Yu no bɔt Alɛgzanda Sik? Lɛ wi tɔk bɔt dis sik we nɔ kin apin so ɔltɛm!

Yu dɔn ɛva yɛri bɔt Alɛgzanda Sik? Sɔntɛm yu nɔ ivin yɛri bɔt am. Di rizin na dat na wan rili, rili rare nyurolɔjik kɔndishɔn na di wɔl. Bɔt, i fayn fɔ gɛt sɔm no bɔt sik dɛn lɛk dis, nɔto so? Ɛspɛshali bikɔs wi kin bisin bɔt wi pikin dɛn wɛlbɔdi ɛn di divɛlɔpmɛnt ɔltɛm, i impɔtant fɔ no bɔt tin dɛn lɛk dis.

Wetin na Alɛgzanda Sik? Lɛ wi ɔndastand am simpul wan!

Okay, mek wi si wetin na Alɛgzanda Disiz. Fɔ tɔk am simpul wan, na sik we de afɛkt wi nervɔs sistɛm, di sistɛm we de kɛr mɛsej ɔlsay na di bɔdi . spεshal wan, i de afekt di "wayt mat" na wi bren. Dis wayt tin na di pat na di bren we gɛt bɔku nerve fayba dɛn.

Dis sik de pan wan grup fɔ sik dɛn we dɛn kɔl leukodystrophy . Pan ɔl we dis wɔd kin tan lɛk se i kɔmplikt smɔl, i de tɔk bɔt sik dɛn we kin pwɛl di wayt tin na di bren.

Insay Alɛgzanda sik, di men tin we kin pwɛl na wan pat we dɛn kɔl maylin . Maylin na wan tin we de kɔba wi nerve fayba dɛn we de protɛkt wi. Tink bɔt am lɛk di plastic sheath we de rawnd ilɛktrik waya. dis maylin sεt na in de alaw di nεv mεsej fכ travul fayn fayn wan εn kwik. so, we dis maylin dכn pwεl, di prכsεs fכ di nεv mεsej transmishכn de disrupt.

Dis kin mek pɔsin we gɛt Alɛgzanda sindrom kin gɛt difrɛn prɔblɛm dɛn, lɛk we i kin delay fɔ gro ɛn we i kin gɛt sik . Bɔt i sɔri fɔ no se dis sik na sik we de go bifo, ɛn sɔntɛnde i kin mek pɔsin in layf de pan denja. Naw, no mɛrɛsin nɔ de fɔ am.

Aw dis sik kin bɔku?

Alɛgzanda sik na sik we nɔ kin bɔku . Dɛn se dis sik kin apin pan lɛk wan pan ɛvri milyɔn pikin dɛn we dɛn bɔn . Wan dɔktɔ we kɔmɔt Ɔstrelia we nem Dɔktɔ W. Styuat Alɛgzanda , bin no di sik fɔ di fɔstɛm insay 1949. Na dat mek dɛn kɔl am Alɛgzanda sik.

Yu tink se difrɛn kayn sik dɛn de we Alɛgzanda gɛt?

Yɛs, dɔktɔ dɛn kin klas dis sik akɔdin to di ej we di sayn dɛn kin bigin fɔ sho. Bɔku men kayn dɛn de:

• Neonatal type: Dis kin rili rare. Di sayn dɛm kin sho insay di fɔs mɔnt we i de liv.
• di tכp fכ pikin dεm: Dis kayn de mek lεk 80% pan di sik dεm we dεn kin no se na Alɛgzanda sεndrכm. Di sayn dɛm kin bigin bifo i ol 2 ia .
• Juvenile type: Di sayn dɛm kin apia bitwin di ej dɛm fɔ 2 ɛn 13. Bɔt dɛn kin bɔku bitwin di ej dɛm fɔ 4 ɛn 10. Na lɛk 14% pan ɔl di diagnosis dɛmI de pan dis kayn.
• Adult type: Dis nɔr kin rili kɔmɔn bak. Bɔrku tɛm, di sayn dɛm nɔr kin so. Dis sik kin apin pan ɛni ej afta yu dɔn yɔŋ . Na lɛk 6% pan di diagnosis dɛm kin fɔdɔm pan dis kayn.

Wetin na di kɔz fɔ Alɛgzanda sik?

Insay 95% pan di wan dɛn we gɛt Alɛgzanda sik, wan chenj kin apin na wan jin . dis jin de εp fכ mek wan protin we dεn kכ l Glial Fibrillary Acid Protein (GFAP) . I sɔri fɔ no se dɛn stil nɔ no wetin mek di ɔda 5% pan di kes dɛm.

nכmal wan, dεn GFAP protin dεm ya de jכyn tכgeda fכ fכm lכng chen dεm (filament dεm). Dɛn chen ya de gi trɛnk ɛn sɔpɔt di sɛl dɛn na wi nervɔs sistɛm.

Bɔt pan pipul dɛn we gɛt Alɛgzanda sik, dɛn nɔ kin mek dis GFAP prɔtin fayn fayn wan. bifo dat, abnכmal protin kכlכm dεm we dεn kכl Rosenthal fayb dεm de kכmכt na ples dεm insay sεl dεm usay dεn nכ fכ de. dis Rosenthal fayb dεm na dεn de damej di myelin we wi bin dכn tכk bכt.

Udat dɛn kin gɛt dis sik?

Infakt, ɛnibɔdi kin gɛt dis sik. Bɔrku tɛm, di jin chenj kin apin randomly, fɔ no rizin. I nɔ kin izi fɔ mek pikin gɛt dis chenj na in jɛnɛtik frɔm in mama ɛn papa. Dis min se bɔrku pipul nɔr gɛt dis sik na dɛn famili .

Wetin na di sayn dɛm fɔ Alɛgzanda sik?

De sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dɔn bak, de sayn dɛm kin difrɛn fɔ di ej (tayp) wae de sik bigin.

Di simptom dɛm we di pikin we dɛn jɔs bɔn:

Dɛn sayn ya kin sho insɛf insay di fɔs mɔnt we i de liv.

• Hydrocephalus: Dis na we wata we de bɔku na pikin in bren. Dis kin mek di ed big.
• Megalencephaly: Di bren ɛn ed nɔ kin big.
• Seizures/Epilepsy: Na tin dɛm wae kin tan lɛk se yu kin gɛt sik ɔltɛm.
• Spasticity: di mכsul dεm de stiff, dεn de dכn fכ fleksibul.
• Divεlכpmεnt dilay: di pikin in nכ de divεlכp di rεt we di pikin in ej. Fɔ ɛgzampul, di nɛk trɛnk, fɔ rɔl oba, ɛn sidɔm kin te.
• Fɔ nɔ ebul fɔ gro fayn ɔ fɔ gɛt wet fayn fayn wan.

Di sayn dɛn we pikin kin gɛt:

Dɛn sayn ya kin bigin insay di fɔs siks mɔnt, bɔt sɔmtɛm dɛn kin bigin lɛk 24 mɔnt, ɔr lɛk tu ia. Di sayn dɛm kin fiba di wan dɛm we dɛn kin si we dɛn de bɔn pikin.

Di simptom dɛm we kin bigin frɔm yɔŋ pipul dɛm:

Dɛn sayn ya kin apin bitwin 4 ɛn 10 ia.

• I nɔ izi fɔ swɛla ɛn tɔk.
• Ataxia we pɔsin kin gɛt: .Dis kin min prɔblɛm wit balans, kɔdineshɔn, ɛn muvmɛnt, lɛk fɔ nɔ ebul fɔ waka ɔ fɔ gɛt prɔblɛm fɔ ɔndastand tin.
• di mכsul prכblεm dεm: tin dεm lεk di mכsul dεm we stif (spasticity), di mכsul dεm we de pen, di mכsul dεm we de spam.
• Fɔ vɔmit ɔltɛm.

Di sayn dɛm wae kin kam wae pɔrsin dɔn big:

Dɛn sayn ya kin apia ɛnitɛm wae pɔrsin dɔn big. Bɔku tɛm, dɛn kin tan lɛk di wan dɛn we dɛn kin si we dɛn smɔl, bɔt dɛn kin shek bak. Sɔntɛnde, dɛn sayn ya kin tan lɛk ɔda sik dɛn lɛk Pakinsin sik ɔr multiple sclerosis , so i impɔtant fɔ no di kɔrɛkt tin bɔt di sik.

Aw dɛn kin no se Alɛgzanda sik?

Yu dɔktɔ go tek tɛm luk yu ɔ yu pikin in sik fɔs. Apat frɔm dat, dɛn kin du tɛst dɛn bak lɛk:

• MRI skan (MRI - Magnetic Resonance Imaging): Dis kin luk fɔ ɛni chenj na di bren. spεshal wan, MRI kin sho chenj dεm na di wayt mat, lεk sayn dεm fכ di Rosenthal fayb dεm.
• Jεnεtik tεst: Dis na bכdi tεst we kin kכnfכm if mכtεshכn de na di GFAP jin we de mek Alεkstran sεndrכm.

Aw dɛn kin trit dis sik? Aw dɛn de manej am?

Bɔt i sɔri fɔ no se, dɛn stil nɔ gɛt mɛrɛsin fɔ Alɛgzanda in sik. Di tritmɛnt dɛn we dɛn de du naw kin mɔ fɔ kɔntrol di sayn dɛm ɛn slo di sik fɔ go bifo .

Bɔt sayɛnsman dɛn de kɔntinyu fɔ du klinik trial fɔ fɛn nyu tritmɛnt fɔ dis sik. Yu kin tɔk to yu dɔktɔ bɔt if dis kayn trial fayn fɔ yu ɔ yu pikin.

Dipen pan di sayn dɛm, dɛn kin yuz dɛn tritmɛnt ya:

• Mɛrɛsin dɛn we de mek pɔsin nɔ gɛt sik.
• Fizik tɛrapi, ɔkupeshɔn tɛrapi, ɛn tɔk tɛrapi. Dɛn tin ya kin ɛp pikin fɔ muv fayn fayn wan, fɔ ebul fɔ du wok dɛn we i de du ɛvride, ɛn fɔ tɔk fayn.
• Fɔ haydrosɛfalɔs, we na wan sik we wata kin gɛda na di bren, dɛn kin du ɔpreshɔn pan shunt . Dis kin pul di wata we pasmak na di bren.

Wetin na di prɔblɛm dɛn we Alɛgzanda sik kin gɛt?

Di sayn dɛm fɔ Alɛgzanda sindrom kin wɔs smɔl smɔl as tɛm de go. So, de pɔrsin kin nid tin dɛm lɛk:

• Divays dɛn we de ɛp fɔ waka, lɛk wilchia ɔ waka.
• fכ gεt di rayt it, i kin nid fכ gi di tכb fכ it ( enteral nutrition ).

Wetin na di fiuja (prognosis) fɔ pipul dɛm wae gɛt dis sik?

Fɔ tɔk wetin go apin to pipul dɛn we gɛt Alɛgzanda sik tumara bambay na tin we nɔ izi fɔ du, bikɔs i kin difrɛn frɔm wan pɔsin to ɔda pɔsin . As di sik de go bifo, di sayn dɛm kin wɔs as tɛm de go, mɔ pan pikin dɛm. Di kayn sik ɛn aw fɔ tek di sik kin difrɛn difrɛn wan fɔ di kayn sik:

• Bɔku tɛm, di pikin dɛn we gɛt di kayn we aw dɛn kin bɔn pikin kin gɛt siriɔs disabled, ɛn bɔku pan dɛn kin day bifo dɛn ol tu ia .
• Pikin dɛn we gɛt di kayn bebi kin liv fɔ lɛk fayv to tɛn ia so .
• Pikin dεm we gεt di tכp we dεn kin bigin fכ bכn pikin kin liv sכmtεm te dεn ol 30 כ 40 ia .
• Sɔm pipul dɛm wae gɛt de sik wae kin bigin fɔ bi big pipul kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɔr kin ivin nɔr kin gɛt ɛni sayn. Bɔrku tɛm, de sik nɔr kin afɛkt dɛn layf.

Na nɔmal tin fɔ fil bad we yu yɛri dɛn tin ya. Bɔt if yu no dis infɔmeshɔn, dat go ɛp yu fɔ ɔndastand di sik.

Yu tink se dɛn go ebul fɔ avɔyd Alɛgzanda sik?

Bɔku tɛm, ivin masta sabi pipul dɛn nɔ kin ebul fɔ tɔk klia wan wetin mek di jin chenj we kin mek pɔsin gɛt Alɛgzanda sindrom kin apin. So, bɔrku tɛm, no we nɔr de fɔ protɛkt dis sik.

Bɔt if pɔsin na yu famili gɛt Alɛgzanda sik ɔ ɔda kayn lukodistrofi, i go fayn fɔ mek yu tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dis go ɛp yu fɔ ɔndastand di risk fɔ mek yu pikin dɛn we go kam fɔ gɛt dis sik. Yu kin tink bak bɔt wan tin we dɛn kɔl Preimplantation Genetic Diagnosis (PGD) . dis involv fכ sεlekt hεlty εmbriyo dεm we nכ gεt di GFAP jin mכtεshכn we de mek di sik we dεn kכl Alɛgzanda sik εn implant dεm na di uterus tru in vitro fεtilayzεshכn (IVF) .

Ustɛm a fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt Alɛgzanda sik, go to dɔktɔ wantɛm wantɛm if yu gɛt ɛni wan pan dɛn sayn ya:

• I nɔ izi fɔ balans ɔ fɔ waka.
• I nɔ kin izi fɔ yu fɔ blo, fɔ swɛla, fɔ it, ɔ fɔ tɔk.
• Nɔs ɛn vɔmit.
• Di sik dɛn we kin mek pɔsin sik.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Us kayn Alɛgzanda sik mi (ɔ mi pikin) gɛt?
• Wetin na di bɛst tritmɛnt?
• I fayn fɔ mek dɛn du jenɛtik tɛst fɔ Alɛgzanda sindrom fɔ ɔda pipul dɛn na yu famili?
• Us sayn dɛm fɔ kɔmplikeshɔn a fɔ luk fɔ?

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Alɛgzanda sik na sik we pɔsin kin gɛt fɔ ɔl in layf, ɛn i kin go bifoWan sik we pɔsin kin gɛt we i de mɛn pipul dɛn. Dis nɔ kin apin so ɔltɛm ɛn sɔntɛnde i kin rɔn na famili. di jεnεtik tεst kin no di jεnεtik vεryushכn we de mek dis sik.

Pan ɔl we no mɛrɛsin nɔ de, tritmɛnt dɛn de we go ɛp fɔ mek pɔsin nɔ gɛt di sik ɛn fɔ mek in layf bɛtɛ. Sayɛnsman dɛn de kɔntinyu fɔ du risach fɔ fɛn bɛtɛ tritmɛnt fɔ dis sik we nɔ kin bɔku.

A op se fɔ no dis infɔmeshɔn go ɛp yu fɔ ɔndastand di sik ɛn go to dɔktɔ kwik kwik wan if nid de. Mɛmba ɔltɛm se nɔto yu wangren de, ɛn yu kin gɛt di ɛp we yu nid.

` Alɛgzanda Sik, Nyurolɔjik Sik, Jɛnɛtik Sik, Maylin, Lukodistrofi, Pikin sik