Yu tink se slip na jɔs drim? Lɛ wi tɔk bɔt Fatal Familial Insomnia (FFI).

Na nɔmal tin fɔ mek wi nɔ ebul fɔ slip na nɛt sɔntɛnde. Sɔntɛm i kin apin afta wan tranga de ɔ we wi gɛt sɔm kayn prɔblɛm na wi maynd. Bɔt, yu go ebul fɔ imajin wan sik we go kil yu we nɔ go ɛva mek yu slip fayn, ɛn dat sɛf na tin we yu gɛt frɔm yu mama ɛn papa? I rili at fɔ imajin, nɔto so? Tide wi go tɔk bɔt dis kayn sik we nɔ bɔku bɔt we rili denja. Dɛn kɔl dis Fatal Familial Insomnia (FFI) . Di nem de mek yu fred smɔl, nɔto so? Bɔt lɛ wi kam fɔ no am gud gud wan.

Wetin na dis FFI? Fɔ tɔk am simpul wan...

Fɔ tɔk am simpul wan, FFI (Fatal Familial Insomnia) na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks. I kin afɛkt yu bren ɛn yu sɛntral nervɔs sistɛm dairekt wan. Dis sik kin mek yu nɔ de slip fayn, we min se yu nɔ kin ebul fɔ slip bad bad wan . Apat frɔm dat, smɔl smɔl yu kin lɔs yu mɛmori, dat min se yu gɛt dis maynia sik . Yu kin gɛt bak di mɔsul dɛn kin twitch we yu nɔ want, we dɛn kɔl myoclonus .

FFI na wan sik we de go bifo, ɔ we de pwɛl . Dis min se di sayn dɛm kin wɔs as tɛm de go. I sɔri fɔ no se di sayn dɛn we dɛn kin gɛt kin mek pɔsin in layf de pan denja, ɛn naw dɛn nɔ gɛt ɛni mɛrɛsin fɔ mɛn am. Bɔt sayɛnsman dɛn de kɔntinyu fɔ du risach bɔt di tritmɛnt dɛn we go mek di sik nɔ go bifo kwik kwik wan ɛn mek di wan dɛn we gɛt di sik go liv lɔng.

Udat kin gɛt mɔ chans fɔ gɛt FFI?

FFI na di mεntal kכz fכ di jεnεtiks. Dis min se na pipul dɛm we gɛt di jin fɔ dis sik frɔm wan pan dɛn mama ɛn papa kin mek am. Bɔku tɛm, if pɔsin na di famili dɔn gɛt dis sik bifo, da famili de gɛt chans fɔ gɛt dis sik. Bikɔs, ivin if yu gɛt wan kɔpi fɔ di jin we dɔn chenj, na in go du fɔ mek yu gɛt dɛn sik ya. dεn kכl dis כtosom dכminant patεn insay mεdisin.

Bɔt, rili, rili smɔl, pɔsin we nɔ gɛt famili histri bɔt di sik kin gɛt FFI. dis kin apin we nyu jin mכtεshכn (de novo mכtεshכn) de apin. Dis min se di jin we nɔ fayn na nyu we fɔm na da pɔsin de in bɔdi.

Aw dis sik nɔ kin bɔku we dɛn kɔl FFI?

FFI na rili wan sik we nɔ kin bɔku. Dɛn se na wan ɔ tu pipul dɛn nɔmɔ pan wan milyɔn pipul dɛn gɛt dis sik. Bikɔs FFI na jɛnɛtiks, na lɛk 50 to 70 famili dɛn nɔmɔ ɔlsay na di wɔl dɛn dɔn no se gɛt di jin muteshɔn we de mek dis sik. So yu kin imajin aw i nɔ kin bɔku.

Aw FFI sik kin afɛkt wi bɔdi?

FFI de tכk bכt wi bren εn sεntri nεv sεstem dεm dεn wan dεm. Sɔm prɔtin dɛn we di jɛnɛtik chenj kin mek kin afɛkt di thalamus, we na wan pat pan wi bren we de kɔntrol di wok we di bɔdi de du lɛk slip.I kin gɛda na di ples usay dɛn tɔk am. Imajin se bifo yu fol yu klos fayn fayn wan ɛn put am na yu kloz, yu de krɔs am, rol am, ɛn pres am. Afta sɔm tɛm, di kloz kin ful-ɔp wit klos dat yu nɔ kin ebul fɔ lɔk am, nɔto so? na so dεn protin dεm ya we dεn misfold kin kכmכt na di bren in thalamus. Dɛn prɔtin dɛn ya we kin gɛda kin pwɛl ɛn pɔyzin di sɛl dɛn na di nervɔs sistɛm.

De sayn wae de sho dis pasmak na wae yu nɔr de slip , wae kin gɛt bɔrku impak pan yu maynd ɛn yu bɔdi woke. De sayn dɛm kin mek yu layf de pan denja ɛn kin wɔs as tɛm de go.

Wetin na di sayn dɛm fɔ FFI?

Bɔku sayn dɛn de fɔ FFI, we kin bigin fɔ sho smɔl smɔl.

• Progressive insomnia: Fɔs, i kin tan lɛk se yu jɔs gɛt prɔblɛm fɔ slip, bɔt leta yu nɔ kin ebul fɔ slip atɔl.
• Di nervous system we de wok pasmak: Dis kin inklud tin dɛm lɛk ay blɔd prɛshɔn, at rit kwik pas aw i kin bi, ɛn fɔ wɔri pasmak.
• Yu nɔ de mɛmba tin: Smɔl smɔl yu kin bigin fɔ fɔgɛt tin dɛn.
• Hallucinations: Fɔ si ɔ fil tin dɛn we nɔ rili de.
• di mכsul dεm we yu nכ de twitch כ jכk (myoclonus): I de jכk כ shek yu an כ leg we yu nכ want.

Di sayn dɛm fɔ FFI kin bigin bitwin di ej dɛm fɔ 20 ɛn 70. Di ej wae kin kam fɔ bigin na arawnd 40 ia.

Impɔtant tin na dat, sɔmtɛm di fɔs sayn dɛm wae de sho se yu gɛt FFI kin tan lɛk di wan dɛm wae gɛt dis maynia sik ɔr Alzaima sik . So, if yu gɛt dɛn kayn sik ya, i impɔtant fɔ go to dɔktɔ fɔ mek dɛn no di sik fayn fayn wan. As di nem sho, dɛn sik ya kin mek pɔsin in layf de pan denja.

Wetin kin mek pɔsin gɛt FFI?

di men tin we de mek FFI na di muteshon, כ chenj, na di PRNP jin . dis PRNP jin de rispansabl fכ mek di prion protin PrPC . dis PrPC protin de insay wi bren, spεshal wan na di thalamus, we na wan pat pan di bren we de kכntro di bכdi wok lεk slip.

we mכtεshכn de na di PRNP jin, di amino asid dεm we de mek di PrPC protin nכ de gεt di kכrekt instrכkshכn fכ mek dis protin kכrekt wan. I tan lɛk se yu de fol wan shit di rɔŋ we. If yu nɔ no aw fɔ fold T-shirt kɔrɛkt wan, yu kin krɔs am ɛn put am na drɔwa. As tɛm de go, di bɔku bɔku T-shirt dɛn we yu dɔn fold di rayt we de mek i nɔ pɔsibul fɔ lɔk di drɔwa. di sem we, dis PrPC protin we dεn fכl kכrekt wan de kכmכt na di bren εn i de pכyzin di sεl dεm na di nεv sεstem, we na in de mek di simptom dεm.

Yu tink se dɛn kin gɛt FFI?

Yes, FFI kin bi inherit. Dis jenɛtik muteshɔni de transmit insay wan כtosom dכminant patεn. Dis min se ivin if na wan pan yu mama ɛn papa nɔmɔ yu gɛt di jin we di sik, yu kin stil gɛt di sik.

Bɔt as wi bin dɔn tɔk, FFI nɔ kin rili gɛt ɔtosɔmal rɛsɛsiv, we min se nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo, ɛn i kin apin bak as nyu jɛnɛtik muteshɔn. If dat apin, dat nyu mutation kin pas frɔm yu to yu pikin dɛn we yu go gɛt tumara bambay.

If yu de op fɔ bɔn pikin ɛn yu want fɔ no bɔt di risk we yu go gɛt fɔ pas wan sik we yu gɛt frɔm yu pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ ɛn no bɔt aw fɔ tɛst yu jɛnɛtiks .

Wetin kin mek pipul dɛm wae gɛt FFI day?

Di men tin we kin mek pipul dɛn we gɛt FFI day na di damej pan di bren ɛn di nervɔs sistɛm. dis dεm we dεn dכn pwεl, we di prion protin dεm we de kכmכt na di thalamus, de mek yu gεt siriכs simptom dεm lεk we yu nכ de slip εn yu maynd de dכn.

Wetin mek slip impɔtant to wi?

Slip kin rili impɔtant fɔ mek wi gɛt wɛlbɔdi. We yu slip fayn na nɛt, dat kin mek yu maynd ɛn bɔdi gɛt wɛlbɔdi. We yu de slip, yu bren de wok togɛda wit yu bɔdi, ɛn na dat de mek yu wek wit trɛnk ɛn trɛnk na mɔnin. If yu nɔ slip bɛtɛ, yu bren nɔ go ebul fɔ chaj bak. I kin afɛkt di we aw yu de tink ɛn di we aw yu bɔdi de wok. We yu bren nɔ de wok 100%, i kin afɛkt di we aw yu bɔdi de fil ɛn du tin as a rizulta.

Pipul dɛn we gɛt FFI nɔ kin ebul fɔ slip, we kin rili ambɔg dɛn bren wok. Dis kin mek dɛn gɛt bad bad sayd ɛfɛkt dɛn we kin mek dɛn layf de pan denja ɛn chalenj dɛn ɔl wɛlbɔdi.

Aw dɛn kin no FFI?

Yu dɔktɔ go no se yu gɛt FFI bay we i go luk bak pan yu sik dɛn ɛn du sɔm tɛst fɔ kɔnfirm se yu gɛt di sik. Dɛn tɛst ya kin bi:

• Polisomnografi: Dis na tɛst we gɛt fɔ du wit slip.
• Ilɛktroɛnsɛfalogram (EEG): Dis de mɛzhɔ di we aw di bren de wev.
• sεribrospεnal Fluid (CSF) analisis: Dis tεst de egzamin di fכluid we de na di bren εn spεnal kכd fכ no di kכndishכn dεm we de afekt di bren εn spεnal kכd.
• Jεnεtik tεst fכ no di jin we de rispansabl fכ di simptom dεm.
• Imej tɛst: Dis kin inklud MRI (Magnetic Resonance Imaging) , CT skan (Computed Tomography scan) , ɔ PET skan (Positron Emission Tomography scan) .
• Kɔmplit Blɔd Kɔnt (CBC) , tɛst fɔ no aw di liva de wok , ɛn fɔ mek blɔd kɔlchɔLabɔrɔtɔri tɛst dɛn lɛk.

Aw dɛn kin trit FFI?

Di men tin we dɛn de pe atɛnshɔn pan fɔ tritmɛnt fɔ FFI na fɔ pul di sik dɛn we de apin ɛn mek yu fil fayn as yu ebul. Sɔm tritmɛnt dɛn we yu kin gɛt, mɔ di mɛrɛsin dɛn, kin ɛp fɔ mek yu nɔ gɛt di sik fɔ sɔm tɛm. Bɔt naw, no mɛrɛsin nɔ de fɔ FFI.

Di tritmɛnt we dɛn kin pik kin bi:

• Fɔ gi drɔgs fɔ mek pɔsin slip dip (e.g. (gamma-hydroxybutyrate) , (phenothiazines) ).
• Trit di mɔsul dɛn we de spam bay we yu gi yu mɛrɛsin lɛk klonazepam .
• Fɔ gi vaytamɛn dɛn ( B6, B12, ayɛn, fɔlik asid ).
• If mɛrɛsin de we de mek di sik wɔs, chenj dɛn doz ɔ stɔp dɛn.
• Saykososial tɛrapi: Fɔ gi saykolojik sɔpɔt to di pɔsin ɛn in famili.
• Hospice care / Palliative care: Fɔ mek di pɔsin in las de dɛn fil fayn.

Risach de kɔntinyu fɔ fɛn nyu tritmɛnt opshɔn fɔ pipul dɛn we gɛt FFI. Wan stɔdi dɔn sho se di antibayɔtik dɔksisayklin dɔn sho sɔm sakrifays fɔ mek di wan dɛn we gɛt FFI liv lɔng.

Us mɛrɛsin dɛn nɔ de wok fayn fɔ trit FFI?

Sɔm mɛrɛsin dɛn we de ɛp yu fɔ slip, lɛk melatonin supliment, de wok fɔ sɔm tɛm nɔmɔ fɔ trit FFI. Risach dɔn sho se mɛrɛsin dɛn we de mek pɔsin fil fayn , lɛk barbiturates ɛn benzodiazepines , nɔto fayn tritmɛnt.

Wetin pɔsin we gɛt FFI kin ɛkspɛkt?

No mɛrɛsin nɔ de fɔ FFI. Wae yu dɔn no se yu gɛt dis sik, di tritmɛnt de fɔ mek yu fil fayn ɛn fɔ kɔntrol yu sayn dɛm. Dis min se palliativ kia na di men tin. Di layf we pɔsin we gɛt FFI kin liv kin shɔt - mɔ afta di sik bigin, di avɛrej tɛm fɔ liv kin bi ɛnisay frɔm sɔm mɔnt to lɛk tu ia. Di sik de go bifo.

Sɔmtɛm lɛk dis, i kin rili impɔtant fɔ mek famili dɛn kam togɛda, nɔ jɔs tink bɔt di kia we di pɔsin nid, bɔt dɛn fɔ tink bak bɔt dɛn yon maynd wɛlbɔdi, rɛdi fɔ di pɔsin we dɛn lɛk we dɛn lɔs wantɛm wantɛm, ɛn fɛn sɔpɔt fɔ tritmɛnt if nid de.

Yu tink se dɛn kin ebul fɔ stɔp FFI?

FFI nɔ go ebul fɔ stɔp. Bikɔs na wan jenɛtik chenj de mek i apin, sɔntɛnde i kin apin fɔ insɛf, ɛn nɔbɔdi nɔ bin dɔn gɛt dis sik bifo.

Ustɛm yu fɔ go to dɔktɔ?

If yu gɛt prɔblɛm fɔ slip, mɔ na di de, ɛn i nɔ de bɛtɛ, yu fɔ go to dɔktɔ. Di simptom dɛm fɔ FFI Dimɛnshɔn ɛn Alzaima sikIf yu gɛt prɔblɛm fɔ slip, lɛk we yu nɔ de mɛmba fayn ɛn i nɔ izi fɔ kɔntrol aw yu bɔdi de wok, bikɔs ɔf sik dɛn lɛk ɛpilepshi, yu fɔ rili go to dɔktɔ.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

• Yu go rεkomεnd fכ kia fכ hospice na dis tεm na dis diagnosis?
• Aw di sayn dɛm kin tranga?
• Ɛni tritmɛnt de we go ɛp fɔ mek yu nɔ gɛt di sik?

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

Fɔ gɛt diagnosis fɔ FFI kin bi bad bad tin, mɔ we di sayn dɛn kin wɔs smɔl smɔl fɔ sɔm mɔnt. Bɔt, nɔto yu wangren de insay dis tɛm. Aks fɔ sɔpɔt frɔm yu dɔktɔ, fambul, padi, ɛn pipul dɛm wae sabi bɔt mɛntɛl hεlth. Palliative care ɛn di tritmɛnt opshɔn dɛm wae de naw kin ɛp fɔ pul yu sik dɛm fɔ sɔm tɛm. Risach de go bifo fɔ fɛn mɔr tritmɛnt wae go ɛp pipul dɛm wae gɛt dis sik fɔ lɔng tɛm. So, nɔ giv ɔp fɔ op.

` Fatal Familial Insomnia, FFI, insomnia, jenɛtik sik, bren sik, nervɔs sistɛm, prion sik