Yu gɛt wan sik we nɔ kin bɔku we kin afɛkt di ‘wayt tin’ na yu bren? Lɛ wi tɔk bɔt Leukodystrophy!

Yu dɔn ɛva yɛri bɔt di wɔd ‘Leukodystrophy’? I kin tan lɛk se i strenj smɔl ɛn i at fɔ kɔl am, nɔto so? Bɔt dis na stori bɔt wan sik we nɔ kin apin so ɔltɛm we kin afɛkt wi nervɔs sistɛm, mɔ di bren ɛn spɛshal kɔd, bɔt i rili impɔtant fɔ mek wi ɔl no bɔt am. Sɔntɛnde wi kin rili wɔri if pɔsin we de nia wi, we na smɔl pikin, gɛt dis sik. So, lɛ wi tɔk bɔt dis jɔs tide, di we we yu go ɔndastand.

Wetin na dis lukodistrofi?

Fɔ tɔk am simpul wan, lukodistrofi na wan grup we nɔ kin gɛt bɔku prɔblɛm dɛn we kin apin na di nyurolɔjik. Di nɛv dɛn na wi bren ɛn spɛshal kɔd (we tan lɛk ilɛktrik waya) gɛt wan tin we de protɛkt dɛn ɛn we de mek wi nɔ gɛt wata we dɛn kɔl maylin . dis maylin de εp di nεv mεsej dεm fכ travul fayn fayn wan εn kwik. Dɔktɔ dɛn kin kɔl dis maylin layt bak di wayt tin.

Tink bɔt am lɛk di plastic sheath we de rawnd ilɛktrik waya. If da sheath de pwɛl, di ilɛktrishɔn nɔ de flɔ fayn, ɛn i kin ivin mek i ‘shɔt’. semweso, we dis protεktiv sεl we dεn kכl maylin dεm dכn pwεl, כ we i nכ fכm fayn, wi nεv sεl dεm nכ kin ebul fכ kכmכnik wit dεn wan dεm fayn fayn wan. Mɛsej dɛn nɔ kin pas fayn fayn wan. Wetin kin apin pan lukodistrofi na dat dis maylin kin kɔntinyu fɔ pwɛl. Dis kin mek di nervɔs sistɛm nɔ de wok fayn smɔl smɔl. Di kɔmyunikeshɔn bitwin di bren ɛn di ɔda pat dɛn na di bɔdi kin brok.

Aw dis sik kin kɔmɔn?

Infakt, lukodistrofi nɔto wan sik we bɔku pipul dɛn kin gɛt. Ɔl kayn lukodistrofi nɔ kin bɔku. Fɔ ɛgzampul, na Amɛrika ɛn Kanada, ɔl kayn lukodistrofi we dɛn put togɛda kin afɛkt bitwin wan pan ɛvri 6,000 ɛn wan pan ɛvri 100,000 pikin dɛn we dɛn bɔn layf layf wan. Insay di kɔntri dɛn na Eshia, dɛn ripɔt se di sik kin smɔl lɛk tri pan ɛvri 100,000 pikin dɛn we dɛn bɔn layf layf wan.

Wetin na di sayn dɛm wae de sho se yu gɛt lukodistrofi?

Dis na di wan we kɔmplikt pas ɔl. Bikɔs di sayn dɛm wae de sho se yu gɛt lukodistrofi kin difrɛn bad bad wan. De sayn dɛm bak kin difrɛn difrɛn wan fɔ di kayn sik. Bɔt pan bɔku kayn lukodistrofi, di we aw di nervɔs sistɛm de wok kin go dɔŋ smɔl smɔl . Dis kin mek yu gɛt difrɛn kayn sayn dɛm. Nɔto ɔlman go gɛt ɔl di sayn dɛm.

Jɛnɛral wan, dɛn tin ya kin afɛkt tin dɛn lɛk:

• Balans we yu de waka: Nɔ ebul fɔ waka fayn, yu kin fɔdɔm ɔltɛm.
• Strɔng: Fɔ fil lɛk se yu an ɛn fut dɛn de go swɛ, i nɔ izi fɔ es ɔ ol tin dɛn.
• Kɔgnishɔn: I nɔ kin izi fɔ lan, mɛmba, ɛn fɔ pe atɛnshɔn.
• Fɔ it ɛn swɛla: I nɔ kin izi fɔ swɛla it, i kin chok bɔku tɛm.
• Fɔ yɛri: I nɔ de yɛri fayn.
• Muvmεnt εn kכdכnayshכn: I nכ ebul fכ kכntrכl di limb dεm fayn fayn wan, i at fכ du di wok dεm כganayz we.
• Tɔk: I nɔ de tɔk fayn, i nɔ ebul fɔ tɔk di wɔd dɛn fayn fayn wan, ɔ i nɔ ebul fɔ tɔk smɔl smɔl.
• Vishɔn: Wi kin wik, sɔm tɛm dɛn kin lɔs yu yay kpatakpata.

Tink bɔt am, if yu na smɔl pikin, yu pikin kin slo pas ɔda pikin dɛn. Dɛn kin slo fɔ lan nyu tin, ple, ɛn tɔk. כl dis kin apin biכs di maylin dכn pwεl, εn di mεsej dεm we de kכmכt na di bren to di bכdi nכ de travul fayn fayn wan.

Bɔku men kayn sik dɛn we dɛn kɔl leukodystrophy

Naw, sɔm pipul dɛn we de stɔdi bɔt dis dɔn no pas 50 kayn sik dɛn we dɛn kɔl leukodystrophy. Ɛn dɛn stil de fɛn nyu kayn dɛn. Ɛni kayn lukodistrofi kin kɔmɔt frɔm difrɛn jɛnɛtik muteshɔn . Dat min se di jin dɛn we de na wi bɔdi chenj. Dɔn bak, ɛni kayn sik gɛt difrɛn sayn dɛn. Di ej wae de sik kin bigin fɔ gɛt dis sik kin difrɛn bak frɔm wan kayn to ɔda kayn.

Lɛ wi luk sɔm ɛgzampul dɛn. Bikɔs i go tek tu lɔng fɔ tɔk bɔt ɔl dɛn kayn dɛn ya, wi go jɔs tɔk bɔt sɔm pan di men wan dɛn.

• Adrenoleukodystrophy (ALD): Dis kin afɛkt di wayt tin na di bren ɛn spɛshal kɔd, ɛn di adrenal gland dɛn we de kɔntrol wi ɔmon dɛn. Bɔrku tɛm, di sayn dɛm kin bigin wae dɛn smɔl ɔr wae pɔrsin dɔn big. Yu kin notis tin dɛm lɛk wae yu nɔr kin ebul fɔ lan, yu kin chenj yu si ɔr yɛri, yu nɔr kin ebul fɔ waka, yu taya, ɛn yu kin lɛf fɔ it bɔku bɔku it.

• Adult-onset autosomal-dominant leukodystrophy (ADLD): Dis kin apin to pipul dɛm we dɔn pas 40 ɔ 50 ia. I kin mek prɔblɛm wit trɛnk, muvmɛnt, ɛn fɔ ɔndastand. I kin afɛkt tin dɛn bak lɛk blɔd prɛshɔn ɛn at rit .

• Alɛgzanda sik: Dis kin mek pikin dɛn nɔ ebul fɔ gro fayn, dɛn kin gɛt sik we dɛn kɔl seiz, ɛn i nɔ kin izi fɔ waka. Bɔku tɛm, i kin afɛkt pikin dɛn we dɛn jɔs bɔn ɔ smɔl pikin dɛn. Bɔt sɔm kayn Alɛgzanda sik de wae kin mek big pipul dɛn gɛt sɔm kayn sik.

• Di sik we dɛn kɔl Kanavan:If na so i bi, di pikin in grow kin delay bak, in bɔdi kin wik, i kin at fɔ swɛla it, i kin gɛt sik we i de fil, di pikin nɔ kin rɛst ɔltɛm, ɛn i kin chenj di we aw i de si. Bɔku tɛm, di sayn dɛn kin apin we i smɔl. Bɔt sɔm kayn sik dɛn de we dɛn kin gɛt we dɛn kin gɛt kanin we kin sho di sayn dɛn leta.

• Krab sik: Dɛn kin kɔl am bak globoid sɛl lukodistrofi . Bɔku tɛm, di sayn dɛn kin bigin we dɛn smɔl. Dɛn tin ya na we pɔsin wik, i nɔ kin izi fɔ gi in mama in bɛlɛ, i nɔ kin rɛst, i nɔ kin ebul fɔ gro fayn, i kin gɛt nyuropathy ( i kin fil lɛk se i nɔ gɛt bɛtɛ trɛnk ɛn i kin swɛt na di bɔdi), ɛn i kin gɛt sik. Sɔmtɛm, di sayn dɛm kin sho leta na layf.

• Metachromatic leukodystrophy: Dis kin apin to bebi, yɔŋ pikin, ɔ ivin big pipul. E kin mek pɔrsin chenj pan aw pɔrsin de tink, aw pɔrsin de biev, aw pɔrsin de si ɔr de yɛri, aw pɔrsin kin gɛt sik wae de mɛk pɔrsin fil fayn, aw pɔrsin kin gɛt dis maynia sik (we nɔr kin mɛmba ɔltɛm), ɛn aw pɔrsin kin blaynd.

Bɔku ɔda kayn dɛn de, lɛk Cerebrotendinous xanthomatosis (CTX) , Childhood ataxia wit sɛntral nervous system hypomyelination (CACH) (dɛn kin kɔl am bak vanishing white matter (VWM) disease ), Pelizaeus-Merzbacher disease (PMD) (we kin mɔs afɛkt bɔy pikin dɛn), ɛn Refsum sik .

Wetin mek di sik we dɛn kɔl leukodystrophy kin apin?

Di men rizin fɔ dis na di chenj we de apin na di jɛnɛtiks. Dat min se di chenj we de apin na di DNA we de na wi bɔdi. dis chenj dεm de apin na di jin dεm we de instכkt fכ fכm dis protεktiv kכva we dεn kכl maylin, כ aw i de wok fayn fayn wan. If dis kɔva we de protɛkt am nɔ de, di nɛv sɛl dɛn nɔ go ebul fɔ wok fayn fayn wan.

Sɔntɛnde, dɛn kin gɛt dɛn jɛnɛtik muteshon ya frɔm mama ɛn papa to dɛn pikin dɛn. Dat min se, dɛn kin pas dɛn to jɛnɛreshɔn dɛn. Bɔt sɔntɛnde dɛn muteshon ya kin apin bak randomly, as di sɛl dɛn de gro ɛn sheb.

Impɔtant tin na dat, sɔm pipul dɛn kin gɛt wan jin muteshɔn we kin mek pɔsin gɛt lukodistrofi bɔt nɔ kin gɛt di sik. Wi de kɔl dɛn pipul dɛn we de kɛr pipul dɛn. Bɔt dɛn wan ya we de kɛr di sik kin pas di muteshon to dɛn pikin dɛn. If yu gɛt wan jin we de mek yu gɛt lukodistrofi, yu kin tink bɔt aw fɔ advays yu jɛnɛtiks . Wan pɔsin we de advays yu bɔt yu jɛnɛtiks go luk yu famili istri ɛn ɛp yu fɔ no if yu gɛt prɔblɛm fɔ pas di muteshon to yu pikin dɛn.

Ɛni risk factor de wae kin afɛkt dis?

Infakt, no patikyula tin nɔ de we kin mek pɔsin nɔ gɛt lukodistrofi. Dis na bikɔs na in jɛnɛtiks. Bɔt dɛn dɔn si se sɔm etnik grup dɛn kin gɛt sɔm kayn sik we dɛn kɔl leukodystrophy smɔl. Bɔrku kayn lukodistrofi kin afɛkt ɔl tu di man ɛn uman ikwal. Bɔt sɔm kayn, lɛk Pelizaeus-Merzbacher disease (PMD) kin mɔna bɔy pikin dɛn.

Aw dɛn kin no se pɔsin gɛt lukodistrofi?

Yu dɔktɔ go aks yu fɔs bɔt yu sik ɛn aks yu bɔt yu pasɔnal ɛn famili wɛl bɔdi istri. Dɔn dɛn go du ɛgzam fɔ dɛn bɔdi ɛn ɛgzam fɔ di nyurolɔjik.

Yu kin du sɔm ɔda tɛst dɛn bak:

• Nyu bɔn pikin dɛn we dɛn kin chɛk fɔ chɛk: Insay sɔm kɔntri dɛn, dɛn kin yuz dɛn tɛst ya fɔ no sɔm kayn lukodistrofi.
• Blɔd ɛn saliva tɛst ( jenɛtik tɛst ): Dɛn tin ya kin no di jɛnɛtik chenj dɛn we de na yu DNA.
• Imej ɛgzam: Fɔ ɛgzampul , dɛn kin du MRI skan fɔ si aw di wayt tin we de na di bren ɛn spɛnal kɔd de.

Pan ɔl dɛn tɛst ya, sɔntɛnde i kin at fɔ no if yu gɛt lukodistrofi bikɔs di sayn dɛm kin difrɛn. Sɔntɛnde, bɔku pan di sik dɛn we dɛn kin gɛt we dɛn kɔl leukodystrophy nɔ kin no se dɛn gɛt am.

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl leukodystrophy?

Dis na di tin we impɔtant pas ɔl we wi ɔl nid fɔ no. Nɔr mɛrɛsin nɔr de fɔ lɛukodystrophy yet. Bɔt dat nɔ min se natin nɔ de we wi go ebul fɔ du. Bɔrku tin de wae wi kin du fɔ kɔntrol de sik, fɔ mek layf izi smɔl, ɛn fɔ kip sɔm pan di wok dɛm wae di nervɔs sistɛm de du.

Dɛn tritmɛnt ya kin bi:

• Mɛrɛsin fɔ mek yu gɛt sik, fɔ mek yu mɔsul dɛn tayt, ɛn fɔ mek yu nɔ ebul fɔ muv.
• Nutritional therapy ɔ di yus fɔ fidin tyub fɔ it ɛn swɛla prɔblɛm.
• Ɔmon tɛrapi fɔ prɔblɛm wit di adrenal gland wok.
• Fizik tɛrapi, ɔkupeshɔn tɛrapi, ɛn tɔk tɛrapi fɔ impɔtant skil dɛm lɛk fɔ waka, balans, ɛn tɔk.

Jin tɛrapi na nyu tritmɛnt opshɔn fɔ sɔm kayn lukodistrofi. I min fɔ put tin dɛn we gɛt jɛnɛtiks insay di sɛl dɛn fɔ chenj di we aw dɛn de mek sɔm prɔtin dɛn.

we yu transplant stεm sεl כ bon mכro transplant i kin bεtεh di simptom dεm fכ sכm kayn lukodistrofi. Bɔt dis tritmɛnt kin wok fayn pan smɔl pipul dɛn nɔmɔ. if dεn no se sεribrotεndinous xanthomatosis (CTX) kwik kwik wan, dεn kin yuz wan tritmεnt we dεn kכl chεnodeoxycholic acid (CDCA) fכ trit am.

Apat frɔm dat, bɔku klinik trial dɛn de we dɛn de du naw fɔ fɛn tritmɛnt fɔ sɔm kayn lukodistrofi. So, if yu ɔ yu pikin gɛt dis sik, yu kin tɔk to yu dɔktɔ fɔ si if dis nyu tritmɛnt we yu go gɛt fayn fɔ yu.

Wetin na di layf we pɔsin kin liv wit lukodistrofi?

Dis na tɔpik we at fɔ tɔk bɔt ɛn we kin mek pɔsin fil bad. Lukodistrofi na wan sik we de go bifo ɛn we kin mek prɔblɛm wit di nervɔs sistɛm as tɛm de go. Bɔku pikin dɛn we gɛt lukodistrofi kin day bifo dɛn big. Bɔt, sɔm pipul dɛn kin liv te dɛn big. Pan ɔl we dɛn sik ya kin kil pipul dɛn bɔku tɛm, nyu tritmɛnt ɛn klinik trial dɛn dɔn mek sɔm op to di wan dɛn we gɛt dis sik.

Di impɔtant tin dɛn we wi nid fɔ mɛmba (Take-Home Message) .

Lukodistrofi na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin gɛt frɔm di nervɔs sistɛm. I de pwɛl di kɔva we de protɛkt am we dɛn kɔl maylin we de rawnd di nɛv dɛn na di bren ɛn di spɛnal kɔd. If yu nɔ gɛt maylin, di nɛv dɛn nɔ kin ebul fɔ tɔk fayn, we kin mek yu gɛt difrɛn difrɛn sayn dɛn.

Pan ɔl we dɛn nɔr dɔn gɛt mɛrɛsin fɔ dis yet, mɛrɛsin ɛn difrɛn tritmɛnt dɛn de fɔ kɔntrol de sik ɛn mek layf izi. Nyu risach dɔn sho se dɛn dɔn ebul fɔ trit dɛn sik ya fayn fayn wan. Mɛmba se yu pikin in mɛdikal tim de wit yu ɔltɛm, ɛn dɛn de kia fɔ yu pikin di bɛst we. I rili impɔtant fɔ mek yu nɔ fred, fɔ go to dɔktɔ kwik ɛn fɔ no di rayt tin.

` Lukodistrofi, maylin, wayt mat, nyurolכjik sik dεm, jεnεtik mכtεshכn, pikin dεm sik dεm, nεv sεstem