Sɔntɛnde yu kin gɛt pen ɛn inflamɛns we yu nɔ go ebul fɔ bia na yu an ɛn fut, wit smɔl smɔl rɛd spat dɛn na yu bɔdi? We yu gɛt sɔm kayn sik dɛn we tan lɛk se dɛn nɔ gɛt natin fɔ du wit am wantɛm wantɛm, dat kin bi big prɔblɛm. Tide wi de tɔk bɔt wan sik we kin mek pɔsin gɛt di sem kayn sik, bɔt bɔku pipul dɛn na wi kɔntri nɔ yɛri bɔt am. Dat na Fabry Disease.
Fɔ tɔk am simpul wan, wetin na Fabry Disease?
Fabry sik na wan jenɛtik kɔndishɔn we wi kin gɛt frɔm wi jin. I nɔ kin apin so ɔltɛm. Pɔsin we gɛt dis sik kin gɛt bɔku fat we kin gɛda na in bɔdi sɛl. Imajin wetin go apin if di pɔsin we de gɛda dɔti nɔ kam na wi os fɔ sɔm dez? Di dɔti kin gɛda na wi os, nɔto so? Na so i bi. pan dis sik, di enzym we de brok dכn εn pul dis fεt sכbstans na wi sεl dεm nכ de prodyuz na di bכdi, כ i nכ de wok fayn.
We fat gɛda dis kayn we, wi blɔd vesel dɛn kin bigin fɔ smɔl. Dis kin mek di skin, di kidni, di at, di bren, ɛn di nervɔs sistɛm pwɛl . Dɔktɔ dɛn kin kɔl dis bak "storage disorder." Dɛn sayn ya kin bigin we dɛn smɔl. Ɛn i kin apin mɔ pan man dɛn pas uman dɛn.
Nɔ wɔri. Pan ɔl we no mɛrɛsin nɔ de fɔ dis, gud tritmɛnt dɛn de tide we go ɛp yu fɔ kɔntrol yu sik dɛn ɛn liv nɔmal layf.
Wetin kin mek pɔsin gɛt Fabry sik?
Dis na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Dat min se na sɔntin we yu gɛt frɔm yu mama ɔ papa. Wi nid wan enzym we dεn kכl alfa-galactosidase A fכ brok dכn tin dεm lεk כyl, waks, εn fεt asid dεm na wi bכdi. Pɔsin we gɛt Fabry sik nɔ gɛt dis ɛnzaym, ɔ if dɛn gɛt am, i nɔ de wok fayn. So, lɛk aw a bin dɔn tɔk bifo tɛm, dis kayn fat kin bigin fɔ gɛda insay di sɛl dɛn.
Wetin na di sayn dɛm fɔ dis sik?
De sayn dɛm fɔ Fabry sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt dis sik bad bad wan, ɛn ɔda wan dɛn nɔ kin afɛkt so. Lɛ wi tek wan luk pan de men sayn dɛm wae yu kin si.
| Di sayn we de sho se di sik de | Tɔk bɔt |
|---|---|
| Pen ɛn inflamɛns na di limb dɛn | Dis pen kin bɔku we yu de du ɛksɛsayz, we yu gɛt fiva, we yu de wam pasmak, ɔ we yu taya. |
| Spɔt dɛn na di skin | sכm sכm, dak rεd כ pepul spat dεm we dεn kin si mכst na di εria bitwin di bכtכk εn di kכn. |
| Di we aw pɔsin nɔ de si fayn | Kɔndishɔn lɛk we yu nɔ de si fayn ɔ we yu gɛt katarakt. |
| I nɔ kin izi fɔ yɛri | Yu nɔ de yɛri ɔ yu de "ring" ɔltɛm na di yes. |
| Di swet we de go dɔŋ | We yu swet smɔl pas di wan we pɔsin kin swet, i kin swet. |
| Prɔblɛm dɛn we de na di dijestiv sistɛm | Bɛlɛ pen ɛn di nid fɔ pul dɔti wantɛm wantɛm afta yu dɔn it. |
Siriɔs prɔblɛm dɛn we kin apin
Fabry sik kin kam wit mɔr siriɔs prɔblɛm as tɛm de go. Dis risk kin pasmak pan man dɛm. Bɔt uman dɛm we gɛt di jin fɔ dis sik (carriers) kin gɛt sɔm sayn dɛm bak. So, i rili impɔtant fɔ mek uman dɛn no bɔt dis sik ɛn fɔ go to dɔktɔ ɔltɛm.
- Di risk fɔ gɛt at atak ɔ strok kin bɔku .
- Sivɛri kidni damej ɛn kidni nɔ de wok fayn.
- Di ay blɔd prɛshɔn.
- At nɔ de wok fayn ɛn at kin big.
- Tin we di bon dɛn kin tan (Osteoporosis).
Aw fɔ no dis sik kɔrɛkt wan?
Fɔ tɔk tru, sɔntɛnde i kin tek lɔng tɛm fɔ no if pɔsin gɛt Fabry sik. De rizin na bikɔs de sik kin tan lɛk bɔrku ɔda sik. Dis kin mek sɔm pipul dɛn nɔr kin no se dɛn gɛt Fabry sik te sɔm ia afta de sik bigin. Insay da tɛm de, dɛn kin dɔn go to difrɛn dɔktɔ dɛn fɔ difrɛn sayn dɛn, ɛn sɔntɛnde dɛn kin ivin gɛt di rayt diagnosis.
If pɔsin na yu famili dɔn gɛt dɛn sik ya ɛn yu tink se yu de pan denja, i go fayn fɔ tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks .
We yu go si di dɔktɔ, i go chɛk yu ɛn aks yu kwɛstyɔn dɛn lɛk dɛn wan ya:
- Aw yu de fil?
- Wetin na yu sayn dɛm?
- Ustɛm dɛn tin ya bigin?
- Ɛnibɔdi na yu famili gɛt ɛni wan pan dɛn tin ya?
Bay dis infɔmeshɔn, if di dɔktɔ sɔprayz se dis kin bi Fabry sik, i go aks yu fɔ mek dɛn du blɔd tɛst (fɔ chɛk di lɛvɛl we di alpha-galactosidase A ɛnzaym we a bin tɔk bɔt) ɔ fɔ du DNA tɛst .
Aw dɛn kin trit am?
Tu men tritmɛnt de fɔ Fabry sik.
1. Enzyme Replacement Therapy (ERT): Dis na di mכst we dεn kin yus. dis involv fכ gi di bכdi wan εnzym we nכ de כ we nכ de wok fayn tru wan salin sכlushכn. Dɛn kin du dis na ɔspitul ɔ klinik lɛk wan tɛm ɛvri tu wik. Dis tritmɛnt de stɔp di fat we de gɛda na di bɔdi ɛn kɔntrol di pen ɛn ɔda sayn dɛm.
2. Migalastat (Galafold): Dis na nyu mɛrɛsin we dɛn kin tek as pil. I de wok bay we i de mek di ɛnzaym we nɔ de wok fayn ɛn i de mek i wok fayn.
Apat frɔm dɛn men tritmɛnt ya, yu dɔktɔ kin tɛl yu fɔ du ɔda tritmɛnt dɛn dipen pan di sayn dɛn we yu gɛt.
- Painkillers fɔ pen we kin kam bikɔs ɔf di nerve damej.
- Mɛrɛsin fɔ prɔblɛm wit bɛlɛ.
- Blɔd tin dɛn fɔ mek blɔd nɔ klɔt.
- Mɛrɛsin fɔ mek yu gɛt ay blɔd prɛshɔn ɛn fɔ protɛkt yu kidni.
If di sik dɔn pwɛl di kidni bad bad wan, i kin nid fɔ du dayalaysis ɔ ivin fɔ transplant di kidni.
Test dɛm wae de monitar yu kɔndishɔn
We yu de du tritmɛnt, yu dɔktɔ go de du difrɛn tɛst dɛn ɔltɛm fɔ wach yu sik.
| Tɛst | Simpul ɛksplen |
|---|---|
| EKG (Ilektrokardiogram) . | fכ mכsu di ilektrikal aktiviti fכ di at, fכ chεk di at rεt εn ritm. |
| Ekokardiogram we dɛn kin du | Wan ɔltra saund skan fɔ di at. Dis kin mɛzhɔ di wɛlbɔdi ɛn di wok we di at pat dɛn de du. |
| MRI na di bren | Fɔ gɛt ditayla pikchɔ dɛn bɔt di bren ɛn ɔda ɔgan dɛn. |
| CT skan we dɛn kin du | Fɔ tek ditayla pikchɔ dɛn fɔ di insay pat na di bɔdi bay we yu de yuz ɛkstrem rayt. |
| Ɔda tɛst dɛn | Blɔd, urine, tayroyd tɛst, tɛst fɔ yɛri ɛn si, tɛst fɔ mek di lɔng in wok fayn. |
Mɛsej we dɛn kin kɛr go na os
- Fabry sik na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa, we pɔsin kin gɛt frɔm in jɛnɛtiks. I nɔ kin pas pɔsin.
- Bɔrku sayn dɛm wae nɔr gɛt natin fɔ du wit dis kin apin togɛda, lɛk wae yu de fil pen bad bad wan, yu gɛt rɛd spat na yu skin, ɛn yu nɔr de swet.
- I kin tek tɛm fɔ no di sik, bɔt blɔd ɛn DNA tɛst kin rili kɔnfirm di sik.
- Pan ɔl we dɛn nɔ go ebul fɔ mɛn dis sik ɔltogɛda, naw dɛn gɛt fayn tritmɛnt dɛn (lɛk ERT) we go ebul fɔ kɔntrol di sik dɛn, fɔ mek dɛn nɔ gɛt siriɔs prɔblɛm dɛn, ɛn ɛp pipul dɛn fɔ liv nɔmal layf.
- Nɔ ɛva skip di tritmɛnt ɛn tɛst dɛn we yu dɔktɔ de gi yu. Fɔ fala yu dɔktɔ in instrɔkshɔn ɔltɛm rili impɔtant fɔ yu wɛlbɔdi tumara bambay.
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