Yu smɔl pikin gɛt dis bad bad sik we dɛn kɔl epilepsy? Lɛ wi lan bɔt Dravet Syndrome!

Aw yu go fred if yu smɔl pikin, ɔ pikin we nɔ rich wan ia yet, gɛt siriɔs sik we dɛn kɔl fiva wantɛm wantɛm ɛn i tek pas fayv minit? E kin bi di fɔs sayn fɔ wan sik wae nɔr kin bɔrku ɛn kin siriɔs wae dɛn kɔl Dravet Syndrome. Insay dis kɔndishɔn, smɔl pikin dɛn kin gɛt difrɛn kayn sik dɛn we dɛn kin gɛt. Nɔr to dat nɔmɔ, dɛn kin gɛt bɔrku ɔda sayn dɛm bak, lɛk wae dɛn nɔr kin ebul fɔ tɔk, dɛn nɔr kin ebul fɔ waka, ɛn dɛn kin delay fɔ lan. Nɔ wɔri, lɛ wi tɔk bɔt dis ditayli.

Wetin na di sayn dɛm fɔ Dravet Syndrome?

Di fɔs sayn fɔ pikin we gɛt Dravet Syndrome na we i de sik . Dis kin apin bifo di pikin ol wan ia. Dis fɔs sik kin tan lɛk dis:

• I kin tek pas fayv minit .
• Bɔrku tɛm e kin apun wit fiva, ɔda sik, ɔr di envayrɔmɛnt wae de wam pasmak.
• di mכsul dεm we dεn nכ kכntrol (wi kכl dεm kכnvכlshכn) kin apin.
• I kin afɛkt wan say nɔmɔ na di bɔdi ɔ ɔl tu di say dɛn.

Afta di pikin dɔn ol wan ia, ɔda kayn sik kin apin. Dɛn tin ya kin apin bak we yu nɔ gɛt fiva. Dis min se di sik kin apin we di tɛmpracha nɔ go ɔp. Dɛn difrɛn kayn sik ya na:

• Absence seizures: Yu nɔ go no natin wantɛm wantɛm, lɛk se yu tinap wansay. Bɔt dis na fɔ rili shɔt tɛm.
• Atonic seizures: I nɔ kin ebul fɔ kɔntrol di mɔsul dɛn wantɛm wantɛm, ɛn dis kin mek i tan lɛk se di bɔdi de go swɛt.
• Hemiclonic seizures: di mכsul dεm de twitch na wan say nכmכ na di bכdi.
• Focal seizures: I kin bi se yu nɔ kin no natin fɔ shɔt tɛm, yu nɔ kin ebul fɔ kɔntrol yu mɔsul dɛn, ɛn yu kin fil lɛk se yu nɔ kin fil fayn.
• Myoclonic seizures: Smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl.
• Tonic-clonic seizures: Dis na di kayn sik wae wi kin si pasmak. Di bɔdi de jɔk we i nɔ ebul fɔ kɔntrol am.

Apat frɔm dɛn sik ya we kin mek pɔsin sik, pikin dɛn we gɛt Dravet Syndrome kin gɛt ɔda sayn dɛn. Dɛn tin ya na:

• Divɛlɔpmɛnt dilɛys: Dɛn kin si dilɛys pan langwej divɛlɔpmɛnt, mɔ pan di divɛlɔpmɛnt fɔ tɔk.
• Prɔblɛm fɔ biev: Sɔntɛnde, i kin biev bad bad wan.
• Nyurodivεlכpmεnt dizכrd: fכ egzampl, kכndishכn dεm lεk `ADHD` (Attention Deficit Hyperactivity Disorder).
• I nɔ izi fɔ balans ɛn fɔ wok togɛda: I kin at fɔ mek yu balans fayn we yu de waka.
• I nɔ izi fɔ muv: Yu kin notis se yu de shek shek ɔ yu nɔ de waka fayn.
• di mכsul dεm we wik (hypotonia): di mכsul dεm de dכn.
• Prɔblɛm fɔ slip: Tin dɛn lɛk fɔ nɔ ebul fɔ slip, fɔ wek ɔltɛm.
• Prɔblɛm fɔ gro ɛn it: Tin dɛn lɛk we yu nɔ gɛt bɛtɛ wet, we yu nɔ want fɔ it.
• Dysautonomia: Dis min se i nɔ kin izi fɔ kɔntrol tin dɛn lɛk bɔdi tɛmpracha, at rit, ɛn blɔd prɛshɔn.

Wetin kin mek pɔsin gɛt Dravet Syndrome?

di men kכz fכ Dravet Syndrome na bכku tεm wan jεnεtik vεryכnt insay wan jin we dεn kכl `SCN1A` . dis `SCN1A` jin de tεl wi sεl dεm fכ mek sכdiכm chεnal dεm we de kכri sכdiכm ayכn dεm (positiv chaj sכdiכm atכm dεm). Dɛn chanɛl ya de ɛp wi bren sɛl dɛn fɔ mek ɛn sɛn ilɛktrik signal.

fכ sכmtεm, tink bכt dis `SCN1A` jin as `kuk rεsipi` fכ mek sכdiכm chεnal dεm we de akt lεk `gεt` to wi bren sεl dεm. if sכm mistek de na dis `rεsipi`, dat na, jεnεtik mכtεshכn, dεn `gεt` dεm nכ de fכm fayn fayn wan. afta dat di transmishכn fכ mεsej bitwin di bren sεl dεm, dat na, `nyurotransmishכn`, de disrupt. Dis na wae mek sɔm kayn sik lɛk wae pɔrsin kin gɛt sik kin kam.

Yu tink se dis na tin we pɔsin kin gɛt?

Yɛs, Dravet Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Bɔt bɔku tɛm, i kin apin wan wan tɛm. Dat min se, i kin apin wantɛm wantɛm, we nɔ gɛt ɛni famili histri bɔt dis sik bifo. Bɔt sɔm tɛm dɛn dɔn de we dis sik dɔn afɛkt sɔm pipul dɛn na di famili fɔ sɔm jɛnɛreshɔn dɛn.

insay rare kes dεm fכ hεridita Dravet sεndrכm, di mכtεshכn kin de insay כnli sכm sεl dεm fכ wan mama εn papa (dεn kכl dis `mosaicism`). כ, i kin pas dכn frכm jεnereshכn to jεnereshכn insay wan `autosomal dominant` patεn. Dis min se pikin kin gɛt di sik ivin if na wan mama ɔ papa nɔmɔ gɛt di muteshon.

Bɔt wan tin fɔ mɛmba na dat nɔto ɔlman we gɛt di `SCN1A` jin muteshon go gɛt di simptom dɛm fɔ Dravet Syndrome. Sɔm pipul kin gɛt dis muteshon bɔt nɔr kin gɛt ɛni sayn atɔl. כlso, sכm pipul dεm kin gεt di simptom dεm fכ Dravet Syndrome bכt dεn nכ gεt di `SCN1A` jin mכtεshכn.

Ɛni spɛshal risk de fɔ dis?

If wan pan yu mama ɛn papa ɔ ɔda pɔsin na yu famili gɛt ɛpilepsi ɔr muteshon na di `SCN1A` jin, yu kin de pan denja fɔ gɛt dis sik.

Wetin na de prɔblɛm wae kin kam wit Dravet Syndrome?

De siriɔs prɔblɛm wae kin kam wit dis sik kin mek pɔrsin in layf de pan denja . Di men wan dɛn na:

• Injury we pɔsin kin gɛt we i de sik.
• Status epilepticus: Dis na kכndyushכn wae de kכntinyu fכ sכk. Dis nid fɔ go to dɔktɔ wantɛm wantɛm.
• Day we pɔsin kin day wantɛm wantɛm we pɔsin gɛt Epilepsy (SUDEP).

Di dɔktɔ we de trit yu pikin go ɛksplen to yu wetin na dɛn denja sayn ya ɛn i go mek plan bak fɔ wetin fɔ du we ɛnitin apin.

Aw yu kin no di kɔrɛkt tin bɔt Dravet Syndrome?

Yu pikin in dɔktɔ go fɔs du in bɔdi ɛgzam fɔ chɛk fɔ si if i gɛt Dravet Syndrome. Dɛn go aks bak bɔt yu pikin in mɛdikal histri ɛn ɛni mɛrɛsin we dɛn de tek.

Di dɔktɔ kin aks yu kwɛstyɔn dɛn lɛk dɛn wan ya:

• di pikin in divεlכpmεnt bin nכmal (כ klos to nכmal) bifo di fכs sik?
• Yu dɔn gɛt tu ɔ mɔ sik dɛn we de mek yu sik, wit fiva ɔ yu nɔ gɛt fiva, bifo yu ol wan ia?
• Yu tink se dɛn sik dɛn de we bin de mek pɔsin sik tu ɔ mɔ, we bin tek pas fayv minit?
• Yu kin diskraib wetin apin we di sik bin apin (fɔ ɛgzampul, di pikin bin de thrash, yu bin de wach, dɛn bin jɔs de muv wan say na dɛn bɔdi)?

Apat frɔm dat, di dɔktɔ kin du blɔd tɛst ɔ saliva tɛst fɔ chɛk fɔ si if di SCN1A jin chenj. Dɛn kin du tɛst dɛn bak we de chɛk di bren, lɛk MRI (Magnetic Resonance Imaging) ɛn EEG (Electroencephalogram). Bɔt sɔmtɛm dis diagnosis kin delay, bikɔs di rizɔlt fɔ MRI ɛn EEG tɛst kin bi nɔmal insay di fɔs stej.

Aw dɛn kin trit Dravet Syndrome?

Di men gol fɔ tritmɛnt na fɔ ridyus di nɔmba fɔ di sik dɛn we yu pikin kin gɛt ɛn di kayn sik we i kin gɛt . Bɔt bikɔs di kayn sik we ɛni pikin kin gɛt ɛn aw kin tek am kin difrɛn, nɔto ɔl pikin kin ansa di tritmɛnt di sem we. So, dɛn kin mek di tritmɛnt plan fɔ ɛnibɔdi. Dis kin inklud:

• Di mɛrɛsin dɛn we de mek yu pikin nɔ gɛt sik: Dɛn mɛrɛsin ya kin mek yu pikin nɔ gɛt bɔku sik. Bɔt sɔm mɛrɛsin dɛn kin mek bak di nɔmba fɔ di sik dɛn we kin mek pɔsin sik, so di dɔktɔ go tek tɛm trit dis ɛn i go de wach am ɔltɛm.
• Ketogenic diet: Di dɔktɔ kin se yu fɔ chenj di it we yu pikin de it. Dis kin min fɔ it tin dɛn we gɛt bɔku fat ɛn we nɔ gɛt bɔku kabɔhaydrɛt.
• Di tritmɛnt dɛm: If divɛlɔpmɛnt delay, ɛdyukeshɔn intavɛnshɔn program kin ɛp. Fɔ trit yu bɔdi, wok, ɔ tɔk kin ɛp bak fɔ sɔlv di prɔblɛm dɛn.

Us mɛrɛsin dɛn kin gi fɔ Dravet Syndrome?

Di U.S. Food and Drug Administration (FDA) dɔn gri fɔ yuz dɛn mɛrɛsin ya fɔ trit di sik we dɛn kɔl Dravet Syndrome pan pipul dɛn we dɔn pas 2 ia:

• Kannabidiol we dɛn kɔl
• Fɛnfluramin we dɛn kɔl
• Stiripentol we dɛn kɔl Stiripentol

Dis mɛrɛsin de difrɛn we, lɛk pils ɛn wata, so i izi fɔ yɔŋ pikin ɛn big pipul fɔ tek am.

Impɔtant: Yu dɔktɔ kin tɛl yu nɔ fɔ yuz sɔm mɛrɛsin dɛn we de mek yu sik, lɛk sɔdiɔm chanɛl blɔk lɛk kabamazɛpin, ɔkskabazepin, lamotrijin, ɛn fɛnitɔyn, bikɔs dɛn kin mek yu sik wɔs.

Yu dɔktɔ kin tɛl yu fɔ tek pas wan mɛrɛsin fɔ kɔntrol ɛni kayn sik we yu kin gɛt. Di Intanɛshɔnal Kɔnsɛns fɔ Dayagnɔz ɛn Manejmɛnt fɔ Dravet Sindrom se yu fɔ tray dɛn mɛrɛsin ya insay dis ɔda:

• Fɔs layn tritmɛnt: Valproate
• Sɛkɔn layn tritmɛnt: Fɛnfluramin, stiripentol, ɔ klobazam
• Tɔd-layn tritmɛnt: Cannabidiol
• Fɔs layn tritmɛnt: Topiramate, ketogenic it

Di mɛrɛsin dɛn we dɛn kin yuz fɔ sev pipul dɛn

dis na mεdisin dεm we dεn kin gi we i gεt imejensi, lεk we yu de kכntinyu fכ sik (`status epilepticus`). Yu pikin in dɔktɔ go mek wan `seizure action plan` fɔ wetin fɔ du if seizure apin na os ɔ na skul. Dɛn imejensi mɛrɛsin ya kin stɔp yu pikin fɔ gɛt sik. dis dεm kin de insay di klas כf mεdikal dεm we dεn kכl `benzodiazepines`. Ɛgzampul dɛn:

• Klɔnazepam (`Klɔnazepam`) .
• Diazepam (`Dayazepam`) .
• Lorazepam (`Lɔrazepam`) .
• Midazolam we dɛn kɔl midazolam

Dis mɛrɛsin de as sprɛy na yu nos, rɛktal jel, ɔ as tablɛt we de sɔlv na di mɔt.

Wetin na di prɔgnosis fɔ pikin we gɛt Dravet Syndrome?

Na yu dɔktɔ nɔmɔ go ebul fɔ gi yu di rayt tin bɔt aw yu pikin de si tin, bikɔs i kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Yu pikin kin gɛt sik we de mek i sik fɔ lɔng tɛm, ɛn i kin gɛt sik ɔltɛm. Bɔt as yu pikin de ol, di nɔmba ɛn di tɛm we dɛn kin gɛt dɛn sik ya kin go dɔŋ. Pan ɔl we mɛrɛsin kin ridyus di nɔmba ɛn di kayn we aw pɔsin kin gɛt sik, dɛn nɔ kin ebul fɔ pul di sik we pɔsin we gɛt Dravet Syndrome gɛt kpatakpata .

Yu kin op se yu pikin go tek lɔng tɛm fɔ rich di divɛlɔpmɛnt maylston dɛn pas ɔda pikin dɛn we dɛn ej. Dɛn kin nid ɛkstra ɛp bak na skul. Bɔt, dɛn kin lan sloslo as dɛn de ol.

Yu pikin in mɛdikal tim kin sɛn yu to difrɛn spɛshal pipul dɛn fɔ trit prɔblɛm dɛn we kin apin we yu pikin de gro. Fɔ ɛgzampul, dɔktɔ we de mɛn yu fut kin ɛp wit prɔblɛm dɛn we yu de waka bay we i fit spɛshal sus (ɔtotiks). Ɔ, ɔtpidik ɔspitul kin ɛp wit prɔblɛm wit aw yu de waka ɔr tin lɛk skɔliosis.

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Naw, no mɛrɛsin nɔ de fɔ Dravet Syndrome. Dɔn bak, bikɔs na tin we pɔsin kin gɛt frɔm in bɔdi, no we nɔ de fɔ mek i nɔ apin. Bɔt, dɛn de kɔntinyu fɔ du risach. Klinik trial dɛm fɔ jin tɛrapi dɔn sho prɔmis fɔs rizɔlt.

Wetin na di layf we pikin we gɛt Dravet Syndrome kin liv?

Pipul wae gɛt Dravet Syndrome kin de pan denja fɔ day kwik kwik wan bikɔs ɔf SUDEP (day wan wae nɔr kin ɛksplen bikɔs ɔf epilepsy), status epilepticus (we kin kɔntinyu fɔ gɛt sik), ɔr aksidɛnt wae kin apin wae pɔrsin kin gɛt sik. Bɔt, bɔrku pipul dɛm wae gɛt dis sik kin liv te dɛn big.

Bikɔs yu pikin in sik kin mach ɔ nɔ kin mach wit di statystik, yu pikin in dɔktɔ kin gi yu di kɔrɛkt infɔmeshɔn bɔt wetin fɔ ɛkspɛkt.

Ustɛm yu fɔ go to dɔktɔ?

If yu pikin gɛt tu ɔ mɔ sik dɛn we kin tek pas fayv minit, mɔ if i gɛt fiva, bifo i ol wan ia, tɛl yu dɔktɔ. Dis kin bi sayn fɔ Dravet Syndrome.

Afta dɛn dɔn no se yu gɛt Dravet Syndrome, yu go nid fɔ go to yu pikin in mɛdikal tim ɔltɛm. If yu notis se yu pikin in sik de wɔs (mɔr ɔltɛm, i de te) afta yu dɔn bigin fɔ trit yu, tɛl yu dɔktɔ.

Yu dɔktɔ go advays yu bɔt di sayn ɛn sayn dɛm we yu fɔ luk fɔ we yu gɛt ɛnitin fɔ du wit am, ɛn wetin fɔ du if yu gɛt da kayn sik de. Di sayn dɛm wae nid fɔ gɛt tritmɛnt kwik kwik wan na:

• Wan sik wae kin teik pas fayv minit ɛn kin mek i nɔr kin izi fɔ blo.
• Bɔku sik dɛn kin apin wan afta di ɔda, bɔt di pikin nɔ kin no bak we dɛn de du dɛn.
• Wan sik we dɛn kɔl seizure kin mek pɔsin gɛt injury na in bɔdi.

a andastan aw i kin mek yu fred foh wach yu pikin geht seizure. Pan ɔl we i kin mek pɔsin fil pen, i nɔ kin izi fɔ no se sɔntin lɛk dat go apin bak sɔmde. Dis na di rial tin fɔ liv wit Dravet Syndrome.

Bɔt di mɛdikal tim fɔ yu pikin go wok wit yu fɔ ɔndastand wetin fɔ ɛkspɛkt we i gɛt sik. Dɛn go tich yu bak aw fɔ mek wan `seizure action plan`. We yu no udat fɔ kɔntakt ɛn us tin dɛn fɔ yuz we yu gɛt ɛnitin fɔ du wit am, dat kin mek yu gɛt sɔm kolat na yu maynd.

Tritmɛnt kin ridyus di frɛkuɛns ɛn di kayn we aw pɔsin kin sik. Bikɔs yu pikin go nid fɔ gɛt mɛrɛsin fɔ ɔl in layf, i go kam fɔ no in dɔktɔ dɛn gud gud wan. If yu gɛt ɛni kwɛstyɔn along di rod, nɔ shek fɔ aks yu pikin in mɛdikal tim.

Fɔ dɔn, mɛmba (Take-Home Message) .

Dravet Syndrome na wan sik wae nɔr kin bɔrku ɛn wae kin kɔmpleks wae kin afɛkt yɔŋ pikin dɛm. E fayn fɔ ɔndastand fɔ fil bɔrku frayd ɛn wɔri wae yu yɛri bɔt dis.

Di tin we impɔtant pas ɔl na fɔ no di sayn dɛm kwik kwik wan ɛn go to di rayt dɔktɔ ɛn tritmɛnt.

• If yu smɔl pikin de sik fɔ lɔng tɛm wit fiva, nɔ delay fɔ tɔk to dɔktɔ bɔt am.
• Fɔ liv wit dis sik na prɔblɛm, bɔt nɔto yu wangren de. Yu kin gɛt bɔku sɔpɔt frɔm dɔktɔ, tritmɛnt pipul, ɛn ɔda mama ɛn papa dɛn we dɔn gɛt dis kayn ɛkspiriɛns.
• Di tritmɛnt ɛn risach de kɔntinyu fɔ impɔtant, so nɔ giv ɔp.

Mek yu gɛt di trɛnk fɔ kia fɔ yu pikin di bɛst we!

` Dravet Syndrome, epilepsy, seizure, jεnεtik mכtεshכn, pikin dεm, nyurolכjik sik dεm, SCN1A