Uma uke wabona amabala anombala okhanyayo esikhumbeni sengane yakho noma uma ubhekene nokuxhuzula okungachazeki, kungokwemvelo ukuzizwa ukhathazekile. Lokhu kungaba ngezinye izikhathi izimpawu zesimo esibizwa ngokuthi i-Tuberous Sclerosis Complex (TSC), esingaxoxwa ngaso esidlangalaleni. Okokuqala nokubaluleke kakhulu, sicela ungesabi. Ngokuqonda kahle lesi simo, ungasiphatha ngempumelelo. Ake sixoxe ngakho konke okudingeka ukwazi ngamagama alula.
Iyini i-Tuberous Sclerosis Complex (TSC)?
Cabanga ngamaseli omzimba wakho njengezisebenzi ezikhuthele. Ayahlukana futhi akhule uma kudingeka, bese eyeka uma umsebenzi wawo usuqediwe. Kodwa-ke, kumuntu one-TSC, kukhona iphutha elincane enkambisweni elawula ukuhlukaniswa kwamaseli. Ngenxa yalokho, amaseli awayeki ukuhlukana lapho kufanele.
Uma amangqamuzana ehlukana ngokungalawuleki, kuholela ekukhuleni kwezimila ezingxenyeni ezahlukene zomzimba, njengobuchopho, izinso , inhliziyo , amaphaphu , isikhumba, namehlo. Into ebaluleke kakhulu okudingeka uyazi ukuthi lezi zimila azinawo umdlavuza . Kodwa-ke, zingadala izinkinga ezahlukene kuye ngokuthi zikhula kuphi. Izigidi zabantu emhlabeni jikelele ziphila nalesi simo. Ngenhlanhla, kunezindlela zokwelapha ezinhle kakhulu zesimanje ezitholakalayo namuhla zokuphatha izimpawu nokunciphisa lezi zimila.
Iyini imbangela yangempela ye-TSC?
Imbangela eyinhloko ukuguquka kwezakhi zofuzo . Lokhu kwenzeka ngenye yezindlela ezimbili:
1. Ukuguquka kwezakhi zofuzo okuzenzakalelayo: Kubantu abaningi (cishe izingxenye ezimbili kwezintathu zamacala), i-TSC ayizuzwa njengefa. Kwenzeka ngengozi ngesikhathi sokuqala kokukhula lapho amangqamuzana kamama nobaba ehlangana okokuqala ukuze akhe umbungu.
2. Ifa elivela kubazali: Cishe ingxenye eyodwa kwezintathu zamacala, lesi simo sidluliselwa kumzali. Uma omunye umzali ene-TSC, kunethuba elingu -50% lokuthi ingane yakhe izolizuza njengefa.
Ziyini izimpawu? Ingabe kuthinta wonke umuntu ngendlela efanayo?
Cha. Izimpawu ze-TSC ziyahlukahluka kakhulu kumuntu nomuntu futhi zingashintsha ngokuhamba kwesikhathi. Abanye abantu babonisa izimpawu lapho bezalwa, kanti abanye bangase baziveze kamuva ekuphileni. Izimpawu zincike ekutheni izimila zikuphi, ubukhulu bazo, kanye nenani lazo.
Ukuze sikusize uqonde, ake sibheke ukuthi kuthinta kanjani izingxenye ezahlukene zomzimba.
| Ingxenye Yomzimba Ethintekile | Izimpawu Ezingenzeka |
|---|---|
| Isikhumba | Lezi yizimpawu ezivame kakhulu. Ungase ubone amabala anombala okhanyayo (ama-macule anombala opinki), amaqhubu abomvu afana nama-acne ebusweni (ama-angiofibromas ebusweni), amabala esikhumba aqinile ebunzini, noma amahlumela amancane azungeze izinzipho. |
| Ubuchopho | Izimila ebuchosheni zivame ukuholela ekuqulekeniIzinguquko zokuziphatha (intukuthelo evamile, ukukhathazeka), izinkinga zokulala, ikhanda elibuhlungu, isicanucanu, kanye nokubambezeleka kokukhula njenge-autism kungase kwenzeke. |
| Izinso | Amathumba ezinso angaphazamisa ukusebenza kwawo. Lokhu kungaholela ekucindezelekeni kwegazi okuphezulu noma ukopha kwangaphakathi. |
| Inhliziyo | Izimila zenhliziyo zivame ukuvela ebuntwaneni futhi zivame ukuncipha njengoba iminyaka ikhula. Kodwa-ke, ngezinye izikhathi zingabangela ukungalingani kwe-heart rhythm (arrhythmias) noma zivimbele ukuhamba kwegazi. |
| Amaphaphu | Amathumba emaphashini angabangela ukuphelelwa umoya ngisho nangesikhathi sokuzivocavoca okuncane. Ukukhwehlela noma, ezimweni ezimbi kakhulu, iphaphu eliwile lingase livele. |
| Amehlo | Izimila zamehlo zingaholela ekuboneni okufiphele noma ekuboneni okukabili. |
Odokotela bakuthola kanjani lesi simo?
Ngenxa yokuthi izimpawu ziyahlukahluka kakhulu, ukuxilongwa kungaba nzima ngezinye izikhathi. Udokotela wakho cishe uzokwenza umlando ophelele ngokubuza imibuzo efana nalokhu:
- Yiluphi ushintsho lokuqala olubonile, futhi lwaqala nini?
- Ingabe wena noma ingane yakho nike nahlushwa yi-epilepsy ? Uma kunjalo, kwenzekani ngesikhathi se-epilepsy futhi ihlala isikhathi esingakanani?
- Uvame kangakanani ukuba nesifo sekhanda?
- Ingabe ukhona emndenini wakho onomlando wokuquleka noma i-TSC?
Ngemva kwalokho, udokotela wakho uzohlola isikhumba sakho namehlo akho futhi angakuthumela ukuze uthole olunye uvivinyo:
- I-CT Scan : Isebenzisa uchungechunge lwe-X-rays ukuthatha izithombe zangaphakathi ezinemininingwane, okusiza ukuthola izimila.
- I-MRI Scan : Inikeza izithombe ezicacile kakhulu, ezinemininingwane eminingi kune-CT scan, okuhlanganisa imibono yobuchopho kanye nokugeleza koketshezi. Ngezinye izikhathi, kusetshenziswa idayi yokuhlukanisa ukuze kucace kangcono.
- I-Echocardiogram: I-ultrasound yenhliziyo ukuthola izimila kanye neminye imikhakha yesakhiwo.
- Ukuhlolwa kofuzo: Ukuhlolwa kwegazi okungaqinisekisa ngokuqinisekile ukuba khona kwe-TSC.
Yiziphi izindlela zokwelapha?
Ukwelashwa kwenzelwe ngokwezimpawu zakho ezithile kanye nendawo yezimila. Umgomo oyinhloko wethimba lakho lezokwelapha ukulawula izimpawu ukuze kukusize uphile ngokunethezeka.
- Ngezinso: Imithi (njenge-everolimus) ingasetshenziswa ukuvimba ukutholakala kwegazi ezinhlamvini noma ukuzinciphisa. Ngezinye izikhathi kungase kudingeke ukuhlinzwa. Ezimweni ezimbi kakhulu, kungadingeka i-dialysis noma ukufakelwa kwezinso.
- Ebuchosheni: Amanye amathumba obuchopho angancishiswa ngemithi. Kukhona nemithi ethile etholakalayo yokulawula ukuquleka. Kwezinye izimo, kwenziwa ukuhlinzwa ukuze kususwe amathumba. Ukwelapha ukuquleka kwabantwana ngokushesha kubalulekile ekukhuleni kobuchopho kanye nekhono lokufunda.
- Kwamaphaphu:Kubantu abanezinkinga zamaphaphu, imithi yokucindezela amasosha omzimba njenge-sirolimus inganikezwa.
- Kwesikhumba: Amaqhubu nama-patches angelashwa futhi alungiswe kusetshenziswa i-laser therapy noma i-dermabrasion.
Into ebaluleke kakhulu ukugcina ukuxhumana okuvulekile nokuvamile nodokotela wakho ukuze wakhe uhlelo lokwelashwa oluqondene nawe olukusebenzelayo.
Ukuhlala ne-TSC
Ukuphila nesifo esingamahlalakhona kungaba yinselele ngokomzwelo, kodwa ngokuphathwa okufanele, ungaphila impilo eyanelisayo.
- Qaphela umzimba wakho: Naka noma yiziphi izinguquko ezintsha bese uxoxa ngazo nodokotela wakho ngokushesha. Thatha imithi yakho njengoba kuhleliwe futhi ungaphuthelwa ama-aphoyintimenti akho.
- Lungela izimo eziphuthumayo: Xoxa nodokotela wakho ngalokho okufanele ukwenze esimweni esiphuthumayo nokuthi kufanele uvakashele nini uMnyango Wezimo Eziphuthumayo (ED) .
- Vumela abantwana babe ngabantwana: Uma ingane yakho ine-TSC, khumbula ukuthi isengumntwana. Nikeza indawo lapho ingadlala khona, ifunde, futhi ijabule.
- Funa ukwesekwa: Yabelana ngohambo lwakho nomndeni nabangane futhi ubazise ukuthi bangakusekela kanjani kangcono.
- Inhlalakahle yengqondo: Kuvamile ukuzizwa ukhungathekile noma udabukile ngezinye izikhathi. Uma ubhekene nobunzima, ungangabazi ukufuna usizo kumeluleki noma uchwepheshe wezempilo yengqondo.
Nakuba kungekho ikhambi le-TSC okwamanje, ngokwelashwa nokuphathwa okufanele, abantu abaningi bangaphila impilo evamile futhi baphile impilo esebenzayo neyokuzimela.
Umlayezo Wokuya Nawe Ekhaya
- I-Tuberous Sclerosis Complex (TSC) yisimo sofuzo esibangela izimila ezingezona umdlavuza ezingxenyeni ezahlukene zomzimba.
- Izimpawu ziyahlukahluka kakhulu; amabala esikhumba, ukuxhuzula, kanye nokubambezeleka kokukhula kuvame ukubonwa.
- Nakuba okwamanje kungekho ikhambi, kunezindlela zokwelapha ezisebenzayo ezitholakalayo namuhla ezisiza ukulawula izimpawu, ukunciphisa amathumba, futhi zivumele impilo evamile.
- Uma ubona noma yiziphi izinguquko ezingavamile emzimbeni wakho noma emzimbeni wengane yakho, xhumana nodokotela wakho ngokushesha.
- Ngokunakekelwa kwezokwelapha okufanele kanye nokuphathwa, abantu abaningi abane-TSC bangaphila impilo esebenzayo, ezimele, neyanelisayo.
I-Tuberous Sclerosis Complex, i-TSC, ukuphazamiseka kwezakhi zofuzo, izimila zobuchopho, ukuquleka, amabala esikhumba, isifo sezinso, ukubuka konke kwe-TSC, izimpawu ze-TSC
