Yu kin gɛt blɔd yay frɔm ivin di smɔl smɔl tin dɛn? Ɔ yu kin fil taya ilɛksɛf yu slip? Yu kin strɛs wit tin dɛn lɛk bon pen ɛn bɛlɛ we swel? Sɔntɛm wan sik de biɛn dɛn tin ya we wi nɔ yɛri bɔku bɔt, bɔt i rili impɔtant fɔ no. Tide wi de tɔk bɔt wan pan dɛn kayn sik ya we nɔ bɔku bɔt we pɔsin kin mɛn. Dat na Gaucher Disease .
Fɔ tɔk am simpul wan, wetin na Gaucher sik?
Gaucher sik na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks. Fɔ tɔk di kɔrɛkt tin, i de pan wan grup we gɛt sik dɛn we dɛn kɔl lysosomal storage disorders (LSD) . Okay, di nem soun likli komplikayt, no bi so? Nɔ wɔri, a go ɛksplen am simpul wan.
Imajin se insay di sεl dεm na wi bכdi sכm sכm ‘doti bכt dεm' de we dεn kכl laysosom. Dɛn wok na fɔ brok ɛn klin di tin dɛn we dɛn nɔ want, lɛk fat, we kin gɛda insay di sɛl dɛn. Insay Gaucher sik, di bɔdi nɔ de mek wan ɛnzaym we de brok wan spɛshal kayn fat we dɛn kɔl sphingolipids . Dɔn dɛn fat dɛn de we wi nɔ want kin bigin fɔ gɛda na say dɛn lɛk wi bon mɛro, liva, ɛn splin.
We di fat bɔku dis we, wi bon dɛn kin wik, ɛn di ɔgan dɛn lɛk di liva ɛn di splin kin swel ɛn big. Dɛn ɔgan dɛn ya nɔ kin ebul fɔ du dɛn wok fayn igen. Pan ɔl we dɛn nɔ go ebul fɔ mɛn Gaucher sik kpatakpata, tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sayn dɛm ɛn alaw yu fɔ liv gud kwaliti layf.
Tri men kayn Gaucher sik de:
Gaucher sik nɔto ɔltin di sem. Wi dɔn no tri men kayn we dɛn de. Ɔl di tri kayn dɛn kin afɛkt di bon dɛn ɛn di ɔgan dɛn. Bɔt sɔm kayn dɛn kin afɛkt di bren bak. Lɛ wi tek wan luk pan wetin na dɛn kayn tin ya.
| Di kayn sik we pɔsin kin gɛt | Ifɛkt ɛn di kwaliti dɛn we i gɛt | Impɔtant pɔynt dɛn |
|---|---|---|
| Gaucher tayp 1 (Tayp 1) . | Dis na di kayn we we pipul dɛn kin gɛt mɔ. I kin afɛkt di splin, di liva, di blɔd, ɛn di bon dɛn. I nɔ de afɛkt di bren ɔ di nervɔs sistɛm. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak. Ɔda pipul dɛn kin taya bad bad wan, dɛn bon dɛn kin pen, ɛn dɛn bɛlɛ kin at. | Di sayn dɛm kin sho pan ɛni ej, frɔm we i smɔl te i ol. Dɛn kin kɔntrol di tritmɛnt fayn fayn wan. |
| Gaucher tayp 2 (Tayp 2) . | Dis na wan kayn we we nɔ kin apin so ɔltɛm ɛn we kin rili bad. I kin apin to pikin dɛn we nɔ rich 6 mɔnt yet. I kin mek di splin big, i nɔ kin izi fɔ muv, ɛn di bren kin pwɛl bad bad wan . | Naw, no mɛrɛsin nɔ de fɔ dis sik. Bɔku tɛm, pikin dɛn we gɛt dis sik kin day insay tu to tri ia. |
| Gaucher tayp 3 (Tayp 3) . | Pan ɔl we i kɔmɔn na di wɔl, i nɔ kin bɔku na kɔntri dɛn lɛk Sri Lanka. di sayn dεm de sho bifo i rich 10. I kin afekt di bon dεm εn di כgan dεm, εn di bren (nervous system). | Tritmɛnt kin ɛp bɔku pipul dɛn fɔ liv te dɛn ol 20 ɔ 30 ia. |
Wetin mek Gaucher sik kin apin?
Gaucher sik na wan mɛtabolik disɔda we dɛn kin gɛt frɔm dɛn mama ɛn papa . Dis min se na sɔntin we wi kin gɛt tru jin frɔm wi mama ɛn papa.
Wi bɔdi gɛt wan jin we dɛn kɔl GBA jin . di wok we dis jin de du na fכ instכkt di bכdi fכ mek wan εnzym we dεn kכl glucocerebrosidase (GCase) . biכs fכ wan mכtεshכn na di GBA jin, pכsin we gεt Gaucher sik nכ de prodyuz inof fכ dis GCase εnzym.
Fɔ tɔk am simpul wan, di sik kin kam bikɔs i nɔ gɛt wokman (di GCase ɛnzaym) we de klin di bɔdi in fat. If dis wokman nɔ de, di fat we yu nɔ want (Gaucher cells) kin gɛda na di bɔdi ɛn mek prɔblɛm.
Dis we aw di fat kin gɛda kin afɛkt di we aw di ɔgan dɛn kin wok, i kin pwɛl di blɔd sɛl dɛn, ɛn i kin mek di bon dɛn wik.
Wetin na di sayn dɛm fɔ Gaucher sik?
De sayn dɛm fɔ Gaucher sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɛn ɔda wan dɛn kin gɛt siriɔs wɛl bɔdi prɔblɛm. Lɛ wi sheb dɛn sayn ya to sɔm kayn grup dɛm.
di ifekt dεm pan di intanεt כgan dεm εn blɔd
We fat kemikal dɛn kin gɛda na di bɔdi, dɛn kin afɛkt yu blɔd ɛn yu ɔgan dɛn difrɛn difrɛn tin dɛn.
- Anemia: .We di fat gɛda na di bon mɛro, di rɛd blɔd sɛl dɛn we de kɛr ɔksijɛn kin pwɛl. Anemia kin kam bikɔs di rɛd blɔd sɛl dɛn nɔ de.
- di כgan dεm we big: di splin εn di liva kin swεla εn big as fεt de bכku insay dεm. Dis kin mek di bɛlɛ bulge fɔ go bifo ɛn mek i fil pen. As di splin de big, i de pwɛl di pletlɛt dɛn, we de ɛp fɔ mek di blɔd klɔt.
- Brus ɛn blɔd: Bikɔs di pletlɛt dɛn nɔ bɔku, di bɔdi kin brus izi wan (blɔd spat dɛn kin apia). Blɔd nɔ de klot fayn fayn wan. Nɔs blɔd ɛn blɔd we de kɔmɔt ɔltɛm frɔm ivin smɔl wund kin apin.
- Taya: Anemia kin mek yu taya ɛn taya ɔltɛm.
- Prɔblɛm dɛn na di lɔng dɛn: Fɛt kin gɛda na di lɔng dɛn ɛn mek i nɔ izi fɔ blo.
Di tin dɛn we kin apin to di bon dɛn
We bon dɛn nɔ gɛt bɛtɛ blɔd, ɔksijɛn, ɛn it, dɛn kin wik ɛn dɛn kin brok kwik kwik wan.
- Pen: Bɔrku pen kin apin bikɔs blɔd nɔ de flɔ na di bon dɛm. Jɔyn pen ɛn at at sik kin bɔku.
- Osteonecrosis: Dɛn kin kɔl am bak avascular necrosis , dis na di day we di bon tisu dɛn de day bikɔs di ɔksijɛn nɔ de na di bon dɛn.
- Bɔn dɛn kin brok izi wan: Gaucher sik kin mek pɔsin gɛt wan sik we dɛn kɔl ɔstioporosis (lɔs kalsiɔm na di bon dɛn, di bon dɛn kin tan). Dis kin mek di bon dɛn brok ivin if pɔsin wund smɔl.
Efεkt dεm pan di bren (tayp 2 εn 3 nכmכ) .
Apat frɔm ɔda sayn dɛm, di kayn 2 ɛn 3 pan Gaucher sik kin afɛkt di bren bak.
- Tayp 2: Di simptom dεm de sho insay di fכs 6 mכnt dεm we i de liv. Yu kin si tin dεm lεk i at fכ gi pikin bεlε εn i kin delay fכ gro.
- Tayp 3: De sik kin kam bifo yu ol 10. Dɛn kin tranga pasmak as tɛm de go.
- Di kɔmɔn nyurolɔjik simptom dɛm:
- I nɔ izi fɔ muv di yay frɔm wan say to di ɔda say
- Prɔblɛm dɛn we pɔsin kin gɛt we i de waka ɛn balans
- Seizure ɛn mɔsul dɛn we de twitch
Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Gaucher?
If yu ɔ yu pikin gɛt ɛni wan pan dɛn sik ya, yu fɔ go to yu dɔktɔ ɛn tɛl am bɔt am. Di dɔktɔ go chɛk yu ɛn aks yu bɔt di sayn dɛm we yu gɛt.
Tu men we de fɔ kɔnfirm se Gaucher sik de:
1. Blɔd tɛst: Dis de mɛzhɔ di lɛvɛl we di GCase ɛnzaym we wi bin tɔk bɔt na di blɔd de.
.
De impɔtant tin na dat sɔm pipul dɛn kin gɛt dis sik.I pɔsibul. Dat min se dɛn nɔ gɛt di sik, bɔt dɛn pikin dɛn de pan denja fɔ gɛt dis sik. If pɔsin na yu famili gɛt dis sik, ɛn yu de plan fɔ bɔn pikin, i rili impɔtant fɔ gɛt kɔyl fɔ yu jɛnɛtiks.
Yu tink se tritmɛnt de fɔ di sik we dɛn kɔl Gaucher?
Yɛs! Tritmɛnt dɛn de we rili fayn, mɔ fɔ Gaucher tayp 1. Bɔt stil, no mɛrɛsin nɔ de fɔ di bren damej we tayp 2 ɛn 3 kin mek.
Tu men we dɛn de fɔ trit pɔsin.
| Di we aw dɛn kin trit am | Wetin de apin? | Aw fɔ gi |
|---|---|---|
| Ɛnzaym Riplesmɛnt Tɛrapi (ERT) . | di dεfisiεns dεm na di bכdi nid di εksternal saplai fכ di GCase εnzym. dis εnzym de travul tru di bכdi go na di כgan dεm εn bon dεm εn i de brok di fεt we dεn gεt. | Dɛn kin gi am insay di bɛlɛ, lɛk salin, wan tɛm ɛvri tu wik. |
| Sabstrat Ridyushɔn Tɛrapi (SRT) . | Wetin dis de du na fɔ ridyus di prodakshɔn fɔ da kayn fat de we gɛt prɔblɛm na di bɔdi. Dat min se, i de ridyus di ‘garbage’ we de gɛda. | Dɛn kin gi am as mɛrɛsin we dɛn kin it ɛvride. |
Dɛn fɔ tek dis tritmɛnt fɔ ɔl dɛn layf. If dɛn trit am fayn, pɔrsin wae gɛt tayp 1 kin liv nɔrmal, ful layf.
Ustɛm a fɔ go to dɔktɔ?
If yu ɔ yu pikin gɛt ɛni wan pan di sayn dɛn we wi dɔn tɔk bɔt na dis atikul, go to yu famili dɔktɔ wantɛm wantɛm.
- If yu gɛt famili histri , we min se if yu fambul gɛt Gaucher sik, i impɔtant fɔ mek dɛn du tɛst bak.
- If dɛn no se yu gɛt di sik we dɛn kɔl Gaucher, mek yu brɔda ɛn sista dɛn no, bikɔs dɛn kin gɛt di sik bak ɔ dɛn kin gɛt di sik.
- If yu de wet fɔ pikin ɛn yu fil se yu de pan denja, go to advays bɔt yu jɛnɛtiks .
Na nɔmal tin fɔ fil frayd ɛn wɔri wae yu lan bɔt wan sik wae nɔr kin bɔrku lɛk Gaucher sik. Bɔt mɛmba se di tritmɛnt dɛn we de tide kin rili wok. Di tin we impɔtant pas ɔl na fɔ gɛt kɔrɛkt diagnosis, wok wit spɛshal dɔktɔ, ɛn fala wan tritmɛnt plan we nɔ de chenj. Da we de, yu go ebul fɔ kɔntrol di sik dɛn we yu de gɛt, mek yu nɔ pwɛl fɔ lɔng tɛm, ɛn yu go gɛt wɛlbɔdi.
Mɛsej we dɛn kin kɛr go na os
- Gaucher sik na wan sik wae de kam wit jεnεtiks wae de pas dεm tru jεnereshכn. I kin kam bikɔs wan ɛnzaym nɔ de na di bɔdi.
- Tri men kayn dɛn de, ɛn fayn tritmɛnt dɛn de fɔ tayp 1, we na di wan we dɛn kin yuz mɔ.
- Fɔ brus ɔltɛm, fɔ taya pasmak, fɔ pen na yu bon, ɛn fɔ gɛt bɛlɛ we big kin bi di men sayn dɛm.
- Dɛn kin no di sik kɔrɛkt wan tru blɔd tɛst ɔ DNA tɛst.
- If yu ɔ sɔmbɔdi na yu famili gɛt di sik, tɔk to yu dɔktɔ ɛn nɔ de te. Di kwik we dɛn bigin fɔ trit, na di mɔ di tin go fayn.
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