Yu tink se yu yay de go dɔŋ smɔl smɔl? Lɛ wi lan bɔt dis (Cone-Rod Dystrophy) !

Yu ɔ pɔsin we yu sabi, mɔ frɔm we yu smɔl, dɔn gɛt ɛni chenj na yu yay, lɛk we yu nɔ de si fayn, ɔ yu nɔ de si layt? Ɔ yu dɔn si se i nɔ izi fɔ yu fɔ no difrɛn kɔlɔ dɛn? Sɔntɛnde, dɛn tin ya kin simpul. Tide wi go tɔk bɔt wan sik we nɔ kin bɔku na di yay we nid fɔ pe atɛnshɔn smɔl, bɔt we bɔku pipul dɛn nɔ no bɔt. Dɛn kɔl dis (Kɔn-Rɔd Distrofi) ɔ (CRD).

Wetin na Kɔn-Rɔd Distrofi?

Fɔ tɔk am simpul wan, (Cone-Rod Dystrophy) na sik we de afɛkt di pat pan di retina insay wi yay. Wetin kin apin pan dis na dat wi yay de si smɔl smɔl, dat na smɔl smɔl, wi kin wik. Sɔntɛnde, dis kin mek i nɔ ebul fɔ si igen ɛn ivin blaynd . Dis na tru tin we rili sɔri.

Di men tin we kin mek wi nɔ de si fayn na di damej we di tu kayn sɛl dɛn we de na wi retina we kin fil bɔt layt , we dɛn kɔl kɔn ɛn stik . Fɔ tɔk di kɔrɛkt tin, dɛn sɛl dɛn ya kin day smɔl smɔl. di wכd Dystrophy'' insay Cone-Rod Dystrophy'' min se dεn sεl dεm ya de pwεl sכmtεm.

Imajin, if wi yay tan lɛk kamɛra, dɛn kɔn sɛl ya (Kɔn) ɛn rod sɛl (Rods) tan lɛk di smɔl smɔl dɔt dɛn we de na di (film) na da kamɛra de. Na dɛn wan dɛn de kech layt, no di kɔlɔ, mek pikchɔ, ɛn sɛn am to wi bren.

• Kכn dεm: Na dεn sεl dεm ya we de εp wi f כ si kכla , εn dεn de mek wi si shap, klia vishכn bak (especially wen wi luk stret bifo) .
• Rod: Dɛn tin ya kin ɛp wi fɔ si na dak ɛn we wi de si tin dɛn we nɔ de nia wi, dat na tin dɛn we nɔ de bifo wi dairekt wan .

insay CRD, di kכn sεl dεm kin bi di fכs wan dεm we dεn kin dכn, bכt sכmtεm dεn tu kayn sεl dεm kin dεm di sem tεm.

Dis kכndyushכn, we dεn kכl (CRD), nכ kin bכku , we min se i nכto sik we de afekt כlman. Dɔn bak, bɔku tɛm i kin bi jɛnɛtiks , we min se na sɔntin we dɛn kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. Dis sik kin bigin we dɛn smɔl ɔ we dɛn big .

Yu no wetin na di sayn dɛm fɔ dis?

Pan ɔl we di sayn dɛm fɔ CRD kin difrɛn smɔl frɔm wan pɔrsin to ɔda pɔrsin, sɔm kɔmɔn sayn dɛm de wae yu kin si. Dɛn tin ya kin bɔku as tɛm de go.

• Wiknɛs na di sɛntral pat na di yay: Bɔku tɛm dis na di fɔs sayn we pɔsin kin notis. Bɔku tɛm, i kin bigin we dɛn smɔl. Fɔ tɔk di kɔrɛkt tin, i tan lɛk se wetin dɛn de si dairekt wan nɔ klia.
• Fɔtofɔbia: Fɔ fil se yu de fil bad bad wan to brayt layt: I nɔ kin izi fɔ si we di san ɔ layt dɛn dɔn ɔt, lɛk se di yay dɛn de tɔn blu.
• I nɔ kin izi fɔ no difrɛns bitwin di kɔlɔ dɛn: As tɛm de go, i nɔ kin izi fɔ si di kɔlɔ dɛn ɛn i kin ivin mek pɔsin blaynd di kɔlɔ dɛn kpatakpata .
• Nayt blayndnɛs (Nyctalopia): Yu nɔ kin si fayn na nɛt na say dɛn we nɔ gɛt layt.
• Pɛriferal vishɔn lɔs: Nɔto jɔs di vishɔn we yu de si stret bifo de go dɔŋ smɔl smɔl, bɔt wetin yu de si na di sayd na yu yay de go dɔŋ smɔl smɔl.
• Kכmplit lכs fכ si (blindness): Dis na di stej wae de sik pasmak.

Dɛn sayn ya nɔ kin kam wantɛm wantɛm. Dɛn kin divɛlɔp smɔl smɔl. So sɔntɛnde, fɔs, yu kin tink se i nɔto big tin.

Wetin mek dis kin apin? Wetin na di rizin dɛn?

As wi bin dɔn tɔk bifo tɛm, (CRD) na bɔku pan di sik we pɔsin kin gɛt we i kam pan jɛnɛtiks . dat min se, i de kכz fכ sכm chenj dεm (mכtayshכn) we de apin na wi (DNA) . Tink bɔt am, (DNA) na di blueprint fɔ wi bɔdi. If smɔl mistek de na da bluprint de, i kin mek tin dɛn lɛk dis.

rεsכch dεn fכnshכn se atכs 28 difrεn jεnεtik mכtεshכn dεm de we kin mek dis (CRD). Bɔku we dɛn de we wi kin gɛt dɛn chenj ya:

• (Autosomal dominant): Insay dis kes, di sik kin apin ivin if di jin we nɔ fayn na wan mama ɔ papa nɔmɔ , we na di mama ɔ di papa.
• (Autosomal recessive): insay dis mεtכd, di sik kin apin כnli if di jin we nכ de wok fayn na in dεn gεt frכm di mama εn papa dεm tu . If na wan mama ɔ papa nɔmɔ i kɔmɔt, da pɔsin de kin gɛt di sik, bɔt i nɔ go sho di sayn dɛm.
• (X-linked): dis de kכz fכ wan jin we lεnk to di X kromozom. Di risk dipen pan us mama ɔ papa gɛt di jin we nɔ fayn.

di fכ jεnεtik mכtεshכn dεm we kin mek i gεt Cone-Rod Dystrophy na:

• (ABCA4)
• (CRX)
• (GUCY2D)
• (RPGR)

Pan ɔl we dɛn tin ya kɔmpleks smɔl pan mɛrɛsin, na dɛn jin ya de ɛp di kɔn sɛl dɛn ɛn di stik dɛn na wi yay fɔ wok fayn fayn wan. So we prɔblɛm de wit dɛn jin ya, di wok we dɛn sɛl dɛn de de du nɔ kin wok fayn.

Aw yu kin no dis sik kɔrɛkt wan? (Diagnosis) .

If yu ɔ yu pikin gɛt ɛni wan pan dɛn sik ya, yu fɔ rili go to dɔktɔ we de kia fɔ yu yay . I kin tɛl yu fɔ tru if dis na CRD ɔ sɔm ɔda ay sik.

I kin yuz bɔku we dɛn fɔ no if pɔsin gɛt sik dɛn:

1. Aks bɔt yu mɛdikal histri ɛn di sayn dɛm: tin dɛm lɛk chenj na yu yay ɛn if ɛnibɔdi na yu famili dɔn gɛt dis kayn prɔblɛm.

2. Dɛn kin du wan kɔmplit ay ɛgzam: Dis kin inklud bɔku tɛst dɛn.

• Test fɔ di we aw pɔsin de si:Fɔ mek pipul dɛn rid lɛta ɛn si aw fa dɛn kin si.
• Kɔlɔ vishɔn tɛst: Fɔ chɛk if yu ebul fɔ difrɛns di kɔlɔ dɛn kɔrɛkt wan.
• Slit lamp exam: Fɔ luk insay di yay wit spɛshal magnifying inschrumɛnt.

pan ɔl we dɛn tɛst ya impɔtant, di tɛst we impɔtant pas ɔl ɛn we spɛshal fɔ kɔnfɔm Kɔn-Rɔd Distrofi na Ilɛktrorɛtinografi. Dis na sɔm spɛshal tɛst. I de mɛzhɔ di ilɛktrik aktiviti we di retina de du dairekt wan. if CRD de, dis tεst kin no spεsifi k patεn dεm fכ aktiviti (כ lכk fכ aktiviti).

Apat frɔm dat, yu yay dɔktɔ kin tɛl yu fɔ tɛst yu jɛnɛtiks . dis na fכ si if yu gεt jin mכtεshכn we dεn no se de mek CRD. Dis impɔtant mɔ if pɔsin na yu fambul we de nia yu (mama, papa, brɔda ɛn sista, pikin dɛm) gɛt CRD, ɔ if yu gɛt risk fɔ pas di sik to yu pikin dɛm.

Wetin na di tritmɛnt dɛm fɔ dis? Yu tink se dɛn kin mɛn am?

Oh, fɔ bi ɔnɛs, naw, no mɛrɛsin nɔ de fɔ dis sik (Cone-Rod Dystrophy). Dis na di tin we rili sɔri.

Bɔt, nid nɔ de fɔ lɛ wi lɛf fɔ gɛt op kpatakpata. Di we aw dɛn de du tin naw na fɔ slo di sik ɛn trit ɛni sayn ɛn kɔmplikeshɔn we de kam. Yu yay dɔktɔ kin ɛp fɔ du dis. Dis kin inklud:

• Layt protɛkshɔn: If yu yuz sanglas, ayglas we gɛt tint, ɔ kɔntakt lens, dat kin ɛp fɔ ridyus di risk fɔ pwɛl di retina sɛl we yu de na layt.
• Fɔ kɔrɛkt yu yay: We di sik bigin, glas kin gi sɔm rilif we yu nɔ de si fayn.
• Di tin dɛn we de ɛp pipul dɛn fɔ si smɔl: Dɛn tin ya na tin dɛn we de ɛp pipul dɛn we nɔ de si bɛtɛ fɔ du ɛvride wok. Dɛn kin kɔmɔt frɔm simpul magnifying glas dɛn to ay-tek divays dɛn lɛk kɔmpyuta program dɛn we de rid skrin.
• Visual rehabilitation: Dis na spɛshal kayn trenin wae de tich yu aw fɔ bia wit ɛn du ɛvride woke wae yu nɔr de si fayn.
• Nutritional supliment: Dɛn biliv se sɔm vaytamɛn ɛn minral dɛm (maycronutrients) kin slo di prɔgrɛs fɔ CRD. Bɔt dɛn fɔ jɔs tek dɛn tin ya ɔnda dɔktɔ in advays . Yu dɔktɔ we de mɛn yu yay go tɛl yu uswan dɛn gud ɛn uswan dɛn bad.
• Mental wɛlbɔdi sɔpɔt:We yu nɔ de si fayn i kin rili strɛs ɛn mek yu fred . Bɔrku pipul dɛm wae gɛt CRD kin gɛt sɔm kayn sik lɛk fɔ wɔri ɔr pwɛl hat. So, fɔ go to saykayatrik advays ɛn sɔpɔt kin rili ɛp fɔ dil wit dɛn filin ya ɛn fɔ bia wit dɛn.

Yu tink se nyu tritmɛnt dɛn go de tumara bambay? (Stɔdi)

Naw, di wan dɛn we de du risach de chɛk if dɛn kin yuz jin tritmɛnt fɔ trit Kɔn-Rɔd Distrofi. Dat min se, di we dɛn we go kɔrɛkt di jin dɛn we nɔ fayn we wi bin tɔk bɔt.

Bɔt dɛn tritmɛnt ya stil de na di fɔs tɛm we dɛn de du di risach . Dis min se i go tek at le sɔm ia mɔ bifo wi go gɛt dɛn tritmɛnt ya. Dɔn bak, dɛn go jɔs kɔmɔt if dɛn stɔdi dɛn de sho se dɛn tritmɛnt ya nɔ bad ɛn dɛn go wok .

So, pan ɔl we i at fɔ gɛt bɔku op fɔ dɛn tritmɛnt ya dis tɛm, i impɔtant fɔ mɛmba se dɛn tritmɛnt ya kin gi sɔm rilif to pipul dɛn we gɛt CRD tumara bambay .

Wetin pɔsin we gɛt kɔn-rɔd distrofi (CRD) kin gɛt?

Di ifekt dɛm we CRD kin gɛt kin bigin we dɛn smɔl . Pikin dεm we gεt CRD kin gεt prכblεm fכ si bifo dεn rich 10. So, sכmtεm na skul ticha dεm na dεn fכs wan dεm fכ notis chenj na di pikin in vishכn.

Bɔrku pipul dɛm wae gɛt CRD kin lɔs dɛn vishɔn te dɛn blaynd bay lɔ we dɛn ol 20. Bɔt fɔ sɔm pipul dɛm, bikɔs di sik kin go sloslo ɔr di damej nɔr kin pasmak, i kin tek te dɛn 30 ɔr 40 ia fɔ rich dis stej.

Wetin na di lukin-grɔn fɔ dis sityueshɔn?

(CRD) nɔto sik we de mek pɔsin in layf de pan denja . Dat min se i nɔ de kil. Bɔt na sik we kin mek pɔsin gɛt bɔku prɔblɛm dɛn na layf ɛn leta i kin mek pɔsin gɛt disabled .

Bɔt yu kin lan fɔ liv wit pɔrsin wae nɔr de si fayn , mɔr lɛk wae dɔktɔ, sɔpɔt savis, ɛn ɔda tin dɛm ɛp yu.

Di tin we impɔtant pas ɔl na fɔ ɔndastand se nɔto yu wangren de. Nɔ fred fɔ aks fɔ ɛp.

Yu tink se we de fɔ mek dis nɔ apin?

As wi bin dɔn tɔk, Cone-Rod Dystrophy na wan sik we kin kam bɔku pan dɛn bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks . So, bay di infɔmeshɔn we de naw, no we nɔ de fɔ mek dɛn nɔ gɛt ɔ ridyus di risk fɔ gɛt CRD . Risach pipul dɛn stil de chɛk if ɔda tin dɛn de we kin mek pɔsin gɛt dis sik ɔ ɔda tin dɛn de we kin mek pɔsin gɛt dis sik.

If a gɛt CRD, aw a go tek kia ɔf misɛf?

If yu gɛt (CRD), i rili impɔtant fɔ go to yu yay spɛshal pɔsin ɔltɛm fɔ du ay ɛgzam.Dɔn i kin wach di chenj dɛn we de apin na yu yay, ajɔst di tritmɛnt we yu de gi yu, ɛn gi yu nyu tin dɛn.

Yu yay dɔktɔ ɛn ɔda pipul dɛn we de kia fɔ yu wɛlbɔdi biznɛs kin ɛp yu fɔ liv wit CRD. Dɛn kin ɛp yu fɔ ajɔst to am ɛn rɛdi fɔ tumara bambay. Dɛn kin mek yu no bak bɔt nyu tritmɛnt dɛn ɛn gi yu infɔmeshɔn.

Wetin a fɔ aks di dɔktɔ/madam?

We yu go to dɔktɔ, i go fayn fɔ mek yu aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Aw bɔku mi vishɔn dɔn go dɔŋ?
• Aw dis (CRD) sik go go bifo? Yu kin imajin aw lɔng i go tek?
• Yu tink se mi ɛn mi famili fɔ du jenɛtik tɛst fɔ no ustɛm DNA chenj mek dis?
• Wetin a kin du naw fɔ mek di sik nɔ go bifo kwik kwik wan?
• Ɛni program ɔ tin dɛn de we a go yuz fɔ ɛp mi fɔ ajɔst to di chenj dɛn we de apin naw ɛn fɔ rɛdi fɔ chenj dɛn tumara bambay?

Wae yu nɔr de si fayn bikɔs ɔf Cone-Rod Dystrophy, yu kin fil se yu nɔr de nia di wɔl ɛn ɔda pipul dɛm. Na nɔmal tin fɔ fil wɔri ɛn wɔri bɔt wetin go chenj tumara bambay.

Bɔt dis nɔto tin we yu fɔ gɛt fɔ bia wit yu wan . Yu yay dɔktɔ, ɔda dɔktɔ dɛn, ɛn spɛshal pipul dɛn go gi yu di kia, sɔpɔt, gayd, ɛn tin dɛn we yu nid. Nɔ fred fɔ aks dɛn fɔ ɛp. Dɛn go ɛp yu fɔ adap to ɛn bia wit di impak we yu nɔ de si fayn.

Fɔ dɔn, mɛsej we yu kin kɛr go na os:

Cone-Rod Dystrophy (CRD) na wan sik we de mek wi layf de pan denja we di sɛl dɛn na wi yay we dɛn kɔl kɔn ɛn rod kin pwɛl, ɛn smɔl smɔl i kin mek wi nɔ ebul fɔ si fayn igen. Bɔku tɛm, i kin kɔmɔt frɔm in jɛnɛtiks ɛn i kin bigin we i smɔl.

Pan ɔl we dɛn nɔr gɛt mɛrɛsin naw, bɔrku we dɛn de fɔ kɔntrol di sayn dɛm, fɔ slo di sik fɔ go bifo, ɛn ɛp yu fɔ liv wit yu yay we nɔr de si fayn.

If yu ɔ pɔsin we yu sabi gɛt dɛn sik ya, go to dɔktɔ we de mɛn yu yay wantɛm wantɛm . I rili impɔtant fɔ gɛt kɔrɛkt diagnosis ɛn gayd.

Mɛmba se nɔto yu wangren de. Gɛt di sɔpɔt ɛn ɛp we yu nid. Fɔ kɔntinyu fɔ tink gud wan rili impɔtant bak!