Mek wi lan bɔt Lafora Disease. Yu pikin gɛt dɛn sik ya?

I tan lɛk se yu pikin de fid ɔltɛm? Ɔ i gɛt prɔblɛm fɔ pe atɛnshɔn pan di wok we i de du na skul? Sɔntɛm i dɔn notis se i dɔn chenj di we aw i de tɔk ɔ di we aw i de biev? Dis na tin wae wi nɔr kin pe atɛnshɔn to sɔmtɛm, bɔt dɛn kin bi sayn fɔ wan sik wae nɔr kin bɔrku wae dɛn kɔl Lafora Disease. So lɛ wi tɔk bɔt dis smɔl tide, nɔto so?

Wetin na Lafora Sik?

Fɔ tɔk am simpul wan, Lafora sik na wan kayn epilepsy. I kin bi se di pikin kin fit (seizure) ɔltɛm ɛn di pikin in ebul fɔ tink, mɛmba, ɛn ɔndastand tin dɛn (cognitive function) kin go dɔŋ smɔl smɔl. Yu kin yɛri bak dɔktɔ kɔl am ‘Lafora progressive myoclonus epilepsy’. Dat na di ful mɛdikal nem fɔ am.

Dɛn sayn ya kin bigin we dɛn smɔl, lɛk et ia, ɔ we dɛn big. Di sɔri tin na dat, dɛn sik ya kin wɔs as tɛm de go. Ivin wit tritmɛnt, Lafora sik kin mek yu layf de pan denja insay 10 ia. Bɔt bikɔs dɛn dɔn du nyu risach ɛn di tritmɛnt dɛn we dɛn dɔn mek, sɔm pikin dɛn de liv lɔng pas aw dɛn bin de tink. So nɔ giv ɔp fɔ gɛt op.

Dis Lafora Disease kin afɛkt bɔrku pipul dɛm?

Yɛs, dis na sik we nɔ kin apin so ɔltɛm . Stɔdi dɛn we dɛn dɔn du ɔlsay na di wɔl sho se na lɛk 4 pan ɛvri milyɔn pipul dɛn kin gɛt dis sik ɛvri ia. Bɔt dis nɔmba kin pas dat. Dis na bikɔs sɔm pipul dɛn nɔ kin no di sik fayn fayn wan ɔ dɛn nɔ kin ripɔt di sik, so i kin tan lɛk se dɛn nɔmba ya smɔl.

Wetin na di sayn dɛm fɔ Lafora Disease?

Pikin we gɛt Lafora sik kin gɛt wan ɔ mɔ pan dɛn sayn ya:

• Seizure: Dis na di men sayn.
• I nɔ kin ebul fɔ ɔndastand di tin dɛn we i de lan: Di pikin nɔ kin ebul fɔ ɔndastand di lɛsin dɛn ɛn i kin at fɔ lan nyu tin dɛn.
• I nɔ izi fɔ tɔk: I kin apin we pɔsin nɔ de tɔk fayn ɛn i kin mek i slo fɔ tɔk.
• Fɔ lɔs balans, lɛk fɔ shek shek we yu de waka (balans ɛn kɔdineshɔn chalenj): Spɛshal wan, i kin at fɔ waka na stret layn, lɛk fɔ mek mistek we yu de ol tin.
• di mכsul dεm stiff (spasticity): I kin at fכ bεnd כ stret di limb dεm, εn di bכdi kin fil stiff.
• Di chenj we yu de biev: Yu kin trangayes pas aw yu bin de biev, ɔ yu kin jɔs vɛks.
• Mud swing: Sɔmtɛm, sɔm kayn tin wae tan lɛk pwɛl hat kin apun, dat min se yu kin fil sɔri ɔltɛm, nɔr kin intres pan ɛnitin. Ɔ yu kin bigin fɔ bi pɔsin we nɔ bisin bɔt ɔda pipul dɛn.
• Wae yu nɔr de mɛmba fayn ɛn tin dɛm lɛk dis maynia sik: Yu kin fɔgɛt ivin de smɔl smɔl tin dɛm, ɛn as tɛm de go, yu nɔr kin ivin mɛmba udat yu bi ɔr usai yu de.

Di kayn sik dɛm wae dɛn kin si pan Lafora sik

Yu pikin kin gɛt difrɛn kayn fit wit Lafora syndrome. Lɛ wi tek wan luk pan wetin dɛn bi:

• Myoclonic seizures: Dis na we di mɔsul dɛn kin twitch kwik kwik wan, wantɛm wantɛm, we yu nɔ want. Dɛn kin shɔt, lɛk we kɔrɛnt de jolt. Dis kayn sik wae de kam pan pɔrsin kin si am mɔr pan Lafora sik.
• Occipital seizures: Dis kin mek yu nɔ de si fayn wantɛm wantɛm, ɔ yu kin si tin dɛn we yu de si.
• Tonic-clonic seizures: Dis na wetin bɔrku pipul kin kɔl "seizure." Di mɔsul dɛn na di bɔdi kin stif ɛn jɔk.
• Absence seizures: Insay dis, di pikin kin stɔp fɔ du sɔntin wantɛm wantɛm ɛn jɔs de luk na di spes. Dɛn kin gɛt kɔnshɛns bak insay sɔm sɛkɔn dɛn.
• Kɔmpleks pat pan di sik dɛn we kin mek pɔsin sik: Dis kin min bak fɔ luk blank, fɔ shek di an ɛn fut dɛn we nɔ gɛt ɛni aim, ɔ fɔ du di sem tin bak ɛn bak.
• Atonic seizures: Dis na we di mɔsul dɛm na di bɔdi kin lɔs trɛnk wantɛm wantɛm, we kin mek di pikin fɔdɔm na grɔn.

Dɛn fit ya kin tranga pasmak as de sik de go bifo ɛn kin kam ɔltɛm. Pan ɔl we dɔktɔ dɛn kin ebul fɔ kɔntrol dɛn we dɛn bigin, i kin at fɔ du as tɛm de go.

Aw di Lafora simptom dεm de inkrεs sכmtεm

De sayn dɛm fɔ Lafora sik kin wɔs as tɛm de go. Dis kin las frɔm sɔm mɔnt to sɔm ia. Fɔs, dɛn sayn ya kin bigin as smɔl smɔl tin dɛn we kin mek i vɛks, bɔt smɔl smɔl i nɔ kin ebul fɔ du di wok dɛn we di pikin kin du ɛvride ɛn fɔ tɔk to ɔda pipul dɛn.

Imajin, lɛk siks ia so afta dɛn dɔn no se dɛn gɛt Lafora sik, lɛk af pan di wan dɛn we sik nɔ kin ebul fɔ kɔntrol dɛn muvmɛnt . Sɔntɛm yu pikin nɔ go ebul fɔ waka, tɔk, ɔ sidɔm fɔ insɛf. Sɔntɛnde, dɛn kin nid fɔ kia fɔ dɛn 24 awa so dat dɛn go fil fayn. Dis kin sɔri fɔ yɛri, bɔt i impɔtant fɔ no dɛn tin ya.

Ustɛm di sayn dɛm fɔ Lafora kin bigin?

Di sayn dɛm fɔ Lafora kin bigin bitwin 8 ɛn 19 ia.I kin mɔs bi bitwin 14 ɛn 16. Bɔt sɔmtɛm dis sik kin afɛkt pikin dɛm we yɔŋ lɛk 5 ia.

Wetin na di kɔz fɔ dis Lafora sik?

Di men tin we kin mek pɔsin gɛt Lafora sik na we i de chenj in jɛnɛtiks.. fכ bi prεsis, di sik de kכz bay wan mכtεshכn na di jin dεm `EPM2A` כ `EPM2B (NHLRC1)`. dis kin apin lεk dis: We dεn bכn pikin, di pikin fכ gεt wan kכpi fכ dis mכtayt jin frכm di mama εn di papa. insay mεdikal tεm dεm, dεn kכl dis `autosomal recessive` inheritance .

dis jin dεm we dεn kכl `EPM2A` כ `EPM2B`, na dεn de rispansabl fכ proכses wan tin we dεn kכl glycogen we de stכr εnεji na wi bכdi fayn fayn wan. Naw, we dɛn jin ya chenj, di instrɔkshɔn dɛn fɔ prosɛs di glycogen fayn fayn wan kin kɔnfyus. wetin kin apin da tεm de na dat dεn nכ de yuz dis glycogen fayn fayn wan, εn sכm sכm sכm sכm sכm dεm (dεn kכl dεm Lafora bכdi) de fכm. dis Lafora bכdi dεm de dכn insay di sεl dεm na wi nεv sεstem, mכsul dεm, insay כgan dεm, εn tisu dεm. afta dat wi nεv sεstem εn כda כgan dεm usay dεn Lafora bכdi dεm ya de dכn nכ kin ebul fכ wok fayn fayn wan. Na dat na di rizin fɔ di sayn dɛm fɔ Lafora sik. Yu ɔndastand?

Udat de pan big risk fɔ gɛt Lafora sik?

Ɛnibɔdi kin gɛt Lafora sik, bɔt i kin mɔna pipul dɛn we de na kɔntri dɛn we de arawnd di Mɛditarenian rijɔn (lɛk Spen, Frans, ɛn Itali), kɔntri dɛn na Nɔt Afrika, India, ɛn Pakistan .

Wetin na di prɔblɛm dɛn we kin kam wit Lafora sik?

Lafora sik kin mek yu gɛt wan sik we dɛn kɔl ‘status epilepticus’, we na wan sik we de kɔntinyu fɔ sik fɔ pas 15 minit wan tɛm, ɔ we di sik dɔn dɔn ɛn afta dat yu kin gɛt ɔda sik bifo yu gɛt kɔnshɛns bak. Dis na mɛdikal imejensi we kin mek pɔsin in layf de pan denja.

We Lafora sik kin kam tranga, di Lafora bɔdi dɛn we a bin dɔn tɔk bɔt kin gɛda na di bɔdi, we kin mek di pikin in bɔdi pat dɛn nɔ de wok fayn, sɔm tɛm dɛn kin stɔp dɛn ɔltogɛda. Dis na di rizin wae mek dis sik de day kwik kwik wan.

Aw dɛn kin no se pɔsin gɛt Lafora sik?

Bɔku tɛm, we pikin bigin fɔ gɛt sik, in mama ɛn papa ɔ di wan dɛn we de kia fɔ am go go to dɔktɔ. Di dɔktɔ go du in bɔdi ɛgzam, in nyurolɔjik ɛgzam, ɛn aks bɔt yu pikin in sik ɛn in mɛdikal istri.

Dɔn, dɛn go ɔda fɔ du bɔku tɛst fɔ no di rial tin we kin mek dɛn gɛt dɛn sik ya. Dɛn tɛst ya kin bi:

• EEG (Electroencephalogram - EEG): dis de mכsu di ilektrikal aktiviti na di bren.
• MRI (Magnetic Resonance Imaging - MRI): Dis de tek wan ditayl pikchɔ fɔ di bren.
• Skin biopsy: Sɔntɛnde dɛn kin tek smɔl pat pan di skin ɛn chɛk fɔ si if Lafora bɔdi de.
• Jɛnɛtik tɛst:Dis go kɔnfɔm if ɛni chenj de na di jin dɛn we a bin dɔn tɔk bɔt.

Dis we ya, yu go nid fɔ go to bɔku dɔktɔ dɛn ɛn du bɔku tɛst dɛn fɔ no di sik we yu pikin gɛt kɔrɛkt wan. Bɔt mɛmba se dɛn mek ɔl di tɛst dɛn fɔ pul ɔda sik dɛn we gɛt di sem kayn sik ɛn ɛp yu fɔ fɛn di rayt tritmɛnt fɔ yu pikin.

Aw dɛn kin trit Lafora sik?

Infakt, no mɛrɛsin nɔ de yet fɔ Lafora sik . Di tritmɛnt dɛm wae de naw na fɔ kɔntrol di sik dɛm. Dɛn tin ya kin bi:

• Antiseizure mɛrɛsin fɔ kɔntrol aw di fit bigin.
• Ɛspɛshali fɔ mayokal sik, dɛn kin gi mɛrɛsin lɛk valproic acid, perampanel, ɔ benzodiazepines .
• Fyzikal tritmɛnt ɔ ɔkupeshɔn tɛrapi kin ɛp fɔ mek di mɔsul dɛn kɔntinyu fɔ gɛt trɛnk fɔ lɔng tɛm.

As di sayn dɛm de wɔs, i kin at fɔ kɔntrol dɛn. Bɔt di mɛdikal tim we de trit yu pikin go du ɔl wetin dɛn ebul fɔ mek yu pikin fil fayn as dɛn ebul.

Wetin na de lukin-grɔn fɔ Lafora sik?

Fɔ tɔk tru, di lukin-grɔn fɔ Lafora sik nɔr rili fayn. Dat min se di pikin kin day kwik kwik wan pan dis sik. As wi bin dɔn tɔk, no mɛrɛsin nɔ de yet fɔ dis.

We dɛn dɔn no se yu pikin gɛt Lafora sindrom, i go fayn fɔ mek yu go to pɔsin we de advays yu bɔt yu jɛnɛtiks . I kin tɛl yu mɔ bɔt de sik, aw i kin afɛkt yu pikin, ɛn gi yu advays bɔt aw fɔ kia fɔ yu pikin ɛn usay fɔ fɛn sɔpɔt we go fayn fɔ yu famili.

Bɔku famili dɛn kin si bak se fɔ advays dɛn bɔt mental wɛlbɔdi biznɛs kin rili ɛp dɛn. Na bikɔs Lafora sik kin rili bad kwik kwik wan. We yu si yu pikin de sɔfa wit sɔm sayn dɛn, ɛn si tin dɛn we bin de wok fayn de dɔn smɔl smɔl, i kin rili at fɔ mek mama ɛn papa dɛn bia. Dis kin gɛt big impak pan yu maynd wɛl bɔdi. So, i rili impɔtant fɔ kia fɔ yusɛf ɛn fɔ kia fɔ yu famili insay dis tranga tɛm.

Wetin na de layf fɔ pɔrsin wae gɛt Lafora sik?

Di avrej layf we pikin we gɛt Lafora sik kin liv na lɛk 10 ia afta di sik bigin. Bɔku pikin dɛn kin liv te dɛn yɔŋ.

Yu tink se dɛn kin ebul fɔ avɔyd Lafora sik?

Nɔr way nɔr de fɔ mek dɛn nɔr gɛt Lafora sik. Bɔt if yu de plan fɔ mek famili, yu kin tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks fɔ no if yu gɛt di prɔblɛm we yu gɛt fɔ bɔn pikin we gɛt di sik we yu gɛt frɔm yu mama ɛn papa.

Ustɛm a fɔ kɛr mi pikin go to dɔktɔ?

Fɔ yu pikinIf yu gɛt sik fɔ di fɔs tɛm na yu layf, kɔl di imejensi savis wantɛm wantɛm. I rili impɔtant.

Dɔn bak, tɛl di dɔktɔ if yu pikin gɛt ɛni wan pan dɛn tin ya:

• If ɛni chenj de pan di we aw pɔsin de biev ɔ di we aw pɔsin de fil .
• If yu gɛt prɔblɛm wit balans ɔ kɔdineshɔn we yu de waka .
• If i tan lɛk se i nɔ izi fɔ tɔk .
• If yu kin fil wɔri ɔltɛm ɛn i nɔ kin izi fɔ yu fɔ ɔndastand skul wok .

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

Yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• ‘Dɔkta, aw a go ɛp mi pikin?’ i aks am.
• ‘Us kayn tritmɛnt yu kin advays?’ i aks am.
• ‘Us ɔda sayn dɛn we a fɔ luk fɔ?’ i aks am.
• ‘Aw mi pikin in layf go tan lɛk?’ i aks am.
• ‘Ɛni nyu klinik trial de fɔ dis sik?’

We yu si yu pikin gɛt in fɔs sik we dɛn kɔl seizure, ɛn afta dat ɛvri tɛm afta dat, i kin mek yu fred. Yu kin fil se yu nɔr ebul fɔ du natin, ɔr lɛk yu jɔs de wet fɔ mek di klok tik te di sayn dɛm fɔ Lafora tek yu pikin. Lafora na wan sik we rili sɔri. Bɔt yu nɔ nid fɔ go tru dis waka yu wan. Di mɛdikal tim we de trit yu pikin de fɔ ɛp yu. Dɛn go tray fɔ gi yu pikin ɔl wetin i nid ɛn mek i fil fayn.

Dɔn bak, yu pikin in mɛdikal tim kin ɛp yu ɛn di ɔda pipul dɛn na yu famili insay dis tranga tɛm. Yu kin si se e fayn fɔ tɔk to pɔrsin wae de gi yu mɛntɛl hεlth ɔr jɔyn sɔpɔt grup wit ɔda pipul dɛm wae dɔn pas dis kayn tin. Mɛmba se, bɔku tɛm, di nyu tritmɛnt dɛn we dɛn kin gi ɛn we dɛn dɔn mek fayn, kin min se sɔm pikin dɛn kin liv lɔng pas aw dɛn bin fɔ dɔn tink. So, nɔ ɛva giv ɔp op.

Faynal Mɛsej fɔ Tek-Hom

Lafora Disease na wan sik wae kin rili tranga ɛn nɔr kin bɔrku. Na nɔmal tin fɔ lɛ yu fil bad ɛn fil bad we yu yɛri sɔntin lɛk dis. Bɔt, di tin we impɔtant pas ɔl na fɔ no se nɔto yu wangren de. Pipul dɛn de wae kin gi yu pikin di bɛst mɛrɛsin ɛn ɛp yu ɛn yu famili fɔ bia dis tranga tɛm. Ɔltɛm, yu fɔ no bɔt nyu risach ɛn nyu tritmɛnt dɛn. Gɛt op ɔltɛm. Dɔn bak, nɔr fɔgɛt fɔ tek kia ɔf yu maynd wɛl bɔdi pan dis joyn. Di mɔ yu strɔng, na di mɔ yu pikin go bɛtɛ.

` Lafora Sik, Maygren, Fit, Siiz, Jɛnɛtik Sik, Pikin dɛn Sik, Nyurolɔjik Sik, EPM2A, EPM2B, Lafora Bɔdi, Lafora Bɔdi