Yu dɔn ɛva yɛri bɔt Gaucher Disease? Sɔntɛm nɔto so. Bikɔs na sik we nɔ kin bɔku, i nɔto kɔmɔn sik na wi kɔntri. Bɔt bikɔs na sik we pɔsin kin gɛt frɔm in jɛnɛreshɔn to ɔda jɛnɛreshɔn, i rili impɔtant fɔ no bɔt am. Dis sik kin mek yu gɛt difrɛn sayn dɛm, frɔm we yu bɔdi wik to we yu de tɔn blu ivin if yu gɛt smɔl brus.
Fɔ tɔk am simpul wan, wetin na Gaucher sik?
Okay, mek wi put am dis we. Wan spɛshal ɛnzaym de na wi bɔdi we de ɛp fɔ brok ɛn pul sɔm kayn fat dɛn. Insay di bɔdi fɔ pɔsin we gɛt Gaucher sik, dis ɛnzaym nɔ de wok fayn. Dɔn wetin kin apin na dat dɛn kayn fat dɛn de kin de na difrɛn pat dɛn na di bɔdi, mɔ na di liva, splin, ɛn bon mɛro . We fat gɛda dis we, difrɛn wɛlbɔdi prɔblɛm dɛn kin bigin fɔ kam.
Naw, no mɛrɛsin nɔr de fɔ dis sik, bɔt i dipen pan di kayn Gaucher sik wae yu gɛt, fayn fayn tritmɛnt dɛn de fɔ kɔntrol di sayn dɛm.
Tri men kayn Gaucher sik de:
1. Tayp 1: Dis na di kayn we we pipul dɛn kin yuz mɔ. I nɔ de afɛkt di nervɔs sistɛm. Di sayn dɛm kin rili smɔl fɔ sɔm pipul dɛm, bɔt kin tranga pasmak fɔ ɔda pipul dɛm. Sɔntɛnde, nɔr kin gɛt ɛni sayn fɔ de atɔl. Gud tritmɛnt dɛn de fɔ dis kayn.
2. Tayp 2 εn Tayp 3: dεn tu kayn dεm ya siriכs pas tayp 1 biכs dεn de afekt di sεntri nεv sεstem we na di bren εn spεnal kכd. di pikin dεm we gεt tayp 2 nכ kin liv pas di ej 2. Tayp 3 kin pwεl di bren bak, bכt di sayn dεm kin sho sכmtεm leta we dεn sכm pikin.
Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Gaucher?
Dis nɔto sik wae kin pas frɔm pɔrsin to ɔda pɔrsin lɛk kol. Dis na komplit jεnεtik kכndishכn we de pas frכm jεnereshכn to jεnereshכn. Na wan prɔblɛm we de na wan jin we dɛn kɔl GBA kin mek i apin.
Imajin, pikin go jɔs gɛt dis sik if dɛn gɛt dis GBA jin we nɔ fayn frɔm in mama ɛn papa. Ivin if pɔsin nɔ gɛt di sik, i kin stil gɛt dis jin we nɔ fayn na in bɔdi (bi pɔsin we de kɛr am) ɛn pas am to in pikin dɛn.
Dis sik kin mɔs pan pipul dɛn we kɔmɔt na Ju (Ashkenazi Ju) na Istan ɛn Sɛntral Yurop.
Wetin na di sayn dɛm fɔ dis sik?
Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dɛn kin difrɛn bak fɔ di kayn sik. Lɛ wi tek wan luk pan de sayn dɛm wae gɛt fɔ du wit ɛni kayn sik.
| Di Tayp fɔ Sik | Di Kɔmɔn Simptom dɛn |
|---|---|
| Tayp 1 |
|
| Tayp 2 we de na di wɔl (Fɔ pikin dɛn we ol bitwin 3-6 mɔnt) | |
| Tayp 3 we yu de du (I kin bigin we i smɔl) | |
| Gaucher we de na di at ɛn di bɔdi (Tayp 3c) . (Na wan spɛshal animal we nɔ bɔku) |
Aw fɔ no di sik?
We yu go to dɔktɔ wit dɛn sik ya, i kin aks yu kwɛstyɔn dɛn lɛk:
- Ustɛm yu fɔs notis di sayn dɛn?
- Wetin na di trayb we yu famili kɔmɔt?
- Ɛnibɔdi insay di jɛnɛreshɔn dɛn we dɔn pas na di famili bin gɛt wɛlbɔdi prɔblɛm lɛk dis?
- Ɛni wan pan yu fambul ɔ fambul dɛn dɔn gɛt pikin dɛn we nɔ rich 2 ia yet day?
If yu dɔktɔ tink se yu gɛt Gaucher sik, dɛn kin kɔnfirm am wit blɔd tɛst ɔ saliva tɛst . Dɛn go nid bak fɔ gɛt tɛst ɔltɛm fɔ wach aw di sik de go bifo.
Apat frɔm dat, dɛn kin du MRI skan fɔ chɛk if di liva ɔ splin de swel, ɛn dɛn kin du bon dɛnsiti tɛst fɔ chɛk if di bon dɛn de.
Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Gaucher?
Di tritmɛnt we dɛn kin pik kin dipen pan di kayn sik ɛn aw di sik kin tranga. If di sayn dɛm nɔr kin rili saful, nɔr kin nid fɔ gɛt tritmɛnt.
Men tritmɛnt we dɛn kin yuz
- Enzyme Replacement Therapy (ERT): Dis na di men tritmɛnt fɔ sɔm pipul dɛm wae gɛt tayp 1 ɛn tayp 3 dayabitis. Dis min se yu fɔ gi di bɔdi wan ɛnzaym we nɔ de. Dɛn kin gi dis mɛrɛsin insay di bɛlɛ (IV) lɛk wan tɛm ɛvri tu wik. I de ɛp fɔ ridyus di anemia, fɔ mek di bon dɛn strɔng, ɛn fɔ mɛn di splin ɛn liva we dɔn big. Bɔt dis tritmɛnt nɔ kin rili wok fɔ di prɔblɛm dɛn we de wit di nervɔs sistɛm we de afɛkt di bren. `Imiglucerase (Cerezyme)` ɛn `Velaglucerase alfa (VPRIV)` na dis kayn drɔgs.
- Substrate Reduction Therapy (SRT): Dis na pils dεm we de kכntro di prodakshכn fכ di fεt we de bכlכp na di bכdi insay Gaucher sik. Eliglustat (Cerdelga) ɛn Miglustat (Zavesca) na dɛn kayn mɛrɛsin dɛn de. Dɛn kin gi dɛn to tayp 1 big pipul dɛn we nɔ fayn fɔ ERT tritmɛnt.
Di tin we impɔtant pas ɔl na dat, no mɛrɛsin nɔ de yet we go stɔp di bad bad tin we kin apin to pɔsin in bren we gɛt tayp 3 dayabitis, bɔt di wan dɛn we de stɔdi bɔt dis de kɔntinyu fɔ wok pan am.
Ɔda tritmɛnt dɛn we de sɔpɔt pɔsin
- Blɔd transfyushɔn fɔ blɔd we nɔ gɛt bɛtɛ blɔd
- Mɛrɛsin fɔ mek di bon dɛn strɔng ɛn fɔ mek di pen nɔ bɔku
- Jɔyn riplesmɛnt ɔpreshɔn fɔ mek yu ebul fɔ muv fayn fayn wan
- Ɔpreshɔn fɔ pul wan splin we dɔn big
- Di mɛrɛsin dɛn we dɛn kin yuz fɔ kɔntrol di pen
- Fɔ tek ɔda tin dɛn lɛk vaytamɛn D ɛn kalsiɔm if yu dɔktɔ tɛl yu fɔ tek am
Liv wit de sik ɛn wetin fɔ ɛkspɛkt
Bikɔs dis sik difrɛn fɔ ɛnibɔdi, yu nid fɔ woke klos wit yu dɔktɔ fɔ fɛn di tritmɛnt plan we go fayn fɔ yu. Tritmɛnt kin ɛp yu fɔ liv bɛtɛ layf ɛn lɔng yu layf.
Pikin we gɛt Gaucher sik kin gro slo smɔl pas ɔda pikin dɛn. I kin bi bak se dɛn dɔn delay fɔ bɔn pikin. Dipen pan de sayn dɛm, yu kin nid fɔ avɔyd tin dɛm lɛk kɔntakt spɔt. Sɔm pipul dɛn kin gɛt fɔ tray tranga wan fɔ kɔntinyu fɔ du tin bikɔs dɛn kin fil pen bad bad wan ɛn dɛn kin taya.
Fɔ liv wit dis kayn sik na prɔblɛm, so i rili impɔtant fɔ aks fɔ sɔpɔt frɔm yu fambul ɛn padi dɛm, ɛn bak fɔ gɛt saykilɔjik advays if nid de.
Mɛsej we dɛn kin kɛr go na os
- Gaucher sik na wan sik wae de kam wit jεnεtiks wae de pas tru jεnereshכn, nכto sik wae de kכmכt frכm wan pכsin to כda pכsin.
- Di sayn dɛm kin difrɛn bad bad wan fɔ di kayn sik ɛn di pɔrsin. Fɔ sɔm pipul dɛm, di sayn dɛm nɔr kin rili saful.
- I rili impɔtant fɔ no di sik ɛn bigin fɔ trit am kwik.
- Pan ɔl we tritmɛnt dɛn de we kin rili wok fayn (ERT ɛn SRT) fɔ tayp 1 ɛn sɔm tin dɛn we kin apin to tayp 3, dɛn nɔ kin ebul fɔ mɛn di sik ɔltogɛda.
- If yu ɔ yu pikin gɛt dis sik, i impɔtant fɔ fala di rayt tritmɛnt plan bay we yu de wok togɛda wit yu dɔktɔ.
- Fɔ gɛt sɔpɔt frɔm famili ɛn sɔpɔt grup na big big tin fɔ mek yu gɛt trɛnk na yu maynd.
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