli umphefumulo wakhe ukuze awathole. Udokotela kaPaganini, uDkt. Francesco Bennati, waphawula: “Isandla sakhe singesivamile nje, kodwa ngenxa yokunwebeka kwawo wonke amalunga aso, singavuleka ngokuphindwe kabili kunesivamile. Ngokwesibonelo, lokhu kungamenza agobe amalunga aphezulu eminwe yesobunxele atshekele eceleni kalula nje futhi ngokushesha—ngaphandle kokushintsha ukuma kwesandla.”

Uma behlehlela emuva nakakhulu, abacwaningi bahlatshwa umxhwele nawuFaro waseGibithe u-Akhenaton, umyeni kaNefertiti. Uvezwa njengendoda enobuso obuncane nentamo ende, izingalo, izandla nezinyawo. Uhlanga lwamakhosi akubo lwasheshe lwafa, okuyisimo sabantu basendulo ababephethwe i-Marfan’s syndrome.

[Imithombo]

From the book Great Men and Famous Women

Ägyptisches Museum der Staatlichen Museen Preußischer Kulturbesitz, Berlin

[Isithombe ekhasini 13]

UPhilip uvame ukuhamba noMichelle enkonzweni yendlu ngendlu