Ngaba unamabala eluswini lwakho okanye amaqhuma emzimbeni wakho? Oku kusenokuba yiNeurofibromatosis Type 1 (NF1)!

Namhlanje siza kuthetha ngemeko enzima kancinci, kodwa enokuba yinto ebalulekileyo kubantu abaninzi. Siyibiza ngokuba yiNeurofibromatosis Type 1, okanye (NF1) ngamafutshane. Usenokuba awuzange uve ngeli gama. Kodwa masithethe ngayo ngokulula, ngendlela onokuyiqonda.

Yintoni iNeurofibromatosis Type 1 (NF1)?

Ngamafutshane, i-(NF1) yimeko echaphazela ulusu lwakho kunye nenkqubo yakho yemithambo-luvo (oko kukuthi, ingqondo yakho , umqolo , kunye nazo zonke ezinye iimithambo-luvo). Le yimeko ebangela utshintsho oluncinci kwindlela ezinye iiseli ezikhula ngayo emzimbeni wethu. Oku kubangela ukuba kuvele iithumba ezingezizo ezomhlaza (ezingenobungozi). Ezi zibizwa ngokuba zii-neurofibromas . Ezi thumba zenzeka kwimithambo-luvo engqondweni yakho, kumqolo, nakwisikhumba. Enye yeempawu eziphambili ezibonwa kubantu abane-(NF1) kukuba banamabala amaninzi ekhefi eluswini lwabo. Le meko inokuchaphazela namehlo namathambo. Ngamanye amaxesha oogqirha babiza ngokuba sisifo se-Von Recklinghausen, osenokuba ukhe wasiva.

Ixhaphake kangakanani i-Neurofibromatosis Type 1 (NF1)?

Olu lolona hlobo luqhelekileyo lwe-neurofibromatosis. Enyanisweni, ama-96% abo bonke abaguli be-neurofibromatosis bane-NF1. Ehlabathini lonke, kuqikelelwa ukuba malunga nomnye kubantwana abangama-3,000 abazalwayo minyaka le une-NF1.

Zithini iimpawu ze-NF1?

Iimpawu ze-(NF1) zibangelwa kakhulu kukucinezelwa kwemithambo-luvo. Jonga ukuba ezi mpawu zivakala ziqhelekile na kuwe:

• Amabala angaphezu kwamathandathu e-café au lait: La mabala abonakala ngathi amdaka okhanyayo ukuya kumdaka omnyama eluswini, afana neempawu zokuzalwa .
• Ii-neurofibromas ezimbini okanye ngaphezulu phantsi kwesikhumba: Ezi thumba zinokuvela naphi na emzimbeni. Zinokuba ncinci njenge-pea okanye zibe nkulu. Zinokuba thambile xa uzichukumisa okanye zibe nzima kancinci. Rhoqo, ulusu olujikeleze ezi thumba lumnyama kunombala wakho wesikhumba oqhelekileyo.
• Ibonakala ngathi ngamabala amancinci (amabala) emakhwapheni, emathunjini, kwaye ngamanye amaxesha phantsi kwamabele.
• Ukwakheka kwamaqhuqhuva amancinci ( ii-nodules zeLisch) kwi-iris okanye kwiithumba ze-optic nerve (i-optic glioma) kwaye ngenxa yoko ukuphazamiseka kokubona.
• Izinto ezingaqhelekanga ekukhuleni kwamathambo:Umzekelo, kunokubakho izinto ezifana ne-scoliosis okanye amathambo emilenze egobileyo, intloko enkulu kunesiqhelo (i-macrocephaly), kunye nobude obufutshane.
• Ukunqongophala kwengqalelo/ingxaki yokusebenza kakhulu ( ADHD ) .
• Intlungu kwiindawo apho iithumba zakheke khona, ubunzima bokuhambahamba, kunye nobunzima bokusebenza kwizitho ezifanelekileyo.

Ezi mpawu zinokuba buthathaka kakhulu kwabanye abantu, kwaye zinokuchaphazela abanye kakhulu. Kwakhona, azikho zonke ezi mpawu ezikhoyo ukususela ekuzalweni. Zivela ngamaxesha ahlukeneyo ebomini. Ke ngoko, indlela ezichaphazela ngayo umntu ngamnye yahlukile.

Yintoni ebangela i-Neurofibromatosis Type 1 (NF1)?

Eyona nto ibangela i-NF1 kukutshintsha kwenye yezakhi zofuzo zethu, ebizwa ngokuba yi-mutation. Le gene ibizwa ngokuba yi-Neurofibromin 1 gene. Le gene ye-Neurofibromin 1 ixelela umzimba wethu ukuba wenze iproteni ebizwa ngokuba yi-neurofibromin. Le protein ibaluleke kakhulu kuba ilawula ukuba iiseli zahlula-hlula kangaphi kwaye zenze iikopi ezingaphi. Ukuchaneka, le yiproteni ethintela ukwakheka kweethumba (i-tumor suppressor) .

Ngoko ke, xa umzimba ungafumani miyalelo ifanelekileyo yokwenza le protein ye-neurofibromin, ezinye iiseli azihlukani kakuhle kwaye ziphindaphindeke. Endaweni yoko, zenza iikopi ezingaphezulu kunezo zifunekayo. Kulapho ke kuvela khona iithumba. Ithumba sisicuku esixineneyo sezicubu esenziwe linani elikhulu leeseli ezingaqhelekanga.

Ungayifumana le nguqu yezakhi zofuzo komnye wabazali bakho. Oku kubizwa ngokuba yi-autosomal dominant pattern of inheritance . Nangona kunjalo, unokuba nale nguqu yezakhi zofuzo nokuba akukho mntu kusapho lwakho onayo le ngxaki. Malunga nesiqingatha sabantu abane-NF1 bayiphuhlisa ngokuzenzekelayo. Oku kuthetha ukuba inguqu yezakhi zofuzo yenzeka ngengozi kwaye ayizuzwa ngumntu.

Ziziphi iingxaki ezinokubakho ze-Neurofibromatosis Type 1 (NF1)?

(NF1) inokubangela iingxaki ezithile. Nazi ezinye zazo:

• Usenokuphulukana nokubona kwakho.
• Kunokwenzeka ukwaphuka okanye ukungaqheleki ekuphuhlisweni kwamathambo (i-dysplasia).
• Imithambo-luvo ingonakalisa.
• Uxinzelelo lwegazi oluphezulu (uxinzelelo lwegazi oluphezulu) lunokubakho.
• Kwanasemva konyango nokususwa, iithumba zinokuphinda zibuye.
• Ukuzithemba kunokuncipha.

Okubaluleke kakhulu, ezinye zeethumba ezikhula kwi-NF1 zinomhlaza.Kukho ithuba lokuba oku kungaba yingxaki. Ngoko ke, kubaluleke kakhulu ukulumka ngale nto.

Ifunyaniswa njani i-NF1?

Ugqirha uza kukuhlola aze akunike uvavanyo olufunekayo ukuze abone ukuba unayo na i-NF1. Uza kuqala enze uvavanyo lomzimba, abuze ngeempawu zakho, aze afumanise ukuba zikuchaphazela njani.

Ukongeza, ungenza iimvavanyo ezinje:

• Uvavanyo lokuthatha imifanekiso: Umzekelo, i-MRI, i-X-ray, okanye i-CT scan.
• Uvavanyo lwemfuza.
• Uvavanyo lwamehlo.

Uninzi lwabantu lufunyaniswa lune-NF1 xa lukhulile. Oku kungenxa yokuba iimpawu azibonakali ngaxeshanye, kodwa zikhula kancinci kancinci ngokuhamba kwexesha. Umzekelo, usenokuba namabala e-cafe au lait xa uzalwa, okanye anokuvela kwiminyaka embalwa yokuqala. Nangona kunjalo, kungathatha iminyaka emi-3-5 ukuba amabala avele emakhwapheni nasezingxondorheni. I-Neurofibromas luhlobo lwethumba olubonakala kakhulu xa lukhulile. Rhoqo, abantu bafuna uncedo lwezonyango ukuze batshintshe umbono.

Inyangwa njani i-Neurofibromatosis Type 1 (NF1)?

Okwangoku akukho nyango lwale meko (NF1). Nangona kunjalo, ugqirha unokukunceda ulawule iimpawu zakho. Iindlela zonyango ziyahluka ngokuxhomekeke kwindlela iimpawu zakho ezikuchaphazela ngayo. Nazi ezinye zeendlela zonyango ezikhoyo:

• Utyando lokususa ithumba.
• I-Chemotherapy lunyango lweethumba eziye zaba ngumhlaza.
• Izinto ezifana notyando okanye izixhobo zokubopha amathambo ezingalunganga.
• Amayeza okulawula ukukhula kwethumba: Umzekelo, iyeza elibizwa ngokuba yi-selumetinib.
• Amayeza okulawula ezinye iimpawu: Umzekelo, amayeza e-ADHD.

Ukuba une-NF1, kubalulekile ukubona ugqirha ubuncinane kanye ngonyaka ukuze uhlolwe ngokupheleleyo. Kufuneka uhlolwe amehlo rhoqo ngonyaka. Ukongeza, kubaluleke kakhulu ukuba uhlolwe uxinzelelo lwegazi ubuncinane kanye ngonyaka ukuze kuhlolwe iingxaki.

Ngaba nawe kufuneka ucinge ngempilo yengqondo?

Ewe, ngenene. Kuqhelekile ukuba le meko ikuchaphazele ngokweemvakalelo. Abantu abaninzi bafumana isiqabu ngokuthetha nogqirha wezempilo yengqondo . Okanye, ukujoyina iqela lenkxaso apho abantu abaneemeko ezifanayo bahlanganisana khona kunokuba luncedo kakhulu. Kuba ngamanye amaxesha, xa ezi zihluma kunye namabala ebonakala kwiindawo ezibonakalayo kwabanye, unokuziva uxhalabile malunga nenkangeleko yakho. Ke ngoko, kulungile kakhulu ukuthetha nogqirha okanye umcebisi wempilo yengqondo ngezinto ezinje.

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

Ewe, iziphumo ebezingalindelekanga zingahluka ngokuxhomekeke kuhlobo lonyango. Ugqirha wakho uza kukuchazela oku ngaphambi kokuba uqale unyango. Umzekelo, ukuba utyando, unokufumana ukopha kunye nosulelo. Ukuba ufumene i-chemotherapy, unokufumana ukulahleka kweenwele kunye nokudinwa.

Ngaba i-Neurofibromatosis Type 1 (NF1) ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela i-NF1. Nangona kunjalo, ukuba uceba ukuqala usapho, oko kukuthi, ukuba unethemba lokuba nomntwana, ungathetha nogqirha ubuze ngengcebiso yezakhi zofuzo . Oku kunokukunika ukuqonda okungcono ngamathuba okuba nomntwana onesifo sezakhi zofuzo esifana ne-NF1.

Ingakanani iminyaka yobomi bomntu one-NF1?

Ngokwesiqhelo, ukuba iimpawu zakho azikho qatha, i-NF1 ayichaphazeli ngqo ixesha ophila ngalo. Uninzi lwabantu luphila ubomi obuqhelekileyo. Nangona kunjalo, ukuba kukho iingxaki (nangona zingaqhelekanga), ingakumbi ukuba kukho iithumba ezininzi kakhulu ukuba zingasuswa ngokukhuselekileyo ngotyando, okanye ukuba iithumba zijika zibe ngumhlaza, zinokuchaphazela ixesha ophila ngalo (ukuxela kwangaphambili).

Yintoni onokuyilindela ukuba ufunyaniswe une-NF1?

(NF1) yimeko echaphazela abantu ngeendlela ezahlukeneyo. Abanye abantu basenokungabi nazimpawu zinzima ngokwaneleyo ukuba zingaphazamisana nemisebenzi yemihla ngemihla. Abanye banokuba neengxaki zokubona okanye iintlungu ezenza kube nzima ukuhambahamba.

Abantu abaninzi bakufumanisa kuluncedo ukuthetha nogqirha wezempilo yengqondo xa iimpawu zabo zichaphazela impilo yabo yengqondo kunye nendlela abacinga ngayo ngemizimba yabo. Ngenxa yokuba la maqhuqhuva, afana neenduli kunye neemphawu zokuzalwa, ngamanye amaxesha anokubonakala kwabanye, unokuziva uneentloni okanye uneentloni ngenkangeleko yakho. Ugqirha unokukunceda ulawule ezi mvakalelo kunye nazo naziphi na iimpawu ezikwenza ungakhululeki.

Ndifanele ndimbone nini ugqirha?

Ukuba uneempawu ze-NF1, ingakumbi amabala angaphezu kwesithandathu e-cafe au lait, utshintsho olungachazwanga lolusu, okanye utshintsho lombono, bona ugqirha ngoko nangoko. Ukuba sele unyangwa i-NF1, xelela ugqirha wakho ukuba iimpawu, ezinje ngentlungu, ziyanda okanye ziyanda.

Ukongeza, kubalulekile ukuba uhlolwe ngugqirha ubuncinane kanye ngonyaka . Oku kunokunceda ukuqinisekisa ukuba la malungu omzimba wakho alandelayo anokuchaphazeleka yi-NF1 asebenza kakuhle:

• Amehlo
• Inkqubo yemithambo-luvo
• Ulusu
• Inkqubo yentliziyo
• Umqolo

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa usiya kugqirha, ungabuza imibuzo efana nale:

• Yintoni endimele ndiyilindele xa ndixilongwa ukuba ndine-(NF1)?
• Ngaba abantwana bam bexesha elizayo banokulizuza njengelifa eli tyala?
• Loluphi unyango olucebisayo? Ngaba kukho naziphi na iziphumo ebezingalindelekanga?
• Ngaba iithumba zingakhula kwakhona emva kokuba zisusiwe?
• Kufuneka ndibuye kangaphi kwixesha lokulandela amadinga?

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Uhlobo lwe-Neurofibromatosis 1 (NF1) lolona hlobo luqhelekileyo lwe-neurofibromatosis. Ingachaphazela iindawo ezininzi zomzimba wakho, ingakumbi ulusu lwakho kunye nenkqubo yemithambo-luvo. Iimpawu zakho zinokuchaphazela ubomi bakho bemihla ngemihla kunye nendlela oziva ngayo ngomzimba wakho. Kodwa ungakhathazeki. Iqela lakho lezonyango linokukunceda ufumane unyango olufanelekileyo kwimeko yakho. Ukuba iimpawu zakho zichaphazela ukuzithemba kwakho, ungakufumanisa kuluncedo ukuthetha nomcebisi wezempilo yengqondo . Ukuba sele uyazi ukuba une-NF1 kwaye uceba ukuqala usapho, ungalibali ukuthetha nogqirha wakho malunga nengcebiso yemfuza.

Awuwedwa, baninzi abantu abanokukunceda kolu hambo.