Kutheni ndenze uvavanyo lweMfuzo kuMhlaza weSifuba

Umxholo

• Uphengululo lwe

"Iziphumo zakho zilungile."

Ngaphandle kwamagama oyikisayo, i-imeyile eyilwe kakuhle ijongeka ngathi iyonwabisa. Akubalulekanga.

Kodwa imalunga nokundixelela ukuba ndingumphathi we-BRCA1 okanye i-BRAC2 uguquko, oluza kuqhuba umngcipheko wam wokuba nomhlaza webele kunye nowesibeleko ngophahla. Imalunga nokundixelela ukuba kuya kufuneka ndijonge ukubanakho kuthintelo lwe-mastectomy ephindwe kabini ebusweni ngenye imini. Ngokwenyani, imalunga nokundixelela ukuba izigqibo zam zezempilo ziya kujongeka kanjani ukusukela ngalo mzuzu.

Asikokuqala kwam ukudibana nomhlaza wamabele. Ndinembali yosapho lwesi sifo, ngoko ke ukwazisa kunye nemfundo ibe yinxalenye enkulu yobomi bam bomntu omdala. (Nantsi eyona nto isebenza ngokuNciphisa umngcipheko womhlaza wamabele.) Okwangoku, ngeli xesha inyanga yokuLumkisa ngomhlaza wamabele isondela esiphelweni ngo-Okthobha ngamnye, bendiye ndifikelele umda wam weeribhoni ezipinki kunye ne-fundraiser 5Ks. Malunga netekhnoloji yokujonga iintlobo ze-BRCA? Ndandisazi ukuba ikhona, kodwa ndandingaqinisekanga ukuba ndenze ntoni ngayo.

Emva koko ndeva malunga neMibala yeGenomics, inkampani yovavanyo lwemfuza evavanya isampulu yamathe kuguquko kwiijeni ezili-19 (kubandakanya i-BRCA1 kunye ne-BRCA2). Yayilukhetho olulula kakhulu, ndandisazi ukuba yayilixesha lokuba ndiyeke ukuwuphepha umcimbi kwaye ndiqale ukwenza izigqibo ezixhotyisiweyo ngempilo yam. Ndithathela ingqalelo into engena emzimbeni wam (funda: maxa wambi ukoyikeka kwisilayidi sesibini sepitsa), kutheni le nto ndinganikeli ingqalelo kwinto esele iqhubeka ngaphakathi umzimba wam?

Ngokuqinisekileyo andingomntu wokuqala ukucinga ngale nto. Baninzi abantu basetyhini abathatha isigqibo sokuba babe novavanyo oloyikisayo. Kwaye u-Angelina Jolie Pitt ukhanyise ngokungathandekiyo kwisifundo esimnyama kwiminyaka emibini eyadlulayo xa wayevavanya ukuba uguqukile kwi-BRCA1 kwaye waxoxa esidlangalaleni ngesigqibo sakhe sokuthintela i-mastectomy ephindwe kabini.

Incoko iqale ngoku. Owasetyhini oqhelekileyo unomngcipheko we-12 ekhulwini wokuba nomhlaza wamabele kunye nethuba elinye ukuya kwisibini ekhulwini lokufumana umhlaza wesibeleko ngexesha lobomi bakhe. Kodwa abafazi abaphethe i-mutation ye-BRCA1 gene bajonge kwi-81 yepesenti ithuba lokuba baya kuba nomhlaza webele ngexesha elithile, kunye neepesenti ze-54 amathuba okuba nomhlaza we-ovarian.

"Enye yezinto etshintshe ngokwenene kule minyaka imbalwa idlulileyo kukuba iindleko zokulandelelana kwemfuza zehle kakhulu," utshilo uOthman Laraki, umseki-mbala weColor Genomics. Oko kwakuluvavanyo lwegazi olubizayo ngoku kuye kwaba luvavanyo olukhawulezayo lokutshica malunga neshumi leendleko. "Endaweni yeendleko zeelebhu ezibiza kakhulu, eyona nto iphambili ibhloko kukukwazi ukuqonda nokwenza ulwazi," utshilo.

Nantso into eyenziwa nguMbala kakhulu-sithetha ngaphezulu kweepesenti ezingama-99 zovavanyo kunye neziphumo eziphambeneyo ekulula ukuziqonda. Ngoluhlu lweenjineli ezivela kwiinkampani zobuchwephesha eziphezulu (ezinje ngeGoogle kunye neTwitter), inkampani yenza ukuqonda iziphumo zakho kungoyiki kangako-kwaye kufana noku-odola isidlo sasemini kwiSeamless.

Emva kokucela i-spit kit kwi-intanethi (i-$ 249; getcolor.com), Umbala uhambisa yonke into oyifunayo ukuyithumela kwisampuli (ngokusisiseko, ityhubhu yokuvavanya otshica kuyo). Yonke le nkqubo ithatha malunga nemizuzu emihlanu kwaye ikiti iza nebhokisi ehlawulwa kwangaphambili ukuthumela isampulu yakho ngqo kwilebhu. Ngelixa i-DNA yakho isendleleni eya kwizibonelelo zabo zovavanyo, Umbala ukubuza ukuba uphendule imibuzo embalwa malunga nembali yosapho lwakho kwi-intanethi, enceda oososayensi baqonde ngcono ukuba ufuzo ludlala njani kumngcipheko wakho wemfuza. Iipesenti ezilishumi ukuya kwezili-15 zomhlaza zinento yelifa, oko kuthetha ukuba umngcipheko unxulunyaniswe notshintsho oluthile kusapho lwakho. Kwimizila yemfuza eyi-19 eboniswa nguMbala, umntu omnye ukuya kwababini kwabayi-100 bavavanya ukuba banayo inguquko enye okanye ngaphezulu, ngokukaLaraki. (Fumana ukuba kutheni uMhlaza wamabele usanda.)

Sonke sithwala uguquko-ezo zinto zisenza sibe ngabantu ngabanye. Kodwa ezinye iinguqulelo zibeka emngciphekweni wempilo onokuthi ngokuqinisekileyo ufune ukwazi malunga nawo-enyanisweni, zonke i-19 zemfuza Umbala wokuvavanywa okunxulunyaniswa nomngcipheko webele kunye nomhlaza womhlaza, kunye nezinye iintlobo zomhlaza kunye nezifo ezisongela ubomi).

NgokukaLaraki, konke malunga nokuzixhobisa ngolwazi. Ukuba uthwala utshintsho oluyingozi, ukubamba umhlaza webele kwangoko xa kuthelekiswa kade kunefuthe elikhulu kumaqondo okusinda. Ngokwe-American Cancer Society, sithetha ngepesenti eyi-100 ukuba uyayibamba kwinqanaba I ngokuchasene neepesenti ezingama-22 kuphela ukuba awuyifumani de kube kwinqanaba IV. Esi sisibonelelo esibi sokwazi umngcipheko wakho ngaphambi kwexesha.

Emva kweeveki ezimbalwa kwilebhu, Umbala uthumela iziphumo zakho kwi-imeyile efana nale ndiyifumeneyo. Ngokusebenzisa i-portal yabo esebenziseka lula, unokubona ukuba loluphi uhlobo, ukuba lukhona, olunokutshintsha kwaye oko kunokuthetha ntoni kwimpilo yakho. Uvavanyo ngalunye lubandakanya ukubonisana nomcebisi ngemfuzo, oza kukuhambisa kwiziphumo zakho aphendule nayiphi na imibuzo. Ukuba uyabuza, uMbala uza kuthumela iziphumo zakho kugqirha wakho ukuze usebenze naye ukwenza isicwangciso.

Ke mna? Ukugqibela kwam, ndicofa eli qhosha loyikekayo "Jonga Iziphumo", ndothuswa kukufumanisa ukuba andiphathanga naluphi na utshintsho oluyingozi kwimfuza ye-BRCA okanye ngenye indlela. Cinga ukukhululeka okukhulu kwesiqabu. Ukujonga imbali yosapho lwam, bendikulungele okuchasene (kakhulu kangangokuba andixelelanga zitshomi okanye usapho ukuba ndiyavavanywa de kube semva kokuba ndifumene iziphumo zam). Ukuba bebenethemba, bendifuna ixesha lokufumana ulwazi oluninzi kwaye ndithethe nogqirha wam malunga neyona ndlela ilungileyo yokucwangcisa phambi kokuxoxa ngesigqibo.

Ngaba oku kuthetha ukuba ngekhe ndikhathazeke ngomhlaza wamabele? Akunjalongo noko. Njengoninzi lwabasetyhini, ndisenomngcipheko we-12 pesenti yokuphuhlisa isifo ngaxa lithile. Ngaba oku kuthetha ukuba ndinokuphumla kancinci? Ngokuqinisekileyo. Ekugqibeleni, nokuba mkhulu kangakanani umngcipheko wam, ndifuna ukulungela ukwenza izigqibo ngempilo entle, kwaye emva kokuvavanywa, ndiziva ndikulungele ukwenza oko. (Qiniseka ukuba uyazi malunga noHlaziyo loMbutho woMhlaza waseMelika kwizikhokelo zovavanyo lomhlaza wamabele.)

Uphengululo lwe