Ngaba nawe awulali ebusuku? Ngaba uyajikajika iiyure ezininzi emva kokulala? Le yingxaki eqhelekileyo phakathi kwethu abaninzi. Kodwa, ngaba wakha wacinga ukuba olu hlobo lokungalali lunokuba luphawu lokuqala lwesifo esingaqhelekanga kakhulu esinokubangela ukufa? Ungakhathazeki, anditsho ukuba unaso esi sifo. Kuba esi sisifo esingaqhelekanga kakhulu emhlabeni. Kodwa kubaluleke kakhulu ukuqaphela oku. Ngoko ke namhlanje siza kuthetha ngesi sifo siyingozi nesingaqhelekanga kakhulu.
Yintoni iFatal Family Insomnia (FFI)?
Nangona igama elithi "Insomnia" livela egameni layo, i-FFI ayisiyongxaki yokulala.
I-FFI sisifo esingaqhelekanga semfuza esidluliselwa kwizizukulwana ngezizukulwana ngee-genes. Ngamafutshane, sisifo esibangelwa yiproteni engqondweni yethu eguqukayo kwaye yonakalise ingqondo. Esi sifo sinqabile kangangokuba iingcali zithi ngabantu abali-100 kuphela kwiintsapho ezingama-30 kwihlabathi liphela abaye baxelwa ukuba bane-gene ebangela esi sifo. Ngoko ke ukuba awukwazi ukulala, ithuba lokuba kungenxa ye-FFI lincinci kakhulu, malunga nesinye kwisigidi. Kukwakho nohlobo olungelulo lwemfuza lwesifo esifanayo, nto leyo ethetha ukuba senzeka ngequbuliso ngaphandle kwesizathu. Sibizwa ngokuba yi-Sporadic Fatal insomnia (sFI). Iingcali azikayazi kakuhle indlela esenzeka ngayo.
Kutheni esi sifo senzeka? Yintoni unobangela?
Eyona nto iphambili ebangela i-FFI kukuguquka kwejini ethi `PRPN` emzimbeni wethu. Le jini ilawula ukuveliswa kweproteni ebizwa ngokuba yi-`PrP`. Nangona umsebenzi ochanekileyo wale proteni ungekafunyanwa, ukuguqulwa kwejini kubangela ukuba le proteni yenziwe ngendlela engalunganga. Emva koko iba yityhefu emzimbeni wethu.
Khawucinge nje, ukuba endaweni yokufaka ibhola enemilo echanekileyo kumatshini, sifaka ibhola enemilo eyahlukileyo enezipikili, umatshini uya kubhajwa aze aphuke. Oku kwenzeka nalapha.
Ezi proteni zinobuthi, ezimile kakubi, ziqokelelana kancinci kancinci ebomini bethu kwinxalenye yengqondo ebizwa ngokuba
yi-thalamus . I-thalamus yindawo elawula izinto ezininzi ezibalulekileyo, ezinje ngokulala kwethu, ukutya, kunye nobushushu bomzimba. Ekuhambeni kwexesha, xa ezi proteni zinobuthi zonakalisa i-thalamus, umonakalo ubangela ukuba kuvele iimpawu ze-FFI. Olu tshintsho lwemfuza ludluliselwa kwizizukulwana ngendlela
elawulayo ye-autosomal . Oku kuthetha ukuba kufuneka ufumane ikopi enye ye-gene eguquliweyo kumama wakho okanye kutata wakho ukuze ufumane esi sifo.
Ukuba omnye wabazali bakho une-gene mutation, nawe unethuba lama-50% lokuyifumana. Zithini iimpawu zesi sifo?
Iimpawu ze-FFI zihlala ziqala ukubonakala
phakathi kweminyaka engama-40 ukuya kwengama-60 ubudala. Nangona ziqala zincinci kakhulu, ezi mpawu zinokuba nzima ngokukhawuleza. Makhe sijonge ukuba zeziphi ezi mpawu.
Iimpawu zokuqala Iimpawu ezenzeka emva kokuba isifo siqhubekile
| Uhlobo lwempawu | Ingcaciso |
|---|
| Ukungalali | Uphawu oluphambili noluqalayo kukuba ukungakwazi ukulala kuya kusiba mandundu ngokuhamba kwexesha. |
| Ukudideka kunye nobunzima bokugxila | Ukungakwazi ukukhumbula kakuhle nokucinga kakuhle ngenxa yomonakalo wengqondo. |
| Utshintsho lomzimba | Uxinzelelo lwegazi oluphezulu, ukubetha kwentliziyo ngokukhawuleza, ukwehla kobunzima ngendlela engaziwayo, ukubila kakhulu (iHyperhidrosis) , kunye nokungakwazi ukulawula ubushushu bomzimba. |
| Iingxaki ezibonakalayo namaphupha | Umbono ophindwe kabini kunye namaphupha acacileyo, angaqhelekanga nangona ungalali rhoqo. |
| I-Ataxia | Ukungakwazi ukulawula iintshukumo zomzimba, njengokugxadazela xa uhamba. |
| Iimpawu zengqondo | Ukubona izinto ezingabonakaliyo (Hallucinations), ukudideka kakhulu (Delirium). |
| Ubunzima bokuginya (i-Dysphagia) | Ukungakwazi ukuginya ukutya okanye ulwelo. |
Uninzi lwezi mpawu lubangelwa kukungakwazi ukulala kakuhle kunye nokonakala kwengqondo. Okubuhlungu kukuba, uninzi lwezigulana lufa ngenxa yokuhlaselwa yintliziyo okanye ezinye izifo ezisulelayo
kwiinyanga ezi-6 ukuya kwezingama-36 (iminyaka emi-3) emva kokuqala kweempawu.
Ugqirha uxilonga njani esi sifo?
Ukuba ugqirha wakho ukrokrela ukuba une-FFI, uza kwenza iimvavanyo ezininzi ukuqinisekisa oko.
- Ukubuza ngembali yezonyango zosapho: Ekubeni esi sisifo esibangelwa lufuzo, kubaluleke kakhulu ukufumanisa ukuba kukho nabani na kusapho oye waba neempawu ezifanayo.
- Uvavanyo lomzimba : Iimpawu zijongwa ngononophelo.
- Uvavanyo lwemfuza : Isampulu yegazi iyavavanywa ukuze kubonwe ukuba kukho utshintsho kwimfuza ye-'PRN'.
- Uphononongo Lokulala: Iipateni zokulala zijongwa ngezixhobo ezikhethekileyo esibhedlele.
- Uvavanyo lwe-Spine Fluid: Uvavanyo lwe-cerebrospinal fluid oluthathwe kwi -spinal cord .
Kwezinye iimeko, ukuba umntu uyafa ngaphambi kokuba isifo sifunyanwe, i-FFI inokuqinisekiswa ngokuhlola ubuchopho ngexesha lokuhlolwa kwesidumbu.
Zithini iindlela zonyango zoku?
Kubalulekile ukucacisa ngokucacileyo ukuba okwangoku akukho nyango lunokunyanga esi sifo ngokupheleleyo.
Unyango lwe-FFI lugxile ekulawuleni iimpawu kunye nokubonelela isigulana ngesiqabu kangangoko kunokwenzeka. Ngenxa yokuba sisifo esingaqhelekanga, akukho ndlela yonyango eqhelekileyo. Iqela leengcali zempilo, kuquka ingcali yezifo zengqondo kunye nengcali yezifo zengqondo, liya kusebenzisana ukumisela unyango olufanelekileyo lwesigulana. Unyango ludla ngokuquka:
- Ukubonelela ngeevithamini kunye nezondlo ezongezelelweyo.
- Ukubonelela ngokutya okunesondlo esifanelekileyo.
- Ukuba usebenzisa amanye amayeza abangela ukuba iimpawu zakho zibe mandundu, yeka okanye utshintshe .
- Ukunika amayeza athile okuthomalalisa okanye i-melatonin ukunceda ebuthongweni, njengoko ugqirha emyalele.
- Ukubonelela ngeengcebiso zokunceda abantu abanengxaki yengqondo.
Ukuthintela ukuba esi sifo singasasazeki kwamanye amalungu osapho kwixesha elizayo, ugqirha unokucebisa onke amalungu osapho ukuba enze uvavanyo lwemfuza.
Ndifanele ndimbone nini ugqirha?
Ndiyaphinda, ukuba unengxaki yokulala, amathuba okuba yi-FFI aphantsi kakhulu. Ngoko ke ungakhathazeki ngayo ngokungeyomfuneko.
Nangona kunjalo, ukuba unengxaki yokulala ixesha elide, okanye ukuba unezinye iimpawu ezifana nokudideka okanye ubunzima bokuhamba kunye nokungakwazi kwakho ukulala,
bona ugqirha wakho ngoko nangoko. Kuba ezo mpawu zisenokungabi yi-FFI, kodwa zinokuba luphawu lwenye imeko enokunyangwa. Ke ngoko, kubaluleke kakhulu ukufumana uxilongo olufanelekileyo kwaye ufune unyango olufunekayo.
Umyalezo Wokuya Ekhaya
- Isifo sokungalali kakuhle kweentsapho esibulalayo (i-FFI) asiyongxaki yokulala eqhelekileyo. Sisifo esingaqhelekanga kakhulu, esibulalayo esichaphazela ubuchopho.
- Nokuba unengxaki yokulala, amathuba okuba yi-FFI aphantsi kakhulu, ngoko ke ungoyiki ngokungeyomfuneko.
- Uphawu oluphambili lwesi sifo kukungalali kakuhle, oluya lusiba mandundu ngokuhamba kwexesha. Ukongeza , iimpawu zemithambo-luvo ezifana nokuphazamiseka kwentshukumo kunye nokudideka nazo ziyenzeka.
- Ukuba kukho umntu kusapho lwakho one-FFI kwaye unengxaki yokulala, funa ingcebiso kagqirha ngokukhawuleza.
- Ukuba uneengxaki zokulala ixesha elide okanye ezinye iimpawu ezinxulumene noko, qiniseka ukuba ubona ugqirha wakho ukuze aqinisekise ukuba akukho ezinye izifo ezinokunyangwa.
Ukungalali Kosapho Okubulalayo, i-FFI, ukungalali, izifo zemfuza, isifo se-prion, iingxaki zokulala, izifo zobuchopho
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