Ðe teƒe aɖewo le wò ŋutigbalẽ ŋu alo ƒunukpeƒewo le wò ŋutilã ŋua? Esia ate ŋu anye Neurofibromatosis Type 1 (NF1)!

Egbea míele nu ƒom tso nɔnɔme aɖe si sesẽ vie, gake ate ŋu anye nu vevi na ame geɖe ŋu. Míeyɔa esia be Neurofibromatosis Type 1, alo (NF1) kpuie. Ðewohĩ mèse ŋkɔ sia ŋkɔ kpɔ o. Gake mina míaƒo nu tso eŋu bɔbɔe, le mɔ si gɔme nàte ŋu ase nu.

Nukae nye Neurofibromatosis Ƒomevi 1 (NF1)?

Kpuie ko la, (NF1) nye dɔléle si gblẽa nu le wò ŋutigbalẽ kple lãmekawo ŋu (si fia be wò ahɔhɔ̃ , wò aklã , kple lãmeka bubuawo katã). Esia nye nɔnɔme si nana tɔtrɔ sue aɖe vaa alesi míaƒe ŋutilã me lãmenugbagbevi aɖewo tsinae me. Esia nana be dɔdzẽ siwo menye kansa o (siwo me dɔlékui mele o) dona. Woyɔa esiawo be neurofibromas . Dɔdzẽ siawo dzɔna ɖe lãmeka siwo le wò ahɔhɔ̃, aklã, kple ŋutigbalẽ me dzi. Dzesi vevi siwo wokpɔna le amesiwo ŋu (NF1) le ŋu dometɔ ɖekae nye be café au lait ƒe teƒe geɖe le woƒe ŋutigbalẽ ŋu. Nɔnɔme sia ate ŋu agblẽ nu le ŋkuwo kple ƒuwo hã ŋu. Ɣeaɖewoɣi la, ɖɔktawo hã yɔnɛ be Von Recklinghausen ƒe dɔléle, si ɖewohĩ èse.

Aleke gbegbee Neurofibromatosis Type 1 (NF1) bɔe?

Esiae nye ahɔhɔ̃mekawo ƒe dɔléle ƒomevi si bɔ wu. Le nyateƒe me la, NF1 le neurofibromatosis dɔnɔwo katã ƒe 96% ŋu. Le xexeame katã la, wobu akɔnta be NF1 le ɖevi 3,000 ɖesiaɖe si wodzi ƒe sia ƒe dometɔ ɖeka ŋu.

Nukae nye NF1 ƒe dzesiwo?

Lãmetsiŋusẽ ƒe tete koŋ gbɔe (NF1) ƒe dzesiwo tsona. Kpɔe ɖa be dzesi siawo ɖi nusi nènya nyuie hã:

• Café au lait ƒe teƒe siwo wu ade: Esiawo dzena abe teƒe gbadza siwo le gbadzaa, siwo ƒe amadede nye aŋutiɖiɖi va ɖo aŋutiɖiɖi dzẽ ene le ŋutigbalẽa ŋu, siwo ɖi dzigbedzesiwo .
• Neurofibromas eve alo esi wu nenema le ŋutigbalẽa te: Dɔdzẽ siawo ate ŋu adze le ŋutilãa ƒe akpa ɖesiaɖe. Woate ŋu anɔ sue abe pea ene alo alolo wu. Woate ŋu afa ne woka asi wo ŋu alo woasesẽ vie. Zi geɖe la, ŋutigbalẽ si ƒo xlã dɔdzẽ siawo doa viviti wu wò ŋutigbalẽ ƒe amadede si sɔ.
• Edzena abe teƒe suesuesuewo (freckles) le abɔta, akɔta, kple ɣeaɖewoɣi le no te ene.
• Kpe suesuesuewo (Lisch nodules ) ƒe wɔwɔme le ŋkume ƒe lãkusi alo dɔdzẽ siwo le ŋku ƒe lãkusi me (optic glioma) eye le esia ta ŋku ƒe nukpɔkpɔ ƒe gbɔdzɔgbɔdzɔ.
• Nusiwo mesɔ o le ƒu ƒe tsitsi me:Le kpɔɖeŋu me, nuwo ate ŋu anɔ anyi abe scoliosis alo afɔ ƒe ƒu siwo bɔbɔ, ta si lolo wu alesi wòle (macrocephaly), kple eƒe kɔkɔme kpui.
• Susu ƒe dɔmawɔmawɔ nyuie/ nuwɔwɔ fũu akpa ƒe dɔléle ( ADHD ) .
• Vevesese le teƒe siwo dɔdzẽawo dzɔ le, ʋuʋu sesẽ, kple dɔwɔwɔ sesẽ le ŋutinu siwo ŋu nya ku ɖo me.

Dzesi siawo ate ŋu anɔ bɔbɔe ŋutɔ na ame aɖewo, eye woate ŋu agblẽ nu le ame bubuwo ŋu vevie ŋutɔ. Azɔ hã, menye dzesi siawo katãe dzena tso wo dziɣi o. Wodzena le ɣeyiɣi vovovowo me le agbemeŋkekewo katã me. Eyata ale si wòkpɔa ŋusẽ ɖe ame ɖesiaɖe dzii la to vovo.

Nukae hea Neurofibromatosis Type 1 (NF1) vɛ?

Nu vevitɔ si gbɔ NF1 tsonae nye tɔtrɔ si vaa míaƒe domenyiŋusẽfianu ɖeka me, si woyɔna be domenyiŋusẽfianu ƒe tɔtrɔ. Woyɔa domenyiŋusẽfianu sia be Neurofibromin 1 domenyiŋusẽfianu. Domenyiŋusẽfianu sia si nye Neurofibromin 1 gblɔna na míaƒe ŋutilã be wòawɔ protein aɖe si woyɔna be neurofibromin. Protein sia le vevie ŋutɔ elabena ekpɔa ŋusẽ ɖe lãmenugbagbeviwo ƒe mama zi nenie kple kɔpi agbɔsɔsɔme si wowɔna dzi. Ne míagblɔe tututu la, esia nye protein si xea mɔ na dɔdzẽwo ƒe dzɔdzɔ (tumor suppressor) .

Eyata ne ŋutilãa mekpɔ mɔfiame nyuitɔ siwo woatsɔ awɔ neurofibromin protein sia o la, lãmenugbagbevi aɖewo mema nyuie o eye wogbugbɔna. Ke boŋ wowɔa eƒe kɔpi geɖe wu esi hiã. Ɣemaɣie dɔdzẽwo dzɔna. Tume nye lãmeka gbogbo aɖe si lãmenugbagbevi gbogbo aɖewo siwo mesɔ o wɔ.

Àte ŋu anyi domenyiŋusẽfianu ƒe tɔtrɔ sia ƒe dome tso dziwòlawo dometɔ ɖeka gbɔ. Woyɔa esia be domenyinyi ƒe ɖoɖo si ɖua ame dzi le autosomal . Gake domenyiŋusẽfianu ƒe tɔtrɔ sia ate ŋu anɔ ŋuwò ne dɔléle sia mele wò ƒomea me o gɔ̃ hã. Ame siwo ŋu NF1 le ƒe afã lɔƒo xɔae le wo ɖokui si. Esia fia be domenyiŋusẽfianu ƒe tɔtrɔa dzɔna le vome eye womenyie tso ame aɖeke gbɔ o.

Nukawoe nye kuxi siwo ate ŋu ado tso Neurofibromatosis Type 1 (NF1) me?

(NF1) ate ŋu ahe kuxi aɖewo vɛ. Wo dometɔ aɖewoe nye esi:

• Ðewohĩ wò ŋkuwo magate ŋu akpɔ nu nyuie o.
• Ƒu ƒe gbagbã alo nusiwo mesɔ o le ƒu ƒe tsitsi me (dysplasia) ate ŋu adzɔ.
• Lãmetsiŋusẽwo ate ŋu agblẽ.
• Ʋusɔgbɔdɔ (ʋusɔgbɔdɔ) ate ŋu adzɔ.
• Ne woda dɔ na wo heɖe wo ɖa vɔ gɔ̃ hã la, dɔdzẽ ate ŋu agava.
• Bubudede ame ɖokui ŋu ate ŋu aɖe akpɔtɔ.

Vevietɔ wu la, dɔdzẽ siwo dona le NF1 me dometɔ aɖewo nye kansa.Ate ŋu adzɔ be ate ŋu ava zu kuxi. Eyata ele vevie ŋutɔ be míaɖɔ ŋu ɖo le esia ŋu.

Aleke wowɔa dea dzesi NF1?

Ðɔkta aɖe ado wò kpɔ eye wòawɔ dodokpɔ siwo hiã be wòakpɔe ɖa be NF1 le ŋuwò hã. Awɔ ŋutilãmedɔ gbã, abia wò dzesiwo, eye wòanya alesi wògblẽa nu le ŋuwòe.

Tsɔ kpe ɖe eŋu la, àte ŋu awɔ dodokpɔwo abe esiawo ene hã:

• Nɔnɔmetatawo dodokpɔ: Le kpɔɖeŋu me, MRI, X-ray, alo CT scan.
• Domenyiŋusẽfianu dodokpɔ.
• Ŋkudodokpɔ aɖe.

Wokpɔa NF1 le ame akpa gãtɔ ŋu le woƒe tsitsime. Esia le alea elabena dzesiawo medzena zi ɖeka o, ke boŋ wova doa mo ɖa vivivi le ɣeyiɣi aɖe megbe. Le kpɔɖeŋu me, café au lait teƒewo ate ŋu anɔ ŋuwò le vidzidzi me, alo woate ŋu adze le ƒe ʋɛ gbãtɔawo me. Gake ate ŋu axɔ ƒe 3-5 hafi ʋuʋudedi nadze le akɔta kple akɔta. Neurofibromas nye dɔdzẽ ƒomevi aɖe si wokpɔna zi geɖe le ame tsitsiwo me. Zi geɖe la, amewo yia atikewɔƒe hena ŋku ƒe tɔtrɔ.

Aleke wodaa Neurofibromatosis Type 1 (NF1)e?

Fifia la, womekpɔ atike aɖeke na dɔlélea o (NF1). Ke hã, ɖɔkta ate ŋu akpe ɖe ŋuwò nàɖu wò dzesiwo dzi. Atikewɔwɔ ƒe tiatia vovovowo le alesi wò dzesiwo kpɔa ŋusẽ ɖe dziwòe nu. Atikewɔwɔ siwo li dometɔ aɖewoe nye esi:

• Amekoko be woaɖe dɔdzẽ ɖa.
• Atikewɔmɔnu nye dɔdzẽ siwo va zu kansa la dada.
• Nuwo abe amekoko alo ƒu ƒe tsitsi ƒe masɔmasɔwo ƒe akɔtaɖonuwo ene.
• Atike siwo woatsɔ axe mɔ ɖe dɔdzẽ ƒe tsitsi nu: Le kpɔɖeŋu me, atike aɖe si woyɔna be selumetinib.
• Atike siwo woatsɔ aɖu dzesi bubuwo dzi: Le kpɔɖeŋu me, atike siwo wozãna na ADHD.

Ne NF1 le ŋuwò la, ele vevie be nàyi ɖɔkta gbɔ zi ɖeka ya teti le ƒea me be woado wò kpɔ bliboe. Ele be woado ŋkudɔ hã na wò ƒe sia ƒe. Tsɔ kpe ɖe eŋu la, ele vevie ŋutɔ be woado wò ʋu ƒe sisi kpɔ zi ɖeka ya teti le ƒea me be woakpɔe ɖa be kuxi aɖewo le ŋuwò hã.

Ðe wòhiã be nàbu susu ƒe lãmesẽ hã ŋua?

Ẽ, nyateƒee. Ebɔ be nɔnɔme sia nakpɔ ŋusẽ ɖe dziwò le seselelãme gome. Ame geɖe kpɔa gbɔdzɔe ne woƒo nu kple susumedɔdala aɖe . Alo, ne ège ɖe kpekpeɖeŋunaha aɖe si me amesiwo ŋu nɔnɔme mawo tɔgbe le ƒoa ƒu ɖo hã ate ŋu akpe ɖe ŋuwò ŋutɔ. Elabena ɣeaɖewoɣi, ne tsitsi kple teƒe siawo dze le teƒe siwo ame bubuwo kpɔna la, àte ŋu atsi dzimaɖi ɖe wò dzedzeme ŋu. Eyata enyo ŋutɔ be nàƒo nu kple ɖɔkta alo susumedɔléle ŋuti aɖaŋuɖola tso nu siawo tɔgbi ŋu.

Ðe atikewɔwɔa ƒe nugbegblẽ aɖewo lia?

Ẽ, eƒe nugbegblẽ le ame ŋu ate ŋu ato vovo le atikewɔwɔ ƒomevi si wozãna nu. Wò ɖɔkta aɖe nusiawo me na wò hafi nàdze atikewɔwɔ gɔme. Le kpɔɖeŋu me, ne wowɔ dɔ na wò la, ʋu ate ŋu ado le ŋuwò ahaxɔ dɔlékuiwo. Ne wozã atike na wò la, àte ŋu akpɔ taɖa ƒe vuvu kple ɖeɖiteameŋu.

Ðe woate ŋu axe mɔ ɖe Neurofibromatosis Type 1 (NF1) nua?

Mɔ aɖeke meli si wonya fifia si dzi woato axe mɔ ɖe NF1 nu o. Gake ne èle ɖoɖo wɔm be yeaɖo ƒome anyi, si fia be ne èle mɔ kpɔm be yeadzi vi la, àte ŋu aƒo nu kple ɖɔkta abia nya tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ŋu . Esia ate ŋu ana nàse mɔnukpɔkpɔ siwo li be nàdzi vi si ŋu domenyiŋusẽfianu ƒe dɔléle abe NF1 ene le la gɔme nyuie wu.

Nukae nye ame si ŋu NF1 le ƒe agbenɔƒe?

Zi geɖe la, ne wò dzesiawo mesẽ o la, NF1 mekpɔa ŋusẽ ɖe wò agbenɔƒe dzi tẽ o. Ame akpa gãtɔ nɔa agbe si sɔ. Gake ne kuxiwo do mo ɖa (togbɔ be womebɔ o hã), vevietɔ ne dɔdzẽ sɔ gbɔ akpa be woaɖe wo ɖa dedie to amekoko me, alo ne dɔdzẽawo trɔ zu kansa la, ate ŋu akpɔ ŋusẽ ɖe wò agbenɔƒe dzi (nyagblɔɖi).

Nukae nàkpɔ mɔ na ne wokpɔ NF1 le ŋuwò?

(NF1) nye nɔnɔme si gblẽa nu le amewo ŋu le mɔ vovovowo nu. Ðewohĩ dzesi siwo nu sẽ ale gbegbe be woado kplamatse gbesiagbedɔwo manɔ ame aɖewo ŋu o. Ame bubuwo ate ŋu akpɔ kuxiwo alo vevesese si wɔnɛ be esesẽna be woaʋuʋu.

Ame geɖe kpɔnɛ be eɖea vi be yewoaƒo nu kple tagbɔdɔdala aɖe ne yewoƒe dzesiwo le ŋusẽ kpɔm ɖe yewoƒe susu ƒe lãmesẽ kple alesi yewobua yewoƒe ŋutilã ŋui dzi. Esi wònye be tsitsi siawo, abe ʋetsuviwo kple dzigbedzesiwo ene, te ŋu dzena na ame bubuwo ɣeaɖewoɣi ta la, ŋu ate ŋu akpe wò alo ŋu akpe wò le wò dzedzeme ta. Ðɔkta ate ŋu akpe ɖe ŋuwò nàɖu seselelãme siawo kple dzesi ɖesiaɖe si le fu ɖem na wò la dzi.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Ne NF1 ƒe dzesiwo le ŋuwò, vevietɔ café au lait ƒe teƒe siwo wu ade, ŋutigbalẽ ƒe tɔtrɔ si womenya o, alo ŋku ƒe tɔtrɔ la, yi ɖɔkta gbɔ enumake. Ne wole NF1 dam na wò xoxo la, gblɔe na wò ɖɔkta ne dzesiawo, abe vevesese ene, dzi ɖe edzi alo le sesẽm ɖe edzi.

Tsɔ kpe ɖe eŋu la, ele vevie be woado ame kpɔ zi ɖeka ya teti le ƒea me . Esia ate ŋu akpe ɖe ŋuwò nàkpɔ egbɔ be wò ŋutilã ƒe akpa siwo gbɔna siwo dzi NF1 ate ŋu akpɔ ŋusẽ ɖo la le dɔ wɔm nyuie:

• Ŋkuwo
• Lãmetsiŋusẽ ƒe dɔwɔwɔ
• Ŋutigbalẽ
• Dzitodzito me ʋukawo ƒe dɔwɔwɔ
• Akɔta ƒe akɔta

Nya kawoe wòle be mabia nye ɖɔkta?

Ne èyi ɖɔkta gbɔ la, àte ŋu abia nya siawo tɔgbe:

• Nukae wòle be makpɔ mɔ na ne wokpɔ dɔlélea le (NF1) ŋu?
• Ðe vinye siwo ava nye vinyewo ate ŋu anyi nɔnɔme sia ƒe domea?
• Atikewɔwɔ kae nèkafu? Ðe eƒe nugbegblẽ le ame ŋu aɖewo lia?
• Ðe dɔdzẽwo ate ŋu agatsi ake ne woɖe wo ɖaa?
• Zi nenie wòhiã be matrɔ ava hena ɣeyiɣi siwo woawɔ be makplɔe ɖo?

Mlɔeba la, nusiwo dzi wòle be woaɖo ŋkui (Take-Home Message) .

Neurofibromatosis Type 1 (NF1) ye nye ahɔhɔ̃mekawo ƒe dɔléle ƒomevi si bɔ wu. Ate ŋu agblẽ nu le wò ŋutilã ƒe akpa geɖe ŋu, vevietɔ wò ŋutigbalẽ kple wò lãmekawo. Wò dzesiwo ate ŋu akpɔ ŋusẽ ɖe wò gbesiagbegbenɔnɔ kple ale si nèsena le ɖokuiwò me ɖe wò ŋutilã ŋu dzi. Gake mègatsi dzi o. Wò atikewɔlawo ƒe ƒuƒoƒo ate ŋu akpe ɖe ŋuwò nàkpɔ atike nyuitɔ kekeake na wò dɔlélea. Ne wò dzesiwo le ŋusẽ kpɔm ɖe bubudede ɖokuiwò ŋu la, àte ŋu akpɔe be anyo be yeaƒo nu kple susumedɔléle ŋuti aɖaŋuɖola aɖe . Ne ènya xoxo be NF1 le ye ŋu eye nèle ɖoɖo wɔm be yeaɖo ƒome anyi la, mègaŋlɔ be be yeaƒo nu kple yeƒe ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ŋu o.

Menye wò ɖeka koe o, ame geɖewo li siwo akpe ɖe ŋuwò le mɔzɔzɔ sia me.