Ngaba nawe uneengcangcazelo ezingalawulekiyo? Ngaba uyazilibala izinto? Masithethe ngeSifo sikaHuntington!

Ngaba ngamanye amaxesha uziva ngathi iingalo nemilenze yakho ziyaxhuzula ngendlela engachazekiyo? Okanye uziva ngathi uyazilibala izinto obuzikhumbula kakuhle? Okanye ngaba kukho umntu omaziyo onale ngxaki? Esinye isizathu esinokubakho sezi zinto yimeko ebizwa ngokuba sisifo sikaHuntington. Namhlanje, siza kuthetha ngayo ngokweenkcukacha, ngendlela elula kakhulu. Musa ukoyika, kubaluleke kakhulu ukuqaphela oku.

Ngaba uyazi ukuba yintoni isifo sikaHuntington?

Ngamafutshane, iSifo sikaHuntington sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana. Sisifo apho ezinye zeeseli ezikwingqondo yethu zonakala kancinci kancinci kwaye zilahlekelwa ngumsebenzi wazo. Ngokukodwa, sichaphazela iindawo zengqondo ezilawula iintshukumo zokuzithandela ezifana nokuhamba nokungcangcazela, kunye neendawo zengqondo ezibandakanyeka kwinkumbulo yethu .

Iimpawu eziqhelekileyo zesi sifo kukuhambahamba okungalawulekiyo njengokungcangcazela nokungcangcazela, kunye notshintsho kwindlela esicinga ngayo, indlela esiziphatha ngayo, kunye nobuntu bethu . Into ebuhlungu kukuba, ezi mpawu zidla ngokuba mandundu ngokuhamba kwexesha. Kodwa ungakhathazeki, ukuqaphela oku kunokusinceda silungiselele okuninzi.

Ziziphi iintlobo eziphambili zeSifo sikaHuntington?

Kukho iintlobo ezimbini eziphambili zesifo sikaHuntington:

1. Ukuqala kwabantu abadala: Olu lolona hlobo luqhelekileyo. Iimpawu zihlala ziqala ukubonakala emva kweminyaka engama-30.

2. Isifo sikaHuntington esiqala kwangethuba: Esi sisifo esingaqhelekanga kakhulu. Sichaphazela abantwana abancinci kunye nabantu abadala abancinci.

Sixhaphake kangakanani esi sifo? Ngubani onokuba naso?

Isifo sikaHuntington sifumaneka kwihlabathi liphela, kodwa ngokwezibalo, sichaphazela abantu abamalunga nabathathu ukuya kwabasixhenxe kwikhulu lamawaka ngalinye . Sixhaphake kakhulu kubantu abazalwa eYurophu (oko kuthetha abantu abanemvelaphi yaseYurophu). Kodwa khumbula, sisifo semfuza, ngoko ke nabani na angayihlakulela.

Ziziphi iimpawu esizibonayo kwesi sifo?

Isifo sikaHuntington sichaphazela imizimba yethu kunye nengqondo yethu. Makhe sijonge ukuba zeziphi ezi mpawu.

Utshintsho emzimbeni (iimpawu zomzimba)

Ezi zezona mpawu ziphambili zomzimba ezinokubonwa:

• Iintshukumo ezingalawulekiyo ezifana nokungcangcazela okanye ukushukuma kwamalungu omzimba: Oku sikubiza ngokwezonyango ngokuba yi-chorea .
• Ukulahlekelwa kukulinganisela : Ubunzima bokuhamba okanye ukuma nkqo. Oku kubizwa ngokuba yi -ataxia .
• Ubunzima bokuhamba.
• Ukutya okanye ulweloUbunzima bokuginya: Oku kubizwa ngokuba yi-dysphagia .
• Intetho engacacanga.

Ezi mpawu zomzimba azibonakali ngequbuliso. Ziqala ngezinto ezincinci ekuqaleni. Cinga ngayo, ukuba nengxaki yokubamba ipeni ngokufanelekileyo, ukuwisa izinto rhoqo, ukulahlekelwa yibhalansi yakho. Kodwa ngokuhamba kwexesha, ezi mpawu zinokukhula kancinci kancinci.

Imiphumo engqondweni nakwiimvakalelo (iimpawu zengqondo)

Ukongeza kwiimpawu zomzimba, umntu onesifo sikaHuntington unokufumana utshintsho lwengqondo kunye nokuziphatha okufana noku:

• Utshintsho kwiimvakalelo: umsindo oqhelekileyo, ixhala, usizi ( ukudakumba ), ukucaphuka.
• Ubunzima bokukhumbula, ukunikel' ingqalelo, kunye nokwenza imisebenzi emininzi ngaxeshanye.
• Ubunzima bokufunda izinto ezintsha.
• Ubunzima bokwenza izigqibo kunye nokucinga ngendlela enengqondo.

Ekuqaleni, ezi mpawu zomzimba nezengqondo zisenokungabi nafuthe lingako kwimisebenzi yakho yemihla ngemihla. Nangona kunjalo, ngokuhamba kwexesha, ezi mpawu zinokwenza kube nzima ukusebenza ngokwahlukileyo.

Yintoni le nto yokungcangcazela kwamalungu omzimba (iChorea) ebonwa kwisifo sikaHuntington?

Enye yeempawu zokuqala zomzimba zesifo sikaHuntington yimeko ebizwa ngokuba yi-chorea . Oku kwenzeka xa amalungu omzimba eshukuma okanye eshukuma ngokungazikhetheli kwaye ngaphandle kolawulo lwethu. Ngokuqhelekileyo kuqala kuchaphazela izandla, iminwe, kunye nezihlunu zobuso. Kamva, iingalo, imilenze, kunye nomzimba ongaphezulu nazo ziqala ukuhamba ngokungalawulekiyo. I-Chorea inokwenza kube nzima ukuthetha, ukutya, nokuhamba. Ingachaphazela nemisebenzi yemihla ngemihla efana nokuqhuba.

Kutheni iSifo sikaHuntington senzeka? Yintoni unobangela?

Eyona nto ibangela isifo sikaHuntington kukutshintsha kwezakhi zofuzo zethu. Ngokuchanekileyo, sibangelwa kukuguquka kwezakhi zofuzo ezibizwa ngokuba yi-'HTT' . Le gene ye-'HTT' ivelisa iproteni ebizwa ngokuba yi-'Huntingtin protein' emizimbeni yethu. Le protein inceda iiseli zethu zemithambo-luvo '(iiNeurons)' ukuba zisebenze ngokufanelekileyo.

Nangona kunjalo, umntu onesifo sikaHuntington akanalo lonke ulwazi kwi-DNA yakhe lokwenza iproteni ye-huntingtin ngokufanelekileyo. Ngenxa yoko, iproteni yakhiwa ngendlela engafanelekanga, ikwimo engaqhelekanga, kwaye endaweni yokunceda iiseli zethu zemithambo-luvo , iqala ukuzitshabalalisa. Olu tshintsho lwemfuza lubangela ukuba iiseli zemithambo-luvo zife.

Oku kulahleka kweeseli zemithambo-luvo kwenzeka ikakhulu kwinxalenye yengqondo yethu ebizwa ngokuba yi-"Basal Ganglia" elawula intshukumo , nakwi- "Brain Cortex" elawula indlela esicinga ngayo, ukwenza izigqibo kunye nenkumbulo .

Ngaba esi sisifo esizuzwe njengelifa?

Ewe, utshintsho lwemfuza olubangela isifo sikaHuntington lunokufunyanwa njengelifa. Ukuba omnye wabazali bakho bemvelo une-genetic mutation, nawe unokufumana ifa layo. Oku kubizwa ngokuba yi-autosomal dominant pattern of inheritance . Kwimeko enjalo, ukuba omnye umzali unesifo, umntwana unethuba elingama-50% lokufumana esi sifo. Nangona kunjalo, kunqabile kakhulu, umntu unokuphuhlisa esi sifo nge-gene mutation entsha, nokuba akukho mntu kusapho lwakhe okhe waba nesi sifo ngaphambili.

Ngubani osengozini enkulu yokuhlaselwa sesi sifo?

Nangona nabani na enokuba nesifo sikaHuntington, usemngciphekweni omkhulu ukuba umntu okwintsapho yakho unesifo. Njengoko bekutshiwo ngaphambili, ukuba omnye wabazali bakho unesifo sikaHuntington, nawe unethuba lama-50% lokuba naso.

Ziziphi iingxaki ezinokubakho zeSifo sikaHuntington?

Isifo sikaHuntington sisifo esiqhubekayo, nto leyo ethetha ukuba iimpawu ziya zisiba mandundu ngokuhamba kwexesha . Iingxaki ezinokubakho ziquka:

• I-Dementia : Oku kuthetha ukuncipha kokusebenza kwengqondo, ukulahlekelwa yinkumbulo, kunye notshintsho olukhulu kubuntu.
• Ukulimala emzimbeni ngenxa yokunyakaza okungalawulekiyo okanye ukuwa.
• Ubunzima bokuginya ukutya bunokubangela ukuba umntu angakwazi ukutya nokusela ngokufanelekileyo, nto leyo enokubangela ukungondleki kakuhle .
• Ukungakwazi ukuhamba ngaphandle koncedo.
• Usulelo oluqhelekileyo, ingakumbi usulelo lwemiphunga olufana ne-pneumonia.

Abantwana abafumana isifo sikaHuntington besebancinci nabo banokuba nesifo sokuxhuzula .

Ungayixilonga njani ngokuchanekileyo le sifo? (Ukuxilongwa)

Ugqirha, ingakumbi ingcali yezifo zengqondo , angakuxelela ngokuqinisekileyo ukuba unesifo sikaHuntington. Uza kukuhlola aze akhangele iimpawu zokungcangcazela, ukungcangcazela, ukulinganisela, ukusabela okubonakalayo, kunye nokulungelelaniswa komzimba. Baza kubuza nokuba kukho nabani na kusapho lwakho onesifo. Kwiimeko ezininzi, kufuneka uvavanyo lwemfuza ukuqinisekisa ukuxilongwa.

Ukuze kuthintelwe ezinye iimeko ezibangela iimpawu ezifanayo kwaye kuqinisekiswe ukuba sisifo sikaHuntington, kwenziwa ezi mvavanyo zilandelayo:

• Uvavanyo lwegazi .
• Uvavanyo lweMfuzo.
• Uvavanyo lwemifanekiso yobuchopho: Umzekelo, `( MRI – Magnetic Resonance Imaging)` kunye `(I-CT scan – I-Computed Tomography scan).

Yintoni uvavanyo lwemfuza? Luyifumanisa njani le nto?

Uvavanyo lwemfuza luvavanyo lwegazi olukhangela utshintsho kwi-DNA yakho. Ugqirha wakho uza kuthatha isampuli yegazi kuwe aze ayithumele kwilebhu ukuze kuvavanywe i-DNA yakho. Olu vavanyo lunokukuxelela ngokuqinisekileyo ukuba unayo na i-HTT gene mutation ekhankanyiweyo apha ngasentla. Umcebisi wemfuza (umntu ochwephesha kuvavanyo lwemfuza) uza kukuchazela inkqubo kunye neziphumo.

Ugqirha wakho angacebisa ukuba amanye amalungu osapho enze olu vavanyo lwemfuza. Oku kuya kunceda ekuvavanyeni umngcipheko wokuba nesifo okanye ukuba nomntwana onesifo kwixesha elizayo.

Ngaba kunokwenzeka ukwazi ukuba unaso esi sifo ngaphambi kokuba kubonakale iimpawu?

Ewe, unako. Ukuba omnye wabazali bakho okanye abantakwenu unesifo sikaHuntington, nawe usemngciphekweni omkhulu wokuba naso. Uvavanyo lweGenetic oluQikelelweyo lunokukuxelela ukuba ngaba une-gene mutation ebangela isifo sikaHuntington ngaphambi kokuba kubonakale iimpawu .

Abantu basabela ngeendlela ezahlukeneyo kolu lwazi. Ukwazi ukuba une-gene kunokukunceda ucwangcise usapho lwakho kwaye wenze izigqibo zemali. Nangona kunjalo, kunokuba nzima ngokweemvakalelo, ingakumbi kuba esi sifo asinakuthintelwa. Ke ngoko, kubalulekile ukuxoxa nomcebisi wakho weze-genetic ukuba kungcono na ukuba uhlolwe ngaphambi kokuba kubonakale iimpawu.

Ziziphi iindlela zonyango zeSifo sikaHuntington?

Eyona nto iphambili kunyango lwesifo sikaHuntington kukwenza uzive ukhululekile kangangoko. Okwangoku akukho nyango lunokuthintela esi sifo, lulibazise ukuqala kweempawu, okanye luthintele. Ngenxa yokuba esi sifo sichaphazela impilo yakho yomzimba, yengqondo, neyeemvakalelo, unokufuna unyango olwahlukeneyo. Olu luquka:

• Unyango Lomzimba okanye Unyango Lomsebenzi.
• Unyango lokuthetha.
• Ingcebiso.
• Amayeza.

Ngawaphi amayeza anikwayo ukulawula iimpawu?

Ugqirha wakho unokukunika amayeza ahlukeneyo ngokuxhomekeke kwiimpawu zakho.

Amayeza adla ngokunikwa ukulawula i-chorea (ukuxhuzula) ngala:

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

Ukulawula iimpawu zeemvakalelo (ezifana nokutshintsha kweemvakalelo kunye nokudakumba), ugqirha wakho unokukunika amayeza anjengala:

• Amayeza okudakumba: Umzekelo, iFluoxetine kunye neSertraline.
• Amayeza okulwa nesifo sengqondo: Umzekelo, iRisperidone kunye neOlanzapine.
• Amayeza okuqinisa imood: Umzekelo, i-lithium.

Kubalulekile: Onke la mayeza anokubangela ezinye iziphumo ebezingalindelekanga. Umzekelo, unokufumana ukuqaqamba kwemisipha emva konyango lomzimba, okanye unokufumana ukudinwa okanye uxinzelelo lwegazi oluphantsi ngenxa yamayeza e-chorea. Ugqirha wakho uza kukuchazela konke oku ngaphambi kokuba uqale unyango, ukuze ukwazi ukwenza isigqibo esinolwazi.

Ngoobani iqela lezonyango eliza kukunceda?

Iqela lezonyango elikuncedayo ukujongana nesi sifo lingabandakanya iingcali ezifana nezi:

• Ugqirha ogxile kwingqondo nakwimithambo-luvo (i-Neurologist).
• Ingcali yezengqondo.
• Umcebisi wezeMvelo.
• Ingcali yezonyango zomzimba.
• Ingcali yoNyango loMsebenzi.
• Ingcali yokunyanga intetho.

Ngaba ikho indlela yokuthintela ukuba esi sifo singabikho?

Okwangoku akukho ndlela yokuthintela okanye yokunciphisa umngcipheko wokuba nesifo sikaHuntington. Nangona kunjalo, ukuba uceba ukuqala usapho, thetha nomcebisi wezemfuza kwaye ufunde ngovavanyo lwemfuza. Oku kunokukunceda uqonde umngcipheko wokuba nomntwana onesifo semfuza. Ngoku kunokwenzeka ukusebenzisa i-IVF (In Vitro Fertilization) kunye novavanyo lwemfuza ukuthintela abantwana bexesha elizayo ukuba bangafumani isifo sikaHuntington njengelifa.

Isifo sikaHuntington siba mandundu njani ngokuhamba kwexesha? (Amanqanaba esi sifo)

Isifo sikaHuntington sisifo esiba mandundu kancinci kancinci ngokuhamba kwexesha. Nangona oku kunokwahluka kumntu nomntu, kudla ngokuhamba ngamanqanaba alandelayo:

• Inqanaba lokuqala: Iimpawu azikho nzulu. Usenokuziva ungaphumli, udidekile, unobunzima bokucinga izinto ezinzima, kwaye unokuba neentshukumo ezincinci ezingalawulekiyo. Kodwa unokwenza imisebenzi yemihla ngemihla.
• Inqanaba eliphakathi:Utshintsho lomzimba nolwengqondo lunokwenza kube nzima kakhulu ukusebenza, ukuqhuba, nokwenza imisebenzi yasekhaya. Ukuginya kunokuba nzima, ngoko ke ukuthetha nokutya kunokuba ngumceli mngeni, kodwa akunakwenzeka. Kukho umngcipheko omkhulu wokuwa ngenxa yokulahlekelwa yibhalansi. Imisebenzi yobuqu efana nokuhlamba kunye nokunxiba isenokwenziwa.
• Inqanaba lokugqibela: Kunzima kakhulu ukwenza imisebenzi yemihla ngemihla wedwa. Abantu abaninzi abakwazi nokuvuka ebhedini ngaphandle koncedo. Kweli nqanaba, bafuna ukunyanyekelwa iiyure ezingama-24 ukuze batye, bahlambe, kwaye banyamekele impilo yabo.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Okwangoku akukho nyango lwesifo sikaHuntington. Nangona kunjalo, iimvavanyo zeklinikhi ( uvavanyo ebantwini) ziyaqhubeka ukuze kufundwe ngakumbi ngesi sifo kwaye kubonwe indlela unyango olutsha olunokunceda ngayo.

Ungaphila ixesha elingakanani nesi sifo?

Umyinge wobomi emva kokufunyaniswa unesifo sikaHuntington uphakathi kweminyaka eli-10 ukuya kwengama-30 .

Ngaba isifo sikaHuntington siyabulala?

Isifo sikaHuntington asibulali ngokuthe ngqo. Nangona kunjalo, ngokuhamba kwexesha, esi sifo sinokwenza kube nzima ukwenza imisebenzi yemihla ngemihla. Indlela esikhawuleza ngayo ukuba mandundu iyahluka ukusuka kumntu ukuya komnye. Nangona kunjalo, iingxaki zesi sifo, ezifana ne-pneumonia, okanye ukwenzakala ngenxa yokuwa, zinokukhokelela ekufeni.

Ndingaphila njani kakuhle nale meko? (Ukuzinyamekela)

Nokuba isifo sikaHuntington sibi kakhulu, zikho izinto onokuzenza ukuze ugcine ubomi bakho busemgangathweni ophezulu kangangoko. Nazi ezinye iingcebiso:

• Ukuzilolonga rhoqo: Uphando lubonise ukuba ukuzilolonga kukwenza uzive ungcono ngokubanzi.
• Yitya ukutya okunempilo: Ugqirha wakho unokucebisa utshintsho oluthile kwindlela otya ngayo. Iintshukumo ezingalawulwayo zinokutshisa ukuya kuthi ga kwiikhalori ezingama-5,000 ngosuku. Ke ngoko, ukutya okunesondlo kubalulekile.
• Sela amanzi amaninzi: Xa unengxaki yokuginya ukutya, kukho umngcipheko wokuphelelwa ngamanzi emzimbeni. Ke ngoko, oogqirha bacebisa ukuba uhlale unamanzi emzimbeni.
• Fumana iqela lenkxaso: Buza ugqirha wakho ngezixhobo zoluntu apho unokunxibelelana khona nabanye abantu abafana nawe.
• Iinkonzo zophando ngokhathalelo: Ngaxa lithile, usenokufuna iinkonzo zokhathalelo lwasekhaya okanye ukhathalelo lwasekhaya labalupheleyo. Yazi oku kwangaphambili.
• Chonga umcebisi othembekileyo: Njengoko isifo siqhubeka, kunokufuneka unike omnye umntu uxanduva lwezemali kunye nokwenza izigqibo. Esi sisigqibo esinzima kodwa esibalulekileyo. Lungisa ulindelo lwakho ngaphambi kokuba iimpawu zakho zenze kube nzima ukwenza izigqibo.

Khumbula, nangona isifo sikaHuntington singenakuthintelwa, ungazicwangcisela. Kungathatha iminyaka ukuba iimpawu zibe mandundu. Ngeli xesha, unexesha lokufumana oogqirha abathembekileyo kwaye ufumane inkxaso oyifunayo kwixesha elizayo. Ukuba wena okanye umntu kusapho lwakho unesifo sikaHuntington, thetha nomcebisi wezemfuza malunga noko kufuneka ukwazi.

Yeyiphi imibuzo omele uyibuze ugqirha wakho?

Ungabuza ugqirha imibuzo efana nale:

• Imeko yam iza kuba njani kwixesha elizayo? (Ingqikelelo)
• Loluphi unyango olucebisayo?
• Zithini iziphumo ebezingalindelekanga zonyango?
• Ndingaziphepha njani iingxaki?
• Ndingazilungiselela njani inqanaba lokugqibela lesifo sikaHuntington?
• Ungacebisa ukuba bonke abanye abantu basekhaya baye kuvavanyo lwemfuza?

Isifo sikaHuntington sinokwenza kube nzima kuwe ukuzinyamekela ngokuhamba kwexesha. Kunokuba nzima ukwazi ukuba wena okanye umntu omthandayo unesifo. Nangona kunjalo, ngenxa yokuba iimpawu zingathatha iminyaka ukuba zivele, unexesha lokulungiselela unyango olupheleleyo kunye nenkxaso. Nangona unokufuna ukwenza izigqibo ezibalulekileyo zexesha elide malunga nempilo yakho, akufanele ukhawuleze wenze ezi zigqibo eziya kuchaphazela ikamva lakho.

Kunokuba lula ukulahla ithemba xa uqonda indlela esi sifo esiza kukuchaphazela ngayo kwixesha elizayo. Kodwa awuwedwa. Abantu abaninzi bafumana intuthuzelo xa bethetha nomcebisi wezempilo yengqondo okanye bejoyina iqela lenkxaso. Kwaye uphando luyaqhubeka nokufunda okungakumbi malunga neendlela zonyango ezinokukunceda ukuphucula umgangatho wobomi bakho.

Umyalezo Wokuya Ekhaya:

Kulungile, ngoko ke, ngokwezinto esizithethileyo, kukho izinto ezimbalwa ekufuneka uzikhumbule ngokuqinisekileyo :

• Isifo sikaHuntington sisifo semfuza esonakalisa iiseli zobuchopho.
• Oku kubangela iintshukumo ezingalawulekiyo (i-chorea) kunye notshintsho lwengqondo .
• Nangona kungekho nyango lupheleleyo loku, kukho unyango lokulawula iimpawu nokwandisa intuthuzelo.
• Ukuba wena okanye umntu osapho lwakho ukrokrela ukuba unesi sifo, kubaluleke kakhulu ukufuna ingcebiso kagqirha kunye nengcebiso ngemfuza.
• Nangona ukuphila nesi sifo kunokuba nzima, ngokucwangcisa ngokufanelekileyo, inkxaso, kunye nokwazi, unokukwazi ukumelana naso ngamandla. Uphando malunga nonyango olutsha luyaqhubeka, ngoko ke hlala unethemba.

Ukuba ufuna ukwazi okungakumbi ngale nto, ungoyiki ukubuza ugqirha. Hlala usempilweni!