Yu dɔn ɛva yɛri, ɔ yu dɔn yɛri frɔm sɔmbɔdi na yu famili ɔ padi, bɔt wan sik we rili strenj, we nɔ kin apin so ɔltɛm, we kin jɔs afɛkt pipul dɛn? Sɔmtɛm e kin tek lɔng tɛm fɔ no wetin na dis sik. So tide wi go tɔk bɔt dɛn kayn sik dɛn ya we nɔ kin bɔku . I rili impɔtant fɔ no bɔt dɛn tin ya, bikɔs yu nɔ go ɛva no ustɛm wi go nid dis no.
Wetin na sik we nɔ kin apin so ɔltɛm?
Fɔ tɔk am simpul wan, sik we nɔ kin bɔku na sik we kin ambɔg smɔl pipul dɛn nɔmɔ na di sosayti. Naw, luk, na kɔntri lɛk Amɛrika, dɛn kin tek wan sik we nɔ rich tu ɔndrɛd tawzin pipul dɛn as sik we nɔ kin apin so ɔltɛm. Insay Ingland, wan sik we nɔ rich wan pan ɛvri 2,000 pipul dɛn. Di Wol Ɛlth Ɔganayzeshɔn (WHO) se sik dɛn we nɔ rich 65 pan ɔl 100,000 pipul dɛn de insay dis kategori. So yu si, di difinishɔn fɔ dis kin difrɛn smɔl frɔm wan kɔntri to ɔda kɔntri.
Te naw, sɔm pipul dɛn we de stɔdi bɔt dis dɔn fɛn pas 7,000 dis kayn sik dɛn we nɔ bɔku! Imajin, ɔl dɛn sik ya kin afɛkt pas 300 milyɔn pipul dɛn ɔlsay na di wɔl, ɛn bɔku pan dɛn na smɔl pikin dɛn. Pipul dɛn de we gɛt dɛn kayn sik ya na Sri Lanka bak, bɔt dɛn nɔ kin tɔk bɔku bɔt dɛn.
Imajin if yu ɔ pɔsin we yu sabi bin gɛt dis sik we nɔ kin apin so ɔltɛm. Aw dat go tranga?
- I kin tek sɔm ia fɔ no ustɛm na di sik. Sɔntɛnde, ivin afta dɛn dɔn go to wan dɔktɔ afta di ɔda wan ɛn du wan tɛst afta di ɔda wan, dɛn nɔ kin ebul fɔ no di sik.
- De sayn dɛm fɔ dɛn sik ya kin tan lɛk ɔda kɔmɔn sik dɛm, so e nɔr kin no kwik kwik wan se dis na sik wae nɔr kin bɔrku.
- Di sayn dɛm kin mek i nɔr izi fɔ woke fayn fayn wan ɛvride, fɔ ol woke, ɔr fɔ du os woke. Fɔ sɔm pipul dɛn, jɔs fɔ pas di de kin bi big prɔblɛm.
- Bɔku sik dɛn we nɔ kin apin so ɔltɛm nɔ gɛt ɛni tritmɛnt we go wok fayn.
- Fɔ liv wit sik lɛk dis kin bi big big prɔblɛm fɔ famili dɛn pan mɔni biznɛs. I kin tranga fɔ pe fɔ di kɔst fɔ mɛrɛsin ɛn tritmɛnt.
- Di pɔsin we sik ɛn di wan dɛn we de kia fɔ am kin fil bad bad wan na dɛn maynd ɛn bɔdi.
Bɔt sayɛns de go bifo ɛvride. Sayɛnsman dɛn we de du risach bɔt sik dɛn lɛk dis kin tray ɔltɛm fɔ no di tin dɛn we kin mek dɛn sik ɛn mek nyu tritmɛnt dɛn. So nɔ wɔri.
Difrɛns de bitwin ɔfɛn sik ɛn sik dɛn we nɔ kin apin so ɔltɛm?
Bɔrku pipul kin yuse di wɔd dɛm "ɔfɛn sik" ɛn "rare disease" fɔ chenj. Bɔt smɔl difrɛns de. Ɔfɛn sik na sik dɛm wae di wan dɛm wae de du risach nɔr dɔn du bɔrku risach pan, ɔr atɔl (dis kin inklud sik dɛm wae nɔr kin bɔrku). Bɔku tɛm dis kin bi bikɔs dɛn kin spɛn bɔku mɔni fɔ du risach.
Bɔt naw di tin de chenj smɔl. Gɔvmɛnt ɛn difrɛn ɔganayzeshɔn dɛn ɔlsay na di wɔl dɔn bigin fɔ gi mɔni fɔ du risach pan ``ɔfɛn drɔgs`` fɔ fɛn mɛrɛsin fɔ dɛn kayn "ɔfɛn sik dɛm."
Wetin na sɔm sik dɛn we nɔ kin apin so ɔltɛm?
As wi bin dɔn tɔk bifo tɛm, bɔku bɔku sik dɛn de we nɔ kin apin so ɔltɛm. Sɔm pan dɛn yu go dɔn yɛri bɔt. Dɛn nɔ no ɔda wan dɛn so. Na sɔm ɛgzampul dɛn ya:
- Akromegali we gɛt sik
- Alis in Wɔndaland sindrom
- Amyotrofik latɛral sklɛrosis (ALS) .
- Aplastik anemia we dɛn kin gɛt
- Sistik fibrosis we de mek pɔsin gɛt sik
- Duchenne mכskul dεstrofi
- Ehlers-Danlos sindrom we gɛt di sik
- Fabry sik we dɛn kɔl Fabry
- Gaucher sik we dɛn kɔl Gaucher
- Wan sik we dɛn kɔl Huntington
- Mesothelioma we gɛt di sik
- Maple syrup urine sik we dɛn kin gɛt
- Siklɔs sik sik
Dɛn nem ya kin tan lɛk se dɛn strenj smɔl, bɔt ɔl dɛn nem ya na tin dɛn we nɔ kin apin so ɔltɛm we kin afɛkt pipul dɛn.
Wetin na di tin dɛn we kin mek pɔsin gɛt sik dɛn we nɔ kin apin so ɔltɛm?
Difrɛn rizin kin de fɔ mek sik dɛn we nɔ kin bɔku. Tri men kayn tin dɛn de we kin mek pɔsin gɛt dis sik:
1. Jɛnɛtiks: Di chenj we de apin na di jin na di men tin we kin mek bɔku sik dɛn we nɔ kin bɔku. Dɛn jɛnɛtik chenj ya kin kɔmɔt frɔm yu mama ɛn papa (jɛmlayn mutation), ɔ dɛn kin apin randomly na yu bɔdi we nɔ gɛt ɛni famili mɛmba (somatic mutation).
2. Jɛm/Maykrob: Infεkshכn we sכm maykrob dεm kin kכz kin rili sכmtεm. Fɔ ɛgzampul, sik dɛn lɛk TB nɔ kin bɔku na sɔm kɔntri dɛn bɔt dɛn kin bɔku na ɔda kɔntri dɛn.
3. Pɔyzin: Sɔm kemikal dɛn kin gɛt bad bad tin fɔ du to di bɔdi ɛn mek pɔsin gɛt sik. Fɔ ɛgzampul, if pɔsin gɛt asbest, i kin mek i gɛt mɛsotelioma, we na wan kansa na in lɔng we nɔ kin apin so ɔltɛm.
Apat frɔm dat, ɔda rizin dɛn kin de:
- Nɔ gɛt inof pan wan patikyula vaytamɛn ɔ minral (Nutritional deficiency).
- Aksidɛnt dɛn `(Injuri)`.
- Di tin dɛn we dɛn nɔ bin de ɛkspɛkt we dɛn de trit ɔda sik.
Sɔmtɛm, sɔm kayn tin kin de wae dɛn nɔr kin ebul fɔ fɛn ɛni kɔz fɔ dɛn sik ya wae nɔr kin bɔrku.
Wetin na di sayn dɛm fɔ dɛn sik ya?
De sayn dɛm fɔ sik dɛm wae nɔr kin bɔrku kin difrɛn frɔm dɛnsɛf. I kin difrɛn frɔm wan sik to ɔda sik. As wi bin dɔn tɔk, sɔntɛnde, dɛn sik ya kin rili fiba di sayn dɛm fɔ ɔda sik dɛm wae kin kam pan pɔrsin. Dis kin mek i nɔ izi fɔ no di sik kɔrɛkt wan. Sɔm pipul dɛn nɔr kin sho ɛni sayn at ɔl na di fɔs stej.
If yu de fil pen na yu bɔdi, yu de taya ɔltɛm, ɛn yu nɔ ebul fɔ no wetin mek yu de fil, yu go mɔs go to dɔktɔ.
Aw dɛn kin no bɔt sik dɛn we nɔ kin bɔku?
Bɔku tɛm, i nɔ kin izi fɔ no wan sik we nɔ kin apin so ɔltɛm. Bɔku rizin dɛn de fɔ dis:
- Simptom dɛm wae fiba ɔda sik dɛm.
- Bɔrku sik nɔr kin so ɔltɛm dat ivin dɔktɔ nɔr kin si dɛn bɔrku tɛm, dat kin mek i nɔr kin izi fɔ no bɔt dɛn.
I kin tek sɔm ia fɔ no di rayt tin we de apin insay yu bɔdi. Dɔktɔ dɛn go aks yu bɔt yu sik ɛn du tɛst, lɛk blɔd tɛst ɛn imej tɛst fɔ no mɔ. Dɔktɔ dɛn ɔndastand se dis tin we kin apin kin mek pɔsin strɛs ɛn i kin mek pɔsin in at pwɛl. Dɛn go du ɔl wetin dɛn ebul fɔ ɛp yu fɔ no di sik, ɔr rifer yu to spɛshal pipul dɛm wae gɛt ɛkspɛriɛns pan de eria.
Aw yu go no if pikin gɛt dɛn sik ya?
insay kכntri dεm lεk Amerika, εvri nyu bכbi pikin de du sכm spεshal tεst dεm we dεn kכl ``Newborn screenings.'' dεn de yuz dεn tεst ya fכ no sכm sik dεm we dεn nכ de si fכs fכs, bכt i kin de na di pikin (e.g., sikl sεl sik, sistik fibrosis). dis ``Nyu bכn skrinin'' na wan rili imכtant we fכ no di sik dεm we nכ kin kam pan yכŋ pikin dεm. If dɛn no di sik kwik kwik wan, dɛn kin bigin fɔ trit di pikin kwik kwik wan. Dɛn kin du sɔm pan dɛn tɛst ya bak na Sri Lanka.
Wetin na di tritmɛnt fɔ sik dɛn we nɔ kin bɔku?
Difrɛn tritmɛnt dɛn de we pɔsin kin gɛt fɔ sik dɛn we nɔ kin bɔku:
- Di mɛrɛsin dɛn we dɛn kin yuz
- Nutritional supliment ɔ chenj to di it
- Ɔkupeshɔn tɛrapi
- Sɔm tin dɛn we dɛn kin du ɔ ɔpreshɔn
- Fizik tɛrapi
- Yuz spɛshal tin dɛn fɔ mɛn pipul dɛn
Di gol dɛm fɔ tritmɛnt kin difrɛn bak fɔ di sik:
- Fɔ mɛn di sik kɔmplit wan (bɔku tɛm dis kin at fɔ du).
- Fɔ mek di sik nɔ wɔs.
- Fɔ kɔntrol di simptom dɛm.
I sɔri fɔ no se bɔku sik dɛn we nɔ kin bɔku stil nɔ gɛt ɛni mɛrɛsin, bɔt sɔm pipul dɛn we de stɔdi bɔt dis de kɔntinyu fɔ wok fɔ fɛn tritmɛnt dɛn we go ɛp bɔku bɔku pipul dɛn.
Yu kin aks yu dɔktɔ bɔt nyu tritmɛnt dɛn we dɛn kin tray fɔ du (klinik trial) . Dɛn stɔdi ya na stɔdi dɛn we dɛn tek tɛm mek usay di wan dɛn we de stɔdi bɔt dis kin tɛst aw sɔm tɛst ɛn tritmɛnt dɛn kin wok fayn. We yu jɔyn wan pan dɛn tin ya, yu go ebul fɔ gɛt di laytst tritmɛnt dɛn we go wok fayn fɔ yu sik.
Tek tɛm wit ɛni "tritmɛnt" ɔ "kyu" we yu si na di intanɛt. If yu kam mit wan, sho am to yu dɔktɔ. I kin tɛl yu if i fayn fɔ yu, if i go ɛp yu, ɔ if na jɔs fɔ west mɔni ɔ if i de ambɔg yu. Sɔm tin dɛn nɔ kin ɛp yu atɔl, ɛn sɔm kin ivin ambɔg yu.
Wetin go apin tumara bambay fɔ pɔsin we gɛt wan sik we nɔ kin bɔku?
Yu tumara bambay, ɔ wetin go apin tumara bambay, dipen pan bɔku tin dɛn:
- Wetin na yu patikyula mɛrɛsin ?
- Aw dɛn bin no di sik kwik kwik wan .
- Us tritmɛnt dɛn de we pɔsin kin gɛt ?
- Us ɔda wɛlbɔdi prɔblɛm dɛn yu gɛt?
Yu dɔktɔ dɛn kin tɛl yu mɔ bɔt dɛn tin ya. Bɔrku pipul dɛm wae gɛt dis sik wae nɔr kin bɔrku kin liv gladi, lɔng layf. Bɔt i sɔri fɔ no se sɔm sik dɛn we nɔ kin bɔku kin mek pɔsin in layf shɔt.
Mɛmba se ɔlman difrɛn. Pan ɔl we yu kin lan bɔku tin we yu tɔk to ɔda pipul dɛn we gɛt di sem sik lɛk yu, yu yon waka kin difrɛn. Fɔ ɛgzampul, nɔr pwɛl at if tritmɛnt wae bin woke fɔ ɔda pɔrsin nɔr woke fɔ yu. Yu dɔktɔ dɛn go kɔntinyu fɔ wok wit yu fɔ fɛn di bɛst tin fɔ yu.
Yu tink se dɛn kin ebul fɔ avɔyd sik dɛn we nɔ kin apin so ɔltɛm?
Bikɔs bɔku sik dɛn we nɔ kin apin so ɔltɛm na tin dɛn we pɔsin kin gɛt, na smɔl tin nɔmɔ wi kin du fɔ mek wi nɔ gɛt dɛn. If yu ɔ yu patna gɛt sik we nɔ bɔku ɛn yu de plan fɔ bɔn pikin, i go fayn fɔ mek yu go to advays bɔt yu jɛnɛtiks . Di advaysa kin ɛksplen di chans fɔ mek yu pikin gɛt di sik.
Ustɛm yu nid fɔ go to yu dɔktɔ?
If yu gɛt nyu sik ɔ if yu sik chenj fɔ no rizin, go to dɔktɔ. If yu dɔn si bɔku dɔktɔ dɛn ɛn dɛn nɔ ebul fɔ fɛn ɛni rizin, yu kin aks fɔ mek dɛn rifer yu to wan mɛdikal sɛnta we spɛshal fɔ no, trit, ɛn du risach bɔt sik dɛn we nɔ kin bɔku.
Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ
Na sɔm kwɛstyɔn dɛn ya fɔ ɛp yu fɔ lan mɔ afta yu dɔn gɛt di sik:
- Aw a bin kam insay dis kayn tin?
- Us tritmɛnt dɛn a kin gɛt? Aw dɛn kin du dɛn?
- Wetin yu go se bɔt mi tumara bambay?
- Yu go se yu fɔ tek pat pan klinik trial fɔ wan nyu ɛkspirimɛnt tritmɛnt?
- I fayn fɔ mek dɛn du tɛst fɔ mi famili bak?
- Yu kin konekt mi to pesin sopot grup lek dis?
Usay a go gɛt infɔmeshɔn ɛn sɔpɔt?
Fɔ liv wit wan sik wae nɔr kin bɔrku kin mek yu fil yu wan sɔmtɛm. I kin tranga fɔ fɛn ɔda mama ɛn papa dɛn we ɔndastand di tin we de apin to yu, mɔ if dɛn dɔn no se yu pikin gɛt dis sik. Tɔk to yu dɔktɔ bɔt aw yu go bil wan nɛtwɔk fɔ pipul ɛn tin dɛn we yu ɛn yu famili kin tɔn to fɔ sɔpɔt. Fɔ ɛgzampul, chans kin de fɔ jɔyn di onlayn pasɛnt sɔpɔt grup ɔ klinik trial.
Insay Sri Lanka, sɔm ɔspitul dɛn gɛt spɛshal dɔktɔ dɛn bak we kin ɛp pipul dɛn we gɛt sik dɛn we nɔ kin apin so ɔltɛm. Dɔn bak, sɔm ɔganayzeshɔn dɛn we de wok fɔ dɛnsɛf kin sɔpɔt dɛn kayn sik pipul dɛn de ɛn dɛn famili. So du sɔm risach.
Di tin dɛn we impɔtant pas ɔl we wi nid fɔ mɛmba
Fɔ liv wit wan sik wae nɔr kin bɔrku nɔr kin izi, bɔt mɛmba se yu nɔr de yu wan.
- Gɛt di rayt infɔmeshɔn. Lan bɔt yu sik, aw fɔ trit am, ɛn di las risach we dɛn dɔn du.
- Kɔnekt wit wan gud mɛdikal tim. Fɛn dɔktɔ ɛn wɛlbɔdi wokman dɛm we ɔndastand yu ɛn sɔpɔt yu.
- Join sɔpɔt grup dɛn. We yu tɔk to pipul dɛn we dɔn gɛt di sem ɛkspiriɛns lɛk yu, dat kin mek yu gɛt bɔku trɛnk.
- Nɔ giv ɔp fɔ op. Sayns de go bifo, ɛn nyu tritmɛnt dɛn de kam.
Wi stil no smɔl tin bɔt bɔku sik dɛn we nɔ kin apin so ɔltɛm. Bɔt pipul dɛn we de stɔdi bɔt dis de fɛn nyu tin dɛn ɛvride. So fes dis prɔblɛm wit maynd. Nɔ fɔgɛt se pɔsin de we go ebul fɔ ɛp yu, pɔsin we go lisin to yu.
` Rare Diseases, Orphan Diseases, Genetic diseases, Mεdikal diagnosis, Krεse sik, Pεshεnt sכpכt, Klinik trial
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