Ingaba umntwana wakho omncinci unendawo enkulu emfusa ebusweni bakhe? Ngaba mhlawumbi yiSturge-Weber Syndrome?

Usenokuba nexhala kancinci xa ubona ibala elikhulu, elithe tyaba, elipinki ukuya kwelomfusa elimnyama kwelinye icala lobuso bomntwana wakho osandul’ ukuzalwa, mhlawumbi ebunzini okanye ngaphezulu kweenkophe. Uninzi lwexesha, ezi ziimpawu zokuzalwa eziqhelekileyo. Kodwa, kunqabile kakhulu, ibala elinje linokuba luphawu lwesifo semfuza esibizwa ngokuba yiSturge-Weber Syndrome . Makhe sithethe ngale nto ngokweenkcukacha namhlanje, akunjalo? Musa ukoyika, into ebalulekileyo kukwazi oku.

Yintoni iSturge-Weber Syndrome?

Ngamafutshane, iSturge-Weber Syndrome sisifo semfuza esichaphazela indlela imithambo yegazi ebuchotsheni, eluswini, nasemehlweni omntwana wakho ekhula ngayo. Sidla ngokubonakala ekuzalweni.

Uphawu lokuqala nolucacileyo lwale meko luphawu lokuzalwa esilukhankanyileyo ngaphambili , i-port wine stain . Eli libala elithe tyaba, elipinki ukuya kwelomfusa (okanye elimnyama kunombala wesikhumba somntwana) phezu kolusu. Libizwa ngokuba lifana nombala oshiywa yiwayini encinci eluswini. Eli bala lihlala libonakala kwelinye icala lobuso bomntwana, ingakumbi ebunzini nangasentla kwenkophe.

Nangona kunjalo, iimpawu zokuzalwa zixhaphake kakhulu. Ngenxa yoko, ayingomntwana wonke one-port wine stain one-Sturge-Weber Syndrome. Abanye abantwana banokuba neli candelo kuphela, ngaphandle kwezinye iimpawu ezongezelelweyo.

Nangona kunjalo, ukuba umntwana wakho uzelwe enolu hlobo lophawu lokuzalwa, oogqirha baya kujonga imithambo yegazi yobuchopho bomntwana kwangoko nje ukuba azelwe ukuze babone ukuba kukho naluphi na olunye utshintsho. Oku kungenxa yokuba ukuba kukho ingxaki ngemithambo yegazi engqondweni, inokuchaphazela ukuhamba kwegazi ukuya engqondweni kwaye ibangele izinto ezifana nokuxhuzula . Le meko (Sturge-Weber Syndrome) ayisongeli ubomi. Nangona kunjalo, ukuba ayinyangwa, inokuchaphazela umgangatho wobomi bomntwana. Yiyo loo nto kubalulekile ukuqaphela oku kwaye uthathe amanyathelo afunekayo.

Zithini iimpawu zeSturge-Weber Syndrome?

Kukho iimpawu ezintathu eziphambili zeSturge-Weber Syndrome. Masibone ukuba zithini:

• (Ibala lewayini eliyiPort) Uphawu lokuzalwa: Olu luphawu oluphambili nolubonakalayo lokuqala. Olu luqokelelo lwemithambo yegazi eqokelelene eluswini lomntwana. Luhlala lubonakala ebunzini nangasentla kweenkophe. Ekuhambeni kwexesha, ulusu apho eli bala likhona lunokuqina lube mnyama ngombala.

• I-Glaucoma: Le yimeko apho ulwelo luqokelelana ngaphakathi kweliso, nto leyo ebangela uxinzelelo. Ifana nebhaluni ezaliswe ngamanzi ize ibangele ukuba iqine. Oku kungonakalisa ukubona kwakho, ngoko ke kufuneka ukwazi oku. Inani elikhulu labantwana abaneSturge-Weber Syndrome banokuba nale meko.

• Ii-angiomas ze-leptomeningeal:Eli ligama elintsonkothileyo, akunjalo? Ngamafutshane, libhekisa kwimithambo yegazi engaqhelekanga (ebizwa ngokuba yi-angiomas) eyenzeka kwiinwebu ezigubungela ubuchopho kunye nomqolo (ebizwa ngokuba yi-leptomeninges). Le mithambo yegazi engaqhelekanga inokuthintela ukuhamba kwegazi kwiindawo zengqondo. Iindawo zengqondo ezichaphazelekileyo zinokubangela ukuxhuzula kunye nobuthathaka kwelinye icala lomzimba (hemiparesis) .

Ukuba umntwana wakho unesithuthwane, singaqala kunyaka wakhe wokuqala, rhoqo ngaphambi kokuba abe neminyaka emibini ubudala. Ngokwesiqhelo, iimpawu zesithuthwane zichaphazela icala elinye lomzimba kuphela. Ibala lewayini elibomvu linokuba mnyama njengoko isithuthwane siqhubeka. Oku kuqhelekile, ngoko ungakhathazeki.

Ukongeza kwezi mpawu ziphambili, kukho nezinye iimpawu onokuzibona. Kubalulekile ukukhumbula ukuba ayinguye wonke umntu oza kuzibona zonke ezi zinto.

• Ukulibaziseka kokukhula: Oku kuthetha ukuba umntwana uphuze kancinci ekuphuhliseni izakhono ezifanelekileyo ngokweminyaka ezifana nokuthetha, ukuhamba, nokudlala nabanye abantwana.
• I-Hypothyroidism: Oku kunokucothisa iinkqubo ezininzi zomzimba, okubangela ukudinwa kunye nokuqhina.
• Ukukhubazeka kwengqondo: Izinto ezifana nobunzima bokufunda kunye nokuncipha kwamandla okuqonda.
• Intloko ebuhlungu okanye iintloko ezibuhlungu: Iintloko ezibuhlungu rhoqo.

Kodwa khumbula, ayizizo zonke ezi mpawu ezenzeka kumntwana ngamnye. Zinokwahluka ukusuka komnye umntwana ukuya komnye. Abanye abantwana banokuba nerhashalala kuphela, ngelixa abanye banokuba nerhashalala kunye nokuqina.

Yintoni ebangela iSturge-Weber Syndrome?

Oku kungenxa yotshintsho lwemfuza kwijini ebizwa ngokuba yi-(CNAQ). Le jini inoxanduva lokulawula ukwakheka nokusebenza kwemithambo yegazi emzimbeni wethu. Njengokuba iresiphi ingenakulungiswa ngokuchanekileyo ukuba kukho impazamo, notshintsho lunokwenzeka kule jini. Ngenxa yoko, imithambo yegazi ayibumbeki kakuhle ngelixa umntwana esesesibelekweni.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Lo ngumbuzo abazali abaninzi abanawo. Hayi, iSturge-Weber Syndrome ayisiyonto ezuzwa njengelifa. Yinto eyenzeka ngengozi, oko kukuthi, ngaphandle kwesizathu esithile (ngamaxesha athile). Oku kuthetha ukuba nabani na unokuzalwa enale meko. Musa ukucinga ukuba yenzeke ngenxa yento oyenzileyo okanye oyithethileyo.

Olu tshintsho lwemfuza lwenzeka kwiiseli zomzimba – oko kukuthi, aluchaphazeli iiseli zesini (iiseli zamaqanda kunye nesidoda) sikamama notata. Olu tshintsho lwenzeka kwangethuba kakhulu ekukhuleni kwe-embryo. Ezinye iiseli zinokuba nolu tshintsho lwemfuza, ngelixa ezinye zingenalo (oku kubizwa ngokuba yi-mosaicism). Yiyo loo nto eminye imithambo yegazi yakheka kakuhle, ngelixa eminye ingenalo.

Ziziphi iingxaki ezinokubakho zeSturge-Weber Syndrome?

Ngenxa ye-leptomeningeal angiomas esithethe ngayo, eziyimithambo yegazi engaqhelekanga engqondweni, kunokubakho umngcipheko okhulayo weengxaki ezithile. Ezi ziquka:

• Ukwakheka kwekhalsiyam: Oku kukuqokelelana kwekhalsiyam kwimithambo yegazi . Oku kunokubonwa kwi-X-rays yobuchopho.
• Ukulahleka/ukuchithwa kwezicubu zobuchopho (Atrophy): Ekuhambeni kwexesha, ezinye iindawo zengqondo zinokuncipha.
• Ukukhubazeka: Ukulahlekelwa ngamandla kwelinye icala lomzimba.
• Istroke: Imeko embi kakhulu ebangelwa kukuvaleka okanye ukuqhekeka komthambo wegazi ohambisa igazi engqondweni.

Ezi ngxaki azibonakali kuwo wonke umntu, kodwa kubalulekile ukuba uzazi.

Uyazi njani ukuba uneSturge-Weber Syndrome?

Ugqirha uza kugqiba ukuba umntwana wakho uneSturge-Weber Syndrome emva kokuba ezelwe. Ungabona nebala le-port-wine eluswini lomntwana wakho. Ugqirha uza kulikhangela ngexesha lovavanyo lokuqala lomzimba lomntwana wakho. Emva koko, kuya kwenziwa uvavanyo lwe-neurological kunye nolunye uvavanyo ukujonga iingxaki kwimithambo yegazi ezichaphazela amehlo kunye nengqondo. Olu vavanyo lunokuquka:

• Iskeni ye-MRI (Magnetic Resonance Imaging): Oku kungathatha imifanekiso eneenkcukacha zobuchopho kunye nemithambo yegazi. Oku kubaluleke kakhulu ukufumanisa ukuba kukho na (i-leptomeningeal angiomas).
• Iskeni ye-CT (Computed Tomography): Oku kukwathatha imifanekiso yobuchopho, ingakumbi ukubona ukuba kukho i-calcification na.
• Uvavanyo lwe-EEG (i-Electroencephalogram): Olu vavanyo lulinganisa umsebenzi wombane wengqondo. Ukuba kukho ukuxhuzula, kunokunceda ekufumaniseni ukuba yintoni ebangela oko kunye nokuba kuqala phi engqondweni.
• Uvavanyo lwamehlo: Oku kubalulekile ukuze kuhlolwe i-glaucoma kunye noxinzelelo lwamehlo.

Ngokusekelwe kulwazi olufunyenwe kwezi mvavanyo, oogqirha bafikelela kwisigqibo esichanekileyo sokuxilongwa.

Ziziphi iindlela zonyango lweSturge-Weber Syndrome?

Unyango lwale meko lujolise kakhulu ekulawuleni iimpawu. Oku kuthetha ukuba akukho nyango okwangoku, kodwa kukho unyango oluninzi olunokunceda ukulawula iimpawu kwaye luncede umntwana aphile ubomi obungcono. Ezi zinokubandakanya:

• Amayeza okuthintela ukuxhuzula okanye ngamanye amaxesha utyando lusetyenziswa ukulawula ukuxhuzula. Abantwana abaninzi banokulawula ukuxhuzula kwabo ngamayeza.
• Amaconsi okanye utyando olusebenzisa amayeza e-glaucoma lunceda ekunciphiseni uxinzelelo lwamehlo.
• Ukulungiswa kwesikhumba nge-laser kunokunciphisa ukubonakala kwebala lewayini elibomvu. Nangona oku kungayisusi ngokupheleleyo ibala, kunokunciphisa umbala walo kwaye kutshintshe ukubonakala kwalo ngandlela thile.
• Unyango lomzimba lobuthathaka bemisipha. Ukuba kukho ubuthathaka kwelinye icala lomzimba, oku kunokunceda ukuqinisa ezo zihlunu nokwenza intshukumo ibe lula.
• Kukho izifundo zemfundo ekhethekileyo ezifumanekayo kubantwana abanengxaki yokulibaziseka kokukhula okanye abaneengxaki zengqondo. Ezi zibaluleke kakhulu ekuphuhliseni izakhono zabo.

Oogqirha banokucebisa ukuba abantu abadala abaneSturge-Weber Syndrome bathathe i-aspirin enesilinganiselo esiphantsi imihla ngemihla ukunciphisa umngcipheko westroke kunye neempawu ezinxulumene nayo. Nangona kunjalo, musa ukunika abantwana abancinci i-aspirin ngaphandle kwengcebiso kagqirha. Inokuba yingozi.

Unyango luyahluka kumntu nomntu. Ugqirha womntwana wakho uza kukuxelela ukuba loluphi unyango alucebisayo kunye nemiphumo emibi yolo nyango, ukuze ukwazi ukwenza izigqibo ezinolwazi malunga nempilo yomntwana wakho.

Liza kuba njani ikamva lomntwana oneSturge-Weber Syndrome?

Ugqirha womntwana wakho unokukuxelela ngcono ngemeko yakhe. Kwimeko yeSturge-Weber Syndrome, ubungakanani bomonakalo wobuchopho bunokunceda ugqirha wakho ukuba aqinisekise ukuba umntwana wakho uza kuba nesifo esinjani. Umzekelo, ukuba umntwana wakho uqala ukuba nesifo sokuwa ngaphambi kokuba abe neminyaka emi-2 ubudala, kusenokwenzeka ukuba abe nokulibaziseka kokukhula okanye ukukhubazeka kwengqondo. Nangona kunjalo, oku akunjalo kubo bonke abantwana.

Umntwana wakho kuya kufuneka ahlale enxibelelene neqela lakhe lezonyango ubomi bakhe bonke ukuze alawule iimpawu. Basenokubonana nogqirha wezifo zengqondo ukuba kufanelekile, kunye nogqirha wamehlo ukuze ahlolwe umbono wakhe minyaka le.

Ngaba kukho impembelelo kubomi bomntu?

Oku kuyabaxhalabisa abazali abaninzi. I-Sturge-Weber Syndrome ayidli ngokuchaphazela ubomi bomntwana. Nangona kunjalo, iimpawu zinokuchaphazela umgangatho wobomi bomntwana, ngoko ke unyango kunye nokhathalelo oluvela kugqirha luya kufuneka ubomi bakhe bonke. Ekubeni ubunzima bale meko buyahluka kumntu nomntu, ugqirha womntwana wakho uya kuchaza into omawuyilindele kunye nento omawuyilumkele.

Ngaba iSturge-Weber Syndrome ingathintelwa?

Njengoko besitshilo ngaphambili, utshintsho lwezakhi zofuzo olubangela iSturge-Weber Syndrome lwenzeka ngokungacwangciswanga, ngaphandle kwesizathu esibonakalayo. Ke ngoko, okwangoku akukho ndlela iqinisekisiweyo yokukuthintela. Oku akuyonto eyenzeka ngempazamo yomntu.

Ngaba kunokwenzeka ukuba uphile ubomi obuqhelekileyo ngeSturge-Weber Syndrome?

Ewe, kunokwenzeka ngokupheleleyo ukuphila ubomi obuqhelekileyo xa unesimo esifana neSturge-Weber Syndrome. Abantu abaninzi baphila ubomi obuphumelelayo nobonwabisayo xa benale meko.

Iimpawu zokuzalwa zixhaphake kakhulu. Nangona kunjalo, iimpawu zokuzalwa ezibonakalayo nezixhaphakileyo ebusweni azixhaphakanga kangako. Usenokufuna ukuqwalasela unyango lwe-laser ukunciphisa ukubonakala kwezi mpawu zokuzalwa ukuze uzive ukhululekile. Eso sisigqibo sakho ngokupheleleyo.

Akukho nto imbi ngendlela ozelwe ngayo. Wonke umntu unenkangeleko yakhe eyahlukileyo. Abantu abaninzi bafumana utyando lobuhle ukuze benze utshintsho kwinkangeleko yabo. Oko kuyaqondakala. Nokuba ukhetha ukwenza utyando lobuhle okanye akunjalo sisigqibo somntu. Oko abanye abantu bakucingayo ngawe akufanele kuchaphazele eso sigqibo.

Ndingamnceda njani umntwana wam oneSturge-Weber Syndrome?

Eyona nto ibalulekileyo onokuyenza njengomzali kukuthanda, ukuxhasa, nokubonelela umntwana wakho ngonyango aludingayo. Eyona nto ibalulekileyo onokuyenza ukuze uhlangabezane kakuhle nale meko kukwakha umfanekiso-ngqondweni omhle.

Ungamnceda umntwana wakho azive kakuhle ngenkangeleko yakhe ngokuthetha ngobude bakhe, imilo yempumlo yakhe, kwanaloo doti yewayini ye-port njengenxalenye eqhelekileyo yenkangeleko yakhe. Thetha nomntwana wakho ngezinto ezinje, "Kukho izinto ngemizimba yethu esingenakuzilawula. Kodwa singafunda ukuthanda izinto esinazo ngokuzicinga 'ngathi'."

Ukuba wena okanye umntwana wakho udinga inkxaso yengqondo, thetha nogqirha wakho. Angacebisa ukuba ubone umcebisi wezempilo yengqondo okanye ujoyine iqela lenkxaso kunye nezinye iintsapho ezineSturge-Weber Syndrome. Kuninzi onokukufunda kumava abanye abantu.

Ndifanele ndimse nini umntwana wam kugqirha?

Ukuba umntwana wakho akafikeleli kwimigangatho yokukhula efanelekileyo ngokweminyaka yakhe, njengokuthetha amazwi akhe okuqala okanye ukuhamba, xelela ugqirha wakho.

Ezinye zeempawu zeSturge-Weber Syndrome, ezinje ngobuthathaka bemisipha kwelinye icala lomzimba, zinokufana nezo zestroke. Ukuba ubona naziphi na iimpawu ezintsha okanye ezingaqhelekanga ezahlukileyo kwindlela umntwana wakho aziphethe ngayo, ungathandabuzi ukufowunela ugqirha wakho okanye ukufowunela iinkonzo zongxamiseko.

Ukuba umntwana wakho unesithuthwane okokuqala, mse esibhedlele ngoko nangoko. Oku kubaluleke kakhulu.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Xa undwendwela ugqirha womntwana wakho, buza yonke imibuzo onayo. Musa ukumbambela nantoni na. Umzekelo, licebo elihle ukubuza imibuzo efana nale:

• "Zeziphi iimpawu ekufuneka ndizijonge?"
• "Ucebisa uhlobo luni lonyango?"
• "Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango? Zithini ezo?"
• "Ndingenza ntoni xa umntwana wam enesifo sokuwa?"
• "Zeziphi izinto esifanele sizilungiselele kwixesha elizayo?"

I-Sturge-Weber Syndrome sisifo esinokuba nzima kancinci ukuba ufumanisa kwimizuzu embalwa yokuqala nosana lwakho olusandul’ ukuzalwa. Usenokuba ukhathazekile malunga nokuba ikamva labo liza kuba njani kwaye baza kujongana njani neempawu ezingalindelekanga ezivele ngequbuliso. Kuqhelekile ukuba nemibuzo kwaye uzive ulahlekile kancinci ngeli xesha. Kodwa yazi ukuba awuwedwa. Iqela lezonyango lomntwana wakho likulungele ukukunceda uqonde okwenzekayo kwaye uphendule nayiphi na imibuzo onokuba nayo. Baza kukuxhasa wena nomntwana wakho njengoko bekhula. Ukuba ubona naziphi na iimpawu ezintsha okanye unemibuzo malunga nonyango lomntwana wakho, ungaze ungathandabuzi ukuthetha nogqirha wabo.

Ezona zinto zibalulekileyo esifuna ukuzithatha kweli nqaku

Kulungile, ngoko ke sithethe kakhulu ngeSturge-Weber Syndrome namhlanje, akunjalo? Nazi ezinye zezinto ezibalulekileyo ekufuneka uzikhumbule:

• Ibala lewayini yePort: Uphawu oluphambili lwale nto libala elipinki ukuya kwelomfusa elimnyama ebusweni bomntwana, ingakumbi ebunzini nangasentla kweenkophe. Nangona kunjalo, ayinguye wonke umntu onale bala oneSturge-Weber Syndrome.
• Le yimeko yemfuza: kodwa ayisiyonto ezuzwe njengelifa, yinto eyenzeka ngengozi.
• Iimpawu: Ukongeza kwi-macula, ezinye iimpawu ziquka uxinzelelo lwamehlo oluphezulu (i-glaucoma), ukuxhuzula ngenxa yeengxaki zemithambo yegazi engqondweni, kunye nokulibaziseka kokukhula. Ayinguye wonke umntu oza kuba nazo zonke ezi mpawu.
• Kukho unyango: Unyango lujolise kakhulu ekulawuleni iimpawu. Kukho izinto ezifana ne-laser, amayeza, utyando, kunye nonyango lomzimba.
• Xhasa umntwana wakho: Kubaluleke kakhulu ukunceda umntwana wakho aphuhlise isimo sengqondo esihle ngenkangeleko yakhe. Funa uncedo koogqirha, kwaye ukuba kuyimfuneko, nabacebisi bezengqondo.
• Musa ukoyika, fumana ulwazi: Kuqhelekile ukuba nexhala xa ufunda ngemeko efana nale. Kodwa eyona nto ibalulekileyo kukufumana iingcebiso zonyango ezifanelekileyo kwaye ufumane ulwazi ngale nto. Thetha nogqirha wakho ngayo yonke into.

Sinqwenela ukuba wena nomntwana wakho nihlale nivuya kwaye niphilile!

Isifo seSturge-Weber, ibala lewayini lePort, uphawu lokuzalwa, iglaucoma, ukuqina komzimba, izifo zemfuza, impilo yomntwana