Ingabe ingane yakho encane inebala elikhulu elinsomi ebusweni bayo? Ingabe kungaba yiSturge-Weber Syndrome?

Ungase ukhathazeke kancane uma ubona indawo enkulu, eyisicaba, epinki kuya komnyama onsomi ohlangothini olulodwa lobuso bomntwana wakho osanda kuzalwa, mhlawumbe ebunzini noma ngaphezulu kwamehlo. Esikhathini esiningi, lezi yizimpawu zokuzalwa ezivamile. Kodwa, akuvamile kakhulu, indawo efana nale ingaba uphawu lwesimo sofuzo esibizwa ngokuthi i-Sturge-Weber Syndrome . Ake sixoxe ngalokhu ngokuningiliziwe namuhla, akunjalo? Ungesabi, into ebalulekile ukuqaphela lokhu.

Iyini i-Sturge-Weber Syndrome?

Kalula nje, i-Sturge-Weber Syndrome yisimo sofuzo esithinta indlela imithambo yegazi ebuchosheni, esikhumbeni, namehlo engane yakho ekhula ngayo. Ivame ukubonakala ekuzalweni.

Isibonakaliso sokuqala nesisobala kakhulu salesi simo uphawu lokuzalwa esikhulume ngalo ekuqaleni , ibala lewayini le-port . Leli bala eliyisicaba, elipinki kuya kophuzi omnyama (noma elimnyama kunombala wesikhumba wemvelo womntwana) ebusweni besikhumba. Lithola igama lalo ngoba lifana nombala ongashiywa yiwayini elincane esikhumbeni. Leli bala livame ukubonakala kolunye uhlangothi lobuso bomntwana, ikakhulukazi ebunzini nangaphezu kwejwabu leso.

Kodwa-ke, izimpawu zokuzalwa zivame kakhulu. Ngakho-ke, akuzona zonke izingane ezine-port wine stain ezine-Sturge-Weber Syndrome. Ezinye izingane zingase zibe naleli phuzu kuphela, ngaphandle kwezinye izimpawu ezengeziwe.

Kodwa-ke, uma ingane yakho izalwa inalolu hlobo lophawu lokuzalwa, odokotela bazohlola imithambo yegazi yobuchopho bengane ngokushesha nje lapho izalwa ukuze babone ukuthi kukhona yini olunye ushintsho. Lokhu kungenxa yokuthi uma kunenkinga ngemithambo yegazi ebuchosheni, ingathinta ukugeleza kwegazi ebuchosheni futhi ibangele izinto ezifana nokuxhuzula . Lesi simo (i-Sturge-Weber Syndrome) asisongeli impilo. Kodwa-ke, uma singelashwa, singathinta ikhwalithi yokuphila kwengane. Yingakho kubalulekile ukuqaphela lokhu futhi uthathe izinyathelo ezidingekayo.

Ziyini izimpawu ze-Sturge-Weber Syndrome?

Kunezimpawu ezintathu eziyinhloko ze-Sturge-Weber Syndrome. Ake sibone ukuthi ziyini:

• (Ibala lewayini elimboziwe) Uphawu lokuzalwa: Lolu uphawu oluyinhloko noluqala ukubonakala. Lolu iqoqo lemithambo yegazi eqoqene esikhumbeni sengane. Luvame ukubonakala ebunzini nangaphezu kwamehlo. Ngokuhamba kwesikhathi, isikhumba lapho leli phuzu likhona singase sijiye futhi sibe mnyama ngombala.

• I-Glaucoma: Lesi yisimo lapho uketshezi luqongelela ngaphakathi kweso, okubangela ukucindezeleka. Kufana nokugcwala kwebhaluni ngamanzi bese kuyenza iqine. Lokhu kungalimaza ukubona kwakho, ngakho-ke udinga ukuqaphela nalokhu. Inani elikhulu lezingane ezine-Sturge-Weber Syndrome zingase zibe nalesi simo.

• Ama-angioma e-leptomeningeal:Leli igama eliyinkimbinkimbi kancane, akunjalo? Kalula nje, libhekisela emithanjeni yegazi engajwayelekile (ebizwa ngokuthi ama-angioma) eyakheka ezimbozweni ezimboza ubuchopho kanye nomgogodla (okuthiwa ama-leptomeninges). Le mithambo yegazi engajwayelekile ingavimba ukugeleza kwegazi ezingxenyeni zobuchopho. Izingxenye zobuchopho ezithintekile zingabangela ukuxhuzula kanye nobuthakathaka ohlangothini olulodwa lomzimba (hemiparesis) .

Uma ingane yakho inesifo sokuwa, singaqala phakathi nonyaka wayo wokuqala, ngokuvamile ngaphambi kosuku lwayo lwesibili lokuzalwa. Ngokuvamile, izimpawu zokuwa zithinta uhlangothi olulodwa lomzimba kuphela. Ibala lewayini elibomvu lingase libe mnyama njengoba isifo sokuwa siqhubeka. Lokhu kuvamile, ngakho ungakhathazeki ngakho.

Ngaphezu kwalezi zimpawu eziyinhloko, kunezinye izimpawu ongase uzibone. Kubalulekile ukukhumbula ukuthi akuwona wonke umuntu ozobhekana nazo zonke lezi zimpawu.

• Ukulibaziseka kokukhula: Lokhu kusho ukuthi ingane yephuza ukuthuthukisa amakhono afanele iminyaka njengokukhuluma, ukuhamba, nokudlala nezinye izingane.
• I-Hypothyroidism: Lokhu kungalibazisa izinqubo eziningi zomzimba, okubangela ukukhathala nokuqunjelwa.
• Ukukhubazeka kwengqondo: Izinto ezifana nobunzima bokufunda kanye nekhono lokuqonda elinciphile.
• Ubuhlungu bekhanda noma i-migraine: Ubuhlungu bekhanda obuvamile.

Kodwa khumbula, akuzona zonke lezi zimpawu ezenzeka kuyo yonke ingane. Zingahluka kusuka komunye umntwana kuya komunye. Ezinye izingane zingase zibe nokuqubuka kuphela, kanti ezinye zingase zibe nokuqubuka kanye nokuqina.

Yini ebangela i-Sturge-Weber Syndrome?

Lokhu kungenxa yohlobo lwezakhi zofuzo ku-gene ebizwa ngokuthi (i-CNAQ). Le gene inesibopho sokulawula ukwakheka nokusebenza kwemithambo yegazi emzimbeni wethu. Njengoba nje iresiphi ingenakulungiselelwa kahle uma kukhona iphutha, noshintsho lungaba khona kulesi sakhi sofuzo. Ngenxa yalokho, imithambo yegazi ayakheki kahle ngenkathi umntwana esesesibelethweni.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Lona umbuzo abazali abaningi abanawo. Cha, i-Sturge-Weber Syndrome akuyona into ezuzwa njengefa. Kuyinto eyenzeka ngokungahleliwe, okungukuthi, ngaphandle kwesizathu esithile (ngezikhathi ezithile). Lokhu kusho ukuthi noma ubani angazalwa enalesi simo. Ungacabangi ukuthi kwenzeke ngenxa yento oyenzile noma oyishilo.

Lolu shintsho lwezakhi zofuzo lwenzeka kumaseli omzimba – okungukuthi, aluthinti amangqamuzana ocansi (amaseli amaqanda kanye nesidoda) sikamama nobaba. Lolu shintsho lwenzeka ekuqaleni kakhulu kokukhula kombungu. Amanye amangqamuzana angase abe nalolu shintsho lwezakhi zofuzo, kanti amanye angase angabi nalo (lokhu kubizwa ngokuthi i-mosaicism). Yingakho eminye imithambo yegazi yakheka kahle, kanti eminye ayibi nalo.

Yiziphi izinkinga ezingaba khona ze-Sturge-Weber Syndrome?

Ngenxa ye-leptomeningeal angiomas esikhulume ngayo, okuyimithambo yegazi engajwayelekile ebuchosheni, kungase kube nengozi eyengeziwe yezinkinga ezithile. Lokhu kufaka phakathi:

• Ukwakheka kwe-calcium: Lokhu kuwukuqongelela kwe-calcium emithanjeni yegazi . Lokhu kungabonakala kuma-X-ray obuchopho.
• Ukulahlekelwa/ukubhujiswa kwezicubu zobuchopho (Atrophy): Ngokuhamba kwesikhathi, ezinye izingxenye zobuchopho zingase zinciphe.
• Ukukhubazeka: Ukulahlekelwa amandla ohlangothini olulodwa lomzimba.
• Isifo sohlangothi: Isimo esibi esibangelwa ukuvaleka noma ukuqhekeka komthambo wegazi ohambisa igazi ebuchosheni.

Lezi zinkinga azenzeki kuwo wonke umuntu, kodwa kubalulekile ukuziqaphela.

Wazi kanjani ukuthi une-Sturge-Weber Syndrome?

Udokotela uzonquma ukuthi ingane yakho ine-Sturge-Weber Syndrome ngemva kokuzalwa kwayo. Ungase ubone nebala le-port-wine esikhumbeni sengane yakho. Udokotela uzolibheka ngesikhathi sokuhlolwa kokuqala komzimba kwengane yakho. Ngemuva kwalokho, kuzokwenziwa ukuhlolwa kwezinzwa kanye nokunye ukuhlolwa ukuze kubhekwe ukukhubazeka emithanjeni yegazi okuthinta amehlo nobuchopho. Lokhu kuhlolwa kungafaka:

• Iskena se-MRI (Magnetic Resonance Imaging): Lokhu kungathatha izithombe ezinemininingwane zobuchopho nemithambo yegazi. Lokhu kubaluleke kakhulu ukuthola ukuthi zikhona yini (ama-leptomeningeal angiomas).
• Ukuskena kwe-CT (Computed Tomography): Lokhu futhi kuthatha izithombe zobuchopho, ikakhulukazi ukuze kubonakale ukuthi kukhona yini i-calcium.
• Ukuhlolwa kwe-EEG (i-Electroencephalogram): Lokhu kulinganisa umsebenzi kagesi wobuchopho. Uma kwenzeka ukuxhuzula, kungasiza ekutholeni ukuthi yini ebangela lokhu nokuthi kuqala kuphi ebuchosheni.
• Ukuhlolwa kwamehlo: Lokhu kubalulekile ukuhlola i-glaucoma kanye nomfutho wamehlo.

Odokotela bathola ukuxilongwa okunembile ngokusekelwe olwazini olutholwe kulezi zivivinyo.

Yiziphi izindlela zokwelapha i-Sturge-Weber Syndrome?

Ukwelashwa kwalesi simo kuhloswe kakhulu ukulawula izimpawu. Lokhu kusho ukuthi alikho ikhambi okwamanje, kodwa kunezindlela eziningi zokwelapha ezingasiza ukulawula izimpawu futhi zisize ingane iphile impilo engcono. Lokhu kungafaka:

• Imithi yokuvimbela ukuquleka noma ngezinye izikhathi ukuhlinzwa kusetshenziswa ukulawula ukuquleka. Izingane eziningi zingalawula ukuquleka kwazo ngemithi.
• Amaconsi amehlo noma ukuhlinzwa kwe-glaucoma okwenziwa ngomuthi kusiza ekunciphiseni ukucindezeleka kwamehlo.
• Ukulungisa isikhumba nge-laser kunganciphisa ukubonakala kwebala lewayini elibomvu. Nakuba lokhu kungeke kususe ngokuphelele ibala, kunganciphisa umbala walo futhi kushintshe ukubukeka kwalo ngezinga elithile.
• Ukwelashwa ngokomzimba kobuthakathaka bemisipha. Uma kukhona ubuthakathaka ohlangothini olulodwa lomzimba, lokhu kungasiza ekuqiniseni leyo misipha futhi kwenze ukunyakaza kube lula.
• Izifundo zemfundo ekhethekile ziyatholakala ezinganeni ezinenkinga yokukhula noma ezikhubazekile ngokwengqondo. Lezi zibaluleke kakhulu ekuthuthukiseni amakhono azo.

Odokotela bangase batuse ukuthi abantu abadala abane-Sturge-Weber Syndrome bathathe i-aspirin ephansi nsuku zonke ukuze banciphise ingozi yokushaywa yisifo sohlangothi kanye nezimpawu ezihlobene naso. Kodwa-ke, unganiki izingane ezincane i-aspirin ngaphandle kweseluleko sikadokotela. Kungaba yingozi.

Ukwelashwa kuyahlukahluka kuye ngomuntu nomuntu. Udokotela wengane yakho uzokutshela ukuthi yiziphi izindlela zokwelapha abazincomayo nokuthi yimiphi imiphumela emibi yalezo zindlela zokwelapha, ukuze ukwazi ukwenza izinqumo ezinolwazi mayelana nempilo yengane yakho.

Liyoba njani ikusasa lengane ene-Sturge-Weber Syndrome?

Udokotela wengane yakho angakutshela kangcono ngesimo sayo. Endabeni ye-Sturge-Weber Syndrome, izinga lomonakalo wobuchopho lingasiza udokotela wakho ukuthi anqume ukuthi ingane yakho izobhekana kanjani nalesi sifo. Isibonelo, uma ingane yakho iqala ukuba nesifo sokuwa ngaphambi kweminyaka engu-2, kungenzeka kakhulu ukuthi ibe nokubambezeleka kokukhula noma ukukhubazeka kwengqondo. Kodwa-ke, lokhu akunjalo kubo bonke abantwana.

Ingane yakho kuzodingeka ihlale ixhumene nethimba layo lezokwelapha impilo yayo yonke ukuze ilawule izimpawu. Ingase ibone udokotela wezinzwa uma kufaneleka, kanye nodokotela wamehlo ukuze kuhlolwe umbono minyaka yonke.

Ingabe kukhona umthelela empilweni yokuphila?

Lokhu kuyinkinga kubazali abaningi. I-Sturge-Weber Syndrome ngokuvamile ayithinti impilo yengane. Kodwa-ke, izimpawu zingathinta ikhwalithi yempilo yengane, ngakho-ke ukwelashwa nokunakekelwa ngudokotela kuzodingeka kukho konke ukuphila kwayo. Njengoba ubucayi balesi simo buhlukahluka kumuntu nomuntu, udokotela wengane yakho uzochaza ukuthi yini okufanele uyilindele nokuthi yini okufanele uyiqaphele.

Ingabe i-Sturge-Weber Syndrome ingavinjelwa?

Njengoba sishilo ngaphambili, ukuguquka kwezakhi zofuzo okubangela i-Sturge-Weber Syndrome kwenzeka ngokungahleliwe, ngaphandle kwesizathu esibonakalayo. Ngakho-ke, okwamanje ayikho indlela eqinisekisiwe yokukuvimbela. Lokhu akuyona into eyenzeka ngephutha lomuntu.

Kungenzeka yini ukuphila impilo evamile nge-Sturge-Weber Syndrome?

Yebo, kungenzeka ngokuphelele ukuphila impilo evamile ngesimo esifana ne-Sturge-Weber Syndrome. Abantu abaningi baphila impilo ephumelelayo nejabulisayo ngalesi simo.

Izimpaphe zokuzalwa zivame kakhulu. Kodwa-ke, izimpaphe zokuzalwa ezibonakalayo nezisakazekile ebusweni azivamile kangako. Ungase uthande ukucabanga ngokwelashwa nge-laser ukuze unciphise ukubonakala kwalezi zimpaphe zokuzalwa ukuze uzizwe ukhululekile. Leso yisinqumo sakho ngokuphelele.

Akukho lutho olungalungile ngendlela ozelwe ngayo. Wonke umuntu unokubukeka kwakhe okuhlukile. Abantu abaningi bathola ukuhlinzwa kobuhle ukuze benze izinguquko zomuntu siqu ekubukekeni kwabo. Lokho kuyaqondakala. Ukuthi ukhetha ukuhlinzwa kobuhle noma cha kuyisinqumo somuntu siqu. Lokho abanye abantu abakucabangayo ngawe akufanele kuthonye leso sinqumo.

Ngingamsiza kanjani ingane yami ene-Sturge-Weber Syndrome?

Into ebaluleke kakhulu ongayenza njengomzali ukuthanda, ukusekela, nokunikeza ingane yakho ukunakekelwa kwezokwelapha ekudingayo. Into ebaluleke kakhulu okufanele uyenze ukuze ubhekane kahle nalesi simo ukwakha isithombe esihle.

Ungasiza ingane yakho izizwe kahle ngokubukeka kwayo ngokukhuluma ngobude bayo, ukuma kwekhala layo, ngisho nalelo bala lewayini elibomvu njengengxenye evamile yokubukeka kwayo. Khuluma nengane yakho ngezinto ezinjengokuthi, "Kunezinto ngemizimba yethu esingenakuzilawula. Kodwa singafunda ukuthanda lokho esinakho ngokuzibheka 'njengathi'."

Uma wena noma ingane yakho nidinga ukwesekwa kwengqondo, khuluma nodokotela wakho. Angase akuncome ukuthi ubonane nomeluleki wezempilo yengqondo noma ujoyine iqembu lokusekelana neminye imindeni ene-Sturge-Weber Syndrome. Kuningi ongakufunda kokuhlangenwe nakho kwabanye.

Kufanele ngiyise nini ingane yami kudokotela?

Uma ingane yakho ingahlangabezani nezigaba zokukhula ezifanele iminyaka yayo, njengokukhuluma amazwi ayo okuqala noma ukuhamba, tshela udokotela wakho.

Ezinye zezimpawu ze-Sturge-Weber Syndrome, njengobuthakathaka bemisipha kolunye uhlangothi lomzimba, zingafana nezokuhlaselwa yisifo sohlangothi. Uma ubona noma yiziphi izimpawu ezintsha noma ezingavamile ezihlukile ekuziphatheni okuvamile kwengane yakho, ungangabazi ukushayela udokotela wakho ucingo noma ushayele izinsizakalo eziphuthumayo.

Uma ingane yakho inesifo sokuwa okokuqala, yiyise esibhedlela ngokushesha. Lokhu kubaluleke kakhulu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Uma uvakashela udokotela wengane yakho, buza yonke imibuzo onayo. Ungagodli lutho. Isibonelo, kungumqondo omuhle ukubuza imibuzo efana nale:

• "Yiziphi izimpawu okufanele ngiziqaphele?"
• "Uncoma uhlobo luni lokwelashwa?"
• "Ingabe ikhona imiphumela emibi yokwelashwa? Iyini?"
• "Ngingenzenjani uma ingane yami inesifo sokuwa?"
• "Hlobo luni lwezinto okufanele sizilungiselele esikhathini esizayo?"

I-Sturge-Weber Syndrome isifo esingaba nzima kancane uma uthola ngemizuzu embalwa yokuqala nosana lwakho olusanda kuzalwa. Ungase ukhathazeke ngokuthi ikusasa labo liphetheni nokuthi bazobhekana kanjani nezimpawu ezingalindelekile ezivele ngokuzumayo. Kuvamile ukuba nemibuzo futhi uzizwe ulahlekile kancane ngalesi sikhathi. Kodwa yazi ukuthi awuwedwa. Ithimba lezokwelapha lengane yakho likulungele ukukusiza uqonde okwenzekayo futhi liphendule noma yimiphi imibuzo ongase ube nayo. Bazokusekela wena nengane yakho njengoba ikhula. Uma ubona noma yiziphi izimpawu ezintsha noma unemibuzo mayelana nokwelashwa kwengane yakho, ungalokothi unqikaze ukukhuluma nodokotela wayo.

Izinto ezibaluleke kakhulu esifuna ukuzithatha ekhaya kulesi sihloko

Kulungile, ngakho-ke sesikhulume kakhulu nge-Sturge-Weber Syndrome namuhla, akunjalo? Nazi ezinye zezinto ezibaluleke kakhulu okufanele uzikhumbule:

• Ibala lewayini le-Port: Uphawu oluyinhloko lwalokhu ibala elipinki kuya kophuzi elimnyama ebusweni bomntwana, ikakhulukazi ebunzini nangaphezu kwamehlo. Kodwa-ke, akuwona wonke umuntu onaleli bala one-Sturge-Weber Syndrome.
• Lesi yisimo sofuzo: kodwa akuyona into ezuzwe njengefa, yinto eyenzeka ngengozi.
• Izimpawu: Ngaphezu kwe-macula, ezinye izimpawu zifaka phakathi ukucindezeleka kwamehlo okwenyuka (i-glaucoma), ukuxhuzula ngenxa yezinkinga zemithambo yegazi ebuchosheni, kanye nokubambezeleka kokukhula. Akuwona wonke umuntu ozobhekana nazo zonke izimpawu.
• Kunezindlela zokwelapha: Ukwelashwa kuhloselwe kakhulu ukulawula izimpawu. Kunezinto ezifana ne-laser, imithi, ukuhlinzwa, kanye nokwelashwa ngokomzimba.
• Sekela ingane yakho: Kubaluleke kakhulu ukusiza ingane yakho ukuba ibe nesimo sengqondo esihle ngokubukeka kwayo. Funa usizo kodokotela, futhi uma kudingeka, abeluleki bezengqondo.
• Ungesabi, thola ulwazi: Kuvamile ukuzizwa ukhathazekile uma uthola ngesimo esinjengalesi. Kodwa into ebaluleke kakhulu ukuthola iseluleko esifanele sezokwelapha nokwaziswa ngalokhu. Khuluma nodokotela wakho ngakho konke.

Sifisela wena nengane yakho ukuthi nihlale nijabule futhi niphilile!

I- Sturge-Weber Syndrome, ibala lewayini le-Port, uphawu lokuzalwa, i-glaucoma, ukuqina komzimba, izifo zofuzo, impilo yengane