Ingabe unamabala esikhumbeni sakho noma amaqhubu emzimbeni wakho? Lokhu kungaba yi-Neurofibromatosis Type 1 (NF1)!

Namuhla sizokhuluma ngesimo esiyinkimbinkimbi kancane, kodwa esingabaluleka kubantu abaningi. Sisibiza ngokuthi i-Neurofibromatosis Type 1, noma (NF1) ngamafuphi. Kungenzeka ukuthi awukaze uzwe ngaleli gama. Kodwa ake sixoxe ngakho kalula, ngendlela ongayiqonda.

Kuyini i-Neurofibromatosis Type 1 (NF1)?

Kalula nje, i-(NF1) yisimo esithinta isikhumba sakho kanye nohlelo lwakho lwezinzwa (okungukuthi, ubuchopho bakho , umgogodla , kanye nazo zonke ezinye izinzwa). Lesi yisimo esibangela ushintsho oluncane endleleni amanye amangqamuzana akhula ngayo emzimbeni wethu. Lokhu kubangela ukwakheka kwezimila ezingezona umdlavuza (ezingenobungozi). Lezi zibizwa ngokuthi ama-neurofibromas . Lezi zimila zakheka ezinhlungwini ebuchosheni bakho, emgogodleni, kanye nasesikhumbeni. Esinye sezimpawu eziyinhloko ezibonakala kubantu abane-(NF1) ukuthi banezindawo eziningi ze-cafe au lait esikhumbeni sabo. Lesi simo singathinta namehlo namathambo. Ngezinye izikhathi odokotela basibiza nangokuthi yisifo i-Von Recklinghausen, okungenzeka ukuthi uke wakuzwa.

Ivame kangakanani i-Neurofibromatosis Type 1 (NF1)?

Lolu uhlobo oluvame kakhulu lwe-neurofibromatosis. Eqinisweni, ama-96% azo zonke iziguli ze-neurofibromatosis ane-NF1. Emhlabeni wonke, kulinganiselwa ukuthi cishe ingane eyodwa kwezingu-3,000 ezizalwa minyaka yonke ine-NF1.

Ziyini izimpawu ze-NF1?

Izimpawu ze-(NF1) zibangelwa kakhulu ukucindezelwa kwemizwa. Bona ukuthi lezi zimpawu zizwakala zijwayelekile yini kuwe:

• Izindawo ezingaphezu kweziyisithupha ze-café au lait: Lezi zibonakala njengezindawo ezisicaba, ezinsundu kancane kuya konsundu omnyama esikhumbeni, ezifana nezimpawu zokuzalwa .
• Ama-neurofibroma amabili noma ngaphezulu ngaphansi kwesikhumba: Lawa mathumba angakhula noma kuphi emzimbeni. Angaba mancane njenge-pea noma abe makhulu. Angase abe mnene uma uwathinta noma abe lukhuni kancane. Ngokuvamile, isikhumba esizungeze la mathumba simnyama kunombala wesikhumba ojwayelekile.
• Kubukeka njengamabala amancane (amabala) emakhwapheni, embotsheni, futhi ngezinye izikhathi ngaphansi kwamabele.
• Ukwakheka kwamaqhubu amancane ( amaqhubu e-Lisch) ku-iris noma izimila ze-optic nerve (i-optic glioma) kanye nokukhubazeka kokubona.
• Ukukhubazeka ekukhuleni kwamathambo:Isibonelo, kungase kube nezinto ezifana ne-scoliosis noma amathambo emilenze egobile, ikhanda elikhulu kunejwayelekile (i-macrocephaly), kanye nobude obufushane.
• Ukuntuleka kokunaka/ukuphazamiseka kokusebenza ngokweqile ( ADHD ) .
• Ubuhlungu ezindaweni lapho izimila zakheke khona, ubunzima bokuhambahamba, kanye nobunzima bokusebenza ezithweni ezifanele.

Lezi zimpawu zingaba mnene kakhulu kwabanye abantu, futhi zingathinta abanye kakhulu. Futhi, akuzona zonke lezi zimpawu ezikhona kusukela ekuzalweni. Zivela ngezikhathi ezahlukene kukho konke ukuphila. Ngakho-ke, indlela ezithinta ngayo umuntu ngamunye ihlukile.

Yini ebangela i-Neurofibromatosis Type 1 (NF1)?

Imbangela eyinhloko ye-NF1 ushintsho kwelinye lamajini ethu, elibizwa ngokuthi ukuguqulwa kwezakhi zofuzo. Leli jini libizwa ngokuthi i-Neurofibromin 1 gene. Leli jini le-Neurofibromin 1 gene litshela umzimba wethu ukuthi wenze iphrotheni ebizwa ngokuthi i-neurofibromin. Le phrotheni ibaluleke kakhulu ngoba ilawula ukuthi amaseli ahlukana kangaki nokuthi enza amakhophi amangaki. Ukuze kube sobala, leli yiphrotheni evimbela ukwakheka kwama-tumors (i-tumor suppressor) .

Ngakho-ke, lapho umzimba ungatholi imiyalelo efanele yokwenza le phrotheni ye-neurofibromin, amanye amaseli awahlukani kahle futhi aphindaphindeke. Esikhundleni salokho, enza amakhophi amaningi kunalokho akudingayo. Yilapho kwakheka khona amathumba. Ithumba liyinqwaba yezicubu eziminyene ezakhiwa inani elikhulu lamaseli angajwayelekile.

Ungayithola njengefa le-gene mutation komunye wabazali bakho. Lokhu kubizwa ngokuthi i-autosomal dominant pattern of inheritance . Kodwa-ke, ungaba nalokhu kuguquka kwezakhi zofuzo noma ngabe akekho emndenini wakho onalesi simo. Cishe ingxenye yabantu abane-NF1 bayithuthukisa ngokuzenzekelayo. Lokhu kusho ukuthi ukuguquka kwezakhi zofuzo kwenzeka ngengozi futhi akuzuzwa njengefa kunoma ubani.

Yiziphi izinkinga ezingaba khona ze-Neurofibromatosis Type 1 (NF1)?

(NF1) ingabangela izinkinga ezithile. Nazi ezinye zazo:

• Ungase ulahlekelwe ukubona.
• Kungase kube nokuqhekeka noma ukukhubazeka ekukhuleni kwamathambo (i-dysplasia).
• Imizwa ingalimala.
• Umfutho wegazi ophezulu (umfutho wegazi ophakeme) ungase ube khona.
• Ngisho nangemva kokwelashwa nokususwa, izimila zingaphinde zivele.
• Ukuzethemba kungase kwehle.

Okubaluleke kakhulu, ezinye zezimila ezikhula ku-NF1 zinomdlavuza.Kungenzeka ukuthi kungaba yinkinga. Ngakho-ke, kubaluleke kakhulu ukuqaphela lokhu.

I-NF1 itholakala kanjani?

Udokotela uzokuxilonga bese ekwenza izivivinyo ezidingekayo ukuze anqume ukuthi une-NF1 yini. Uzoqala ngokukwenza ukuhlolwa ngokomzimba, abuze ngezimpawu zakho, bese ethola ukuthi zikuthinta kanjani.

Ngaphezu kwalokho, ungenza futhi izivivinyo ezinjengalezi:

• Ukuhlolwa kwezithombe: Isibonelo, i-MRI, i-X-ray, noma i-CT scan.
• Ukuhlolwa kofuzo.
• Ukuhlolwa kwamehlo.

Iningi labantu litholakala line-NF1 lapho selikhulile. Lokhu kungenxa yokuthi izimpawu azibonakali zonke ngesikhathi esisodwa, kodwa zikhula kancane kancane ngokuhamba kwesikhathi. Isibonelo, ungase ube namabala e-cafe au lait lapho uzalwa, noma angavela eminyakeni embalwa yokuqala. Kodwa-ke, kungathatha iminyaka emi-3-5 ukuthi amabala avele emakhwapheni nasezimbotsheni. Ama-neurofibroma uhlobo lwesimila esivame ukubonakala lapho selikhulile. Ngokuvamile, abantu bafuna usizo lwezokwelapha ukuze bashintshe umbono.

Iphathwa kanjani i-Neurofibromatosis Type 1 (NF1)?

Okwamanje akukho ukwelashwa kwalesi simo (NF1). Kodwa-ke, udokotela angakusiza ukuphatha izimpawu zakho. Izinketho zokwelapha ziyahlukahluka kuye ngokuthi izimpawu zakho zikuthinta kanjani. Nazi ezinye zezindlela zokwelapha ezitholakalayo:

• Ukuhlinzwa kokususwa kwesimila.
• Ukwelashwa ngamakhemikhali kuyindlela yokwelapha izimila eseziphenduke umdlavuza.
• Izinto ezifana nokuhlinzwa noma izikhonkwane zokubopha izinkinga zokukhula kwamathambo.
• Imithi yokulawula ukukhula kwesimila: Isibonelo, umuthi obizwa ngokuthi i-selumetinib.
• Imithi yokulawula ezinye izimpawu: Isibonelo, imithi ye-ADHD.

Uma une-NF1, kubalulekile ukubona udokotela okungenani kanye ngonyaka ukuze kuhlolwe impilo yakho. Kufanele futhi uhlolwe amehlo njalo ngonyaka. Ngaphezu kwalokho, kubaluleke kakhulu ukuthi uhlolwe umfutho wegazi okungenani kanye ngonyaka ukuze kuhlolwe izinkinga.

Ingabe udinga ukucabanga ngempilo yengqondo?

Yebo, impela. Kuvamile ukuthi lesi simo sikuthinte ngokomzwelo. Abantu abaningi bathola impumuzo ngokukhuluma nochwepheshe wezempilo yengqondo . Noma, ukujoyina iqembu lokusekela lapho abantu abanezimo ezifanayo behlangana khona kungaba usizo kakhulu. Ngoba ngezinye izikhathi, lapho lokhu kukhula namabala kuvela ezindaweni ezibonakalayo kwabanye, ungazizwa ukhathazekile ngokubukeka kwakho. Ngakho-ke, kuhle kakhulu ukukhuluma nodokotela noma umeluleki wezempilo yengqondo ngezinto ezinjengalezi.

Ingabe ikhona imiphumela emibi yokwelashwa?

Yebo, imiphumela emibi ingahluka kuye ngohlobo lokwelashwa. Udokotela wakho uzokuchazela lokhu ngaphambi kokuba uqale ukwelashwa. Isibonelo, uma uhlinzwa, ungase uzwe ukopha kanye nokutheleleka. Uma uphathwa ngamakhemikhali, ungase uzwe ukuqothuka kwezinwele kanye nokukhathala.

Ingabe i-Neurofibromatosis Type 1 (NF1) ingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela i-NF1. Kodwa-ke, uma uhlela ukuqala umndeni, okungukuthi, uma unethemba lokuba nomntwana, ungakhuluma nodokotela ubuze ngokwelulekwa ngofuzo . Lokhu kungakunika ukuqonda okungcono ngamathuba okuba nomntwana onesifo sofuzo njenge-NF1.

Iyini isikhathi sokuphila somuntu one-NF1?

Ngokuvamile, uma izimpawu zakho zingenzima kakhulu, i-NF1 ayithinti ngqo isikhathi sakho sokuphila. Iningi labantu liphila isikhathi esijwayelekile sokuphila. Kodwa-ke, uma kuvela izinkinga (nakuba zingavamile), ikakhulukazi uma kunezimila eziningi kakhulu ukuba zisuswe ngokuphepha ngokuhlinzwa, noma uma izimila ziphenduka umdlavuza, zingathinta isikhathi sakho sokuphila (isibikezelo).

Yini ongayilindela uma uthola ukuthi une-NF1?

(NF1) yisimo esithinta abantu ngendlela ehlukile. Abanye abantu bangase bangabi nezimpawu ezinkulu ngokwanele ukuthi zingaphazamisa imisebenzi yansuku zonke. Abanye bangase babe nezinkinga zokubona noma ubuhlungu obenza kube nzima ukuhambahamba.

Abantu abaningi bakuthola kuwusizo ukukhuluma nochwepheshe wezempilo yengqondo lapho izimpawu zabo zithinta impilo yabo yengqondo nendlela abacabanga ngayo ngemizimba yabo. Ngenxa yokuthi lokhu kukhula, njengemivukuzane kanye nezimpawu zokuzalwa, ngezinye izikhathi kungabonakala kwabanye, ungase uzizwe unamahloni noma unamahloni ngokubukeka kwakho. Udokotela angakusiza ukuthi ulawule le mizwa kanye nanoma yiziphi izimpawu ezikwenza ungakhululeki.

Kufanele ngimbone nini udokotela?

Uma unezimpawu ze-NF1, ikakhulukazi izindawo ezingaphezu kweziyisithupha ze-cafe au lait, izinguquko zesikhumba ezingachazeki, noma izinguquko zombono, bona udokotela ngokushesha. Uma usuvele welashwa i-NF1, tshela udokotela wakho uma izimpawu, njengobuhlungu, zikhula noma ziba zimbi kakhulu.

Ngaphezu kwalokho, kubalulekile ukuhlolwa kwezokwelapha okungenani kanye ngonyaka . Lokhu kungasiza ekuqinisekiseni ukuthi izingxenye ezilandelayo zomzimba wakho ezingase zithinteke yi-NF1 zisebenza kahle:

• Amehlo
• Uhlelo lwezinzwa
• Isikhumba
• Uhlelo lwenhliziyo
• Umgogodla

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma uya kudokotela, ungabuza imibuzo efana nale:

• Yini okufanele ngiyilindele ngokuxilongwa kwe-(NF1)?
• Ingabe izingane zami zesikhathi esizayo zingalizuza leli lungelo?
• Yimuphi ukwelashwa owuncomayo? Ingabe ikhona imiphumela emibi?
• Ingabe izimila zingaphinde zikhule ngemva kokususwa?
• Kukangaki ngidinga ukubuya ukuze ngithole ama-aphoyintimenti okulandelela?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Neurofibromatosis Uhlobo 1 (NF1) uhlobo oluvame kakhulu lwe-neurofibromatosis. Ingathinta izingxenye eziningi zomzimba wakho, ikakhulukazi isikhumba sakho kanye nesistimu yezinzwa. Izimpawu zakho zingathinta impilo yakho yansuku zonke kanye nendlela ozizwa ngayo ngomzimba wakho. Kodwa ungakhathazeki. Ithimba lakho lezokwelapha lingakusiza ukuthola ukwelashwa okungcono kakhulu kwesimo sakho. Uma izimpawu zakho zithinta ukuzethemba kwakho, ungase ukuthole kuwusizo ukukhuluma nomeluleki wezempilo yengqondo . Uma usuvele wazi ukuthi une-NF1 futhi uhlela ukuqala umndeni, ungakhohlwa ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo.

Awuwedwa, baningi abantu abazokusiza kulolu hambo.