Kungenzeka ukuthi wesaba lapho ngokuzumayo ubona amabala ambalwa anombala okhanyayo emzimbeni wengane yakho. Noma kungenzeka ukuthi ukhathazekile ngesibonakaliso esifana nokuquleka okuvele ngaphandle kwesizathu. Lokhu ngezinye izikhathi kungaba izimpawu zesimo esingajwayelekile esibizwa ngokuthi i-Tuberous Sclerosis Complex (TSC). Okokuqala, ungesabi. Uma usuqonde kahle lokhu, ungaphila ngempumelelo nalesi simo. Ake sixoxe ngakho konke ngamagama alula.
Kalula nje, iyini i-Tuberous Sclerosis Complex (TSC)?
Cabanga ngale ndlela: amangqamuzana emizimbeni yethu afana nabasebenzi abasebenza. Ayahlukana futhi akhule lapho kudingeka, bese eyeka ukuhlukana lapho eseqedile. Kodwa kumuntu one-TSC, kunesici esincane enkambisweni elawula lokhu kuhlukana kwamangqamuzana. Ngakho-ke, esikhundleni sokuma lapho kufanele khona, amangqamuzana ayaqhubeka nokuhlukana.
Uma amangqamuzana ehlukana ngokungalawuleki ngale ndlela, izimila zakha izingxenye ezahlukene zomzimba, isibonelo, ebuchosheni, ezinso , enhliziyweni , emaphashini , esikhumbeni, namehlo. Into ebaluleke kakhulu okudingeka uyazi lapha ukuthi lezi zimila aziwona umdlavuza . Kodwa zingadala izinkinga ezahlukene kuye ngokuthi zakheka kuphi. Abantu abangaba yisigidi kuya kwezigidi ezimbili emhlabeni wonke baphila nalesi simo. Izindaba ezinhle ukuthi kunezindlela zokwelapha ezinhle namuhla zokulawula lezi zimpawu nokunciphisa izimila.
Iyini imbangela eqondile ye-TSC?
Isizathu esiyinhloko salokhu ushintsho (ukuguquka kwezakhi zofuzo) ezizakhini zethu zofuzo . Lokhu kungenzeka ngezindlela ezimbili.
1. Ushintsho olungavamile lwezakhi zofuzo: Kwabaningi, cishe izingxenye ezimbili kwezintathu, i-TSC ayizuzwa njengefa. Kungabangelwa ushintsho olungahleliwe lwezakhi zofuzo lapho amangqamuzana kamama nobaba ehlangana ukuze akhe umntwana, noma lapho umntwana ekhula njengombungu.
2. Ifa elivela kubazali: Cishe ingxenye eyodwa kwezintathu yabantu ithola lesi sifo kubazali bayo. Uma umzali oyedwa ene-TSC, ingane yakhe inethuba elingu-50% lokuthola lesi sifo.
Ziyini izimpawu? Ingabe ziyafana kuwo wonke umuntu?
Cha. Izimpawu ze-TSC ziyahlukahluka kakhulu kumuntu nomuntu. Futhi lezi zimpawu zingashintsha ngokuhamba kwesikhathi. Abanye abantu baqala ukukhombisa izimpawu cishe ngokushesha ngemva kokuzalwa. Kwabanye, zingase zivele kamuva ekuphileni. Izimpawu zincike endaweni, usayizi, kanye nenani lezimila.
Ukuze kube lula ukuqonda, ake sibone ukuthi lokhu kuzithinta kanjani izingxenye ezahlukene zomzimba.
| Ingxenye yomzimba ethintekile | Izimpawu ezingaba khona |
|---|---|
| Isikhumba | Lezi yizimpawu ezivame kakhulu. Ungase ubone izinto ezifana namabala anombala okhanyayo emzimbeni (ama-macule anombala opinki), amaqhubu abomvu, afana nama-acne ebusweni (ama-angiofibromas ebusweni), ama-patches esikhumba aqinile ebunzini, kanye namaqhubu amancane azungeze izinzipho. |
| Ubuchopho | Ukuquleka kuvamile ezimilanjeni zobuchopho. Izinguquko zokuziphatha (ukuqhuma njalo kwentukuthelo, ukukhathazeka), izinkinga zokulala, ikhanda elibuhlungu, isicanucanu, kanye nokubambezeleka kokukhula njenge-autism kungenzeka. |
| Izinso | Uma kwakheka izimila ezinso, ukusebenza kwazo kungaphazamiseka. Izimo ezifana nomfutho wegazi ophezulu kanye nokopha kwangaphakathi zingase zivele. |
| Inhliziyo | Izimila zenhliziyo zivame ukwakheka ebuntwaneni futhi zinciphe njengoba sikhula. Kodwa-ke, ngezinye izikhathi zingabangela ukushaya kwenhliziyo okungajwayelekile (ama-arrhythmia) noma ukuvinjelwa kokugeleza kwegazi. |
| Amaphaphu | Izimila zamaphaphu zingabangela ukuphelelwa umoya ngisho nangokuzivocavoca okulula. Ukukhwehlela noma ngisho nokuwa kwephaphu kungase kwenzeke. |
| Amehlo | Izimila ngaphakathi kwamehlo zingabangela ukubona okufiphele noma ukubona okukabili. |
Udokotela usithola kanjani lesi sifo ngqo?
Ngenxa yokuthi izimpawu zalesi sifo ziyahlukahluka kakhulu, ngezinye izikhathi kungaba nzima ukuxilonga. Udokotela wakho uzoqala akhulume nawe ngokucophelela futhi akubuze ngemininingwane. Isibonelo:
- Uyini umehluko wokuqala owubonile? Waqala nini?
- Ingabe wena noma ingane yakho nike nahlushwa yi-disorder ? Kwenzekani uma kwenzeka? Sekuyisikhathi esingakanani?
- Uvame kangakanani ukuba nekhanda elibuhlungu?
- Ingabe ukhona omunye emndenini onesifo sokuwa noma i-TSC?
Ngemva kwalokho, udokotela uzohlola isikhumba sakho namehlo akho bese ekuthumelela ezinye izivivinyo eziningana uma kudingeka.
- I-CT Scan : Uchungechunge lwe-X-ray lusetshenziswa ukuthatha izithombe ezinemininingwane zangaphakathi lomzimba. Lokhu kungasiza ekutholeni izimila.
- I-MRI Scan: Lokhu kungaveza izithombe ezicacile nezinemininingwane eminingi kune-CT scan. Kungabheka ngisho nokugeleza koketshezi ebuchosheni nasemgogodleni. Ngezinye izikhathi kufakwa udayi okhethekile ukuze izithombe zicace.
- I-Echocardiogram: Lokhu ukuhlolwa kwenhliziyo nge-ultrasound. Kungahlola izimila nezinye izinguquko enhliziyweni.
- Ukuhlolwa kwezakhi zofuzo: Lokhu kuhlolwa, okwenziwa kusampula yegazi, kungaqinisekisa ngokuqinisekile ukuthi une-TSC.
Yiziphi izindlela zokwelapha?
Ukwelashwa kuncike ezimpawu zakho kanye nendawo lapho izimila zikhona. Umgomo oyinhloko wodokotela ukulawula izimpawu zakho nokukusiza uphile impilo ekhululekile.
- Ngezinso: Imithi (njenge-`everolimus`) inikezwa ukuvimba ukugeleza kwegazi ezinhlamvini zezinso noma ukuzinciphisa. Ngezinye izikhathi izinhlayiya kungadingeka zisuswe ngokuhlinzwa. Ezimweni ezimbi kakhulu, kungadingeka i-dialysis noma ukufakelwa izinso.
- Ebuchosheni: Amanye amathumba ebuchosheni angenziwa abe mancane ngemithi. Kunemithi ekhethekile yokulawula ukuxhuzula. Amanye amathumba asuswa ngokuhlinzwa. Uma ukuxhuzula kwengane kwelashwa kusenesikhathi, kungasiza kakhulu ekukhuleni kobuchopho bayo kanye nekhono lokufunda.
- Emaphashini: Abanye abantu abanezinkinga zamaphaphu banikezwa imithi ethinta amasosha omzimba, njenge-sirolimus.
- Kwesikhumba: Amaqhubu esikhumba kanye nezibazi kungalungiswa ngezinto ezifana nokwelashwa nge-laser (dermabrasion) ngaphambi kokuba zibe zinkulu.
Into ebaluleke kakhulu ukuxhumana njalo nodokotela wakho ukuze bakwazi ukuthuthukisa uhlelo lokwelashwa olukufanele kakhulu.
Izinto okufanele uziqaphele uma uhlala ne-TSC
Ukuphila nesifo esingamahlalakhona esinjengalesi kungaba yinselele engqondweni, kodwa uma uphathwa kahle, ungaphila impilo ephumelelayo.
- Zinakekele: Nakisisa izinguquko emzimbeni wakho. Tshela udokotela wakho ngokushesha nganoma yiziphi izimpawu ezintsha. Thatha imithi yakho ngesikhathi futhi ungaphuthelwa yizikhathi zokubonana nodokotela wakho.
- Lungela isimo esiphuthumayo: Khuluma nodokotela wakho ukuze ucacise ukuthi yini okufanele uyenze esimweni esiphuthumayo nokuthi kufanele uye nini e-ETU (Emergency Treatment Unit) .
- Vumela ingane yakho ibe yingane: Uma ingane yakho ine-TSC, ungakhohlwa ukuthi isengumntwana. Dala indawo lapho ingadlala khona, ifunde, futhi ijabule.
- Ukusekelwa okuvela emndenini nakubangani: Khuluma nomndeni wakho nabangane abaseduze ngalesi simo. Babuze ukuthi bangakusiza kanjani.
- Impilo yengqondo: Kuvamile ukuzizwa ucindezelekile futhi udangele ngezinye izikhathi. Uma uzizwa ngale ndlela, ungangabazi ukufuna usizo kumeluleki.
Nakuba kungekho ukwelashwa okuphelele kwe-TSC, ngokwelashwa nokuphathwa okufanele, abantu abaningi abanalesi simo bangaphila impilo evamile, esebenzayo, nezimele.
Umlayezo Wokuya Nawe Ekhaya
- I-Tuberous Sclerosis Complex (TSC) yisimo sofuzo esibangela ukwakheka kwezimila ezingezona umdlavuza ezingxenyeni ezahlukene zomzimba.
- Izimpawu ziyahlukahluka kakhulu kumuntu nomuntu. Ukuqubuka kwesikhumba, ukuxhuzula, kanye nokubambezeleka kokukhula kuvamile.
- Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha ezisebenzayo namuhla ezingalawula izimpawu, zinciphise amathumba, futhi zikusize uphile impilo evamile.
- Uma ubona noma yiziphi izinguquko ezingavamile emzimbeni wakho noma wengane yakho, bona udokotela wakho ngokushesha ukuze uthole iseluleko.
- Ngokwelashwa nokuphathwa okufanele, abantu abaningi abane-TSC bangaphila impilo esebenzayo, ezimele, neyanelisayo.
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