We yu luk yu smɔl pikin in yay, sɔntɛnde yu go de wɔnda if i de si tin fayn ɔ if sɔntin de we nɔ fayn na in yay. Ɛspɛshali bikɔs sɔm pikin dɛn kin bɔn wit sɔm we dɛn nɔ kin si fayn. dis kכndyushכn we nכ kin apin bכt imכtant dεn kכl am Leber congenital amaurosis. Lɛ wi tɔk bɔt am ditayli, nɔto so?
Wetin na Leber kɔnjɛnital amaurosis (LCA)?
Fɔ tɔk am simpul wan, Leber congenital amaurosis, ɔ LCA fɔ shɔt, na wan sik we nɔ kin apin so ɔltɛm. I kin afɛkt di retina, we na di insay layt na di yay, insay pikin dɛn. Tink bɔt di retina lɛk di fim we de insay kamɛra. Di tin dɛn we wi de si, dɛn rayt dɛn ya as pikchɔ. Di retina gɛt spɛshal sɛl dɛn we wi kin kɔl fotorɛsɛptɔ . Tu kayn sɛl dɛn de, stik ɛn kɔn . Rod dɛn kin ɛp wi fɔ si na nɛt ɛn na dak. Kɔn dɛn kin ɛp wi fɔ si di kɔlɔ dɛn ɛn si klia wan insay di de.
wetin kin apin to pikin we gεt `(LCA)` na di `(rods)` εn `(cones)` sεl dεm nכ de wok fayn fayn wan. Dat min se dɛn sɛl ya nɔ ebul fɔ sɛn di layt we de go insay di yay fayn fayn wan as ilɛktrik signal to di bren. as dis ilektrikal aktiviti de dכn, di pikin in vishכn de dכn bak. Sɔntɛnde, if ilɛktrik nɔ de atɔl, di pikin nɔ go ebul fɔ si atɔl.
Dis na wan sik we dɛn kin bɔn wit, we min se dɛn kin bɔn pikin dɛn wit am. Dɔktɔ dɛn se di pikin in yay kin bigin fɔ si smɔl smɔl we i ol 6 mɔnt . So, if yu notis ɛni chenj na yu pikin in yay, ɔ if yu fil se i nɔ ebul fɔ si tin, i bɛtɛ fɔ go to pɔsin we sabi bɔt yay kwik kwik wan.
Aw kɔmɔn dis (LCA) kɔndishɔn?
Naw yu kin de wɔnda aw dis sik kin kɔmɔn. I rili nɔ kin apin so ɔltɛm . Dɛn ripɔt se i kin apin to tu pikin dɛn nɔmɔ pan ɛvri 100,000. Dat na nɔmba we rili smɔl. Bɔt pan ɔl we i nɔ kin bɔku, dɛn dɔn no se na wan pan di men tin dɛn we kin mek yɔŋ pikin dɛn blaynd. So, pan ɔl we i nɔ kin apin so ɔltɛm, i impɔtant fɔ no bɔt dis.
Wetin na di sayn dɛm fɔ pikin we gɛt (LCA)?
Sɔntɛnde, i kin at fɔ mek mama ɛn papa dɛn no se smɔl pikin gɛt prɔblɛm wit in yay. Na bikɔs dɛn nɔ de tɔk. Bɔt pikin we gɛt `(LCA)` nɔ kin si fayn fayn wan, ɛn sɔntɛnde i nɔ kin si atɔl. Bikɔs dis sik kin afɛkt pikin dɛn we nɔ rich wan ia yet, sɔm sayn dɛn de we kin ɛp yu fɔ no am.
Wan pan di fɔs sayn dɛn we yu go notis na dat yu pikin de rɔb in yay ɔltɛm, lɛk se sɔntin de mɔna am. Dɛn kin gɛt bak fotophobia (aversion to light) . Dis min se dɛn kin swɛt ɔ kray we dɛn si layt ɔ go na say we brayt. Wan ɔda tin na dat yu kin notis se yu pikin indi yay dεm de muv kwik kwik wan bak εn go bifo lεk se dεn nכ kin kip dεn yay na wan ples (nystagmus). I tan lɛk se dɛn de shek shek.
Yu kin si dɛn tin ya bak:
- Keratoconus na wan kכndyushכn we di kכnia na di yay de chenj shep, i de bi kכn shep. Dis kin kɔmplikt smɔl, ɛn na dɔktɔ nɔmɔ go tɛl yu fɔ tru.
- Fɔ si fa (hyperopia).
- di we aw di pupil na di yay de ansa to layt tu smɔl, ɔ i nɔ tu smɔl. Yu si, nɔmal wan we yu kɔmɔt na say we brayt to ples we dak, di pupil na di yay kin big. Nɔto so i de wok.
If yu si sɔntin lɛk dis, nɔ panik ɛn go to dɔktɔ. Dɛn go tɛl yu di rayt tin we de apin.
Wetin mek dis (LCA) sityueshɔn kin apin?
Naw lɛ wi si wetin mek dis `(LCA)` de apin. di men rizin fכ dis na di jεnεtik chenj dεm, dat na `(jεnεtik mכtεshכn)` . yu no se כl wi kכntribyushכn dεm na di jin dεm (`jin`) we wi de gεt frכm wi mama εn papa. dis jin dεm na di sכm pat dεm na wi `DNA` . so, we dεn bכn pikin, if eni chenj כ difεkt de na di jin dεm na di mama in eg (`egg`) εn di papa in sεl (`sperm`), i kin pas to di pikin bak.
kכlכsכl 30 difrεn jin mכtεshכn dεm dεn dכn no we kin mek dis kכndyushכn, `(LCA). spεshal wan, di mכtεshכn dεm na di jin dεm we de εp di rεtina fכ divεlכp εn gro de afekt. fכ nem fכ, jin dεm lεk `(CEP290)`, `(CRB1)`, `(GUCY2D)`, `(RPE65)` de pan dεm.
כl di tεm dεm, `(LCA)` na `כtosomal rεsεsiv` kכndishכn. Yu no wetin na dat? dat min se di pikin go כnli gεt dis sik if in mama εn papa dεn tu kכri di jin we nכ de wok fayn (`altered gene`). Dɛn ɔl tu fɔ bi pipul dɛn we de kɛr di tin dɛn. Bɔt, dɛn ɔl tu nɔ nid fɔ gɛt sɔm sayn dɛn. Dɛn kin gɛt wɛlbɔdi, bɔt dɛn kin gɛt di jin we nɔ fayn na dɛn bɔdi. If dat apin, na lɛk 25% risk de fɔ mek pikin we dɛn bɔn go gɛt dis sik.
Imajin, if di mama ɛn papa ɔl tu gɛt dis jin we nɔ fayn, insay ɛni wan pan dɛn bɛlɛ, di pikin gɛt 1/4 chans fɔ gɛt LCA, 1/2 chans fɔ mek di pikin gɛt di pikin, ɛn 1/4 chans fɔ mek di pikin bɔn we nɔ afɛkt am.
Bɔrku pipul nɔr no se dɛn kin gɛt wan ɔtosomal rɛsɛsiv trayt bikɔs dɛn nɔr gɛt di sik. If yu gɛt pɔsin na yu famili we gɛt wan sik we de mek yu gɛt jɛnɛtiks, ɔ if yu de wɔri se yu pikin dɛn kin gɛt wan sik we dɛn kɔl jenɛtiks, i impɔtant fɔ tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt aw fɔ gi yu jɛnɛtiks .
Aw dɔktɔ dɛn kin no dis (LCA) sik?
Fɔ no fɔ tru if yu pikin gɛt `(LCA)` ɔ nɔ gɛt am, yu nid fɔ go to dɔktɔ we de mɛn yu yay. i go fכs egzamin di pikin in yay dεm fayn fayn wan, inklud di `rεtina` insay di yay. Dɔn, `ilɛktrorɛtinografi (ERG)`dis tεst de mכsu di ilektrikal aktiviti na di pikin in rεtina. Mɛmba se wi bin dɔn tɔk bɔt aw dis ilɛktrik wok impɔtant fɔ mek pɔsin si. sכmtεm dεn kin du wan skan we dεn kכl `optical coherence tomography (OCT)` bak. Dis kin tek klia pikchɔ fɔ di layers dɛn we de insay di yay.
Di dɔktɔ go mek shɔ bak se nɔ ɔda tin nɔ de we go de afɛkt di pikin in yay. Wi kin kɔl dis `difrɛns diagnosis` . Na bikɔs ɔda tin dɛn de we kin mek pɔsin ebul fɔ si tin. Fɔ ɛgzampul:
- `Retinitis pigmentosa` (dis na kכndyushכn bak we de afekt di rεtina)
- `Joubert sindrom`
- `Zelweger sindrom`
- Kɔlɔ blayndnɛs (`akromatopsia`) .
- Aylid we de drɔp (ptosis) .
Na afta we dכkta luk כl dis, na in dכkta kin kכnklud kכrekt wan se na `(LCA)`.
Wetin na di tritmɛnt dɛm fɔ (LCA)?
Infakt, naw nɔr gɛt mɛrɛsin fɔ di kɔndishɔn `(LCA)`. Bɔt nɔ wɔri. Dɔktɔ dɛn kin tray fɔ mek sɔm pan di pikin in yay fayn ɛn ɛp am fɔ liv fayn fayn wan. Bɔku tɛm dɛn kin yuz glas fɔ du dis . divais dεm de bak lεk `magnifying glasses` כ `reading prism` we kin εp dεn wan dεm we nכ de si sכmtεm.
Lɛ wi lan bak bɔt jin tɛrapi.
Dis na nyu tin smɔl. Insay 2017, di US Food and Drug Administration (FDA) bin gri fɔ mek dɛn yuz di fɔs jin tɛrapi fɔ trit di sik (LCA). Dis rili prɔmis. Bɔt naw, dɛn dɔn gri fɔ dis tritmɛnt fɔ pipul dɛn nɔmɔ we dɛn (LCA) kɔmɔt frɔm wan muteshon na di jin we dɛn kɔl RPE65 .
Fɔ tɔk am simpul wan, jin tɛrapi na di prɔses fɔ riples wan jin we de kɔz sik wit wɛlbɔdi jin. Ɔ, fɔ mek wan jin we de mek pɔsin sik nɔ wok. Di op na fɔ put wan wɛlbɔdi jin insay di sɛl dɛn ɛn rivɛns di sik. Pan ɔl we dis stil na tritmɛnt we dɛn de du risach, i kin bi gud sɔlv fɔ kɔndishɔn lɛk `(LCA)` tumara bambay.
Di dɔktɔ we de mɛn yu yay go tɛl yu if dis jin tɛrapi fayn fɔ yu pikin ɔ nɔ fayn fɔ yu pikin.
Yu tink se dɛn kin ebul fɔ stɔp LCA?
infakt, if pikin gεt jεnεtik mכtεshכn we de mek `(LCA)`, nכ we nכ de fכ mek i nכ apin. I nɔto sɔntin we wi go ebul fɔ kɔntrol. Bɔt lɛk aw a bin dɔn tɔk bifo tɛm, if yu gɛt ɛni dawt ɔ fred bɔt sik dɛn we yu gɛt frɔm yu jɛnɛtiks, i bɛtɛ fɔ mek yu gɛt kɔyl fɔ yu jɛnɛtiks bifo yu bɔn pikin ɔ we yu gɛt bɛlɛ. Dɔn yu kin ɔndastand klia wan bɔt di prɔblɛm dɛn we kin apin.
Wetin a kin ɛkspɛkt if mi pikin gɛt (LCA)?
I nɔmal fɔ fil bad ɛn fred we yu kam fɔ no se yu pikin gɛt `(LCA)`. bכku pikin dεm we gεt `(LCA)` kin lכs dεn vishכn kכmplit כ dεn kin rεdכks am bad bad wan. Na tru dat.
Bɔt, dat nɔ min se yu pikin nɔ go liv gladi, wɛlbɔdi layf. Yu pikin go nid fɔ de chɛk yu yay ɔltɛm fɔ chɛk if ɛni chenj de na in yay ɔ fɔ si if in yay de wɔs. Yu dɔktɔ go tɛl yu aw ɔltɛm yu fɔ du dɛn ɛgzam ya.
Di tin we impɔtant pas ɔl na fɔ gi yu pikin di sɔpɔt ɛn lɔv we i nid. Yu gɛt big wok fɔ du fɔ tich dɛn fɔ liv wit lɔw vishɔn ɛn ɛnkɔrej dɛn. Dɔn bak, luk insay institiushɔn ɛn skul dɛn we de ɛp dɛn kayn pikin dɛn de. I go rili ɛp dɛn fɔ mek dɛn tumara bambay go bifo.
Ustɛm a fɔ go to dɔktɔ?
A go mɛmba yu bak: If yu si ɛnitin we nɔ kɔmɔn na yu pikin in yay, ɔ if yu fil se i nɔ ebul fɔ si, go to dɔktɔ we de mɛn yu yay ɛn nɔ de te.
If yu dɔn no se yu pikin gɛt (LCA), ɛn yu notis se i de si chenj ɔ di sayn dɛn we de sho se i de wɔs, go to dɔktɔ wantɛm wantɛm.
Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?
We wi go to dɔktɔ, sɔntɛnde wi kin fɔgɛt wetin wi want fɔ aks. So, na sɔm kwɛstyɔn dɛn we go ɛp yu:
- Mi pikin rili gɛt `Leber in congenital amaurosis (LCA)`?
- Us jɛnɛtik chenj bin mek dis apin? (If yu kin no am)
- Us ɔda tɛst dɛn a nid fɔ mi pikin?
- Aw i go bi se i go lɔs in yay?
- Mi pikin fit fɔ gɛt jin tɛrapi?
I go rili impɔtant fɔ mek yu yɛri ɛn no tin dɛn lɛk dis.
Yu tink se link de bitwin LCA ɛn Ɔtizm Spɛktrum Disɔda?
Dis na prɔblɛm bak fɔ sɔm mama ɛn papa dɛn. `(LCA)` εn ``Autism Spectrum Disorder (ASD)` na tu kכndyushכn dεm we de afekt pikin in divεlכpmεnt. `(LCA)` de afekt di retina na di yay, `(ASD)` na ``nyurodivεlכpmεnt dizכrd``.
Sɔm stɔdi dɔn sho se link de bitwin pikin dɛn we gɛt LCA ɛn ASD. Bɔt dis nɔ min se ɔl pikin we gɛt LCA go gɛt ASD. If yu want fɔ no mɔ bɔt dis, i go fayn fɔ mek yu tɔk to yu dɔktɔ.
Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .
Okay, so mek a tɛl yu sɔm pan di impɔtant tin dɛn we wi dɔn tɔk bɔt fɔ ɛp yu fɔ mɛmba dɛn.
Leber in congenital amaurosis (LCA) na wan jεnεtik kכndyushכn we nכ kin apin we kin mek pikin dεn lכs vishכn biכs di sεl dεm na dεn rεtina nכ de wok fayn.
If dɛn no se yu pikin gɛt (LCA), i go mɔs bi se i nɔ go ebul fɔ si igen. Bɔt dat nɔ min se i nɔ go ebul fɔ liv gladi ɛn wɛlbɔdi layf.
Dis kin bi bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks. If yu gɛt ɛnitin fɔ wɔri bɔt ɔ dawt bɔt dis, i rili impɔtant fɔ go to yu jenɛtik kɔyl.
Di tin we impɔtant pas ɔl na fɔ go to dɔktɔ we de mɛn yu pikin jɔs lɛk aw yu notis ɛni chenj na yu pikin in yay.Dɔn yu kin gɛt di tritmɛnt ɛn sɔpɔt we yu nid kwik kwik wan. Yu dɔktɔ go ɛksplen ɔltin to yu, ivin aw ɔltɛm yu pikin nid fɔ chɛk in yay ɛn wetin yu kin du fɔ protɛkt in yay.
Mɛmba se nɔto yu wangren de. Dɔktɔ, advays, ɛn sɔpɔt grup dɛn de fɔ ɛp yu pan dis waka.
` Leiber congenital amaurosis, LCA, infantil blayndnes, retina, jεnεtik mכtεshכn, vishכn lכs, ay sik dεm
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