Ðe asrãdɔ sesẽ sia le viwò suea ŋua? Mina míasrɔ̃ nu tso Dravet Dɔlélea ŋu!

Aleke gbegbee nàvɔ̃ ne viwò sue, alo vidzĩ si mexɔ ƒe ɖeka haɖe o, xɔ alɔ̃ sesẽ kasia eye asrã le eŋu eye wòxɔ wu miniti atɔ̃? Ate ŋu anye dɔléle aɖe si mebɔ kura o eye wòate ŋu asesẽ ŋutɔ si woyɔna be Dravet Syndrome ƒe dzesi gbãtɔ. Le nɔnɔme sia me la, alɔ̃madɔmadɔ ƒomevi vovovowo ate ŋu axɔ ɖevi suewo. Menye ema ɖeɖeko o, dzesi bubu geɖewo hã ate ŋu anɔ wo ŋu, abe nuƒoƒo sesẽ, azɔlizɔzɔ ƒe kuxiwo, kple nusɔsrɔ̃ ƒe megbetsitsi ene. Mègatsi dzi o, mina míaƒo nu tso esia ŋu tsitotsito.

Nukae nye Dravet Dɔléle ƒe dzesiwo?

Ðevi si ŋu Dravet Dɔlélea le ƒe dzesi gbãtɔe nye alɔ̃madɔmadɔ . Zi geɖe la, esia dzɔna hafi vidzĩa xɔ ƒe ɖeka. Alɔ̃madɔmadɔ gbãtɔ sia ate ŋu adze ale:

• Ate ŋu axɔ wu miniti atɔ̃ .
• Zi geɖe la, edzɔna ne asrã, dɔléle bubu, alo nutome ƒe dzoxɔxɔ si nu sẽ.
• Lãmetsiwo ƒe tete si dzi womeɖu o (míeyɔa wo be ʋuʋudedi) ate ŋu adzɔ.
• Ate ŋu adze ŋutilã ƒe akpa ɖeka alo akpa evea siaa dzi.

Ne vidzĩ xɔ ƒe ɖeka la, alɔ̃madɔmadɔ ƒomevi bubuwo ate ŋu adzɔ. Esiawo ate ŋu adzɔ hã asrã manɔmee. Esia fia be alɔ̃madɔmadɔ ate ŋu adzɔ dzoxɔxɔ madzi ɖe edzi o. Alɔ̃madɔmadɔ ƒomevi vovovo siawoe nye:

• Absence seizures: Ame ƒe susu ƒe dɔwɔwɔ bu zi ɖeka, abe ɖe nètsi tre ɖe teƒe ɖeka ene. Gake esia nye ɣeyiɣi kpui aɖe ko.
• Atonic seizures: Lãmetsiwo megate ŋu ɖua wo dzi zi ɖeka o, si wɔnɛ be wòdzena abe ŋutilãa le lãmetutudɔ lém ene.
• Hemiclonic seizures: Lãmetsiwo ƒe ʋuʋu le ŋutilã ƒe akpa ɖeka ko.
• Focal seizures: Ate ŋu adzɔ be ame ƒe susu nabu ɣeyiɣi kpui aɖe, lãmekawo ƒe ŋusẽ magate ŋu aɖu ame dzi o, eye seselelãme si mebɔ o anɔ ame ŋu.
• Myoclonic seizures: Ʋuʋudedi suesuesue siwo dzena abe ɖe wole lãmekawo ʋuʋum ene kpata.
• Tonic-clonic seizures: Esiae nye alɔ̃madɔmadɔ ƒomevi si bɔ wu si míekpɔna. Ŋutilãa ʋuʋuna le mɔ si dzi womate ŋu aɖu o nu.

Tsɔ kpe ɖe alɔ̃madɔmadɔ ƒe dzesi siawo ŋu la, ɖevi siwo ŋu Dravet Syndrome le ate ŋu akpɔ dzesi bubuwo. Esiawo dometɔ aɖewoe nye:

• Tsitsi ƒe megbetsitsi: Woate ŋu akpɔ megbedede le gbegbɔgblɔ ƒe tsitsi me, vevietɔ le nuƒoƒo ƒe tsitsi me.
• Nuwɔna me kuxiwo: Ate ŋu awɔ nu adãtɔe ɣeaɖewoɣi.
• Ahɔhɔ̃mekawo ƒe tsitsi ƒe dɔlélewo: Le kpɔɖeŋu me, nɔnɔmewo abe `ADHD` (Attention Deficit Hyperactivity Disorder).
• Dadasɔ kple nuwɔwɔ aduadu ƒe kuxiwo: Ate ŋu asesẽ be woada asɔ nyuie ne wole zɔzɔm.
• Ʋuʋu ƒe kuxiwo: Àte ŋu ade dzesii be yeaʋuʋu alo yeƒe azɔlizɔzɔ meli ke o.
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ (hypotonia): Lãmetsiwo ƒe ʋuʋu dzi ɖena kpɔtɔna.
• Alɔ̃dɔdɔ ƒe kuxiwo: Nuwo abe alɔ̃madɔmadɔ, nyɔnyrɔ̃ enuenu ene.
• Tsitsi kple nunyiame ƒe kuxiwo: Nuwo abe lolo nyuie o, nuɖuɖudzroame.
• Dysautonomia: Esia fia be esesẽna be woaɖu nuwo abe ŋutilã ƒe dzoxɔxɔ, dzi ƒe tsotso, kple ʋu ƒe sisi ene dzi.

Nukae hea Dravet Dɔlélea vɛ?

Zi geɖe la, nusi koŋ gbɔ Dravet Dɔlélea tsonae nye domenyiŋusẽfianu ƒe tɔtrɔ le domenyiŋusẽfianu si woyɔna be `SCN1A` me . `SCN1A` domenyiŋusẽfianu sia gblɔna na míaƒe lãmenugbagbeviwo be woawɔ sodium mɔ siwo tsɔa sodium ions (sodium atɔm siwo me dzoxɔxɔ nyui le). Mɔ̃ siawo kpena ɖe míaƒe ahɔhɔ̃menugbagbeviwo ŋu wowɔa elektrikŋusẽ ƒe dzesiwo heɖoa wo ɖa.

Kpuie ko la, bu `SCN1A` domenyiŋusẽfianu sia be enye `nuɖaɖa ƒe nuɖaɖa` hena sodium mɔ siwo wɔa dɔ abe `agbo` ene na míaƒe ahɔhɔ̃menugbagbeviwo. Ne vodada sue aɖe le `nuɖaɖa` sia me, si nye domenyiŋusẽfianu ƒe tɔtrɔ la, `agbo` mawo mewɔa nu nyuie o. Emegbe gbedasiwo ƒe kaka le ahɔhɔ̃menugbagbeviwo dome, si nye `ahɔhɔ̃mekawo ƒe dɔwɔwɔ`, me gblẽna. Esia tae dzesiwo abe alɔ̃madɔmadɔ ene dzena ɖo.

Domenyiŋusẽfianue esia nyea?

Ẽ, Dravet Dɔlélea nye domenyiŋusẽfianu ƒe dɔléle . Gake zi geɖe la, enyea nɔnɔme si dzɔna ɣeaɖewoɣi. Eyae nye be edzɔna zi ɖeka, eye nɔnɔmea ƒe ƒome ŋutinya aɖeke menɔ anyi va yi o. Gake nudzɔdzɔ aɖewo li siwo me nɔnɔmea gblẽ nu le ƒomea me tɔ geɖe ŋu le dzidzime geɖe me.

Le Dravet ƒe domenyiŋusẽfianu ƒe dɔléle siwo mebɔ o me la, tɔtrɔa ate ŋu anɔ dzila ɖeka ƒe lãmenugbagbevi aɖewo ko me (woyɔa esia be `mosaicism`). Alo, woateŋu atsɔe tso dzidzime yi dzidzime le `autosomal dominant` ƒe nɔnɔme me. Esia fia be ɖevi ate ŋu anyi nɔnɔmea ƒe dome ne dzila ɖeka koe si nugbagbevi ƒe tɔtrɔ le gɔ̃ hã.

Gake nu ɖeka si dzi wòle be míaɖo ŋkui enye be menye amesiame si si `SCN1A` domenyiŋusẽfianu ƒe tɔtrɔ le lae axɔ Dravet Dɔléle ƒe dzesiwo o. Ðewohĩ nugbagbevi aɖewo ƒe tɔtrɔ sia le wo ŋu gake dzesi aɖeke mele wo ŋu kura o. Azɔ hã, Dravet Syndrome ƒe dzesiwo ate ŋu anɔ ame aɖewo ŋu gake `SCN1A` domenyiŋusẽfianu ƒe tɔtrɔ manɔ wo ŋu o.

Ðe afɔku tɔxɛ aɖewo li na esia?

Ne dziwòlawo dometɔ ɖeka alo ƒomea me tɔ bubu aɖe le asrãdɔ alo domenyiŋusẽfianu ƒe tɔtrɔ le `SCN1A` me la, àte ŋu anɔ afɔku me be nàxɔ nɔnɔme sia.

Nukawoe nye kuxi siwo ate ŋu ado tso Dravet Dɔlélea me?

Kuxi sesẽtɔ kekeake siwo ate ŋu ado tso nɔnɔme sia me ate ŋu ade ame ƒe agbe afɔku me . Wo dometɔ vevitɔwoe nye:

• Nuveviwɔame siwo alɔ̃madɔmadɔ hena vɛ.
• Status epilepticus: Esia nye nɔnɔme si me alɔ̃madɔmadɔ nɔa anyi ɖaa. Esia bia be woakpɔ atikewɔƒe enumake.
• Ku Kpata si Womeɖe O Le Aɖuɖɔtoedɔ (SUDEP) me.

Ðɔkta si le viwòa dam la aɖe nusiwo nye afɔku ƒe dzesi siawo me na wò eye wòawɔ ɖoɖo ɖe nusi nàwɔ ne nɔnɔme kpata aɖe hã ŋu.

Aleke nàwɔ anya Dravet Dɔlélea nyuie?

Viwòa ƒe ɖɔkta awɔ ŋutilãmedɔdada gbã atsɔ akpɔe ɖa be Dravet Dɔléle ƒe dzesiwo le eŋu hã. Woabia viwòa ƒe atikewɔwɔ ŋutinya kple atike ɖesiaɖe si wòzãna hã.

Ðɔktaa ate ŋu abia nya siawo tɔgbe wò:

• Ðe ɖevia ƒe tsitsi sɔ (alo gogo alesi wònɔ tsã) hafi wòdze alɔ̃madɔmadɔ gbãtɔa?
• Ðe alɔ̃dɔdɔ zi eve alo esi wu nenema, kple asrã alo esi mexɔ dzo o, hafi nèxɔ ƒe ɖekaa?
• Ðe alɔ̃madɔmadɔ mawo nye eve alo esi wu nenema, si xɔ wu miniti atɔ̃a?
• Àte ŋu aɖɔ nusi dzɔ esime alɔ̃madɔmadɔa dzɔ (le kpɔɖeŋu me, ɖe ɖevia ƒoea, ɖe nènɔ ekpɔm, ɖe woƒe ŋutilã ƒe akpa ɖeka koe woʋuʋua)?

Tsɔ kpe ɖe eŋu la, ɖɔkta ate ŋu awɔ ʋudodokpɔ alo aɖuɖɔ dodokpɔ atsɔ akpɔe ɖa be SCN1A domenyiŋusẽfianu ƒe tɔtrɔ hã. Woate ŋu awɔ dodokpɔ siwo ado ahɔhɔ̃a kpɔ hã, abe MRI (Magnetic Resonance Imaging) kple EEG (Electroencephalogram) ene. Gake ɣeaɖewoɣi la, woate ŋu ahe dɔléle sia didi ɖe megbe, elabena MRI kple EEG dodokpɔwo me tsonu ate ŋu asɔ le eƒe gɔmedzedze.

Aleke wodaa Dravet Dɔléleae?

Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be woaɖe viwòa ƒe alɔ̃madɔmadɔ kple alɔ̃madɔmadɔa ƒe sesẽ dzi akpɔtɔ . Gake esi ɖevi ɖesiaɖe ƒe alɔ̃madɔmadɔ ƒomevi kple ɣeyiɣi didi si wòxɔna to vovo ta la, menye ɖevi ɖesiaɖee wɔa nu ɖe ​​atikewɔwɔ ŋu le mɔ ɖeka nu o. Eyata wotrɔ asi le atikewɔwɔ ƒe ɖoɖoa ŋu wòsɔ ɖe ame ɖesiaɖe nu. Esia ate ŋu alɔ:

• Atike siwo tsia alɔ̃madɔmadɔ nu: Atike siawo ate ŋu aɖe viwòa ƒe alɔ̃madɔmadɔ ƒe xexlẽme dzi akpɔtɔ. Gake atike aɖewo hã ate ŋu ana alɔ̃dɔdɔ ƒe xexlẽme nadzi ɖe edzi, eyata ɖɔktaa akpɔ esia gbɔ nyuie ŋutɔ eye wòalé ŋku ɖe eŋu enuenu.
• Ketogenic diet: Ðɔkta ate ŋu aɖo aɖaŋu be nàtrɔ viwòa ƒe nuɖuɖu. Esia bia be woaɖu nuɖuɖu si me ami sɔ gbɔ ɖo eye carbohydrates mesɔ gbɔ o.
• Atikewɔwɔwo: Ne tsitsi ƒe megbetsitsiwo li la, hehenana ƒe nudede nyawo me ƒe ɖoɖowo ate ŋu akpe ɖe ame ŋu. Lãmesẽ, dɔwɔɖui, alo nuƒoƒo ƒe atikewɔwɔ hã ate ŋu akpe ɖe ame ŋu woakpɔ kuxiawo gbɔ.

Atike kawoe wonana na Dravet Syndrome?

U.S. Nuɖuɖu Kple Atike Ŋuti Dɔwɔƒe (FDA) da asi ɖe atike siawo dzi be woatsɔ ada alɔ̃madɔmadɔ si do ƒome kple Dravet Syndrome le amesiwo xɔ wu ƒe 2 ŋu:

• Cannabidiol ƒe dɔlékuiwo
• Fenfluramine ƒe atike
• Stiripentol si woyɔna be Stiripentol

Atike sia li le mɔ vovovowo nu, abe atikekuiwo kple tsi ene, eyata ele bɔbɔe na ɖevi suewo kple ame tsitsiwo siaa be woano.

Vevietɔ: Wò ɖɔkta ate ŋu agblɔ na wò be mègazã atike aɖewo siwo tsia alɔ̃madɔmadɔ nu, abe sodium channel blockers abe carbamazepine, oxcarbazepine, lamotrigine, kple phenytoin ene o, elabena woate ŋu ana alɔ̃madɔmadɔa nagagblẽ ɖe edzi.

Wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàzã atike siwo wu ɖeka atsɔ aɖu alɔ̃madɔmadɔ ƒomevi ɖesiaɖe dzi. Dukɔwo Dome Nubabla si Ku Ðe Dravet Dɔlélea Didi Kple Edzikpɔkpɔ Ŋu kafui be woate atike siawo kpɔ le ɖoɖo sia nu:

• Atikewɔwɔ gbãtɔ: Valproate
• Atikewɔwɔ evelia: Fenfluramine, stiripentol, alo clobazam
• Atikewɔwɔmɔnu etɔ̃lia: Cannabidiol
• Atikewɔwɔ ƒe mɔnu enelia: Topiramate, ketogenic nuɖuɖu

Xɔname ƒe atikewo

Esiawo nye atike siwo wonana le nɔnɔme kpatawo me, abe alɔ̃madɔmadɔ atraɖii (`status epilepticus`). Viwò ƒe ɖɔkta awɔ `seizure action plan` na nusi woawɔ ne alɔ̃dɔdɔ dzɔ le aƒeme alo suku. Atike siawo siwo wozãna kpata ate ŋu atɔ te viwòa ƒe alɔ̃madɔmadɔ. Zi geɖe la, esiawo nɔa atike siwo woyɔna be `benzodiazepines` ƒe hatsotso me. Kpɔɖeŋuwo:

• Klonazepam (`Klonazepam`) .
• Diazepam (`Diazepam`) ƒe dɔlékuiwutike .
• Lorazepam (`Lorazepam`) ƒe atike .
• Midazolam ƒe dɔwɔwɔ

Woate ŋu akpɔ atike sia abe atike si wotsɔna ƒua gbe ɖe no me, atike si wotsɔna tsia dɔgboa me, alo abe atikekui siwo ƒoa ƒu ɖe nu me ene.

Nukae nye nyagblɔɖi na ɖevi si ŋu Dravet Dɔlélea?

Wò ɖɔkta koe ate ŋu agblɔ viwòa ƒe nukpɔsusu ŋuti nyatakakawo na wò, elabena etoa vovo tso ame ɖeka gbɔ yi bubu gbɔ. Viwò ate ŋu axɔ alɔ̃madɔmadɔ si nɔa anyi didi, si nɔa eŋu enuenu. Gake ne viwòa le tsitsim la, alɔ̃madɔmadɔ siawo ƒe xexlẽme kple ɣeyiɣi didi si wòxɔna ate ŋu aɖe akpɔtɔ. Togbɔ be atikewo ate ŋu aɖe alɔ̃madɔmadɔ ƒe xexlẽme kple eƒe sesẽ dzi akpɔtɔ hã la, womate ŋu aɖe alɔ̃madɔmadɔ ɖa keŋkeŋ le amesi ŋu Dravet Syndrome le ŋu o.

Àte ŋu akpɔ mɔ be viwòa axɔ ɣeyiɣi didi hafi aɖo tsitsi ƒe nu veviwo gbɔ wu ɖevi bubu siwo nye woƒe ƒemetɔwo. Woate ŋu ahiã kpekpeɖeŋu bubu le suku hã. Ke hã, woate ŋu asrɔ̃ nu blewu ne wole tsitsim.

Viwòa ƒe atikewɔlawo ƒe ƒuƒoƒo ate ŋu aɖo wò ɖe eŋutinunyala vovovowo gbɔ be woakpɔ kuxi siwo doa mo ɖa ne viwòa le tsitsim la gbɔ. Le kpɔɖeŋu me, afɔdɔdala ate ŋu akpe asi ɖe azɔlizɔzɔ ƒe kuxiwo ŋu to afɔkpa tɔxɛwo (orthotics) dede eme me. Alo, ƒumeŋutinunyala ate ŋu akpe asi ɖe azɔlizɔzɔ ƒe kuxiwo alo nɔnɔmewo abe ƒunukpeƒetetedɔ ene ŋu.

Ðe atike blibo aɖe li na esia?

Fifia la, atike aɖeke meli na Dravet Dɔlélea o. Azɔ hã, esi wònye domenyiŋusẽfianu ƒe nɔnɔme ta la, mɔ aɖeke meli si dzi woato axe mɔ ɖe enu o. Ke hã, numekukuwo le edzi yim. Domenyiŋusẽfianu ƒe dɔdamɔnu dodokpɔwo ɖee fia be nu nyuiwo do tso eme le gɔmedzedzea me.

Nukae ɖevi si ŋu Dravet Dɔléle le ƒe agbenɔƒe didi?

Amesiwo ŋu Dravet Dɔléle le la le afɔku me be woaku kaba le SUDEP (ku kpata si womeɖe o le asrãdɔ ta), status epilepticus (alɔ̃madɔmadɔ si yia edzi), alo afɔku siwo dzɔna le alɔ̃madɔmadɔ me. Gake amesiwo ŋu dɔléle sia le ƒe akpa gãtɔ nɔa agbe va ɖoa woƒe tsitsime.

Esi wònye be viwò ƒe nɔnɔme ate ŋu asɔ kple akɔntabubuawo alo masɔ kple wo o ta la, viwòa ƒe ɖɔkta ate ŋu ana nyatakaka siwo de pɛpɛpɛ wu tso nusi nàkpɔ mɔ na ŋu.

Ɣekaɣie wòle be nàkpɔ ɖɔkta?

Ne viwòa ƒe alɔ̃madɔmadɔ zi eve alo esi wu nenema xɔ wu miniti atɔ̃, vevietɔ ne asrã gbɔe wòtso la, hafi wòaxɔ ƒe ɖeka la, gblɔe na wò ɖɔkta. Esia ate ŋu anye Dravet Dɔléle ƒe dzesi.

Ne wokpɔe be Dravet Dɔléle le ŋuwò vɔ la, ahiã be nàyi viwòa ƒe atikewɔlawo ƒe ƒuƒoƒo gbɔ edziedzi. Ne ède dzesii be viwòa ƒe alɔ̃madɔmadɔ le sesẽm ɖe edzi (enɔa anyi enuenu, enɔa anyi didi wu) le atikewɔwɔ gɔmedzedze megbe la, gblɔe na wò ɖɔkta.

Wò ɖɔkta aɖo aɖaŋu na wò le dzesi kple dzesi siwo ŋu wòle be nàlé ŋku ɖo le nɔnɔme kpata aɖe me, kple nusi nàwɔ le nɔnɔme ma me ŋu. Dzesi siwo hiã be woawɔ atike na wo kpata dometɔ aɖewoe nye:

• Alɔ̃madɔmadɔ si xɔa wu miniti atɔ̃ eye wònana gbɔgbɔ sesẽna.
• Alɔ̃madɔmadɔ geɖe dzɔna ɖe wo nɔewo yome, gake ɖevia megatsia dzi le wo me o.
• Alɔ̃madɔmadɔ nana ame dea abi ame ŋu le ŋutilã me.

Mese alesi wòdoa vɔvɔ̃ na wò be nànɔ viwòa kpɔm wòaxɔ alɔ̃madɔmadɔ gɔme. Togbɔ be etena ɖe ame dzi hã la, mele bɔbɔe be míanya be nu ma tɔgbe agadzɔ gbeɖeka o. Esiae nye nu ŋutɔŋutɔ si le agbenɔnɔ kple Dravet Dɔlélea me.

Gake viwòa ƒe atikewɔlawo ƒe ƒuƒoƒo awɔ dɔ kpli wò be nàse nusi nàkpɔ mɔ na le alɔ̃madɔmadɔ me gɔme. Woafia alesi nàwɔ `seizure action plan` hã wò. Ne ènya amesiwo nàte ŋu aƒo ka na kple nunɔamesi siwo nàzã le nɔnɔme kpata aɖe me la, ate ŋu ana wò susu nadze akɔ anyi vie.

Atikewɔwɔ ate ŋu aɖe alɔ̃madɔmadɔ ƒe dzidziɖedzi kple eƒe sesẽ dzi akpɔtɔ. Esi viwòa ahiã be woakpɔ egbɔ le eƒe agbemeŋkekewo katã me ta la, adze si eƒe ɖɔktawo nyuie. Ne nya aɖe le asiwò le mɔa dzi la, mègahe ɖe megbe le nyabiabia viwòa ƒe atikewɔlawo ƒe ƒuƒoƒoa me o.

Mlɔeba la, ɖo ŋku (Take-Home Message) dzi .

Dravet Syndrome nye asrãdɔ si mebɔ o eye wòsesẽ eye wòdzea ɖevi suewo dzi. Gɔmesese le eŋu be nàse vɔvɔ̃ kple dzimaɖitsitsi gã aɖe ne èse eŋu nya.

Nu vevitɔe nye be nàde dzesi dzesiawo kaba eye nàdi atikewɔlawo ƒe aɖaŋuɖoɖo kple atikewɔmɔnu nyuitɔ.

• Ne viwò suea le alɔ̃madɔmadɔ xɔm ɣeyiɣi didi tsɔ kpe ɖe asrã ŋu la, mègahe nuƒoƒo tso eŋu na ɖɔkta ɖe megbe o.
• Agbenɔnɔ kple nɔnɔme sia nye kuxi, gake menye wò ɖeka koe o. Àte ŋu akpɔ kpekpeɖeŋu geɖe tso ɖɔktawo, atikewɔlawo, kple dzila bubu siwo to nuteƒekpɔkpɔ mawo tɔgbe me gbɔ.
• Dɔdamɔnu kple numekukuwo yi edzi le nyonyom ɖe edzi, eyata mègana mɔkpɔkpɔ o.

Neva eme be ŋusẽ nasu asiwò nàtsɔ akpɔ viwòa dzi nyuie wu!

` Dravet Syndrome, asrãdɔ, alɔ̃madɔmadɔ, domenyiŋusẽfianu ƒe tɔtrɔ, ɖeviwo ƒe dɔlélewo, ahɔhɔ̃medɔlélewo, SCN1A