Yu fil lɛk se yu an ɛn fut dɛn jɔs de bɔn ɔ de ting? Sɔntɛnde, yu kin fil taya pasmak ivin afta yu dɔn du smɔl smɔl wok dɛn? Pan ɔl we dɛn tin ya kin tan lɛk nɔmal tin, sɔm tɛm dɛn kin gɛt wan kayn jenɛtik kɔndishɔn we nɔ kin apin biɛn dis, lɛk Fabry Disease. Sɔntɛm yu nɔ ivin yɛri bɔt dis nem. Bɔt i rili impɔtant fɔ no bɔt am. Lɛ wi tɔk bɔt am jɔs tide.
Fɔ tɔk am simpul wan, wetin na Fabry Disease?
Fabry sik na wan jenɛtik kɔndishɔn we de rɔn na wi famili. I nɔ kin apin so ɔltɛm. Fɔ tɔk am simpul wan, pɔsin we gɛt dis sik nɔ de mek wan ɛnzaym we dɛn kɔl alfa-galactosidase A (alpha-GAL fɔ shɔt) fayn fayn wan.
Naw yu go de wɔnda wetin na dis ɛnzaym. εnzym na wan kayn protin we de εp fכ difrεn kεmikכl prכsεs dεm na wi bכdi. di men wok we dis alfa-GAL εnzym de du na fכ brok dכn wan kayn fεt we dεn kכl sphingolipids na wi bכdi, dat na fכ digεst am εn pul am kכmכt na di bכdi.
Imajin, wetin go apin if di pɔsin we de gɛda dɔti nɔ kam na wi os fɔ sɔm dez? Trash kin gɛda ɔlsay na di os, nɔto so? Na so i bi. we di alfa-GAL εnzym nכ de, wan kayn fεt we dεn kכl sphingolipids de bigin fכ kכmכt na wi bכdi vεsul dεm εn tisu dεm. Dis we aw wi kin gɛda kin pwɛl wi at, kidni, bren, nervɔs sistɛm, ɛn skin. dis de pan wan grup fכ sik dεm we dεn kכl laysosomal stכrej dizכrd.
Wetin na di men kayn dis sik?
Dɛn kin sheb Fabry sik to tu men kayn, i kin dipen pan di ej we di sik bigin fɔ sho.
| Di kayn sik (Type) . | Tɔk bɔt |
|---|---|
| Klasik tayp | Na dis kayn sik, di sayn dɛm kin bigin we dɛn smɔl ɔr yɔŋ pipul dɛm. Sɔmtɛm, di sayn dɛm lɛk fɔ swel na di an ɛn fut kin bigin as ali as i ol 2 ia. Di sayn dɛm kin wɔs smɔl smɔl as tɛm de go. |
| Let-onset/atypical tayp | Pipul wae gɛt dis kayn sik nɔr kin gɛt ɛni sik te dɛn ol 30 ia ɔr leta. Sɔmtɛm dɛn kin fɔs no bɔt dis sik afta sɔm kayn sik, lɛk wae yu kidni nɔr de woke fayn ɔr at sik dɔn kam. |
Aw Fabry sik kin kam? Yu tink se na frɔm dɛn gret gret granpa dɛn?
Yɛs, dis na sik we pɔsin kin gɛt frɔm in mama ɛn papa. Wi jin dɛn de pan tin dɛn we dɛn kɔl kromozom. di jin we nɔ fayn we de mek dis sik de na di X kromozom .
uman dεm gεt tu X kromozom dεm (XX) we man dεm gεt wan X kromozom εn wan Y kromozom (XY). Dis difrɛns kin afɛkt bak aw di sik kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn.
Lɛ wi ɔndastand am simpul wan:
- If di papa gɛt Fabry sik:
- Ɔl in gyal pikin dɛn gɛt dis X kromozom we nɔ fayn. Dis min se ɔl in gyal pikin dɛn gɛt di pawa fɔ gɛt dis sik.
- Bɔt bikɔs bɔy pikin dɛn kin gɛt di Y kromozom frɔm dɛn papa, bɔy pikin dɛn nɔ kin gɛt dis sik frɔm dɛn papa.
- If di mama gɛt Fabry sik:
- biכs di mama gεt tu X kromozom dεm, εvri wan pan in pikin dεm (i na gyal pikin כ in bכy pikin) gεt 50% chans fכ gεt di X kromozom we nכ de wok fayn. Dis min se sɔm pikin dɛn kin gɛt dis sik, ɛn sɔm nɔ kin gɛt am.
Wetin na di sayn dɛm fɔ Fabry sik?
Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Bɔku tɛm, man dɛn kin gɛt mɔ siriɔs sik pas uman dɛn. Sɔm uman dɛn kin gɛt siriɔs sik ɔ nɔr kin gɛt ɛni sayn atɔl.
Dis na di kɔmɔn sayn dɛm:
- Di an ɛn fut kin swɛla, i kin swɛt, ɔ i kin fil bad bad wan .
- Pen pasmak we yu de du ɛksɛsayz ɔr yu de du yu bɔdi.
- Intolerance to kol ɔ ɔt.
- Di swet we de go dɔŋ (haypohidrosis) ɔ nɔ de swet atɔl (anhidrosis).
- Bɛlɛ prɔblɛm lɛk bɛlɛ pen, dayarɛa, ɛn kɔnstipɛshɔn.
- Diziz we pɔsin kin gɛt.
- Di sayn dɛm we fiba di wan dɛm wae gɛt flu, lɛk fiva, bɔdi pen, ɛn taya.
- Yu nɔ de yɛri ɔ yu de ring na yu yes (tinnitus).
- sכm sכm rεd-pכpul bכmp dεm (angiokeratomas) we de sho na di skin na di chεst, bak, εn di jεnital εria.
- Swel (edema) na di leg, ankles, ɛn fut.
- di protin lεvεl dεm we de na di urine de inkrεs (proteinuria).
- wan spεshal patεn (cornea verticillata) de divεlכp insay di yay. Dis nɔ de afɛkt di we aw pɔsin de si tin. Yu kin si am nɔmɔ wit spɛshal ay ɛgzam (slit lamp ɛgzam).
Denja kɔmplikeshɔn wae kin kam bikɔs ɔf dis sik
Di kayn fat we wi bin dɔn tɔk bɔt (sphingolipids) kin gɛda na di bɔdi fɔ lɔng tɛm ɛn i kin pwɛl wi men ɔgan dɛn. Dis kin mek yu gɛt prɔblɛm dɛn we kin ivin mek yu layf de pan denja.
- At sik: at nɔ de bit ɔltɛm (arrhythmia), at atak, at de big, ɛn at nɔ de wok fayn.
- Kidni we nɔ de wok fayn: As tɛm de go, i kin nid fɔ du dayalaysis ɔ ivin fɔ transplant di kidni.
- Strɔk: Strɔk ɔ transiɛnt ischemic atak (TIA) kin apin bikɔs di blɔd vesel dɛn we de go na di bren dɔn blok.
- Nεv dεm we dεn dכn pwεl (pεrifεral nyuropati).
Aw fɔ no di sik?
If yu gɛt sayn dɛn lɛk dis, yu dɔktɔ kin sɔprayz se dis sik de ɛn rifer yu fɔ sɔm tɛst dɛn.
| Tɛst | Tɔk bɔt |
|---|---|
| Enzyme assay we dɛn kin du | Dis na blɔd tɛst. i de mכsu di aktiviti fכ di alfa-GAL εnzym na yu bכdi. Dis tɛst kin rili kɔrɛkt fɔ man dɛn, bɔt nɔto so kɔrɛkt fɔ uman dɛn. |
| Test fɔ di jenɛtiks | Dis na di tɛst we rili klia. DNA tεst kin fכ no if mכtεshכn de na di GLA jin we de mek di sik. |
Wetin na di tritmɛnt dɛn?
No mɛrɛsin nɔ de fɔ Fabry sik yet. Bɔt nɔ giv ɔp fɔ gɛt op. Naw, tritmɛnt dɛn de we rili fayn we go ebul fɔ kɔntrol di sayn dɛn, fɔ mek di fat we de na di bɔdi slo, ɛn fɔ mek i nɔ gɛt siriɔs prɔblɛm dɛn.
Tu men we dɛn de fɔ trit pɔsin:
1. Ɛnzaym Riplesmɛnt Tɛrapi (ERT) .
dis involv fכ gi yu wan lab-meid vεshכn fכ di alfa-GAL εnzym, we yu bכdi nכ de mek. Dɛn kin gi dis mɛrɛsin as IV infushɔn, lɛk salin, ɛvri tu wik.Dis tritmɛnt de stɔp di fat we de gɛda na di bɔdi.
2. Ɔral Chaperone Tɛrapi
Dis na pil we yu de tek. Dis mεdisin de wok bay we i de ripεr di fכlt alfa-GAL εnzym na yu bכdi εn mek i wok bak. Bɔt dis tritmɛnt nɔ kin wok fɔ ɔlman. I dipen pan di kayn we aw yu jɛnɛtik chenj de. Yu dɔktɔ go disayd if dis fayn fɔ yu.
Apat frɔm dɛn men tritmɛnt ya, dɛn kin gi difrɛn mɛrɛsin fɔ pen, bɛlɛ at, ɛn ɔda sayn dɛm.
Ustɛm yu fɔ go to dɔktɔ?
If dɛn dɔn no se yu gɛt Fabry sik, yu fɔ kɔntak yu dɔktɔ wantɛm wantɛm if yu gɛt ɛni wan pan dɛn sayn ya:
- Di sayn dɛm fɔ at atak lɛk we yu de fil pen na yu chɛst, yu nɔ de blo fayn, ɛn yu at nɔ de bit ɔltɛm (if dis apin, go na di ɔspitul in Imejɛnsi Dipatmɛnt (ETU) wantɛm wantɛm).
- Fɔ swel pasmak.
- Di sayn dɛm fɔ paralayz lɛk fɔ gɛt diziz pasmak, chenj na yu yay, ɛn i nɔ izi fɔ tɔk (go to di ETU wantɛm wantɛm insay dis kes bak).
- I nɔ de yɛri igen wantɛm wantɛm.
- Bɛlɛ pen bad bad wan ɔ blo.
Na nɔmal tin fɔ fil fɔ fred ɛn wɔri we dɛn no se yu gɛt Fabry sik. Yu kin wɔri bɔt yu tumara bambay ɛn yu pikin dɛn. Bɔt naw, dɛn dɔn gɛt tritmɛnt dɛn we go wok fayn ɛn nyu risach de kam. If yu fala yu tritmɛnt plan gud gud wan ɛn wok tranga wan wit yu dɔktɔ, yu go ebul fɔ kɔntrol yu sik dɛn ɛn mek yu nɔ pwɛl fɔ lɔng tɛm.
Mɛsej we dɛn kin kɛr go na os
- Fabry sik na wan sik wae nɔr kin bɔrku pan jɛnɛtik (inherited).
- we wan kayn fεt de kכmכt na di bכdi kin pwεl כgan dεm lεk di at, di kidni dεm, εn di bren.
- Di sayn dɛm lɛk fɔ swel na yu an ɛn fut, fɔ taya pasmak, fɔ gɛt rash na yu skin, ɛn fɔ nɔ swet na di men wan dɛm.
- Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, ɛnzaym tɛrapi ɛn ɔda mɛrɛsin dɛn kin kɔntrol di sik ɛn mek i liv lɔng.
- If yu ɔ sɔmbɔdi na yu famili gɛt dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm.
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