Ungase ukhathazeke kakhulu uma uthola ukuthi unesifo esingavamile sofuzo esibizwa ngokuthi i-hATTR amyloidosis. Empeleni yisifo esingavamile kakhulu. Abantu abangu-50,000 kuphela emhlabeni wonke abanalesi sifo. Kuvamile ukuzizwa wesaba futhi udidekile uma uzwa ngaso. Kalula nje, lesi sifo sibangelwa ukuguquka kwezakhi zofuzo ezibizwa ngokuthi i-TTR emzimbeni wethu. Ngenxa yalokho, uhlobo olungavamile lweprotheni ebizwa ngokuthi i-amyloids lufakwa ezithweni ezifana nenhliziyo yethu, izinso, isimiso sezinzwa, kanye nesistimu yokugaya ukudla. Khona-ke lezo zitho azikwazi ukusebenza kahle. Uma uya kobona udokotela okokuqala, uzokubuza imibuzo eminingi. Kubaluleke kakhulu ukulungiselela kusenesikhathi. Khona-ke wena nodokotela ningakhetha ukwelashwa okungcono kakhulu kuwe.
Ulungiselela kanjani ngaphambi kokuya kudokotela?
Kuhle ukunaka la maphuzu ngaphambi kokuya kudokotela.
Yazi umlando wezokwelapha womndeni wakho ngokunembile
I-haATTR amyloidosis yisifo esibangelwa izakhi zofuzo. Ngokwezokwelapha, yisimo "esilawulwa yi-autosomal". Lokhu kusho ukuthi uma omunye wabazali bakho ene-gene mutation ebangela lesi sifo, unethuba elingu-50% lokusizuza njengefa. Uma omunye wabazali bakho, umfowenu noma ingane yakho itholakale inalesi sifo, kubaluleke kakhulu ukuthola ukuhlolwa kwezakhi zofuzo, noma ngabe awunazo izimpawu.
Khumbula, ukuthi othile emndenini wakho unalesi sifo akusho ukuthi unethuba eliphelele lokusithola. Kodwa ukwazi ukuthi unaso yini isakhi sofuzo kungakusiza ukuthi uthole ukwelashwa .
Thatha yonke imibiko yokuhlolwa oyenzile.
Uma uke wahlolwa izakhi zofuzo ngaphambilini ukuze ubheke ukuguqulwa kwezakhi zofuzo ze-TTR, tshela udokotela wakho ngakho. Futhi, uma imiphumela yokuhlolwa kwakho iqinisekisa ukuthi unezakhi zofuzo, udokotela wakho uzoncoma ezinye izivivinyo. Lokhu kungenxa yokuthi isifo se-hATTR singathinta nezinye izitho zomzimba, njengenhliziyo, isibindi nezinso. Uma uke wahlolwa inhliziyo (echocardiogram) noma ukuhlolwa kwegazi muva nje, qiniseka ukuthi uletha yonke leyo mibiko.
Letha uhlu lwemithi oyiphuzayo.
Udokotela wakho uzofuna ukwazi ngayo yonke imithi oyithathayo. Lokhu akubandakanyi nje kuphela leyo enqunywe udokotela wakho, kodwa nanoma yimiphi imithi yokunciphisa ubuhlungu etholakala ngaphandle kwemithi kadokotela, amavithamini, kanye nezithasiselo ozithathayo.
Imibuzo udokotela angase akubuze yona
Ukulungela ukuphendula imibuzo yakho kuzosiza udokotela wakho ukuthi anqume ukwelashwa okungcono kakhulu kuwe. Kuzokunikeza nesikhathi sokubuza noma yimiphi imibuzo ongase ube nayo.
Nasi isifinyezo esifushane salokho udokotela angase akubuze kona.
| Indawo yokubuza imibuzo | Lokho ongakubuzwa nokuthi yini okufanele uyiqaphele |
|---|---|
| Umlando wezokwelapha womndeni | "Ingabe ukhona omunye emndenini wakho one-hATTR?" babuza. Mhlawumbe othile emndenini wakho uke waba nesifo senhliziyo, i-progressive neuropathy , i-carpal tunnel syndrome , noma izinkinga zamathumbu. Mhlawumbe wayene-hATTR kodwa wayengazi. Ngakho-ke wabelane ngalolu lwazi naye. |
| Ukuhlolwa kofuzo kanye nokuxilonga | "Uke wahlolwa izakhi zofuzo?" bayabuza. I-hATTR ingaba nzima ukuyixilonga ngoba ithinta izitho eziningi zomzimba. Udokotela wakho angase ancome ukuhlolwa okulandelayo: i-biopsy (ukuthatha ucezu lwezicubu ukuze luhlolwe), ukuhlolwa kwegazi, i-echocardiogram noma i-MRI yenhliziyo ukuhlola inhliziyo yakho, kanye nokuhlolwa kokuqhuba izinzwa ukuhlola ukusebenza kwezinzwa. |
| Izimpawu ezihlobene nenhliziyo | "Ingabe unezimpawu ezifana nokushaya kwenhliziyo, ukuphefumula kanzima, ubunzima bokuzivocavoca, noma ukuvuvukala emilenzeni yakho?" i-hATTR ingabangela ukuthi la maprotheni akheke enhliziyweni, okubangela ukuhlaselwa yinhliziyo, isifo senhliziyo, noma ukuqina kwemisipha yenhliziyo (hypertrophic cardiomyopathy) . Uma unalezi zimpawu, uzothunyelwa kudokotela wenhliziyo ngokushesha. |
| Izinkinga zokubona | "Ingabe kukhona izinguquko embonweni wakho, njengezinto ezintantayo?" Cishe u-20% wezinguquko zezakhi zofuzo ze-TTR zithinta amehlo. Noma yiziphi izinguquko embonweni kufanele zihlolwe udokotela wamehlo . |
| Izinkinga zokuhamba kanye nezinzwa | "Ingabe unenkinga yokuhamba?" Esinye sezimpawu zokuqala nezivame kakhulu zesifo se-haTTR ukulimala kwemizwa ezingalweni nasemilenzeni yakho (i-peripheral neuropathy) . Lokhu kungabangela izimpawu ezifana nobuhlungu, ukungazweli, nokuqaqamba. Uma lokhu kuthinta impilo yakho, kungadingeka ucabangele izinto ezifana nokwelashwa ngokomsebenzi . |
| Izinkinga zesimiso sezinzwa esizimele | "Ingabe ujuluka kakhulu, ushintshashintsha phakathi kohudo nokuqunjelwa, noma ubunzima bokulawula umchamo wakho?" Lezi yizinkinga zesimiso sezinzwa esizimele , esilawula izinto ezifana nokushaya kwenhliziyo yethu, umfutho wegazi, kanye nokugaya ukudla okungaphezu kwamandla ethu. Ukuba nalezi zimpawu kungaba uphawu lokuthi isimo sakho se-haATTR siya siba sibi kakhulu. |
Udokotela ukhuluma nangezindlela zokwelapha.
Ngemva kokuqinisekisa isimo sakho, udokotela uzoxoxa nawe ngezindlela zokwelapha.
Usuvele uwuthathile umuthi wakho?
Kunemithi eminingana evunyelwe njengamanje ukulawula i-hATTR futhi inciphise ukuqhubekela phambili kwayo. Izibonelo zifaka phakathi i- 'Eplontersen (Wainua)', i-'inotersen (Tegsedi)', i-'patisiran (Onpattro)', i-'vutrisiran (Amvuttra)', i-'tafamidis (Vyndamax)', kanye ne-'tafamidis meglumine (Vyndaqel)'. Kubalulekile ukutshela udokotela wakho uma uke wasebenzisa noma yimuphi wale mithi ngaphambili, kungakhathaliseki ukuthi ikusizile, noma ngabe ibangele noma yimiphi imiphumela emibi.
Ucabangani ngokufakelwa isibindi?
Kwaphela amashumi eminyaka, ukwelashwa okungcono kakhulu kwe-hATTR kwakuwukufakelwa isibindi. Kodwa kuza nengozi enkulu yezinkinga, ikakhulukazi izinkinga zenhliziyo. Ucwaningo olusha lubonisa ukuthi eminye imithi emisha ingase isebenze kahle njengokufakelwa isibindi. Ngakho-ke ungakhuluma nodokotela wakho ngezinzuzo kanye nokubi kwalokhu kuhlinzwa kanye nezinye izindlela zokwelapha.
Ungathanda yini ukuhlanganyela esivivinyweni somtholampilo?
Odokotela bahlala befuna izindlela ezingcono zokunakekela iziguli ze-hATTR. Enye indlela yokwenza lokhu iwukusebenzisa izivivinyo zemitholampilo. Yonke imithi evunyelwe namuhla ihlolwe ngale ndlela. Leli yithuba elihle lokuthola ukwelashwa okusha ngaphambi kokuba kutholakale emphakathini. Kodwa kunezingozi ezithile. Ungabuza udokotela wakho ngalokhu futhi.
Umlayezo Wokuya Nawe Ekhaya
- I-hATTR amyloidosis iyisifo esingavamile, esizuzwa njengefa. Kuvamile ukuzizwa ukhathazekile uma ufunda ngaso.
- Uma uya kudokotela, letha umlando wezokwelapha womndeni wakho, imiphumela yokuhlolwa oye wayithola, kanye nohlu lwemithi oyiphuzayo.
- Tshela udokotela wakho ngezimpawu zakho (ubuhlungu besifuba, ubunzima bokuphefumula, ukungazweli ezithweni zakho, izinguquko ekuboneni kwakho) ngaphandle kokufihla lutho.
- Khuluma nodokotela wakho ngokukhululekile mayelana nezinketho zokwelapha (imithi, ukuhlinzwa, ucwaningo lwezokwelapha) bese ubuza yonke imibuzo onayo.
- Ngokuhlonza lesi sifo ngendlela efanele nokuthola ukwelashwa okufanele, ungaphila ngempumelelo nalesi sifo.
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