Yu dɔn ɛva si sɔm pipul dɛn we gɛt fayn fayn skin ɛn ia, sɔntɛnde dɛn kin ivin wayt? Ivin dɛn yay layt, lɛk pɔsin we kɔmɔt na ɔda kɔntri. Sɔntɛm wan pan yu famili, yu padi, ɔ ivin yu yon pikin gɛt dɛn abit dɛn ya. Na mɛrɛsin, wi kin kɔl dis Oculocutaneous Albinism (OCA). Nɔ fred, ilɛksɛf di nem tan lɛk se i lɔng smɔl. Dis na wan rare, dat na, rili rare, jenɛtik kɔndishɔn. Tide, wi go tɔk bɔt am na wan rili simpul we, so dat yu go ɔndastand am.
Naw yu go mɔs de wɔnda wetin na dis albinism (OCA) ɛn wetin mek i kin apin, nɔto so? Fɔ tɔk am simpul wan, sɔntin de na wi bɔdi we de gi kɔlɔ to wi skin, ia, ɛn yay, ɛn dɛn kɔl am melanin. I tan lɛk pent. Dis melanin na in de gi wi skin, ia, ɛn yay dɛn spɛshal kɔlɔ. So, wetin kin apin to pipul dɛm wae gɛt albinism na dat dɛn bɔdi nɔr kin ebul fɔ prodyuz dis melanin fayn fayn wan ɔr sheb am ɔlsay na dɛn bɔdi. Imajin, we di pent go dɔŋ smɔl, i kin layt in kɔlɔ. Na dat mek dɛn skin, dɛn ia, ɛn dɛn yay kin layt pas aw dɛn bin de tink. dis melanin we de dכn nכ de כnli afekt di we aw wi de luk, bכt dis melanin implεnt bak fכ wi yay fכ wok fayn fayn wan.
Dis chenj na aw yu luk kin shem smɔl fɔ sɔm pipul dɛm, ɛn na nɔmal tin fɔ fil smɔl shem ɛn wɔri fɔ luk difrɛn na sosayti. Dɔn bak, di tin dɛn we kin apin to di yay kin mek i nɔ izi fɔ du ɛvride wok. I kin rili mek pɔsin in at pwɛl. Bɔt, di bɛst pat na dat, tritmɛnt dɛn de we kin ɛp fɔ ridyus di ifɛkt pan di yay na dis kɔndishɔn.
Aw yu go no if yu gɛt albinism (OCA)? Wetin na di sayn dɛm we de sho se yu gɛt dis sik?
Apat frɔm di sayn dɛm wae yu kin si pan dis sik wae gɛt albinism (OCA), sɔm kayn sayn dɛm de bak wae na dɔktɔ nɔmɔ kin no tru spɛshal tɛst. Lɛ wi tek wan luk pan wetin dɛn bi.
Di chenj dɛn we pɔsin kin si na di skin ɛn di ia
Dis na di sayn wae de mɛk pɔrsin kin fil bɔt albinism (OCA) pasmak ɛn i kin izi fɔ si.
- I kin chenj: Pipul wae gɛt albinism (OCA) kin gɛt wayt ia ɔr wan rili layt yɔlɔ/golden kɔlɔ. Dis kin apin mɔ pan yɔŋ pikin dɛn. Bɔt as dɛn de ol, lɛk we dɛn smɔl ɔ we dɛn yɔŋ, dɛn ia kin bigin fɔ gɛt sɔm kɔlɔ. Aylash, aybrɔw, ɛn ɔda bɔdi ia kin wayt ɔ layt bak.
- Skin chenj: Dipen pan di kayn albinism (OCA) we yu gɛt, yu skin kin rili pale. Sɔm pipul dɛn skin kin so layt dat i kin tan lɛk se i translucent, we min se di skin kin rili tan ɛn yu kin si am. Ɔda pipul dɛn nɔ kin tan we dɛn smɔl, bɔt dɛn kin gɛt smɔl chenj na dɛn skin kɔlɔ as dɛn de ol.
Simptom ɛn diskɔmfɔt we dɛn kin si na di yay
Albinism (OCA) kin mek bak di yay kɔlɔ chenj bad bad wan.
- If yu gɛt albinism (OCA), di ayris na yu yay kin bi wan rili layt blu/layt grey kɔlɔ. Sɔntɛnde, we layt hit yu yay, di ayris kin tan lɛk pink ɔ rɛd. Dis kɔlɔ kin chenj bak ɔlsay na yu layf. Bɔt sɔm kayn albinism (OCA) kin mek bak yu yay brawn.
Ɔda prɔblɛm dɛn we yu kin gɛt na yu yay na:
- Prɔblɛm fɔ si: Yu nɔ de si fayn, yu nɔ de si tu tɛm, ɔ yu nɔ de si fayn.
- Fɔtofɔbia: Dis min se i nɔ kin izi fɔ mek yu yay opin fɔ di san ɔ brayt layt, ɛn yu yay kin blu.
- di chenj dεm we de apin na aw di tu yay dεm de wok togeda: kכndishכn dεm lεk strabismus, usay di yay dεm nכ de pכynt di sem dεyshכn, εn i at fכ kכmbayn wetin di tu yay dεm de si to wan imej (baynocular vision dysfunction).
- Yu de muv kwik kwik wan we yu nɔ de kɔntrol yu yay (Nystagmus): Dis kin mek yu vɛks bad bad wan.
- blכr vishכn biכs fכ chenj dεm na di shep fכ di yay (Refractive errors): I sכm kayn we lεk kes dεm we dεn nid glas.
Wetin di dɔktɔ de si we dɛn de du di ay ɛgzam
We yu go to ay dɔktɔ, ɔda sayn dɛn de we i go luk fɔ we yu de du di ɛgzam:
- di blak ring (iris) na yu yay so tint dat yu kin si layt de pas tru am we yu de egzamin yu yay.
- I kin chenj di shep fɔ yu retina, we kin afɛkt di we aw yu yay de wok.
- di chans de fכ chenj di strכkchכ fכ di optik nεv we de kכnekt di yay dεm to di bren. Dis kin afɛkt di we aw di bren de prosɛs wetin yu de si ɛn aw yu de si di wɔl.
Ɔda sayn dɛn we kin apin
Sɔm kayn albinism (OCA), ɔr ɔda kayn sik wae kin mek pɔrsin gɛt dis sik kin mek ɔda patikyula sayn dɛm ɛn ifekt dɛm. Sɔm ɛgzampul dɛn na:
- Disabiliti dɛn we gɛt fɔ du wit intɛlektual
- Di ayt kin chenj
- Prɔblɛm fɔ kɔntrol di mɔsul ɔ di prɔblɛm we de mek pɔsin muv
Bɔt ɔda sayn dɛm lɛk dis kin apin pan di rarest form of albinism (OCA). Yu dɔktɔ kin advays yu fayn fayn wan bɔt di sayn dɛm we yu (ɔ pikin we yu de kia fɔ) kin gɛt.
Wetin mek dis albinism (OCA) kin apin?
Albinism (OCA) de kכz fכ chenj (mכtεshכn) na wi DNA, we min se na jεnεtik dεfεkt we de afekt di we aw wi bכdi de prodyuz melanin. So, na wan jenɛtik kɔndishɔn. Tu we dɛn de we i kin apin:
- Inhɛritɛshɔn frɔm mama ɛn papa: Bɔku tɛm, albinism (OCA) kin kam bikɔs ɔf di jɛnɛtik dɛfɛkt (muteshɔn) we dɛn kin gɛt frɔm di mama ɛn papa. dis dεm de כltεm inhεrit insay wan כtosom rεsεsiv we.Fɔ tɔk am simpul wan, dis min se di pikin go jɔs gɛt dis sik if dɛn gɛt di jin we nɔ fayn frɔm dɛn mama ɛn papa. I nɔ go du if i kɔmɔt frɔm jɔs wan pan di tu.
- rεndכm chenj dεm we de apin di tεm we di εmbrayo de stej: sכmtεm, wan random chenj na di jin dεm kin apin ali na di pikin in layf, nכto we di mama εn papa gεt. Dɔktɔ dɛn nɔ no gud gud wan wetin mek dis kin apin, ɛn dɛn nɔ kin ebul fɔ tɔk bɔt am bifo tɛm.
Us ɔda prɔblɛm dɛn kin kam wit albinism (OCA)?
As wi bin dɔn tɔk bifo tɛm, melanin na wan tin we de protɛkt pɔsin. Wi bɔdi de mek am fɔ tek di bad bad UV raytin we de kɔmɔt na di san. Na dat mek pipul dɛn we nɔ gɛt albinism kin tan we dɛn de go na di san. Dis UV raytin de pwɛl di DNA we de na wi skin sɛl dɛn. Dis damej de mek di risk fɔ gɛt kansa na di skin, mɔ di basal sɛl kansa ɛn squamous cell carcinoma. Di damej we UV raytin kin gɛt kin bɔku, so di mɔ damej de, na di mɔ di risk fɔ gɛt kansa. Pipul wae gɛt albinism nɔr kin gɛt bɛtɛ melanin, so i impɔtant fɔ protɛkt dɛn skin frɔm di san.
Aw dɔktɔ kin no di rayt we fɔ no if pɔsin gɛt albinism (OCA)?
Dɔktɔ kin sɔprayz se yu gɛt OCA we dɛn notis chenj na yu skin, yu ia, ɔ yu yay. Bɔku tɛm, dɛn kin no am we i rili yɔŋ. Di dɔktɔ dɛn we de mɛn pikin dɛn na dɛn fɔs fɔ ɛp fɔ no di sik. Dɔktɔ dɛn kin yuz sɔm we dɛn fɔ kɔnfɔm OCA ɛn no di patikyula kayn.
Sɔm pan dɛn we dɛn de na:
- Fɔ chɛk yu bɔdi
- Blɔd tɛst dɛn
- Ay ɛgzam
- Test fɔ di jenɛtiks
- Visual evoked potentials (VEP) tɛst we pɔsin kin gɛt
- Optik kohɛrɛns tomografi (OCT) .
Tritmɛnt de fɔ albinism (OCA)?
Fɔ tɔk tru, no mɛrɛsin nɔ de fɔ mɛn sik we dɛn kɔl albinism (OCA). Bɔt sɔm tritmɛnt dɛn de wae kin ɛp fɔ ridyus de diskɔmfɔt wae kin kam wit dis sik.
Di men tin we pipul dɛn we gɛt albinism (OCA) kin pe atɛnshɔn pan na fɔ trit di ay kɔndishɔn dɛn we gɛt fɔ du wit am, lɛk:
- Les yay (Amblyopia) .
- Krɔs-ay (Strabismus) .
- Rifraktiv mistek dɛn
I go mɔs bi se yu yay dɔktɔ go tɛl yu fɔ wɛr sanglas ɔ tint lens fɔ mek yu nɔ fred fɔ si foto ɛn fɔ protɛkt yu yay frɔm di san.
Wan patikyula drɔg de we dɛn kɔl nitisinone (brand nem Nityr® ɔ Orfadin®). Dɛn dɔn si se i kin ɛp fɔ pipul dɛn we gɛt oculocutaneous albinism type-1. Nitisinone de wok bay we i de kɔntrol di we aw wan impɔtant amino asid we dɛn kɔl tayrosin de brok insay wi bɔdi. Wan stɔdi we dɛn du insay 2019 sho se nitisinone ɛp fayv big pipul dɛn we gɛt albinism tayp-1 fɔ gɛt pigmɛnt na dɛn skin ɛn fɔ mek dɛn si fayn fayn wan. Risach pipul dɛn biliv bak se if pɔsin bigin di mɛrɛsin we i yɔŋ, i go wok mɔ.
Mɛmba se, bɔku tin dɛn de we kin mek yu disayd aw fɔ trit yu, so na yu yay spɛshal pɔsin nɔmɔ go ebul fɔ gi yu infɔmeshɔn bɔt di bɛst tritmɛnt fɔ yu (ɛn yu pikin). Na in go bi yu gayd.
Aw e tan lɛk fɔ liv wit albinism (OCA)?
Oculocutaneous albinism (OCA) na wan sik wae de kam wae yu de liv yu layf. Di tin dɛn we kin apin kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Bɔku pipul dɛn kin notis se dɛn yay, dɛn ia, ɛn dɛn skin kin chenj. Sɔm pipul dɛn kin notis dɛn chenj ya klia wan, ɛn ɔda pipul dɛn nɔ kin notis dɛn bɛtɛ.
Bɔrku pipul dɛm wae gɛt albinism (OCA) kin gɛt wɛl bɔdi prɔblɛm wae gɛt fɔ du wit dis sik, mɔr lɛk dɛn yay prɔblɛm. Bɔt, prɔblɛm dɛn we kin mek pɔsin in layf de pan denja ɔ we kin mek pɔsin in layf de pan denja nɔ kin bɔku. Di tin we impɔtant pas ɔl na fɔ mek di skin nɔ pwɛl bikɔs ɔf di san ɛn ɔda tin dɛn we gɛt UV raytin.
If yu fala yu dɔktɔ in advays ɔltɛm ɛn tek kia ɔf yu yay, bɔku pipul dɛm wae gɛt albinism (OCA) kin liv nɔrmal layf lɛk ɔlman. Bɔrku tɛm, de sik nɔr kin afɛkt yu layf, mɔr lɛk if yu nɔr gɛt prɔblɛm lɛk kansa na yu skin.
Albinism (OCA) kin izi fɔ ɔda pipul dɛm fɔ si, ɔr kin bi sɔmtin wae nɔr so klia. Fɔ liv wit dis kɔndishɔn – ilɛksɛf i de si ɔ nɔ de si am – kin kam wit chalenj. Bɔt, dɛn tin ya na prɔblɛm dɛn we yu kin aks fɔ ɛp. If yu ɔ pikin we yu de kia fɔ gɛt sayn dɛn we de sho se yu gɛt albinism (OCA), i go fayn fɔ mek yu go to dɔktɔ ɔ pɔsin we sabi bɔt yu yay. Dɛn kin ɛp yu fɔ ɔndastand de sik ɛn ɛp yu fɔ fɛn tritmɛnt ɛn tin wae go ɛp yu.
Di tin dɛn we impɔtant pas ɔl we wi nid fɔ mɛmba frɔm dis stori na
Okay, so na sɔm tin dɛn we wi fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt tide:
- Oculocutaneous albinism (OCA) na wan sik we de mek pɔsin gɛt jɛnɛtiks. Na difεkt we de mek ɔ sheb melanin, di pigment we de gi kɔlɔ to wi skin, ia, ɛn yay.
- Dis na tin wae kin apun to yu layf, bɔt yu kin ebul fɔ kɔntrol de prɔblɛm wae kin kam wit am.
- Di tin we impɔtant pas ɔl na fɔ protɛkt yu skin frɔm di san.Bikɔs if yu nɔ gɛt bɔku melanin, dat min se yu go gɛt kansa na yu skin, i rili impɔtant fɔ wɛr sanglas, hat, lɔng klos, ɛn gud tin fɔ protɛkt yusɛf frɔm di san.
- Yu fɔ pe spɛshal atɛnshɔn bak to yu yay. Si dɔktɔ fɔ yu yay ɔltɛm fɔ advays.
- Na nɔmal tin fɔ fil bad ɛn wɔri bɔt dis tin. Nɔ fred fɔ aks dɔktɔ, fambul, ɔ padi we yu kin abop pan fɔ ɛp yu.
- Mɛmba se ivin if yu gɛt albinism (OCA), yu kin liv gladi ɛn sakrifays layf jɔs lɛk ɔlman!
If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, fɔ tru, tɔk to dɔktɔ. Nɔ wɔri, sɔlv de fɔ ɔltin.
` Albinism, OCA, skin sik, ay sik, jenɛtik sik, melanin, san protɛkshɔn
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