Riaan U-Alyssa Nash, 27, wase I-Northern Iowa, ungowesifazane osemusha onempilo, nonomdlandla onokumomotheka okukhanyayo nothando olujulile ngomkhaya wakhe. Uthanda izinto zobumba, ukudweba nokusebenza njengomamukeli wezivakashi esibhedlela sendawo.
Kepha ngaphansi kwengaphandle lakhe elijabulisayo, uNash unovalo oluthulile lokuphenduka umuntu angasamboni.
Eminyakeni eyisikhombisa edlule, lapho eneminyaka engu-20 nje kuphela, uNash wafunda ukuthi ungumthwali woguquko lofuzo olungabangela i-FTD (ukuwohloka komqondo okungaphambili kwe-frontotemporal), isifo se-neurodeergenerative esiqala ekuqaleni esivame ukuba nomthelela kubantu kusukela eminyakeni engama-30, 40s kanye nama-50s.
IYINI I-FRONTOTEMPORAL DEMENTIA, UKUHLOLA AUTHOLWE U-BRUCE WILLIS?
I-FTD imakwa ngokuwohloka kwamalobe angaphambili kanye/noma esikhashana obuchopho, ngokusho kwe-Association for Frontotemporal Degeneration (AFTD).
Okujwayelekile okuncane kakhulu kunalokho Isifo i-Alzheimer’sI-FTD okwamanje ithinta abantu abangaba ngu-60,000 e-US
U-Alyssa Nash, 27, wase-Iowa uboniswe lapha (owesibili ukusuka kwesobunxele) nomama wakhe, uyise kanye nomfowabo. (Kathie Blake Photography/Alyssa Nash)
Izimpawu zingaqala kusukela eminyakeni engu-21 ubudala, kodwa izimo eziningi zenzeka phakathi kweminyaka engu-45 no-64, ngokwe-AFTD.
Izimpawu ezivamile zalesi sifo zihlanganisa izinguquko zobuntu, ubunzima bokukhuluma nokuqonda ulimi, inkinga ngokuthatha izinqumo kanye nokuntuleka kozwela.
UDkt. Tiffany Chow, udokotela wezinzwa kanye nephini likamongameli wezokuthuthukiswa komtholampilo enkampanini ye-biotechnology i-Alector phakathi INingizimu San FranciscoeCaliforniauchwepheshe kulolu hlobo lokuwohloka komqondo.
“Ngokungafani nesifo i-Alzheimer’s, i-FTD idala ushintsho olukhulu.”
“I-FTD ingesinye sezifo ezithakazelisa kakhulu ze-neurodegenerative ngoba empeleni zithinta ubuntu bakho,” etshela iFox News Digital engxoxweni.
“Ngokungafani nesifo i-Alzheimer’s, i-FTD idala ushintsho olukhulu,” kusho uChow. “Ngakho-ke abantu abalungile baba abantu abanyanyekayo kakhulu. Kungumehluko ophawulekayo othinta yonke into mayelana nendlela umhlaba okubona ngayo nokuthi uwubona kanjani umhlaba.”
Ngokombono womtholampilo, i-FTD ihlukumeza imindeni, kusho udokotela.
“Laba ngabantu ikakhulukazi abaseminyakeni yawo-40 noma engu-50,” kusho yena. “Basasebenza futhi kungenzeka bakhuthele kakhulu emphakathini wabo. Basakhulisa izingane. Ngakho-ke ngezinye izindlela, umthelela mkhulu kakhulu kwezomnotho kanye nemiphumela emibi kubantu ababazungezile.”
Kuyinselelo uNash azi kahle kakhulu. Ubaba wakhe waqala ukubonisa izimpawu ze-FTD lapho eneminyaka engu-38 kuphela, njengoba nje uNash ayengena esikoleni esiphakeme.
Umgwaqo omude wokuxilonga
“Inselelo enkulu kwaba ukumbona eshintsha ngokuphelele ekubeni omunye futhi eba umuntu engingakaze ngicabange ukuthi angaba nguye,” kusho uNash etshela iFox News Digital engxoxweni. “Futhi kufanele ngikhulele kulowo mkhathi – kwakunzima.”
Kwaphela iminyaka eyisikhombisa ngaphambi kokuba uyise kaNash atholakale ngokusemthethweni.
“Sidlule eminyakeni eminingi singaziwa nemibuzo,” kusho uNash.
U-Nash, osesithombeni noyise nomfowabo, wayeneminyaka engu-20 kuphela ubudala lapho ethola ukuthi ungumuntu ophethe uguquko lofuzo olungabangela i-FTD (ukuwohloka komqondo okungaphambili kwe-frontotemporal). (Alyssa Nash)
Ekanye nonina nomfowabo, uNash wasiza ekunakekeleni ubaba wakhe njengoba ukuwohloka komqondo kwakhe kwakuqhubeka, ngisho nalapho ezama ukufihla isimo sakhe kuwo wonke umuntu esikoleni sakhe esiphakeme.
“Kule mfihlo enkulu engangiyigcina,” kusho yena. “Empeleni nganginezimpilo ezimbili. Angizange ngitshele muntu esikoleni ngoba ngangingafuni ukuhluka – ngangifuna ukuzizwa ngijwayelekile, ngomqondo othile.”
Wanezela, “Kodwa-ke kuzodingeka ngiye ekhaya ngokushesha ukuze ngisize ekunakekeleni ubaba futhi ngiqiniseke ukuthi uyaphila.”
Ukuxilonga ukubambezeleka kuvamile
Iningi lamacala okuwohloka komqondo – ngaphezu kwama-60%, ucwaningo lukhombisa – alutholwa ngenxa yezizathu eziningi, ngokusho kukaDiane Ty, umqondisi omkhulu weMilken Institute Center for the Future of Aging. eWashington, DC
Futhi ngesikhathi behlonzwa, isimo sesijwayele ukudlulela ezigabeni zakamuva, kusho yena.
U-Ty waba nokuhlangenwe nakho okufanayo lapho ubaba wakhe eqala ukubonisa izimpawu zokuwohloka komqondo.
“Kufanele ngabe senza ukuhlolwa kwengqondo njengengxenye yokunakekelwa okuyisisekelo.”
“Sidide ezinye izinselelo zokuziphatha ebesizibona njengemiphumela yokuthi athathe umhlalaphansi ngaphambi kwesikhathi futhi acindezeleke, kodwa uma sibheka emuva, kwaba yizigaba zokuqala zokuwohloka komqondo,” esho ngesikhathi exoxa neFox News Digital.
Ezimweni eziningi, uTy uthe, akufiki kuze kube khona uhlobo oluthile lwengozi noma isigameko lapho umuntu othintekayo elethwa ukuze ahlolwe.
“Akwamukelekile lokho,” kusho yena. “Kufanele ngabe senza ukuhlolwa kwengqondo njengengxenye yokunakekelwa okuyisisekelo, hhayi ngokungafani ukuthola i-mammogram noma i-colonoscopy. Kufanele kube yingxenye yokuvakasha kwaminyaka yonke kwezempilo.”
U-Ty wanezela, “Asibheki njalo impilo yethu yobuchopho. Ngicabanga ukuthi lokho kungenye yezithiyo ezinkulu zokutholwa nokuxilongwa ngesikhathi.”
Ukuhlolwa kofuzo: ‘Bengidinga ukwazi’
Kwezinye izimo, i-FTD ingadluliselwa phansi isuka kumzali iye enganeni.
“Senze inqubekelaphambili enkulu ekunqumeni ukuguqulwa kofuzo okubonakala kuyimbangela yokuwohloka komqondo we-frontotemporal, ngaphezu kwesifo i-Alzheimer’s,” kuchaza uChow.
Iningi lamakesi ofuzo e-FTD abangelwa ukuguqulwa kofuzo olulodwa kwezintathu: C9ORF72, MAPT noma GRN.
“Inselelo enkulu kwaba ukumbona eshintsha ngokuphelele ekubeni omunye futhi eba umuntu engangingakaze ngicabange ukuthi angaba nguye,” kusho uNash ngoyise, owaqala ukubonisa izimpawu ze-FTD eneminyaka engu-38 kuphela ubudala. Uboniswe lapha eseyingane (phambili) enoyise nomfowabo. (Alyssa Nash)
UChow waphawula ukuthi u-30% kuya ku-40% weziguli eziphila ne-FTD zithwala lezi zinguquko zofuzo noma okuhlukile.
“Yilapho-ke ukwelulekwa ngolibofuzo kubaluleka khona,” kusho yena. “Umeluleki wolibofuzo uzovame ukukhuluma ngobuhle nobubi bokwazi lolu lwazi bese ebhekana nezimo uma ukuhlolwa kuvela ukuthi unalo.”
“Ngesikhathi bethi nginenketho yokuhlolwa kolibofuzo, ngathi, ‘Ngibhaliseni.”
Kuthe nje uyise kaNash waxilongwa uNash wathola ukuthi lesi sifo siwulibofuzo, wayazi ukuthi ufuna ukuthola ukuthi akayena yini umthwali woguquko.
“Bengidinga ukwazi, ngoba iminyaka eminingi, bengingakwazi ukulawula,” etshela iFox News Digital. “Bengidinga ukwenza icebo. Leli bekuyithuba lokuzilawula.”
Wanezela, “Ngesikhathi bethi ngingakwazi ukukhetha ukuhlola ulibofuzo, ngathi, ‘Ngibhaliseni.’
Izindaba ezinzima ziholela ekuthuthukisweni
Lapho uNash ethola ngo-2016 ukuthi ungumphathi wofuzo, wayenemizwa exubile.
Ngakolunye uhlangothi, wayesaba ukuthi lokho kungase kusho ukuthini ngekusasa lakhe.
“Ngakuthwala kanzima ngesikhathi ngiqala ukuzwa,” kusho yena. “Kuthathe iminyaka ngaphambi kokuthi ngikhulume ngakho esidlangalaleni.”
U-Nash, osesithombeni egqoke ikepisi nejazi ngesikhathi ethweswa iziqu esikoleni samabanga aphakeme nomndeni wakhe, wasiza ekunakekeleni ubaba wakhe njengoba ukuwohloka komqondo kwakhe kwakuqhubeka, ngisho nalapho ezama ukufihla isimo sakhe kuwo wonke umuntu esikoleni. (Alyssa Nash)
Ekuqaleni, uNash wayezicubungulile lezi zindaba kwangathi ziwukuxilongwa. Kodwa ngokuhamba kweminyaka, wathola ukuthi ulwazi lwamsiza ukuba aqonde ngisho nemininingwane emincane yokuphila kwansuku zonke.
“Manje ngizizwa nginamandla ngalolu lwazi,” uNash etshela iFox News Digital. “Kuzosiza kakhulu kunalokho ebengikucabanga. Lokho kuphenduka kobuchopho bekudingeka nakanjani.”
U-Nash uthe uyakwazisa ukuba nekhono lokwabelana nabathandekayo bakhe ngalokho akutholile – abantu abazothinteka kakhulu, ekugcineni, uma ukuthambekela kwakhe kuholela ekuxilongweni emgwaqeni.
UNash uthe unethemba lokuthi imishanguzo yokuwohloka komqondo ingase itholakale kusenesikhathi ukuze imzuzise.
“Bengingeke ngifise ukuthi isitha sami esikhulu sidlule kulokhu engidlule kukho singazitholi izimpendulo,” kusho yena.
Ukwelashwa kokuwohloka komqondo kusendleleni
Nakuba zikhona izindlela zokwelapha ezikwazi ukwelapha izimpawu zokuwohloka komqondo – emzamweni wokwenza abantu bangakhathazeki kakhulu noma bangahlaliseki – azikho izindlela zokwelapha zokuguqula izifo ezigunyazwe yi-FDA njengamanje, kusho uChow.
“Kunezindlela zokwelapha ezimbalwa ezihlolwayo eziklanyelwe ukukhomba ukuguqulwa kofuzo okuthile kwe-FTD,” kusho uChow.
OCWANINGO LWE-ALZHEIMER, AMAPHILISI OKULALA AKHOMBISWA UKUZE Ehlise IZIMPAWU ZESIFO BUCHOPHO.
I-Alector, inkampani ye-biotechnology lapho u-Chow esebenza khona ekuthuthukisweni kwezidakamizwa, okwamanje yenza izivivinyo zomtholampilo ezithuthukisiwe zomuthi okuthiwa i-latozinemab.
“Nakuba kusaphenywa, umuthi ungathuthukisa izici zesistimu yethu ukuze usule amaqoqo amaprotheni angavamile. [in the brain] okukholakala ukuthi kudala iFTD,” kusho uChow.
Njengoba enikezwe iminyaka yakhe emisha, uNash uthe unethemba lokuthi izindlela zokwelapha zokuwohloka komqondo zingatholakala kusenesikhathi ukuze zimzuzise.
“Manje ngizizwa nginamandla ngalolu lwazi,” uNash utshele iFox News Digital ngokuthola ukuthi uphethe ukuguqulwa kofuzo kwe-FTD. “Kuzosiza kakhulu kunalokho ebengikucabanga.” (Alyssa Nash)
“Lowo mehluko wesikhathi unikeza ithuba lokusebenzisa indlela yokwelapha yokuguqula isifo uma usugunyaziwe, ngoba uma uqala ukwelashwa okufakazelwe ukuthi kusebenza kahle futhi kuphephile, kuba nethuba elingcono lokuthi ungazitholi izimpawu uma usufinyelele eminyakeni engama-50 noma engama-60. ,” kusho uChow.
“Futhi yilokho okwenza kube namandla.”
U-Ty unethemba futhi mayelana namandla okwelashwa kokuwohloka komqondo – hhayi kuphela ngokuthola imithi emisha, kodwa futhi nokuphinda asebenzise imithi ekhona kakade.
“Eminyakeni engu-10 ezayo, ngithemba ukubona izinguquko ezijabulisayo endleleni esihlonza ngayo, esihlonza ngayo futhi eselaphe ngayo ukuwohloka komqondo.”
“Ucwaningo lwakamuva luveze ukuthi kukhona ukungabaza kodokotela ukuthi baxoxisane bahlole ngoba kukhona lo mbono wokuthi akukho esingakwenza,” usho kanje. “Kodwa ngicabanga ukuthi lokho kuzoshintsha ngokwethulwa kwamanye alawa maphilisi amasha.”
“Eminyakeni engu-10 ezayo, ngithemba ukuthi ngizobona izinguquko ezijabulisayo endleleni esihlonza ngayo, esihlonza ngayo futhi selaphe ukuwohloka komqondo,” wengeza.
Kukhona futhi izindlela zokubambezela ukukhula kokuwohloka komqondo ukuguqulwa kwendlela yokuphilawaveza uTy.
CHOFOZA LAPHA UKUZE UTHOLA UHLELO LOKUSEBENZA IZINDABA
Ucwaningo lwango-2020 olwanyatheliswa kuyi-Lancet luhlonze izinto eziyi-12 ezingalungiseka engcupheni yokuwohloka komqondo, okuhlanganisa ukubhema, ukungawuvivinyi umzimba, ukuzihlukanisa nabantu, ukudangala, ukungcoliswa komoya, ukuntuleka kwemfundo, ukungezwa, ukulimala kwengqondo okubuhlungu, umfutho wegazi ophakeme, ukuphuza ngokweqile, isifo sikashukela nokukhuluphala.
“Uma lokho kungaphathwa, bengehlisa u-40% wokuwohloka komqondo emhlabeni wonke,” kusho uTy.
Ukubheka phambili: ‘Ngijabulile ngekusasa lami’
Kulabo ababhekene nomzabalazo ofanayo, iseluleko sikaNash siwukuthi bangayivaleli yonke imizwa ehambisana nakho futhi funa ukunakekelwa kwezempilo yengqondo.
“Beka imizwa yakho lapho,” kutusa. “Kulungile ukungalungi ngezinye izikhathi. Kunzima ukuthwala, kodwa ulwazi lungamandla.”
“Ungenza icebo,” eqhubeka.
“Kimina, ngizokwenza konke engingakwenza ukusiza abantu futhi ngisize mina.”
CHOFOZA LAPHA UKUZE Ubhalisele IPHEPHA LETHU LEZEMPILO
Isikhathi eside ngemva kokuthola ukuguqulwa kwakhe, uNash wayegxile embonweni wokuthi “uneminyaka eminingi kuphela” ngaphambi kokuba izimpawu zakhe zokuwohloka komqondo ziqale. Nokho, eminyakeni embalwa edlule – ngosizo lohlelo lokwesekwa komndeni wakhe kanye nezikhathi zokwelulekwa njalo – usethathe umqondo omusha.
“Ngiphinde ngazithola,” kusho yena. “Nginekusasa elibi, futhi angikwazi ukulinda.”
