Wetin na Prion Disease? Lɛ wi fɛn ɔndastand di rayt tin we i bi!

Yu dɔn ɛva yɛri bɔt dis ‘Prion Disease’? Sɔntɛm dis nem na nyu tin to yu smɔl. De rizin na dat dis na grup fɔ sik wae nɔr kin bɔrku na di wɔl. Bɔt i rili impɔtant fɔ no bɔt dis sik, bikɔs i kin afɛkt wi bren dairekt wan ɛn di sayn dɛm kin tranga kwik kwik wan. I kin apin to mɔtalman ɛn bak pan animal dɛn.

Wetin na Prion Disease?

Fɔ tɔk am simpul wan, priɔn sik na wan grup ɔf sik dɛn we wan nɔmal protin na wi bren we de chenj abnɔmal wan to bad bad protin dɛn we dɛn kɔl ``prions.'' Imajin wan gud sɛl na wi bɔdi we de tɔn wantɛm wantɛm to bad, chenj chenj.

we dεn abnכmal prion protin dεm ya kכmכt na di bren, dεn kin bigin fכ pwεl di bren sεl dεm. Fɔ tɔk di kɔrɛkt tin, dis na sik we de mek pɔsin nɔ ebul fɔ du di wok . As tɛm de go, dis pwɛl hat kin mek di bren nɔr de woke fayn smɔl smɔl, ɛn dis kin mek pɔrsin gɛt sik lɛk dis maynia sik . Dis min se yu nɔ de mɛmba tin igen, i nɔ kin izi fɔ yu fɔ tink, ɛn yu nɔ kin ebul fɔ du yu wok. De tin wae denja pas ɔl bɔt dis sik na wae dɛn sik ya kin bigin wantɛm wantɛm ɛn kin go bifo kwik kwik wan. Dis sik kin ambɔg lɛk wan pan ɛvri milyɔn pipul dɛn ɔlsay na di wɔl. Dis min se i nɔ kin apin so ɔltɛm.

Prion sik na ɔnfɔni sik dɛn we de kil pɔsin . Dis min se wans di sik dɔn bigin, i nɔ kin izi fɔ mɛn am. Dɔktɔ dɛn kin tray fɔ kɔntrol di sik dɛn ɛn mek di pɔsin fil fayn as dɛn ebul. Dɛn kin ɛp di pɔsin bak fɔ bia wit di impak we di sik gɛt pan in layf, in famili, ɛn di wan dɛn we de kia fɔ am.

Aw dɛn prion sik ya kin kam?

Tri men we dɛn de we pɔsin kin gɛt prion sik.

1. bay we yu gεt jεnεtik mכtεshכn (dεn kכl dis famili prion sik).

2. Bay infεkshכn (dεn kכl dis akwyayz prion sik).

3. Bɔt bɔku tɛm, dis sik kin apin we nɔ gɛt ɛni jɛnɛtik kɔz ɔ infɛkshɔn we kɔmɔt na do . Risach pipul ɛn dɔktɔ dɛn kin kɔl dis ‘sporadic prion disease’.

Naw lɛ wi luk ɛni wan pan dɛn we ya smɔl smɔl.

Sporadik Prion Sik dɛn

Dis na di kayn sik wae kin kam pan pɔrsin wae gɛt prion. Wetin kin apin ya na dat, fɔ no rizin, di nɔmal prɔtin dɛn na di bren kin tɔn wantɛm wantɛm to di bad ‘prion’ dɛn we wi bin dɔn tɔk bɔt. Wi nɔ no di rayt rizin we mek dis kin apin stil.

Di men sik dɛm wae de pan dis kayn sik na:

• Creutzfeldt-Jakob sik (CJD) : Dis kin mek 85% pan di sik dɛm we kin kam wit prion we kin apin wan wan tɛm. Na di kayn we we kɔmɔn pas ɔl.
• Sporadik fatal inshɔmnia we kin kil pɔsin: Dis na tin we rili rare. Ivin rarer pas hereditary fatal insomnia.
• Variable protease-sensitive prionopathy : Dis na bak wan sik we kin rili rare sporadik prion.

Famili Prion Sik dɛn

dis kayn prion sik de kכz fכ wan mכtεshכn na wan jin we dεn kכl `PRNP` insay wi jin dεm. di sik kin apin if di mכtayshכn kכmכt frכm di mama כ di papa (dεn kכl dis `autosomal dominant inheritance`). mכr dan 50 difrεn mכtεshכn dεm na di `PRNP` jin dεn dכn no, εn εvri mכtεshכn kin mek difrεn tכp dεm fכ hεridita prion sik.

Sɔm sik dɛm wae de pan dis kayn sik:

• Famili Krutzfeldt-Jakob sik (CJD) .
• Gerstmann-Sträussler-Scheinker (GSS) syndrome : Dis kin rili, rili rare. I kin apin pan wan to tɛn pipul dɛn pan 100 milyɔn pipul dɛn ɔlsay na di wɔl.
• Fatal famili insomnia : Dis kin ivin rare pas GSS syndrome. Na 50 to 70 famili dɛn nɔmɔ ɔlsay na di wɔl gɛt di jenɛtik chenj we de mek pɔsin gɛt dis sik.
• כda prion sik dεm we kכz bay mכtεshכn na di PRNP jin dεn dכn ripot bak. Fɔ ɛgzampul, 11 pipul dɛn na wan British famili bin gɛt sɔm kayn sik dɛn lɛk dayarɛa, sensory autonomic neuropathy, seizure, ɛn dimɛnshɔn. Dis sik wae dɛn kɔl autonomic neuropathy, kin afɛkt tin dɛm lɛk yu blɔd prɛshɔn, yu at rit, ɛn yu bɔdi ɛn urinary incontinence.

Di sik we dɛn kɔl Prion Disease we dɛn dɔn gɛt

Dis na di we wae nɔr kin pasmak fɔ gɛt prion sik. Na ya, pɔsin kin gɛt di sik bay we i it it we gɛt prɛyɔn (fɔ ɛgzampul, mit frɔm kaw we gɛt ‘mad kaw sik’) ɔ bay we i yuz mɛrɛsin we gɛt dɔti (fɔ ɛgzampul, we dɛn de du ɔpreshɔn).

• Kuru na di fכs kes fכ dis kayn infεkshכn nyurodijεnεraytiv sik we dεn no εn stכdi. Dɛn bin fɛn am wit di Fɔr pipul dɛn na Papua Nyu Gini. Dɛn biliv se i bin de skata tru sɔm pan dɛn ritual dɛn (lɛk fɔ it mɔtalman bɔdi).

Bɔt gud tin na dat, di strikt we fɔ klin tide fɔ di mɛrɛsin ikwipmɛnt ɛn fɔ pe atɛnshɔn to sef fɔ it dɔn rili ridyus di prɛyɔn sik dɛn we de prɛd dis we.

Wetin na di denja pas ɔl pan prion sik dɛm?

Infakt, ɔl di sik dɛn we dɛn kin gɛt we dɛn kɔl prion kin kil pɔsin . Dat min se if yu gɛt di sik, yu go mɔs day. Bɔrku tɛm, di pɔrsin kin day insay sɔm mɔnt to tri ia afta di sayn dɛm fɔ prion sik bigin.

Wetin na di sayn dɛm fɔ prion sik?

Di sayn dɛm fɔ prion sik kin difrɛn, i kin dipen pan di kayn prion sik ɛn us pat pan di bren de afɛkt. Bɔt bɔku tɛm, pipul dɛn we gɛt prion sik kin gɛt prɔblɛm wit dɛn nervɔs sistɛm we kin wɔs smɔl smɔl.

Dis na sɔm pan de sik wae kin kam pan pɔrsin:

• Difrɛns fɔ waka, fɔ stag (`Ataxia`) .
• I nɔ izi fɔ tɔk, fɔ slɔk wɔd dɛn (`Aphasia`) .
• Kɔnfyushɔn, disoriɛnteshɔn
• Nɔ ebul slip
• Memori lɔs, i nɔ kin izi fɔ tink ɛn disayd fɔ du sɔntin
• Slow muvmεnt כ mכsul stiffness (`Hypokinetic movement disorders`)
• Wantɛm wantɛm, i de shek (`Myoclonus`) .
• Pɔsin kin chenj (e.g., i kin vɛks, i kin vɛks) .
• Prɔblɛm na yu maynd (e.g. wae yu de wɔri, wae yu gɛt pwɛl hat, ɛn sɔmtɛm ivin yu kin si tin dɛm wae yu de si) .

Imajin, sɔmbɔdi we rili nia yu bigin chenj wantɛm wantɛm. I de fɔgɛt tin, i nɔ ebul fɔ tɔk di we aw i bin de tɔk trade, i nɔ izi fɔ waka. Aw e kin mek yu fil bad fɔ si dɛn sayn ya?

Wetin na di kɔmplikeshɔn dɛm wae kin kam wit prion sik dɛm?

Di kɔmplikeshɔn dɛm wae kin kam wit prion sik kin gɛt fɔ du wit dɛnsɛf, wae kin mek wan kaskad ɔf kɔmplikeshɔn wae kin gɛt big impak nɔr to di sikman nɔmɔ, bɔt bak pan di famili ɛn padi dɛm wae de kia fɔ dɛm.

Dɛn kɔmplikeshɔn ya kin apin insay sɔm mɔnt ɔr wan ia afta di sik bigin:

• Nɔ ebul fɔ du in yon wok
• Dimɛnshɔn ( i kin lɛf smɔl fɔ lɛ yu mɛmba ɔltin) .
• Nɔ ebul fɔ tɔk (`Mutism`) .
• Kɔma (dis na di las stej) .

We pɔsin gɛt prion sik, i kin bigin fɔ abop pan ɔda pipul dɛn kwik kwik wan. Famili ɛn ɔda pipul dɛn de fɔ kia fɔ dɛn ɛn ɛp dɛn. Dis tɛm ya, fɔ wach di pɔsin we dɛn lɛk we dɛn nɔ de mɛmba, we i nɔ ebul fɔ tɔk, ɛn we dɛn de chenj dɛn abit kin rili strɛs di wan dɛn we de kia fɔ dɛn.

Wetin mek dɛn prion sik ya kin apin?

Dis na smɔl sayɛns tin, bɔt a go put am simpul wan. Prion sik dεm de stat we wan nכmal prion protin na wi bren (we dεn kכl `PrPc`) de tכn to abnכmal, misfold protin (dεn kכl am `PrPSc` - dat na prion).

dis abnכmal prion dεm (`PrPSc`) de stat fכ agregεt, כ biεn to, nכmal prion protin dεm (`PrPc`), we de tכn dεm to abnכmal prion dεm. I tan lɛk se yu trowe bad apul insay wan bɔku bɔku gud apul dɛn, ɛn di ɔda wan dɛn go bad bak. As tεm de go, dεn abnכmal prion protin dεm ya de pwεl כ pwεl di nεv sεl dεm na di bren. Na da tɛm de yu nɔ ebul fɔ waka, tink, ɔ tɔk fayn.

Aw dɛn kin no di sik we dɛn kɔl prion sik?

Dɔktɔ dɛn kin yuz dɛn tɛst ya fɔ no if yu gɛt prion sik:

• bכdi tεst εn lכmba pankshכn : dεn de skrεn pipul dεm we gεt jεnεtik mכtεshכn we de mek dεn gεt prion sik dεm fכ bayomak dεm fכ di sik כ damej na dεn blכd כ sεribrospεnal fכluid (di wata we de rawnd di bren εn spεnal kכd).
• Bren MRI skan : Dis kin tek rili klia pikchɔ dɛm fɔ di bren, so dɔktɔ kin luk fɔ sayn dɛm fɔ prion sik.
• ilektroεnsεfalogram (EEG) : Dis de mכsu di ilektrikal aktiviti na di bren.
• Rial-taym quaking-induced conversion assay (RT-QuIC) : insay dis tεst, di patכlayz dεm de luk fכ prכn dεm na di spεnal fכluid. Dis na nyu tɛst we rili kɔrɛkt.

Yu tink se mɛrɛsin de fɔ prion sik dɛn?

Bɔt i sɔri fɔ no se dɔktɔ dɛn nɔ dɔn fɛn mɛrɛsin yet fɔ prion sik ɔ tritmɛnt we go ebul fɔ kɔntrol aw di sik de go bifo. Prion sik na sik dɛn we kin mek pɔsin in layf de pan denja . Bɔrku pipul dɛn kin day insay sɔm mɔnt to ia afta dɛn dɔn no se dɛn gɛt wan sik we dɛn kɔl prion.

Di tritmɛnt de pe atɛnshɔn pan palliativ kia . Dis min fɔ kɔntrol di sayn dɛm ɛn mek di pɔsin fil fayn ɛn nɔr de fil pen as yu ebul. Fɔ ɛgzampul, dɔktɔ dɛn kin gi yu mɛrɛsin fɔ tin dɛn lɛk:

• Antiseizure drɔgs ɔ mɔsul rilaksant fɔ myoklonus.
• Opioid fɔ pen.

Us kayn fiuja pɔsin we gɛt prion sik gɛt?

Dis tɛm, no mɛrɛsin ɔ tritmɛnt nɔ de fɔ prion sik. Bɔt di wan dɛn we de stɔdi bɔt dis de chɛk dis insay tu we dɛn, we kin mek dɛn no di sik kwik kwik wan ɛn di tritmɛnt dɛn we dɛn go gɛt tumara bambay.

di tεst we wi bin dכn tכk bכt di `RT-QuIC` dεn dכn εp fכ no di prion sik bifo di damej we nכ go ebul fכ rεvεrs di bren. Risach pipul dεm de stכdi bak prכn dεm fכ fכn we fכ stכp di fכmeshכn fכ dεn abnכmal protin dεm ya εn fכ mek nכmal protin dεm nכ bi abnכmal.

Wetin a fɔ du if a gɛt prion sik?

Bikɔs prion sik kin go bifo kwik kwik wan, i kin tranga fɔ mek yu du yu yon wok. If yu gɛt dis sik, i fayn fɔ mek yu dɔn kɔmplit wan ``advance directive'' .

Advans dairektv na ligal dɔkyumɛnt dɛn. Ɛgzampul dɛn:

• Living wills : If yu gɛt sik we nɔ go mɛn lɛk prion sik, dis dɔkyumɛnt kin sho wetin yu want fɔ apin to yu (e.g. if yu want sɔm tritmɛnt ɔ nɔ want).
• Durable power of attorney for healthcare (DPA): Dis dɔkyumɛnt kin gi nem to udat go disayd fɔ du yu wɛlbɔdi biznɛs if yu nɔ ebul fɔ tɔk fɔ yusɛf igen.

If yu plan tin dɛn lɛk dis bifo tɛm, yu go ridyus di strɛs we yu ɛn yu famili go gɛt leta.

Wetin fɔ du if pɔsin na di famili gɛt wan sik we dɛn kɔl prion we dɛn kin gɛt frɔm in mama ɛn papa?

Sɔntɛnde, pipul dɛn kin gɛt difrɛn kayn we aw dɛn kin chenj dɛn jɛnɛtiks we kin mek dɛn gɛt mɔ sik we dɛn kɔl prion. Jɛnɛtik tɛst kin no if yu gɛt wan ɔ mɔ pan di jin chenj dɛn we kin mek pɔsin gɛt prion sik. Dɛn tɛst ya kin sho bak yu patikyula risk.

Fɔ mek dɛn du di jenɛtik tɛst fɔ wan sik we de kil pɔsin na sɔntin we pɔsin kin disayd fɔ du. Sɔm pipul dɛn nɔ kin want fɔ no if dɛn de pan denja. If yu want fɔ gɛt jenɛtik tɛst, aks dɔktɔ fɔ mek dɛn rifer yu. Fɔ ɛgzampul, na Amɛrika, institiushɔn dɛn de lɛk di ``National Prion Disease Pathology Surveillance Center`` fɔ dis. Spɛshal dɔktɔ dɛn de bak na Sri Lanka we kin advays bɔt dis.

Aw yu kin kia fɔ yu fambul we gɛt prion sik?

Dis sik lɛk dis kin tɔn yu ɔl yu layf ɛvride ɔpsayd. Pan ɔl we yu de dil wit di shɔk ɛn sɔri we yu de yɛri se yu pɔsin we yu lɛk gɛt sik we nɔ go mɛn, yu nid fɔ plan bak aw yu go kia fɔ yu famili. Na sɔm advays dɛn ya:

• Krio plan fɔ kia fɔ yu : Dipen pan yu situeshɔn, yu famili mɛmba kin nid fɔ kia fɔ dɛn na say usay dɛn de liv, ɔr dɛn kin nid fɔ kia fɔ dɛn na os, fɔ abop pan famili, padi, ɛn pɔsin we de ɛp dɛn fɔ gɛt wɛlbɔdi. Di pɔsin we yu lɛk kin nid ɛp fɔ du tin dɛn we yu kin du ɛvride, lɛk fɔ go na bafa ɛn it.
• Arenj fɔ kia fɔ dɛn na hospice : Prion sik na sik we kin kil pɔsin we kin kam wantɛm wantɛm ɛn i kin wɔs kwik kwik wan. If yu arenj fɔ kia fɔ dɛn bifo tɛm na di say usay dɛn de kia fɔ dɛn, di pɔsin we yu lɛk kin gɛt am we dɛn nid am.
• Krio kol envayroment : Pipul wae gɛt prion sik kin ɔltɛm fil bad fɔ tin dɛm wae kin apin wantɛm wantɛm (e.g., fɔ tɔch pɔrsin, yɛri lawd nɔys, fɔ de na say dɛm wae krawd). Dɛn kin vɛks ɔ vɛks. We dɛn de kia fɔ di say we dɛn de, dat kin ɛp dɛn fɔ de kwayɛt ɛn rilaks.

Na dis kayn tɛm, i impɔtant fɔ mek di pɔsin we de kia fɔ am tink bɔt insɛf bak. Yu nid fɔ rɛst ɛn sɔpɔt bak. Nɔ tray fɔ kɛr dis lod yu wan.

Ustɛm a fɔ go to dɔktɔ?

Di sayn dɛm fɔ prion sik kin wɔs kwik kwik wan. If yu ɔr pɔrsin na yu famili gɛt prion sik, yu fɔ woke wit yu dɔktɔ dɛm fɔ kɔntrol di ifɛkt dɛm wae de sik kin gɛt.

Na mɔtalman, if di sayn dɛm wae wi bin dɔn tɔk bɔt (lɛk wae yu nɔr de mɛmba fayn, yu nɔr kin ebul fɔ waka, yu nɔr kin ebul fɔ tɔk, yu kin chenj yu pɔrsin) bigin wan wan ɛn wɔs kwik kwik wan, go to dɔktɔ kwik kwik wan.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu no se yu ɔ pɔsin na yu famili gɛt prion sik, dat kin mek yu sɔprayz pasmak. Yu ɛn yu famili gɛt bɔku prɔblɛm dɛn naw, ɛn mɔ go apin as di sik de go bifo. Na sɔm kwɛstyɔn dɛn we go ɛp yu fɔ ɔndastand wetin fɔ ɛkspɛkt:

• Aw yu no se a gɛt prion sik?
• Us prion sik a gɛt?
• Aw dat kin afɛkt mi?
• Wetin a fɔ du nɛks?
• Wetin a go du fɔ kia fɔ mi famili?
• Yu tink se dɛn fɔ advays mi famili bɔt dɛn jɛnɛtiks ɛn tɛst dɛn?

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Prion sik na wan grup wae nɔr kin bɔrku, wae kin kil pɔrsin wae kin afɛkt yu bren. Prion simptom kin kam wan wan ɛn wɔs kwik kwik wan. I kin mek yu at pwɛl fɔ no se yu ɔ pɔsin we yu lɛk gɛt sik we nɔ gɛt mɛrɛsin ɔ tritmɛnt fɔ kɔntrol am.

Bɔt, tritmɛnt dɛn de fɔ ɛp fɔ kɔntrol di sayn dɛm . Ɛn program ɛn savis dɛn de fɔ ɛp di wan dɛn we gɛt prion sik ɛn di wan dɛn we de kia fɔ dɛn. If yu ɔr pɔrsin wae yu lɛk gɛt prion sik, nɔr frayd fɔ aks kwɛstyɔn ɛn aks fɔ ɛp. Nɔto yu wan de.

` Prion Sik, Bren Sik, Nyurolɔjik Sik, Dimɛnshɔn, CJD, Jɛnɛtik Sik