Yu dɔn ɛva yɛri bɔt Pelisseus-Merzbacher sik, ɔ PMD fɔ shɔt tɛm? Yu go dɔn notis se yu smɔl pikin nɔ de gro fayn, i nɔ kin izi fɔ waka, ɔ ɔda tin dɛn we nɔ kɔmɔn, ɛn yu kin wɔri. Dis na rili wan sik we nɔ kin apin so ɔltɛm. Dat min se nɔto sɔntin we bɔku pipul dɛn kin gɛt. Bɔt i impɔtant fɔ no bɔt am, mɔ if sɔmbɔdi na yu famili dɔn gɛt dɛn prɔblɛm ya.
Wetin na di sik we dɛn kɔl Pelisseus-Merzbacher (PMD)? Lɛ wi ɔndastand am simpul wan!
Fɔ tɔk am simpul wan, Pelizaeus-Merzbacher Disease (PMD) na wan sik we nɔ kin apin ɔltɛm we bɔku tɛm na jenɛtik , we min se i kin pas frɔm jɛnɛreshɔn to jɛnɛreshɔn, we kin afɛkt yu bren ɛn yu spɛnal kɔd (di men nerve we de rɔn dɔŋ yu spayna). I kin mɔs mek prɔblɛm wit muvmɛnt, lɛk fɔ waka, rɔn, ɛn jomp, ɛn fɔ mek di mɔsul dɛn wok.
Tink bɔt am lɛk di ilɛktrik waya dɛn we de na wi bɔdi. Dɛn waya ya na di say we mɛsej dɛn we de kɔmɔt na wi bren kin travul ɔlsay na wi bɔdi. insay PMD, di protεktiv kכva we de rawnd dεn nεv dεm we dεn k כl maylin nכ de divεlכp inof. Maylin tan lɛk di plastic sheath we de pan ilɛktrik waya. Na wetin de alaw di nerve messages fɔ travul kwik ɛn kɔrɛkt wan. So we dis maylin sheath dכn rεdכks, prכblεm de fכ di transmishכn fכ di nεv mεsej dεm.
Sɔm pipul dɛm wae gɛt PMD kin gɛt bak divɛlɔpmɛnt delay, we min se dɛn kin let fɔ lan, tɔk, ɔr waka, as i fayn fɔ dɛn ej. PMD na sik we de go bifo . Dis min se de sik kin wɔs as tɛm de go.
Aw dis sik kin afɛkt wi bɔdi? (Wetin na lukodistrofi?)
PMD na wan sik we de mek pɔsin gɛt jɛnɛtiks we de pan wan grup we gɛt sik dɛn we dɛn kɔl leukodystrophies . Dɛn sik ya kin afɛkt di wayt tin na wi nervɔs sistɛm. dis wayt tin na di say we di nεv fayb dεm we dεn kכt wit maylin de. So insay PMD, wi bכdi nכ de mek inof maylin, we de pwεl dis wayt mat. dis na di rizin we mek di mεsej dεm we de kכmכt na di bren to di rεst כf di bכdi nכ de travul fayn fayn wan.
Imajin, if pɔsin we de kɛr mɛsej nɔ fala di rayt rod, di mɛsej kin stɔp na di rod, ɔ go na di rɔng ples, nɔto so? Na dat kin apin to wi nervɔs sistɛm we di maylin dɔn lɔs.
Udat kin gɛt PMD mɔ?
PMD kin afɛkt bɔy pikin ɛn man dɛn mɔ . Dis na bikɔs na wan sik we dɛn kɔl X-linked genetic disorder . dis min se di mכtεshכn we de mek dis sik de pan di X kromozom. as yu no, uman gεt tu X kromozom, we man gεt wan X kromozom εn wan Y kromozom.
So, ivin if uman gεt dis jεnεtik mכtεshכn pan wan X kromozom, di simptom dεm nכ kin bכku so biכs fכ di כda hεlty X kromozom. Sɔntɛm dis sik nɔ kin kam atɔl. Bɔt if man gɛt dis muteshon na in wangren X kromozom, di risk fɔ gɛt di sik kin bɔku.
Wetin na di men kayn sik we dɛn kɔl Pelissaeus-Merzbacher?
Tu men kayn sik de we dɛn kɔl Pelisseus-Merzbacher:
1. Klasik Pelizaeus-Merzbacher sik
Dis na di kayn we we dɛn kin yuz mɔ . Bɔrku tɛm, di sayn dɛm kin bigin insay di fɔs ia na di pikin in layf . Klasik PMD kin mεntal kכz prכblεm wit mכsul dεm εn muvmεnt. Fɔ ɛgzampul, di pikin kin swɛla, i kin slo fɔ waka, ɔ i nɔ kin izi fɔ mek i balans.
Di intɛlektual abiliti dɛm fɔ pipul dɛm we gɛt dis klas PMD, dat na di abiliti fɔ lan ɛn mɛmba, kin divɛlɔp fayn fayn wan te dɛn yɔŋ. Bɔt afta dat, da divɛlɔpmɛnt de kin stɔp. Afta we pɔsin dɔn yɔŋ, di tin dɛn we pɔsin kin ebul fɔ tink bɔt kin go dɔŋ smɔl smɔl.
2. Di sik we dɛn kɔl Connatal Pelizaeus-Merzbacher sik
Dis kayn tin nɔ kin apin so ɔltɛm ɛn i kin rili bad . pan dis kayn sik, di sayn dεm lεk we yu de muv bad bad wan, we yu de gεt rεtard, we i de fכ it, εn we i de sכk kin apia we i bεlε, insay fכ mכnt afta dεn bכn am.
Pikin dɛn we gɛt PMD we dɛn bɔn wit nɔ kin ɛva lan fɔ waka . Dɔn bak, i nɔ kin izi fɔ bɔku pan dɛn fɔ tɔk. Bɔt, dɛn ebul fɔ ɔndastand wetin ɔda pipul dɛn de tɔk. Dis na tin we rili bad.
Aw kɔmɔn dis sik we dɛn kɔl PMD?
As wi bin dɔn tɔk, di sik we dɛn kɔl Pelizaeus-Merzbacher na sik we nɔ kin bɔku . Masta sabi bukman dɛn na kɔntri lɛk Amɛrika se na lɛk wan pan ɛvri 200,000 man dɛn kin gɛt dis sik. Dis kin ivin smɔl pan uman dɛn. Pan ɔl we i nɔ izi fɔ fɛn kɔrɛkt statystik bɔt dis na Sri Lanka, dɛn kin tek am se na sik we nɔ kin apin so ɔltɛm na di wɔl.
Wetin na di sayn dɛm fɔ PMD?
De sayn dɛm fɔ Pelisseus-Merzbacher sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, bɔt sɔm kɔmɔn sayn dɛm de:
- Prɔblɛm fɔ balans: Nɔ ebul fɔ balans fayn we yu de waka ɔ tinap.
- Divεlכpmεnt delay: Delay fכ tכk, waka, εn ple akɔdin to di ej.
- Prɔblɛm fɔ it: I nɔ kin izi fɔ sok ɔ swɛla it. Dis kin mek bak yu nɔ gɛt bɔku bɔku bɔdi.
- Stridor: Na abnɔmal lawd sawnd we yu de blo.
- di yay dεm we yu nכ de muv (nystagmus): Na di muvmεnt we di yay dεm de muv kwik kwik wan, we de kכntinyu, we dεn nכ de kכntro bak εn go bifo כ כp εn dכn.
- di bכdi de shek כ jכk we yu nכ want (dystonia): di mכsul dεm we nכ de kכntrכl כ di bכdi pat dεm de jכk.
- Poor weight gain: Nɔr de gɛt weit di rayt we fɔ di ej.
- di mכsul dεm we de wik (hypotonia): Na fכ fil fכ wik, di mכsul dεm nכ de tכn.
If yu pikin gɛt wan ɔ mɔ pan dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm .
Wetin kin mek pɔsin gɛt PMD?
Pelisseus-Merzbacher sik kin kכz am bכku tεm bay wan mכtεshכn na di PLP1 jin . Dis mכtεshכn kin kכmכt frכm wan כ כl tu di mama εn papa.
כltu, insay lεk 20% pan di bכy pikin dεm we gεt PMD, dεn nכ fכnshכn di PLP1 jin mכtεshכn. sכm pan dεm kin gεt mכtεshכn na di GJC2 jin . Ɔda pipul dɛn kin gɛt PMD fɔ no rizin. Dis na di kɔmplisiti dɛm fɔ mɛrɛsin.
Aw dɛn kin no se pɔsin gɛt PMD?
Yu pikin in dɔktɔ kin sɔprayz se PMD de bikɔs ɔf di sayn dɛm we dɛn gɛt. Dɛn kin ɔda fɔ du sɔm tɛst fɔ no if dɛn tink se dɛn gɛt am:
- Imej tɛst: Pan dɛn tɛst ya, MRI skan na di impɔtant wan. dis kin yus fכ si if di maylin nכ de na di pikin in bren εn in spεnal kכd. I tan lɛk se yu de tek foto.
- Jɛnɛtik tɛst: Dɛn tɛst ya we dɛn kin du fɔ tek blɔd sɛmpul, kin no if di jɛnɛtik chenj we kin mek pɔsin gɛt PMD de. Dis na di onli we fɔ definitivli kɔnfɔm di sik.
Wetin na di tritmɛnt dɛm fɔ PMD?
Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de yet fɔ di sik we dɛn kɔl Pelisseau-Merzbacher . Bɔt, dat nɔ min se natin nɔ de we wi go ebul fɔ du. Di men gol fɔ tritmɛnt na fɔ mek di pɔsin in layf bɛtɛ ɛn fɔ kɔntrol di sik dɛn .
Bɔku tritmɛnt dɛn de we dɛn kin yuz fɔ dis:
- Mɛrɛsin: Dɛn kin gi mɛrɛsin fɔ ridyus di mɔsul dɛn we de spam ɛn fɔ mek yu nɔ gɛt sik.
- Fizik tritmɛnt ɔ ɔkupeshɔn tɛrapi: Dɛn tin ya kin ɛp fɔ mek pikin balans, trɛnk, ɛn kɔntrol in motoka fayn fayn wan. Speshali, dɛn kin tren dɛn fɔ waka, ple, ɛn du tin dɛn fɔ dɛnsɛf.
- Tritmɛnt fɔ di yay: Dɛn kin trit di ay muvmɛnt we wi nɔ want (nystagmus) we wi bin dɔn tɔk bɔt wit glas ɔ, sɔm tɛm dɛn, dɛn kin yuz ɔpreshɔn.
- Kɔnsul: Laysens Mental Ɛlth KɔnsɛlI rili impɔtant fɔ gɛt advays frɔm dɔktɔ. Dis advays go ɛp yu fɔ bia wit de strɛs ɛn wɔri wae de kam wit yu jɛnɛtik sik lɛk dis, ɛn ɛp yu bak fɔ bia wit am fayn fayn wan. Dis rili impɔtant fɔ di pikin ɛn di mama ɛn papa.
Wetin na di prɔgnosis fɔ PMD?
Di prɔgnosis fɔ PMD, dat na aw fa di sik go afɛkt yu ɛn aw lɔng yu go liv, dipen pan aw yu sik dɛn go tranga . Pipul wae gɛt dis sik kin gɛt dis sik pasmak ɛn dɛn kin liv shɔt layf.
Bɔt sɔm pipul dɛn nɔ kin gɛt dis kayn bad bad sik. Dɛn kin liv nɔrmal layf ɛn nɔr kin gɛt bɛtɛ impak pan di tin dɛm wae dɛn kin du ɛvride. Yu dɔktɔ ɔr nɔs kin ɛp yu fɔ ɔndastand aw PMD kin afɛkt yu ɔ yu pikin. Nɔ ɛva giv ɔp op.
Wan we de fɔ mek yu nɔ gɛt PMD?
Bɔt i sɔri fɔ no se, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Pelisseus-Merzbacher bikɔs na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks.
Bɔt if yu gɛt PMD, ɔ if yu tink se yu kin gɛt dis sik (dat na if pɔsin na yu famili gɛt dis sik), yu kin tink bɔt fɔ tɛst yu jɛnɛtiks .
jεnεtik tεst kin no if yu gεt di jin mכtεshכn we de mek PMD. Yu kin tɔk to pɔrsin wae de kɔl yu jenɛtiks fɔ ɔndastand di tɛst rizɔlt ɛn no wetin de pan yu risk fɔ mek yu pikin dɛn gɛt dis sik. Dis kin rili ɛp fɔ plan fɔ tumara bambay.
Kwɛstyɔn dɛn we yu fɔ aks yu dɔktɔ
If yu ɔ yu pikin gɛt di sik we dɛn kɔl Pelisseus-Merzbacher, ɔ if yu tink se i gɛt am, yu kin aks yu dɔktɔ dɛn kwɛstyɔn ya:
- Wetin na di tin we kin mek mi pikin/mi gɛt Pelisseus-Merzbacher sik?
- Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt di sik we dɛn kɔl Pelisseus-Merzbacher?
- Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Pelissaeus-Merzbacher? Us tritmɛnt bɛtɛ fɔ mi pikin/mi?
- Wetin na di chans fɔ mek mi pikin dɛn gɛt di sik we dɛn kɔl Pelisseus-Merzbacher frɔm mi?
Apat frɔm dɛn kwɛstyɔn ya, tɔk to yu dɔktɔ bɔt ɛnitin we yu de tink, ɛni fred ɔ dawt we yu gɛt. Nɔ kip ɛnitin we dɛn dɔn bɔtul na yu maynd.
Fɔ dɔn, di tin we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .
Na nɔmal tin fɔ fil shɔk ɛn sɔri we yu kam fɔ no se yu pikin gɛt Peliseus-Merzbacher sik. I kin apin to ɔlman. Mɛmba se nɔto yu wangren de .
Di tritmɛnt fɔ PMD kin difrɛn difrɛn wan bay di kayn sik ɛn aw i siriɔs. Sɔm pipul dɛm wae gɛt PMD nɔr kin gɛt sɔm kayn sik, so dɛn nɔr kin afɛkt di tin dɛm wae dɛn kin ebul fɔ du ɔr dɛn layf.
Wok wit yu dɔktɔ fɔ mek wan tritmɛnt plan we go wok fɔ yu ɛn yu famili.If yu gɛt di rayt infɔmeshɔn, sɔpɔt, ɛn lɔv, yu go ebul fɔ bia wit dis prɔblɛm. Tray ɔltɛm fɔ tink gud wan.
👩🏽 ⚕️ Ɔda kwɛstyɔn dɛn (FAQ dɛn)
💬 Wetin na Ectopic Pregnancy?
nכmal wan, fכ mek di pikin (fεtilayz eg) gro, i fכ implant insay di ‘uterus’. כltu, insay εktopik, di eg nכ de rich di uterus, bכt insted i de stכk insay di ‘fallopian tube’ (כ ovary) εn i de gro de. Dis na tin we kin mek pɔsin day bad bad wan!
💬 Aw di pikin we de divεlכp insay di tכb go put di mama in layf pan denja?
di Falopian tyub nכ kin ebul fכ εkspכn to di sayz we i nid fכ sכpכt pikin. כva di kכs fכ sכm de dεm, di uterus de big, εn di tכb de rכp (tubal rupture). Dis kin mek bɔku bɔku blɔd kɔmɔt insay di bɔdi, ɛn di mama kin day insay sɔm minit.
💬 Aw yu kin fɛn bɛlɛ lɛk dis? Yu nɔ go ebul fɔ sev di pikin?
pan dis kayn bεlε, di mama fכs kin fil pen we i nכ kin bia, tayt na in bכdi, spεshal wan na wan say, εn spat. כnכfכs, bεlε we de divεlכp insay di tכb dis we dεn nכ kin nεva sev (sayntis nכ kin sev). So, dɛn fɔ pul di bɛlɛ wantɛm wantɛm, ilɛksɛf na ɔpreshɔn ɔ mɛrɛsin (Methotrexate), fɔ sev di mama in layf.
` Pelisseus-Merzbacher sik, PMD, jεnεtik sik dεm, maylin, nεv sεstem, pikin dεm, divεlכpmεnt dilay
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