Usenokuba nexhala kakhulu xa ufumanisa ukuba unesifo esingaqhelekanga semfuza esibizwa ngokuba yi-hATTR amyloidosis. Enyanisweni sisifo esingaqhelekanga kakhulu. Bangama-50,000 kuphela abantu kwihlabathi liphela abanaso esi sifo. Kuqhelekile ukuba uzive usoyika kwaye udidekile xa usiva ngaso. Ngamafutshane, esi sifo sibangelwa kukuguquka kwejini ebizwa ngokuba yi-TTR emzimbeni wethu. Ngenxa yoko, uhlobo olungaqhelekanga lweproteni ebizwa ngokuba yi-amyloids lufakwa kwizitho ezifana nentliziyo yethu, izintso, inkqubo yemithambo-luvo, kunye nenkqubo yesisu. Emva koko ezo zitho azikwazi ukusebenza kakuhle. Xa usiya kumbona ugqirha okokuqala, uya kukubuza imibuzo emininzi. Kubaluleke kakhulu ukulungiselela kwangaphambili. Emva koko wena nogqirha ninokukhetha unyango olulungele wena.
Ulungiselela njani ngaphambi kokuba uye kugqirha?
Kufanelekile ukuqaphela la manqaku ngaphambi kokuba uye kugqirha.
Yazi imbali yezonyango yosapho lwakho ngokuchanekileyo
I-haATTR amyloidosis sisifo semfuza. Ngokwezonyango, sisifo "esibizwa ngokuba yi-autosomal dominant". Oku kuthetha ukuba ukuba omnye wabazali bakho une-gene mutation ebangela esi sifo, unethuba elingama-50% lokusifumana njengelifa. Ukuba omnye wabazali bakho, umntakwenu, okanye umntwana ufunyaniswe enale sifo, kubaluleke kakhulu ukuba kwenziwe uvavanyo lwemfuza, nokuba awunazo iimpawu.
Khumbula, ukuba umntu kusapho lwakho unesi sifo akuthethi ukuba unethuba eliyi-100% lokufumana esi sifo. Kodwa ukwazi ukuba unayo na i-gene kunokukunceda ufumane unyango .
Thatha zonke iingxelo zovavanyo ozenzileyo.
Ukuba ukhe wavavanywa ngemfuza ngaphambili ukuze ujonge utshintsho lwemfuza lwe-TTR, xelela ugqirha wakho ngayo loo nto. Kwakhona, ukuba iziphumo zovavanyo lwakho ziqinisekisa ukuba unayo imfuza, ugqirha wakho uza kucebisa ezinye iimvavanyo. Oku kungenxa yokuba isifo se-hATTR sinokuchaphazela nezinye izitho zomzimba, njengentliziyo, isibindi, kunye nezintso. Ukuba usandul' ukwenza uvavanyo lwentliziyo (echocardiogram) okanye uvavanyo lwegazi, qiniseka ukuba uzisa zonke ezo ngxelo.
Zisa uluhlu lwamayeza owasebenzisayo.
Ugqirha wakho uya kufuna ukwazi ngazo zonke amayeza owaselayo. Oku akubandakanyi nje kuphela lawo amiselwe ngugqirha wakho, kodwa nazo naziphi na izithomalalisi zentlungu ezithengiswa ngaphandle kwemvume kagqirha, iivithamini, kunye nezongezo ozisebenzisayo.
Imibuzo enokubuzwa ngugqirha
Ukulungela ukuphendula imibuzo yakho kuya kunceda ugqirha wakho ukuba akhethe unyango olulungele wena. Kuya kukunika nexesha lokubuza nayiphi na imibuzo onokuba nayo.
Nantsi ingcaciso emfutshane yoko ugqirha angakubuza kona.
| Indawo yokubuza imibuzo | Oko unokubuzwa kona kunye noko kufuneka ukwazi |
|---|---|
| Imbali yezonyango yosapho | "Ngaba kukho omnye umntu kusapho lwakho one-haTTR?" babuza. Mhlawumbi kukho umntu kusapho lwakho oye waba nesifo sentliziyo, i-progressive neuropathy , i-carpal tunnel syndrome , okanye iingxaki zamathumbu. Mhlawumbi wayene-haTTR kodwa wayengazi. Ngoko ke yabelana nabo ngolu lwazi. |
| Uvavanyo lwe-genetic kunye novavanyo lokuxilonga | "Ngaba ukhe wavavanywa ngokwemfuza?" bayabuza. I-hATTR inokuba nzima ukuyixilonga kuba ichaphazela amalungu amaninzi omzimba. Ugqirha wakho unokucebisa olu vavanyo lulandelayo: i-biopsy (ukuthatha isiqwenga sethishu ukuze ivavanywe), uvavanyo lwegazi, i-echocardiogram okanye i-MRI yentliziyo ukujonga intliziyo yakho, kunye novavanyo lokuqhuba imithambo-luvo ukujonga ukusebenza kwemithambo-luvo. |
| Iimpawu ezinxulumene nentliziyo | "Ngaba uneempawu ezinje ngokubetheka kwentliziyo, ukuphefumla kancinci, ubunzima bokuzilolonga, okanye ukudumba kwemilenze yakho?" i-hATTR inokubangela ukuba ezi proteni ziqokeleleke entliziyweni, zibangele ukuhlaselwa yintliziyo, isifo sentliziyo, okanye ukutyeba kwemisipha yentliziyo (hypertrophic cardiomyopathy) . Ukuba unale mpawu, uya kuthunyelwa kwingcali yentliziyo ngoko nangoko. |
| Iingxaki zokubona | "Ngaba kukho naluphi na utshintsho olukhoyo embonweni wakho, olufana nee-floaters?" Malunga ne-20% ye-TTR gene mutations ichaphazela amehlo. Naluphi na utshintsho olubonakalayo kufuneka luhlolwe yingcali yamehlo . |
| Iingxaki zokuhamba kunye nemithambo-luvo | "Ngaba unengxaki yokuhamba?" Enye yeempawu zokuqala neziqhelekileyo zesifo se-haTTR kukonakala kwemithambo-luvo engalweni nasemilenzeni yakho (peripheral neuropathy) . Oku kunokubangela iimpawu ezifana nentlungu, ukungaziva, kunye nokurhawuzelela. Ukuba ezi zinto zichaphazela ubomi bakho, kunokufuneka ucinge ngezinto ezifana nonyango lomsebenzi . |
| Iingxaki zenkqubo ye-nervous ezizimeleyo | "Ngaba ubila kakhulu, utshintshana phakathi korhudo nokuqhina, okanye kunzima ukulawula umchamo wakho?" Ezi ziingxaki zenkqubo yemithambo-luvo elawula izinto ezifana nokubetha kwentliziyo, uxinzelelo lwegazi, kunye nokugaya ukutya okungekho sikweni. Ukuba nezi mpawu kunokuba luphawu lokuba imeko yakho ye-hATTR iya isiba mandundu. |
Ugqirha ukwathetha ngeendlela zonyango.
Emva kokuqinisekisa imeko yakho, ugqirha uza kuxoxa nawe ngeendlela zonyango.
Ngaba sele ulithathile iyeza lakho?
Kukho amayeza aliqela avunyiweyo okwangoku ukulawula i-hATTR kunye nokucothisa ukuqhubela phambili kwayo. Imizekelo ibandakanya i- 'Eplontersen (Wainua)`, i-`inotersen (Tegsedi)`, i-`patisiran (Onpattro)`, i-`vutrisiran (Amvuttra)`, i-`tafamidis (Vyndamax)`, kunye ne-`tafamidis meglumine (Vyndaqel)`. Kubalulekile ukuxelela ugqirha wakho ukuba ukhe wasebenzisa naliphi na kula mayeza ngaphambili, nokuba akuncedile, okanye ukuba abangele naziphi na iziphumo ebezingalindelekanga.
Ucinga ntoni ngokufakelwa isibindi?
Kangangamashumi eminyaka, unyango olungcono lwe-hATTR yayikukufakelwa isibindi. Kodwa luza nomngcipheko omkhulu weengxaki, ingakumbi iingxaki zentliziyo. Uphando olutsha lubonisa ukuba amanye amayeza amatsha anokuba luncedo njengokufakelwa isibindi. Ngoko ungathetha nogqirha wakho malunga neengenelo kunye neengxaki zolu tyando kunye nolunye unyango.
Ungathanda ukuthatha inxaxheba kuvavanyo lweklinikhi?
Oogqirha bahlala bekhangela iindlela ezingcono zokunyamekela izigulane ze-hATTR. Enye indlela yokwenza oku kukusebenzisa iimvavanyo zeklinikhi. Lonke iyeza elivunyiweyo namhlanje livavanyiwe ngale ndlela. Eli lithuba elihle lokufumana unyango olutsha ngaphambi kokuba lufumaneke kuluntu ngokubanzi. Kodwa kukho iingozi ezithile. Ungabuza ugqirha wakho ngale nto.
Umyalezo Wokuya Ekhaya
- I-hATTR amyloidosis sisifo esingaqhelekanga, esizuzwa njengelifa. Kuqhelekile ukuba uzive uxhalabile xa ufunda ngaso.
- Xa usiya kugqirha, yiza nembali yempilo yosapho lwakho, iziphumo zovavanyo oye wazifumana, kunye noluhlu lwamayeza owasebenzisayo.
- Xelela ugqirha wakho ngeempawu zakho (iintlungu zesifuba, ubunzima bokuphefumla, ukungaziva mnandi kwamalungu akho, utshintsho ekuboneni kwakho) ngaphandle kokufihla nantoni na.
- Thetha ngokukhululekileyo nogqirha wakho malunga neendlela zonyango (amayeza, utyando, uphando lwezonyango) kwaye ubuze yonke imibuzo onayo.
- Ngokuxilonga isifo ngokuchanekileyo nokufumana unyango olufanelekileyo, unokuphila ngempumelelo nesi sifo.
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