I at fɔ tɔk bɔt di sɔri ɛn wɔri we mama ɔ papa kin fil we dɛn smɔl pikin sik, nɔto so? Ɛspɛshali we na wan sik we nɔ kin apin so ɔltɛm ɛn we kin tan lɛk se i kɔmplikt, di lod kin ivin big. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we impɔtant. Dɛn kɔl dis Krabbe Disease. Sɔm pipul dɛn kin kɔl am bak Globoid Cell Leukodystrophy. Pan ɔl we i go tan lɛk se di nem lɔng smɔl, lɛ wi kip am simpul.
Wetin na Krabbe Disease?
Fɔ tɔk am simpul wan, Krabbe sik na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di nervɔs sistɛm. Dɛn kin kɔl am "kra-bah."
Dis sik de pan wan grup fɔ sik dɛn we dɛn kɔl Leukodystrophies. pan dεn sik ya , di kכva we de protεkt we dεn kכl Myelin na wi nεv sεstem de lכs (dεn kכl dis Demyelination). Tink bɔt di nɛv sɛl dɛn na wi bɔdi lɛk ilɛktrik waya. Wan tin de we de kɔba dɛn waya dɛn ya we de protɛkt dɛn, lɛk plastic sheath we de ɔp di waya. Na dat dɛn kɔl Maylin. dis maylin sheath na in de alaw di nεv mεsej fכ travul kwik εn kכrekt wan. Insay Krabbe sik, dis maylin sheath kin pwɛl.
כlso, insay dis sik, dεn kin si wan abnכmal kayn sεl na di bren we dεn kכl globoid sεl dεm. dis na big sεl dεm we kin gεt pas wan nyuklios.
As di maylin sheath de pwɛl, di bren sɛl dɛn kin bigin fɔ day. Dis kin mek smɔl smɔl prɔblɛm dɛn we kin mek di nervɔs sistɛm nɔ wok fayn. Fɔ ɛgzampul:
- Intɛlektual Disabiliti
- Paralayz we pɔsin kin gɛt
- I nɔ de yɛri fayn ɔ i de dɛf
Krabbe sik na wan sik wae de mek pɔrsin nɔr de fil fayn ɛn i kin wɔs smɔl smɔl as tɛm de go. Di tin we sɔri na dat, bɔku tɛm i kin dɔn wit day.
Dɛn gi di sik in nem to Knud Krabbe, we na wan Danish nyurolɔjis.
Udat dɛn kin gɛt di sik we dɛn kɔl Krabbe pas ɔlman?
Na lɛk 90% pan di pipul dɛm wae gɛt Krabbe sik kin bigin fɔ gɛt dis sik bitwin 1 ɛn 7 mɔnt. Dɛn kɔl dis di infantile form of Krabbe disease. Sɔmtɛm, dis sik kin bigin afta i dɔn ol 18 mɔnt, we i dɔn yɔŋ ɔ we i dɔn big. Dɛn kɔl dis di let-onset fɔm fɔ Krabbe sik.
Di tin we impɔtant pas ɔl na dat Krabbe sik na sik we dɛn kin gɛt frɔm mama ɛn papa to pikin dɛn tru di jin.
Aw dis sik kin bɔku?
Krabbe sik na jɛnɛral wan sik wae nɔr kin bɔrku. Bɔt di frɛkuɛns we i kin apin kin difrɛn na difrɛn say dɛn na di wɔl. Di wan dɛn we de stɔdi bɔt dis sik se dis sik kin apin to lɛk wan pan ɛvri 100,000 pikin dɛn we dɛn bɔn layf layf wan na Yurop ɛn wan pan ɛvri 250,000 pikin dɛn we dɛn bɔn layf layf wan na Amɛrika.
Bɔt dis sik kin bɔku na sɔm say dɛn we de fa fawe na Izrɛl, ɛn i kin gɛt lɛk 6 pan ɛvri 1,000 pipul dɛn.
Wetin na di sayn dɛm fɔ Krabbe sik?
Di kayn we aw di Krabbe sik kin tranga kin dipen pan di ej wae di sik kin bigin. di fכm fכ Krabbe sik we pikin kin bכn kin wכs kwik kwik wan εn i kin kil am bifo i rich 2 ia. Di kayn we aw Krabbe sik kin bigin let nɔr kin pasmak, ɛn di layf we pɔsin kin liv kin lɔng.
Simptom dɛm fɔ Infantile Krabbe Disease
di sayn dεm fכ Krabbe sik we dεn bכn pikin dεn kin no insay tri men stej dεm:
Stej 1: 1.
di pikin we gεt Krab sik kin gro εn divεlכp fayn fayn wan te dεn ol 4 to 6 mכnt. Na da tɛm de di sayn dɛn kin bigin. Dɛn tin ya na:
- Nɔr kin rɛst ɔltɛm, yu kin vɛks
- Fɔ vɔmit
- I nɔ izi fɔ drink milk
- Fɔ Fail fɔ Gɛt Trive
- Fiva ɔltɛm we nɔ gɛt ɛni sayn fɔ se yu gɛt di sik
- Di mɔsul dɛn we wik
Bebi we gɛt Krabbe in sik kin fil bad fɔ tɔch, sawnd, ɛn layt. we dis kayn stimulus kam, di bכdi kin gεt stiffening sensation (Tonic Spasms). Imajin, pikin go sɔprayz ɛn stif we i yɛri smɔl sawnd.
Stej 2: .
Na di sɛkɔn stej, yu kin si sɔm sayn dɛm lɛk:
- Vishɔn kin chenj
- Optik Atrofi - Dis min se di optik nεv de wik.
- Abnכmal Posishכn - we di mכsul dεm na di nεk, di trכnk, εn di leg dεm tayt, i kin mek yu posishכn we de bεnd bak frכm di nεk to di il (Opisthotonic Posturing). I tan lɛk se yu de bɛn bak lɛk bɔw.
- Kɔndishɔn dɛn we tan lɛk se yu de sik
- Slowing of mental ɛn fyzikal divɛlɔpmɛnt
- Di nɔ ebul fɔ du tin dɛn we yu bin dɔn lan bifo tɛm (e.g., fɔ smayl, fɔ ol yu ed ay) bak.
Stej 3: .
Insay di tɔd stej, dɛn kin si dɛn sayn ya:
- I nɔ de si fayn igen (blayndnɛs) .
- I nɔ de yɛri fayn fayn wan (def) .
- wan abnכmal bכdi posishכn - na poshכn we di an dεm εn di lεg dεm de strεt, di finga dεm de pכynt dכn, εn di ed εn nεk de pul bak (decerebrate posturing) .
- Di abiliti fɔ muv rawnd we i nɔ de ebul fɔ muv.
We yu rid dɛn tin ya, dat kin mek yu fil bad ɛn fred. Bɔt fɔ no dɛn tin ya rili impɔtant fɔ no di sik kwik kwik wan ɛn fɔ gɛt di ɛp we yu nid.
Di sayn dɛm fɔ Krab Sik we kin bigin leta
Leta Infantile Krabbe Disease kin bigin bitwin di ej dɛm fɔ 13 ɛn 36 mɔnt. De sayn dεm de sho sכmtεm lεk dis:
- Di we aw pɔsin kin vɛks
- Vishɔn kin chenj
- Di we aw pɔsin de waka we nɔmal
- Di sik dɛn we kin mek pɔsin sik
- Di Episod dɛn we de mek pɔsin nɔ ebul fɔ waka
- Di bɔdi in tɛmpracha nɔ de stebul
Insay dis kes, di avrej ej fɔ day na lɛk siks ia.
Di sayn dɛm fɔ di Juvenile-Onset Krabbe Disease na:
- Vishɔn kin chenj
- Di we aw pɔsin kin shek shek
- Di we aw yu de waka we nɔmal fɔ waka
- we yu nɔ ebul fɔ kɔntrol di muvmɛnt dɛn lɛk aw yu want ɛn di mɔsul dɛn we de stif smɔl smɔl
- Atɛnshɔn-Dɛfisit/Haypa Aktiviti Disɔda (ADHD) .
Di rεt wae dis kayn Krabbe sik kin wɔs kin difrɛn, bɔt bɔrku tɛm kin day insay 10 ia afta dɛn dɔn no bɔt am.
Di sayn dɛm fɔ Krabbe sik we kin bigin leta :
- Bɔn na di an ɛn fut
- Di chenj dɛn we de apin na di we aw pɔsin de fil ɛn di we aw i de biev
- Staggering wen yu de waka, loss of balans `(Ataxia)`
- Di mɔsul dɛn we de stif (Spasticity) .
- Vishɔn kin chenj ɛn blaynd
- Kɔnvulshɔn we pɔsin kin gɛt
- I nɔ kin yɛri fayn ɛn i kin dɛf
Bɔrku pipul dɛm wae gɛt Krabbe sik wae dɛn big kin wik na dɛn maynd ɛn bɔdi.
Wetin kin mek pɔsin gɛt Krabbe sik?
Krabbe sik na sik wae de pas frɔm mama ɛn papa to pikin dɛm tru wan jin. i de inhεrit insay wan כtosom rεsεsiv patεn. dis min se di tu kכpi dεm fכ di jin insay εvri wan pan di pikin in sεl dεm fכ gεt mכtεshכn. Pɔsin we gɛt dis sik gɛt wan kɔpi fɔ di jin we dɔn chenj na ɛni wan pan in mama ɛn papa. Bɔt bɔku tɛm, di mama ɛn papa nɔ kin sho di sayn dɛn. Dɛn na jɔs pipul dɛn we de kɛr di sik.
Krabbe sik de kכz bay mכtεshכn dεm na di jin `GALC`. dis kin mek di bכdi nכ de prodyuz wan εnzym we dεn kכl `Galactocerebrosidase`. dis εnzym implεnt fכ wi bכdi fכ mεtabolayz wan kכmpawnd we dεn kכl `Galactocerebroside`. dis galaktoserebrosayd na imכtant pat pan di maylin (di protεktiv kכva we de rawnd di nεv dεm).
we dis imכtant εnzym dכn lכs, di maylin sεt we de כlsay na di sεntri nεv sεstem de brok dכn (demyelination). Dis na wetin kin mek yu gɛt di nyurolɔjik simptom dɛm fɔ Krabbe sik.
Aw dɛn kin no se pɔsin gɛt Krabbe sik?
Insay sɔm stet dɛn na Amɛrika, dɛn kin put wan tɛst fɔ Krabbe sik insay di rutin fɔ chɛk nyu bɔbɔ dɛn. Dis na blɔd tɛst.
Wan ɔda impɔtant we fɔ no if yu gɛt Krabbe sik na bay we yu de du imej tɛst. Na mɔ, wan MRI (Magnetic Resonance Imaging) skan kin no di chenj dɛn we de apin na pikin in bren we de sho se Krabbe sik. MRI rili yusful fɔ no di bren lɛsin dɛn na Krabbe sik. Dɛn tɛst ya kin ɛp bak fɔ no di sik we i smɔl ɛn we i big.
If dɛn no se yu pikin gɛt Krabbe sik, chɛk aw i nɔ de yɛri ɛn si fayn.I go mɔs bi se dɛn go nid fɔ du Asɛsmɛnt fɔ Yɛri ɛn fɔ Ɛgzamin Ay. Dis go ɛp fɔ no us kayn Ɛp fɔ Yɛri ɛn Ɛp fɔ Si yu pikin go nid.
If dɛn no se yu pikin gɛt Krabbe sik, yu dɔktɔ go se yu ɛn yu patna fɔ gɛt kɔyl ɛn tɛst fɔ yu ɛn yu patna fɔ no if yu gɛt ɔda pikin. Dɛn kin se bak fɔ mek dɛn tɛst ɔda pipul dɛn na di famili fɔ si if dɛn gɛt di jin we nɔ fayn.
Wetin na di tritmɛnt fɔ Krabbe sik?
Bɔt i sɔri fɔ no se, dɛn stil nɔ gɛt ɛni mɛrɛsin fɔ Krabbe in sik we go de sote go. Ɛn, bɔku tɛm i kin dɔn wit day.
Bɔt wan tritmɛnt de we kin kɔntrol aw Krab sik de wɔs: na ɛmatopoiɛtik stem sɛl transplant (HSCT).
stεm sεl transplant de riples di sεl dεm we nכ hεlth na di bכdi wit hεlty sεl dεm. εmatopoiεtik stεm sεl dεm na sεl dεm we nכ machכ we kin divεlכp to כl kayn bכdi sεl dεm, inklud wayt blכd sεl dεm, rεd blכd sεl dεm, εn pletlεt dεm.
Insay HSCT, dɛn kin transplant blɔd stem sɛl dɛn frɔm pɔsin we gɛt wɛlbɔdi to pikin we gɛt Krabbe sik. dis de εp fכ gi di pikin hεlty sεl dεm εn gud GALC εnzym fכ wok na di bren. Bɔt HSCT kin wok fayn pas ɔl we dɛn gi am bifo di sayn dɛn sho.
Risach pipul dɛn de kɔntinyu fɔ tray fɔ fɛn bɛtɛ tritmɛnt fɔ Krabbe sik. Bikɔs naw, no mɛrɛsin nɔ de fɔ mɛn am ɛn di sik kin wɔs as tɛm de go, di men tritmɛnt na fɔ sɔpɔt pɔsin . Dis kin inklud:
- Muscle Relaxants fɔ mek di mɔsul dɛn gɛt tɛnsiɔn
- Antikɔnvulsant Mɛdikeshɔn fɔ Kɔntrol di Siz
- Fizik Tɛrapi fɔ Inkris Mobiliti
- Ɔkupeshɔn Tɛrapi fɔ Ol Pikin ɛn Big Pikin dɛn
- If i nɔ izi fɔ swɛla, yu fɔ gi yu tiub
Wetin na di prɔgnosis fɔ Krabbe sik?
Di prɔgnosis fɔ Krabbe sik nɔ fayn. Bɔku tɛm, i kin dɔn wit day. Bɔt di tɛm we pɔsin kin liv kin difrɛn difrɛn wan bay di ej we di sik bigin.
Di avrej layf we pikin dɛn we gɛt Krabbe sik kin liv we dɛn smɔl na lɛk 13 mɔnt. Bɔrku pikin dɛm wae gɛt dis sik kin day insay tu ia afta di sik bigin.
Di rεt wae de progrεs εn layf span fɔ Krabbe sik, wae kin bigin wae i smɔl ɛn big, kin difrɛn.
Day frɔm Krabbe sik kin apin bikɔs ɔf di respiratory failure we kin mek di mɔsul wik ɔ infεkshɔn we kin kam bikɔs it/likwid kin go insay di lכng (aspiration).
Yu tink se dɛn kin ebul fɔ avɔyd Krabbe sik?
Bikɔs Krabbe sik na sik we wi kin gɛt frɔm wi mama ɛn papa, natin nɔ de we wi go du fɔ mek i nɔ gɛt am.
Bɔt if yu de wɔri bɔt di risk fɔ gɛt Krabbe sik ɔ ɔda sik dɛn we yu gɛt frɔm yu jɛnɛtiks bifo yu tray fɔ bɔn pikin, tɔk to pɔsin we de kia fɔ yu wɛlbɔdi biznɛs bɔt aw fɔ advays yu bɔt yu jɛnɛtiks.
Ustɛm mi pikin we gɛt Krabbe sik fɔ go to dɔktɔ?
Yu pikin go nid fɔ si dɛn wɛlbɔdi tim ɔltɛm fɔ wach dɛn sik, wach aw dɛn de go bifo, ɛn ajɔst dɛn sɔpɔt kia plan as nid de. If yu pikin gɛt ɛni nyu sayn, mek yu dɔktɔ no wantɛm wantɛm.
Krabbe sik na wan sik wae nɔr kin bɔrku, wae kin kam wit nyurolɔjik disɔda. E kin bi shok ɛn lod fɔ no se yu pikin gɛt Krabbe sik. Bɔt mɛmba se nɔto yu wangren de. Risos de fɔ ɛp ɛn tich yu ɛn yu famili bɔt dis. Fɔ gɛt mɛdikal tim we no bɔt dis sik rili impɔtant fɔ gi yu pikin di bɛst kia.
Sɔma (Mɛsej we dɛn kin tek go na os) .
Na sɔm simpul tin dɛm fɔ mɛmba bɔt Krabbe Disease:
- Krabbe sik na wan sik wae nɔr kin bɔrku pan jɛnɛtiks wae kin pwɛl di nervɔs sistɛm.
- dis de pwεl di kכva we de protεkt we dεn kכl maylin we de rawnd di nεv sεl dεm.
- di kayn we aw di sik kin tranga ɛn aw i kin liv kin difrɛn difrɛn wan bay di ej we di sik bigin (bebi pikin, pikin, big pipul). I kin rili bad we dɛn smɔl.
- Naw, no mɛrɛsin nɔ de fɔ mɛn am, bɔt tritmɛnt dɛn de we de sɔpɔt am fɔ kɔntrol di sik dɛn ɛn fɔ mek yu layf bɛtɛ. HSCT (hematopoietic stem cell transplant) bifo di simptom dεm sho kin kכntro sכmtεm aw di sik de wכs.
- Dis na sik we pɔsin kin gɛt we i kam pan in jɛnɛtiks ɛn i nɔ go ebul fɔ avɔyd am. Bɔt, fɔ advays yu bɔt yu jɛnɛtiks kin ɛp yu fɔ no bɔt di prɔblɛm we yu gɛt.
- If yu pikin gɛt dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm.
A op se dis infɔmeshɔn go ɛp yu. Mɛmba se i go fayn fɔ mek yu go to di rayt dɔktɔ fɔ ɛni wɛlbɔdi prɔblɛm.
` Krabbe in sik, Globoid Cell Leukodystrophy, Myelin, Demyelination, Jɛnɛtik sik, Nyurolɔjik sik, Pikin sik
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