Ngaba kukho umntu kusapho lwakho okanye umntu omaziyo oqale ukwenza izinto ngendlela engaqhelekanga? Mhlawumbi amalungu omzimba akhe ayashukuma ngokungalawulekiyo? Okanye ngaba inkumbulo yakhe iyaphela kancinci, kwaye kubonakala ngathi ulahlekelwa ngamandla akhe angaphambili? Kuqhelekile ukuziva usoyika xa sibona izinto ezinje. Namhlanje siza kuthetha ngemeko enokubangela ezi mpawu, kodwa engathethwa kakhulu ngayo kuluntu. Esi sisifo sikaHuntington . Musa ukoyika xa usiva eli gama. Masithethe ngayo yonke into ngokulula nangokucacileyo.
Kulungile, ngoko ke yintoni iSifo sikaHuntington?
Ngamafutshane, isifo sikaHuntington sisifo semfuza esibangela ukuba iiseli zemithambo-luvo ezikwingqondo yethu zife kancinci kancinci ngokuhamba kwexesha, kwaye sidluliselwa kwizizukulwana ngezizukulwana . Sichaphazela kakhulu iindawo zengqondo ezilawula iintshukumo zethu, ukucinga kunye nokuziphatha kwethu.
Oku kukhokelela ekwehleni kwezakhono zokunyakaza, ukucinga kunye nokwenza izigqibo ngokuhamba kwexesha, kunye nomngcipheko okhulayo wokufumana iingxaki zempilo yengqondo ezifana nokudakumba kunye noxinzelelo.
Ngokwesiqhelo, ezi mpawu ziqala ukubonakala phakathi kweminyaka engama-30 ukuya kwengama-40. Nangona kunjalo, ngamanye amaxesha esi sifo sinokuqala ebuntwaneni okanye ebusheni, oko kukuthi, ngaphambi kweminyaka engama-20. Kwimeko enjalo, sibiza ngokuba yiJuvenile Huntington 's Disease (JHD) .
Okwangoku akukho nyango lwesifo sikaHuntington. Kodwa ungakhathazeki. Kukho unyango oluninzi olusebenzayo lokunceda ukulawula iimpawu kunye nokunciphisa ukungonwabi ezibangelayo. Kwaye zininzi izinto onokuzenza ukuze uphile ubomi obungcono ngale meko.
Kutheni esi sifo sisenzeka? Sifunyanwa njani njengelifa?
Oku kubangelwa sisiphene kwenye yezakhi zofuzo zethu. Ngo-1993, izazinzulu zafumanisa i-gene ebangela oku. Le gene ikhona kuthi sonke. Nangona kunjalo, ezinye iintsapho zinokuba nekopi eguquliweyo yale gene. Elo gene liguquliweyo lidluliselwa kubazali ukuya ebantwaneni.
Khawucinge ukuba umama wakho okanye utata wakho unesifo sikaHuntington. Ukuba kunjalo, unethuba elingama-50% lokufumana utshintsho olubangela esi sifo. Kufana nokuphosa ingqekembe. Usenokuyifumana okanye ungayifumani.
- Le gene eguqukileyo inokufunyanwa njengelifa kungakhathaliseki ukuba isini sini na.
- Ukuba awunayo i-gene eguquliweyo, awusoze ube nesifo sikaHuntington. Kwaye awuyi kusidlulisela esi sifo kubantwana bakho.
- Esi sifo asidluli izizukulwana . Oko kukuthi, ukuba utata unaso, unyana akanakukwazi ukusifumana ngaphandle kukayise.
Ingaba le gene inamandla okanye inamandla?
Kulula kakhulu. Khawuthelekelele ukuba unezakhi zofuzo ezimbini, enye ivela kumama wakho kwaye enye ivela kutata wakho. Izakhi zofuzo 'ezilawulayo' zifana nomntwana okrelekrele kakhulu eklasini. Ukuba ukhona, amandla akhe ayadlala. Izakhi zofuzo eziguqulayo ezibangela isifo sikaHuntington nazo zilawulayo . Ngoko ke nokuba ufumana izakhi zofuzo eziguqulayo kumzali omnye kuphela, kwanele ukubangela eso sifo.
Ukuba wena okanye umntu osapho lwakho ucinga ngovavanyo lwemfuza, kubalulekile ukuba uqale ufune iingcebiso ngemfuza. Banokukuchazela into omawuyilindele kwiziphumo zovavanyo.
Zithini iimpawu zesifo sikaHuntington?
Iimpawu zesifo sikaHuntington zingahlulwahlulwa zibe ziindidi ezintathu eziphambili: izakhono zokunyakaza, ukusebenza kwengqondo, kunye nokuziphatha . Ezi mpawu azisoloko zibonakala ngaxeshanye, kodwa zikhula kancinci kancinci emva kwamanqanaba aliqela.
| Uhlobo lwempawu | Iimpawu zeSigaba sokuqala | Iimpawu zeSigaba esiPhakathi |
|---|---|---|
| Injini | Iintshukumo ezingalawulekiyo zobuso, iingalo, nemilenze (chorea) . Ukungonwabi, ukulahlekelwa yibhalansi. Ukucotha kweentshukumo zamehlo. | (chorea) imeko emandundu. Ubunzima bokuhamba. Ukuwisa izinto, ukurhuqa rhoqo. Ubunzima bokuthetha nokuginya. |
| Amandla okucinga (Ukuqonda) | Ubunzima bokwenza izinto ezininzi ngexesha elinye. Ukulibala izinto (umz. amadinga). Ubunzima bokufunda izinto ezintsha. Ubunzima bokwenza izigqibo. | Ukudideka okungakumbi. Ukulahlekelwa yinkumbulo okungakumbi. Ukungakwazi ukucinga kuyancitshiswa ngokucacileyo. Ukungakwazi ukuhlela izinto. |
| Ukuziphatha kunye neNgqondo | Ukudakumba, ixhala. Ukucinga okanye ukuthetha into enye rhoqo. Ukucaphuka msinya. Ukungalali nokulahlekelwa ngamandla omzimba. | Utshintsho olukhulu kubuntu. Iingcinga zokufa okanye ukuzibulala. Ukwehla kobunzima. Ukuvela kweemeko ezifana (OCD) okanye (Bipolar disorder) . |
Iimpawu zeSigaba sokuGqibela
Kule nqanaba, isigulana sifuna uncedo kwabanye ukuze senze imisebenzi. Ukuhamba nokuthetha kunokuyeka ngokupheleleyo. Nangona kunjalo, kwanakweli nqanaba, isigulana sidla ngokukwazi ukubona abantu esibathandayo.
Indlela yokuxilonga esi sifo?
Ukuba uneempawu, ugqirha wakho uza kubuza ngembali yempilo yosapho lwakho aze enze uvavanyo lomzimba. Emva koko baya kuyalela uvavanyo lwemithambo-luvo kunye novavanyo lwemfuza. Uvavanyo lwemithambo-luvo lukhangela oku kulandelayo:
- Ukucamngca
- Amandla emisipha
- Ibhalansi
- Umbono nokuva
- Isimo sengqondo kunye nemeko yengqondo
- Inkumbulo kunye nokukwazi ukuqiqa
Okukhona isifo sifunyanwa ngokukhawuleza, kokukhona kulula ukugcina ubomi obusemgangathweni ixesha elide. Unokufumana ithuba lokuthatha inxaxheba kuphando olutsha kunye novavanyo lweklinikhi.
Iindlela zonyango kunye nolawulo
Nangona kungekho nyango lupheleleyo loku, zininzi iindlela zonyango ezinokulawula iimpawu kwaye zenze ubomi bube lula. Akuyonto ingenamsebenzi ukuba oogqirha bathi, "Asinakongeza iminyaka ebomini bakho, kodwa sinokongeza ubomi kwiminyaka yakho."
Eyona nto ibalulekileyo kukufuna uncedo kwiqela leengcali ezivela kwiinkalo ezahlukeneyo. Eli qela lingabandakanya iingcali zemithambo-luvo, iingcali ze-physical therapists, iingcali ze-occupational therapists, iingcali ze-speech, iingcali ze-psychiatrists, kunye neengcali ze-nutrition.
Amayeza
- Ukulawula intshukumo:Amayeza avela kudidi lwe -VMAT2 inhibitor (umz. iDeutetrabenazine, iTetrabenazine) asetyenziselwa ukunciphisa iintshukumo ezingalawulekiyo (i-chorea).
- Kwiingxaki zempilo yengqondo: Kukho amayeza ahlukeneyo okudakumba kunye nezinto ezizinzisa iimvakalelo ukulawula ukudakumba, ixhala, kunye nokunye ukutshintsha kweemvakalelo.
Unyango
- Unyango Lomzimba: Lunceda ekunciphiseni ukuwa ngokuphucula ukuhamba, ibhalansi, kunye namandla omzimba.
- Unyango Lomsebenzi: Ufundisa iindlela kunye nezixhobo zokwenza imisebenzi yemihla ngemihla efana nokutya nokunxiba kube lula.
- Unyango lokuthetha: Lunceda ekuthetheni nasekuginyeni ubunzima.
Utshintsho kwindlela yokuphila kunye nokutya
Abantu abanesi sifo banokunciphisa umzimba kuba imizimba yabo itshisa iikhalori ezininzi kwaye kunzima ukuginya. Ngoko ke, kubalulekile ukutya ukutya okunesondlo, okuneekhalori eziphezulu . Amalungu osapho anokunceda ngale nto ngokuthi:
- Kuphephe ukuphazamiseka okungeyomfuneko ngexesha lokutya.
- Khetha ukutya okulula ukukuhlafuna nokukuginya.
- Sebenzisa izixhobo zokusela ezenziwe ngokukodwa kunye neekomityi ezineengca.
- Ukuzilolonga rhoqo nako kubaluleke kakhulu. Kodwa kufuneka uqaphele ngokhuseleko. Thetha nogqirha onamava kwaye wenze isicwangciso sokuzilolonga esikufaneleyo.
Imibuzo omele uyibuze ugqirha wakho
Ukuba wena okanye ilungu losapho likhathazekile ngale meko, ungabuza le mibuzo xa uthetha nogqirha wakho:
- Gqirha, esi sifo siza kuyichaphazela njani ubomi bam?
- Zeziphi iindlela zonyango ezilungileyo zokuthintela iimpawu zam?
- Ngaba olu nyango lunokungqubana namanye amayeza endiwasebenzisayo?
- Ingaba kukhuselekile ukuba ndiqhubeke nokuqhuba?
- Ndingathetha njani nosapho lwam ngale nto?
Umyalezo Wokuya Ekhaya
- Isifo sikaHuntington sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana. Ukuba umzali unesi sifo, kukho amathuba angama-50% okuba umntwana asifumane njengelifa.
- Nangona okwangoku kungekho nyango lupheleleyo loku, kukho unyango olusebenzayo kakhulu lokulawula iimpawu kunye nokuphucula umgangatho wobomi.
- Ukufunyanwa kwangoko kubalulekile, njengoko iimpawu zinokulawulwa ngcono.
- Kubalulekile ukwakha inkqubo eqinileyo yenkxaso equka oogqirha abaziingcali, iingcali zonyango, kunye namalungu osapho.
- Iingxaki zengqondo ezifana nokudakumba kunye noxinzelelo zinokwenzeka rhoqo kwesi sifo, kwaye ukunyanga kwazo kubaluleke kakhulu njengokunyanga iimpawu zomzimba.
- Uphando olutsha luqhutywa rhoqo ngalo mba, ngoko ke hlala unethemba. Hlala unxibelelana nogqirha wakho.
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