Ingabe nawe unakho ukuthuthumela okungalawuleki? Ingabe uyakhohlwa izinto? Ake sixoxe ngeSifo sikaHuntington!

Ingabe ngezinye izikhathi uzizwa sengathi izingalo nemilenze yakho kuyanyakaza ngendlela engachazeki? Noma uzizwa sengathi ukhohlwa izinto obuzikhumbula kahle? Noma ingabe othile omaziyo unale nkinga? Esinye isizathu esingaba khona salezi zinto yisimo esibizwa ngokuthi isifo sikaHuntington. Namuhla, sizoxoxa ngaso ngokuningiliziwe, ngendlela elula kakhulu. Ungesabi, kubaluleke kakhulu ukuqaphela lokhu.

Uyazi ukuthi siyini isifo sikaHuntington?

Kalula nje, i-Huntington's Disease yisimo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane. Yisimo lapho amanye amangqamuzana ebuchosheni bethu ewohloka kancane kancane futhi elahlekelwa ukusebenza kwawo. Ikakhulukazi, sithinta izingxenye zobuchopho ezilawula ukunyakaza okuzithandela njengokuhamba nokuthuthumela, kanye nezingxenye zobuchopho ezihilelekile enkumbulweni yethu .

Izimpawu ezivame kakhulu zalesi sifo ukunyakaza okungalawuleki njengokudlikiza nokuthuthumela, kanye nezinguquko ekucabangeni kwethu, ekuziphatheni, nasebuntwini bethu . Okudabukisayo ukuthi, lezi zimpawu zivame ukuba zimbi kakhulu ngokuhamba kwesikhathi. Kodwa ungakhathazeki, ukuqaphela lokhu kungasisiza silungiselele okuningi.

Yiziphi izinhlobo eziyinhloko zeSifo sikaHuntington?

Kunezinhlobo ezimbili eziyinhloko zesifo sikaHuntington:

1. Ukuqala kokugula kwabantu abadala: Lolu uhlobo oluvame kakhulu. Izimpawu zivame ukuqala ukuvela ngemva kweminyaka engama-30.

2. Isifo sikaHuntington esiqala ekuqaleni (esincane): Lolu uhlobo olungavamile kakhulu. Luthinta izingane ezincane kanye nabantu abadala abasebasha.

Sivame kangakanani lesi sifo? Ngubani onamathuba amaningi okusithola?

Isifo sikaHuntington sitholakala emhlabeni wonke, kodwa ngokwezibalo, sithinta abantu abangaba bathathu kuya kwabayisikhombisa kwabayikhulu lamakhulu . Sivame kakhulu kubantu bozalo lwaseYurophu (okusho abantu abanozalo lwaseYurophu). Kodwa khumbula, kuyisimo sofuzo, ngakho noma ubani angasithola.

Yiziphi izimpawu esizibonayo kulesi sifo?

Isifo sikaHuntington sithinta imizimba yethu kanye nengqondo yethu. Ake sibheke ukuthi ziyini lezi zimpawu.

Izinguquko emzimbeni (izimpawu zomzimba)

Lezi yizici eziyinhloko zomzimba ezingabonakala:

• Ukunyakaza okungalawulwa njengokuthuthumela noma ukunyakazisa izitho: Yilokhu esikubiza ngokuthi i-chorea ngokwezokwelapha.
• Ukulahlekelwa ibhalansi : Ubunzima bokuhamba noma ukuma uqonde. Lokhu kubizwa ngokuthi i-ataxia .
• Ubunzima bokuhamba.
• Ukudla noma uketsheziUbunzima bokugwinya: Lokhu kubizwa ngokuthi i-dysphagia .
• Inkulumo engaqondakali.

Lezi zimpawu zomzimba azibonakali ngokuzumayo. Ziqala ngezinto ezincane ekuqaleni. Cabanga ngakho, unenkinga yokubamba ipeni kahle, ukulahla izinto njalo, ulahlekelwe ibhalansi yakho. Kodwa ngokuhamba kwesikhathi, lezi zimpawu zinganda kancane kancane.

Imiphumela engqondweni nasemizweni (izimpawu zengqondo)

Ngaphezu kwezimpawu zomzimba, umuntu onesifo sikaHuntington angase abhekane nezinguquko zengqondo nezokuziphatha ezifana nalezi:

• Izinguquko emizweni: intukuthelo evame ukwenzeka, ukukhathazeka, ukudabuka ( ukucindezeleka ), ukucasuka.
• Ubunzima ngenkumbulo, ukunaka, kanye nokwenza imisebenzi eminingi ngesikhathi esisodwa.
• Ubunzima bokufunda izinto ezintsha.
• Ubunzima bokwenza izinqumo nokucabanga ngendlela enengqondo.

Ekuqaleni, lezi zimpawu zomzimba nezengqondo zingase zingabi nomthelela omkhulu emisebenzini yakho yansuku zonke. Kodwa-ke, ngokuhamba kwesikhathi, lezi zimpawu zingenza kube nzima ukusebenza ngokuzimela.

Kuyini lokhu kuthuthumela kwamalungu (i-Chorea) okubonakala esifweni sikaHuntington?

Esinye sezibonakaliso zokuqala zomzimba zesifo sikaHuntington yisimo esibizwa ngokuthi i-chorea . Lokhu kwenzeka lapho izingxenye zomzimba zinyakaza noma zinyakaza ngokungazikhetheli futhi ngaphandle kokulawula kwethu. Ngokuvamile kuqala kuthinta izandla, iminwe, kanye nemisipha yobuso. Kamuva, izingalo, imilenze, kanye nomzimba ongaphezulu nazo ziqala ukunyakaza ngokungalawuleki. I-Chorea ingenza kube nzima ukukhuluma, ukudla, nokuhamba. Ingathinta nemisebenzi yansuku zonke njengokushayela.

Kungani iSifo sikaHuntington senzeka? Iyini imbangela?

Imbangela eyinhloko yesifo sikaHuntington ukushintsha kwezakhi zofuzo zethu. Uma sikhuluma iqiniso, kubangelwa ukuguquka kwezakhi zofuzo okuthiwa i-'HTT' . Le gene ye-'HTT' ikhiqiza iphrotheni ebizwa ngokuthi i-'Huntingtin protein' emizimbeni yethu. Le phrotheni isiza amangqamuzana ethu ezinzwa '(ama-Neuron)' ukuthi asebenze kahle.

Kodwa-ke, umuntu onesifo sikaHuntington akanalo lonke ulwazi ku-DNA yakhe yokwenza iphrotheni yokuzingela kahle. Ngenxa yalokho, iphrotheni yakheka ngendlela engafanele, ngesimo esingavamile, futhi esikhundleni sokusiza amangqamuzana ethu ezinzwa , iqala ukuwabhubhisa. Lokhu kuguquka kwezakhi zofuzo yikona okubangela ukuba amangqamuzana ezinzwa afe.

Lokhu kulahlekelwa kwamangqamuzana ezinzwa kwenzeka ikakhulukazi engxenyeni yobuchopho bethu ebizwa ngokuthi i-"Basal Ganglia" elawula ukunyakaza , kanye ne-"Brain Cortex" elawula ukucabanga kwethu, ukwenza izinqumo kanye nenkumbulo .

Ingabe lesi isifo esizuzwe njengefa?

Yebo, ukuguquka kwezakhi zofuzo okubangela isifo sikaHuntington kungazuzwa njengefa. Uma omunye wabazali bakho bemvelo enokuguqulwa kwezakhi zofuzo, kungenzeka nawe uzuze njengefa. Lokhu kubizwa ngokuthi iphethini elilawulayo lefa le-autosomal . Kulesi simo, uma omunye umzali enesifo, ingane inethuba elingu-50% lokuthuthukisa lesi sifo. Kodwa-ke, akuvamile kakhulu, umuntu angathuthukisa lesi sifo ngokuguqulwa kwezakhi zofuzo okusha, noma ngabe akekho emndenini oke waba nalesi sifo ngaphambili.

Ubani osengozini enkulu yokuthola lesi sifo?

Nakuba noma ubani engaba nesifo sikaHuntington, usengozini enkulu uma othile emndenini wakho enesifo. Njengoba kushiwo ngaphambili, uma omunye wabazali bakho enesifo sikaHuntington, unethuba elingu-50% lokuba naso.

Yiziphi izinkinga ezingaba khona zeSifo sikaHuntington?

Isifo sikaHuntington siyisimo esiqhubekayo, okusho ukuthi izimpawu ziya ziba zimbi kancane kancane ngokuhamba kwesikhathi . Izinkinga ezingaba khona zifaka:

• I-Dementia : Lokhu kusho ukwehla kokusebenza kobuchopho, ukulahlekelwa yinkumbulo, kanye nezinguquko ezinkulu zobuntu.
• Ukulimala ngokomzimba okubangelwa ukunyakaza okungalawuleki noma ukuwa.
• Ubunzima bokugwinya ukudla kungabangela ukungakwazi ukudla nokuphuza kahle, okuholela ekungondleki kahle .
• Ukungakwazi ukuhamba ngaphandle kosizo.
• Ukutheleleka okuvamile, ikakhulukazi izifo zamaphaphu ezifana ne-pneumonia.

Izingane ezithola isifo sikaHuntington zisencane nazo zingase zibe nesifo sokuwa .

Uyithola kanjani ngokunembile lesi sifo? (Ukuxilongwa)

Udokotela, ikakhulukazi udokotela wezinzwa , angakutshela ngokuqinisekile ukuthi unesifo sikaHuntington. Uzokuhlola futhi abheke izimpawu zokuthuthumela, ukuthuthumela, ibhalansi, ukusabela okubonakalayo, kanye nokuxhumana. Bazobuza nokuthi ngabe kukhona yini emndenini wakho onesifo. Ezimweni eziningi, kudingeka ukuhlolwa kofuzo ukuqinisekisa ukuxilongwa.

Ukuze kukhishwe ezinye izimo ezibangela izimpawu ezifanayo futhi kuqinisekiswe ukuthi yisifo sikaHuntington, kwenziwa izivivinyo ezilandelayo:

• Ukuhlolwa kwegazi .
• Ukuhlolwa Kwezakhi Zofuzo.
• Ukuhlolwa kwezithombe zobuchopho: Isibonelo, `( MRI – Magnetic Resonance Imaging)` kanye `(I-CT scan – I-Computed Tomography scan).

Kuyini ukuhlolwa kofuzo? Kukuthola kanjani lokhu?

Ukuhlolwa kofuzo ukuhlolwa kwegazi okubheka izinguquko ku-DNA yakho. Udokotela wakho uzothatha isampula yegazi kuwe alithumele elebhu ukuze ahlole i-DNA yakho. Lokhu kuhlolwa kungakutshela ngokuqinisekile ukuthi unayo yini i-HTT gene mutation okukhulunywe ngayo ngenhla. Umeluleki wezakhi zofuzo (umuntu ochwepheshe ekuhlolweni kofuzo) uzochaza inqubo nemiphumela yakho.

Udokotela wakho angase futhi ancome ukuthi amanye amalungu omndeni athole lolu vivinyo lofuzo. Lokhu kuzosiza ekuhloleni ingozi yawo yokuthola lesi sifo noma yokuba nengane enesifo esikhathini esizayo.

Kungenzeka yini ukwazi ukuthi unalesi sifo ngaphambi kokuba kuvele izimpawu?

Yebo, ungakwazi. Uma omunye wabazali bakho noma izingane zakini enesifo sikaHuntington, nawe usengozini enkulu yokuba naso. Ukuhlolwa Kofuzo Okubikezelayo kungakutshela ukuthi une-gene mutation ebangela isifo sikaHuntington ngaphambi kokuba kuvele izimpawu .

Abantu basabela ngendlela ehlukile kulolu lwazi. Ukwazi ukuthi unezakhi zofuzo kungakusiza ukuthi uhlele umndeni wakho futhi wenze izinqumo zezimali. Kodwa-ke, kungaba nzima ngokomzwelo, ikakhulukazi njengoba lesi sifo singenakuvinjelwa. Ngakho-ke, kubalulekile ukuxoxa nomeluleki wakho wezakhi zofuzo ukuthi kungcono yini ukuthi uhlolwe ngaphambi kokuba kuvele izimpawu.

Yiziphi izindlela zokwelapha isifo sikaHuntington?

Umgomo oyinhloko wokwelashwa kwesifo sikaHuntington ukukwenza uzizwe ukhululekile ngangokunokwenzeka. Okwamanje akukho ukwelashwa okungamisa lesi sifo, kubambezele ukuqala kwezimpawu, noma kusivimbele. Ngenxa yokuthi lesi sifo sithinta impilo yakho yomzimba, yengqondo, nengokomzwelo, ungadinga ukwelashwa okuhlukahlukene. Lokhu kufaka phakathi:

• Ukwelashwa Komzimba noma Ukwelashwa Komsebenzi.
• Ukwelapha Ngenkulumo.
• Ukwelulekwa.
• Imithi.

Yimiphi imithi enikezwa ukulawula izimpawu?

Udokotela wakho angase akunike imithi ehlukene kuye ngezimpawu zakho.

Imithi evame ukunqunywa ukulawula i-chorea (ukujikijela) yile:

• `I-Tetrabenazine`
• `I-Deutetrabenazine`
• `I-Haloperidol`

Ukuze ulawule izimpawu zemizwa (njengokushintshashintsha kwemizwelo nokucindezeleka), udokotela wakho angase akunike imithi efana nalokhu:

• Ama-antidepressants: Isibonelo, i-Fluoxetine ne-Sertraline.
• Imithi yokulwa nesifo sengqondo: Isibonelo, i-Risperidone ne-Olanzapine.
• Imithi yokuzinzisa isimo sengqondo: Isibonelo, i-lithium.

Okubalulekile: Yonke le mithi ingabangela imiphumela emibi. Isibonelo, ungase uzwe ubuhlungu bemisipha ngemva kokwelashwa ngokomzimba, noma ungase uzwe ukukhathala noma umfutho wegazi ophansi ngenxa yemithi ye-chorea. Udokotela wakho uzokuchazela konke lokhu ngaphambi kokuba uqale ukwelashwa, ukuze ukwazi ukwenza isinqumo esinolwazi.

Ubani ithimba lezokwelapha elizokusiza?

Ithimba lezokwelapha elikusiza ukubhekana nalesi sifo lingafaka ochwepheshe abafana nalaba:

• Udokotela ochwepheshe ebuchosheni nasezinzwa (i-Neurologist).
• Udokotela wezifo zengqondo.
• Umeluleki Wezakhi Zofuzo.
• Uchwepheshe wezokwelapha ngokomzimba.
• Udokotela Wezokwelapha Emsebenzini.
• Umeluleki wezokukhuluma.

Ingabe ikhona indlela yokuvimbela lesi sifo ukuthi singakhuli?

Okwamanje ayikho indlela yokuvimbela noma yokunciphisa ingozi yokuthola isifo sikaHuntington. Kodwa-ke, uma uhlela ukuqala umndeni, khuluma nomeluleki wezakhi zofuzo futhi ufunde ngokuhlolwa kwezakhi zofuzo. Lokhu kungakusiza ukuthi uqonde ingozi yakho yokuba nengane enesifo sofuzo. Manje kungenzeka ukusebenzisa i-IVF (In Vitro Fertilization) kanye nokuhlolwa kwezakhi zofuzo ukuvimbela izingane zesikhathi esizayo ukuthi zingatholi isifo sikaHuntington njengefa.

Isifo sikaHuntington siba sibi kanjani ngokuhamba kwesikhathi? (Izigaba zalesi sifo)

Isifo sikaHuntington yisimo esiba sibi kancane kancane ngokuhamba kwesikhathi. Nakuba lokhu kungahluka kumuntu nomuntu, kuvame ukudlula ezigabeni ezilandelayo:

• Isigaba sokuqala: Izimpawu zincane. Ungase uzizwe ungaphumuli, udidekile, ube nobunzima bokucabanga izinto eziyinkimbinkimbi, futhi ungase ube nokunyakaza okuncane okungalawuleki. Kodwa ngokuvamile ungenza imisebenzi yansuku zonke.
• Isigaba esiphakathi:Izinguquko zomzimba nezengqondo zingenza kube nzima kakhulu ukusebenza, ukushayela, nokwenza imisebenzi yasekhaya. Ukugwinya kungaba nzima, ngakho ukukhuluma nokudla kungaba yinselele, kodwa akuyona into engenakwenzeka. Kunengozi enkulu yokuwa ngenxa yokulahlekelwa ibhalansi. Imisebenzi yomuntu siqu efana nokugeza nokugqoka isengenziwa.
• Isigaba sokugcina: Kunzima kakhulu ukwenza imisebenzi yansuku zonke wedwa. Abantu abaningi abakwazi ngisho nokuvuka embhedeni ngaphandle kosizo. Kulesi sigaba, badinga ukunakekelwa amahora angama-24 ukuze badle, bageze, futhi banakekele impilo yabo.

Ingabe ikhona ikhambi eliphelele lalokhu?

Okwamanje akukho ukwelashwa kwesifo sikaHuntington. Kodwa-ke, izivivinyo zemitholampilo ( izivivinyo kubantu) ziyaqhubeka ukuze kufundwe kabanzi ngalesi sifo futhi kubonwe ukuthi izindlela ezintsha zokwelapha zingasiza kanjani.

Ungaphila isikhathi esingakanani nalesi sifo?

Isilinganiso sobude bokuphila ngemva kokuxilongwa ngesifo sikaHuntington siphakathi kweminyaka eyi-10 nengama-30 .

Ingabe isifo sikaHuntington siyabulala?

Isifo sikaHuntington asibulali ngokuqondile. Kodwa-ke, ngokuhamba kwesikhathi, lesi sifo singenza kube nzima ukwenza imisebenzi yansuku zonke. Ukuthi sishesha kangakanani siya ngokuya siba sibi kuyahlukahluka kuye ngomuntu nomuntu. Kodwa-ke, izinkinga zalesi sifo, njenge-pneumonia, noma ukulimala kokuwa, zingaholela ekufeni.

Ngingaphila kanjani kahle nalesi simo? (Ukuzinakekela)

Ngisho noma isifo sikaHuntington sibi kakhulu, kunezinto ongazenza ukuze ulondoloze impilo engcono kakhulu. Nazi ezinye iziphakamiso:

• Vivinya umzimba njalo: Ucwaningo lukhombisile ukuthi ukuzivocavoca kukwenza uzizwe ungcono kakhulu.
• Yidla ukudla okunempilo: Udokotela wakho angase akuncomele izinguquko ezithile ekudleni kwakho. Ukunyakaza okungalawulwa kungashisa amakhalori afinyelela ku-5,000 ngosuku. Ngakho-ke, ukudla okulinganiselayo kubalulekile.
• Phuza amanzi amaningi: Uma unenkinga yokugwinya ukudla, kunengozi yokuphelelwa amanzi emzimbeni. Ngakho-ke, odokotela bacebisa ukuthi uhlale unamanzi emzimbeni.
• Thola iqembu lokusekela: Buza udokotela wakho ngezinsiza zomphakathi lapho ungaxhumana khona nabanye abanjengawe.
• Izinsizakalo zokunakekela ucwaningo: Ngesinye isikhathi, ungase udinge izinsizakalo zokunakekela ekhaya noma ukunakekelwa kwasekhaya lasebekhulile. Qaphela lokhu kusenesikhathi.
• Khetha umeluleki othembekile: Njengoba isifo siqhubeka, kungadingeka ukuthi unikeze omunye umuntu imithwalo yemfanelo yezezimali kanye nokwenza izinqumo. Lesi yisinqumo esinzima kodwa esibalulekile okufanele usithathe. Hlela okulindelwe ngaphambi kokuba izimpawu zakho zenze kube nzima ukwenza izinqumo.

Khumbula, nakuba isifo sikaHuntington singenakuvinjelwa, ungasihlela. Kungathatha iminyaka ukuthi izimpawu zibe zimbi kakhulu. Phakathi naleso sikhathi, unesikhathi sokuthola odokotela abathembekile futhi uthole ukwesekwa okudingayo ngekusasa. Uma wena noma othile emndenini wakho enesifo sikaHuntington, khuluma nomeluleki wezakhi zofuzo ngalokho okudingeka ukwazi.

Yimiphi imibuzo okufanele uyibuze udokotela wakho?

Ungabuza udokotela imibuzo efana nale:

• Sizoba njani isimo sami esikhathini esizayo? (Isibikezelo)
• Yikuphi ukwelashwa okuncomayo?
• Yimiphi imiphumela emibi engaba khona yokwelashwa?
• Ngingazigwema kanjani izinkinga?
• Ngingalungiselela kanjani isigaba sokugcina sesifo sikaHuntington?
• Ungangincoma ukuthi wonke umndeni wami nawo uyohlolwa izakhi zofuzo?

Isifo sikaHuntington singenza kube nzima ngawe ukuzinakekela ngokuhamba kwesikhathi. Kungaba nzima ukwazi ukuthi wena noma umuntu omthandayo unesifo. Kodwa-ke, ngenxa yokuthi izimpawu zingathatha iminyaka ukuvela, unesikhathi sokulungiselela ukunakekelwa kwesikhathi esigcwele nokusekelwa. Nakuba kungase kudingeke wenze izinqumo ezibalulekile zesikhathi eside mayelana nempilo yakho, akufanele usheshe wenze lezi zinqumo ezizothinta ikusasa lakho.

Kungaba lula ukulahla ithemba uma uqaphela ukuthi lesi sifo sizokuthinta kanjani esikhathini esizayo. Kodwa awuwedwa. Abantu abaningi bathola induduzo ngokukhuluma nomeluleki wezempilo yengqondo noma ukujoyina iqembu lokusekela. Futhi ucwaningo luyaqhubeka nokufunda kabanzi mayelana nezinketho zokwelapha ezingasiza ekuthuthukiseni ikhwalithi yempilo yakho.

Umyalezo Wokuya Ekhaya:

Kulungile, ngakho-ke, kulokho esikhulume ngakho, kunezinto ezimbalwa okufanele uzikhumbule nakanjani :

• Isifo sikaHuntington yisifo esibangelwa izakhi zofuzo esonakalisa amangqamuzana obuchopho.
• Lokhu kubangela ukunyakaza okungalawuleki (i-chorea) kanye nezinguquko zengqondo .
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha zokulawula izimpawu nokwandisa induduzo.
• Uma wena noma othile emndenini wakho usola ukuthi unalesi sifo, kubaluleke kakhulu ukufuna iseluleko sezokwelapha kanye nokwelulekwa ngofuzo.
• Nakuba ukuphila nalesi sifo kungaba yinselele, ngokuhlela okufanele, ukwesekwa, kanye nokwazi, ungabhekana nakho ngamandla. Ucwaningo ngemithi emisha luyaqhubeka, ngakho-ke hlala unethemba.

Uma ufuna ukwazi okwengeziwe ngalokhu, ungesabi ukubuza udokotela. Hlala uphilile!