Yu dɔn ɛva notis se yu smɔl pikin nɔ de yɛri fayn smɔl? Sɔntɛm dɛn bigin fɔ waka leta smɔl pas ɔda bebi dɛn? Dɔn, as dɛn de ol, yu notis se dɛn kin gɛt prɔblɛm fɔ si na smɔl layt na nɛt? If pas wan pan dɛn prɔblɛm ya, de kɔz kin difrɛn frɔm aw yu tink. Tide wi de tɔk bɔt wan rare kɔndishɔn wae kin afɛkt ɔl tri pan dɛn wan ya: fɔ yɛri, fɔ si, ɛn sɔmtɛm fɔ balans, bɔt dɛn nɔr kin tɔk bɔt am bɔrku na sosayti. Dɛn kɔl dis Usher Syndrome.
Wetin rili na Usher Syndrome?
Fɔ tɔk am simpul wan, Usher syndrome na wan sik we dɛn kin gɛt frɔm dɛn mama ɛn papa. I kin mek sɔm pipul dɛn nɔ de yɛri fayn, dɛn nɔ kin si fayn, ɛn dɛn nɔ kin ebul fɔ balans. Tink bɔt am lɛk wan bluprint fɔ aw wi bɔdi go gro. Dis kכndyushכn de kכz fכ wan rili sכm chenj na dεn jin dεm, we dεn kכl mכtεshכn. fכ dis jεnεtik chenj, di כgan dεm we de fכ yεri εn vishכn nכ de divεlכp fayn we di pikin de gro insay di bεlε.
di sayn dεm fכ dis kכndyushכn kin de we dεn bכn am (we dεn bכn am) כ i kin bigin fכ sho we i sכm pikin. Na smɔl tɛm nɔmɔ, di sayn dɛn kin apin we pɔsin dɔn big. Naw, no mɛrɛsin nɔ de fɔ dis sik. Bɔt nɔ wɔri. Bɔrku we fɔ kɔntrol dɛn sik ya ɛn ɛp yu pikin fɔ liv fayn layf.
Yu tink se difrɛn kayn dis de?
Yɛs, na lɛk 10 tin dɛn de we dɛn no se na di jɛnɛtiks chenj dɛn we kin mek i apin. Dɛn sheb di Usher syndrome to tri men kayn, i dipen pan aw dɛn put dɛn jin ya togɛda. Ɔl dɛn kayn tin ya kin mek yu gɛt prɔblɛm wit yu yɛri, si, ɛn balans. Bɔt di men difrɛns bitwin dɛn na di tɛm we di sik kin bigin ɛn aw dɛn kin tranga.
Fɔ mek i izi fɔ ɔndastand, lɛ wi luk dis na tebul .
| Kayn | Prɔblɛm fɔ yɛri | Prɔblɛm dɛn fɔ balans | Prɔblɛm dɛn we pɔsin kin gɛt we i de si |
|---|---|---|---|
| Tayp 1 | I nɔ kin yɛri bad bad wan ɔ i kin dɛf ɔl we dɛn bɔn am. | I de de we dɛn bɔn am. Dis kin mek i delay fɔ bigin waka. | I kin bigin we i smɔl. Fɔs, i nɔ kin si bɛtɛ na nɛt, bɔt as tɛm de go i kin wɔs. |
| Tayp 2 we de na di wɔl | Modaret ɔ siriɔs yɛri lɔs we dɛn bɔn am. | Nɔ, dɛn balans na nɔmal tin. | Bɔku tɛm, i kin bigin pan yɔŋ pipul dɛn. Vishɔn kin wik as tɛm de go. |
| Tayp 3 we yu de du | Fɔ yɛri na nɔmal tin we dɛn bɔn am. Smɔl smɔl di we aw pɔsin kin yɛri kin bigin fɔ go dɔŋ we i smɔl . | Na lɛk af pan pipul dɛm wae gɛt dis kayn sik kin gɛt prɔblɛm wit balans. | Fɔ si tin na nɔmal tin we dɛn bɔn am. Di vishɔn kin bigin fɔ go dɔŋ we i yɔŋ ɔ we i ol lɛk 19 ia . |
Dis nɔto tin we kin apin to pipul dɛn na Sri Lanka. I kin afɛkt bitwin 3 ɛn 6 pan ɛvri 100,000 pipul dɛn ɔlsay na di wɔl.
Wetin na di men sayn dɛm fɔ dis sik?
Naw lɛ wi tɔk bɔt dɛn sik ya smɔl smɔl.
- Dɛn nɔ de yɛri fayn: Sɔm pikin dɛn kin bɔn dɛf ɔ dɛn nɔ kin yɛri fayn. Fɔ ɔda pipul dɛn, dɛn kin bigin fɔ yɛri smɔl smɔl as dɛn de ol.
- Yu nɔ de si fayn: Dis kin apin bikɔs ɔf wan sik we dɛn kɔl Retinitis Pigmentosa (RP) . Fɔ tɔk am simpul wan, na di pwɛl pwɛl we di sɛl dɛn (rɔd ɛn kɔn) we de na di retina na wi yay de pwɛl smɔl smɔl.
- Di fɔs sayn: yu kin blaynd na nɛt. Di nɔ ebul fɔ si tin klia wan na nɛt, na say dɛn we nɔ gɛt layt.
- di nεks stej: Narכw di fil fכ vishכn (tכnel vishכn). I tan lɛk se yu de luk tru wan tanɛl, wit jɔs stret-ahead vishɔn ɛn nɔ periferik vishɔn. As tɛm de go, dis sik kin tranga ɛn mek i blaynd ɔl.
- Di prɔblɛm dɛn we gɛt fɔ du wit balans: Dis kin afɛkt pikin dɛn mɔ we gɛt Tayp 1. Di pat dɛn na wi insay yes we de ɛp fɔ kɔntrol wi balans kin pwɛl. Dis kɔndishɔn kin mek dɛn pat ya pwɛl. Dis na di rizin we mek dɛn pikin ya kin tek sɔm tɛm fɔ lan aw fɔ waka. Dɛn kin fil lɛk se dɛn de fɔdɔm ɔltɛm.
Wetin mek dis de apin? Wetin na di rizin?
As wi bin dɔn tɔk, dis na kɔmplit jenɛtik kɔndishɔn. dis patεn fכ inhεrit dεn kכl am כtosom rεsεsiv patεn . Dis min se fɔ mek di pikin gɛt dis sik, di pikin fɔ gɛt di jin we nɔ fayn frɔm di mama ɛn papa .
Imajin, if di pikin gɛt di jin we nɔ fayn frɔm di mama nɔmɔ ɛn di wɛlbɔdi jin frɔm di papa, di pikin nɔ go gɛt di sik. Bɔt di pikin go bi pɔsin we de kɛr di jin we nɔ fayn. Pan ɔl we i nɔ go gɛt di sik, i kin pas di jin to in pikin dɛn.
Fɔ tɔk am simpul wan, if di mama ɛn papa ɔl tu gɛt dis jin, 1 pan 4 (25%) chans de fɔ mek dɛn pikin gɛt di sik wit ɛni bɛlɛ. 2 pan 4 (50%) chans de fɔ mek di pikin bi pɔsin we de kɛr am. 1 pan 4 (25%) chans de fɔ mek dɛn bɔn di pikin wɛl ɛn nɔ gɛt ɛni prɔblɛm.
Aw a go no if a gɛt dis sik?
Di we aw dɛn kin no di sik kin difrɛn fɔ di pikin in sik ɛn di kayn sik.
Imajin, if dɛn no se yu pikin nɔ de yɛri fayn we dɛn de du di nyu bɔbɔ we dɛn de du di ɔspitul jɔs afta dɛn bɔn am, di dɔktɔ dɛn go du ɔda tɛst fɔ no bɔt di prɔblɛm. Dɔn, if dɛn tink se di sik we dɛn kɔl Usher syndrome, dɛn kin se dɛn fɔ du tɛst fɔ di jenɛtiks .
If yu pikin sho se i de yɛri ɔ si prɔblɛm as i de ol, yu famili dɔktɔ (pikin dɔktɔ) go rifer yu to spɛshal dɔktɔ dɛn.
- Tεst dεm fכ yεri: Wan otolaryngologist εn wan כdiolojist de wok tכgeda fכ du difrεn tεst dεm fכ no di lεvεl we di pikin de yεri.
- Test fɔ si: Wan dɔktɔ we de mɛn di pikin go chɛk di pikin in yay, mɔ fɔ chɛk if di retina dɔn pwɛl, lɛk retinitis pigmentosa. Dɛn go du tɛst bak fɔ no aw pɔsin de si di say we dɛn de si.
Wetin na di tritmɛnt dɛm fɔ dis?
Pan ɔl wae dis sik nɔr kin wɛl ɔl, bɔrku tin de wae yu kin du fɔ kɔntrol de sik. Dɔktɔ dɛn kin plan di tritmɛnt bay di pikin in kɔndishɔn, in ej, ɛn aw i siriɔs.
- Kɔklia implant: Dɛn kin ɛp pikin dɛn we dɛn bɔn wit siriɔs yɛri lɔs fɔ yɛri sawnd wit dis divays, we dɛn kin ɔspitul insay di yes.
- Ɛp fɔ yɛri: Dɛn tin ya rili fayn fɔ pikin dɛn we nɔ de yɛri fayn.
- Di tin dɛn we de ɛp pɔsin fɔ si: Dɛn kin yuz glas dɛn we gɛt spɛshal lens dɛn we de filta layt, ɛn tin dɛn we de mek di layt big.
- Ali intavɛnshɔn savis dɛm: Dis rili impɔtant. If yu bigin fɔ trit pikin fɔ tɔk, fɔ tek yu bɔdi, ɛn fɔ tren yu sayn langwej we i yɔŋ, dat kin ɛp am bad bad wan fɔ mek i gro fayn.
Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ
Na nɔmal tin fɔ gɛt bɔrku kwɛstyɔn wae yu lan bɔt dis kayn sik wae nɔr kin bɔrku. Nɔ fred ɔ shem fɔ tɔk bɔt ɔl dis wit yu dɔktɔ. Na sɔm kwɛstyɔn dɛn we yu kin aks:
- "Aw many kayn Usher syndrome mi pikin gɛt?"
- "Us tritmɛnt dɛn yu kin rɛkɔmɛnd?"
- "I pɔsibul se mi pikin go lɔs in vishɔn kpatakpata as tɛm de go?"
- "Dɛn kin tɛst mi fɔ si if mi ɔ mi man ɔ wɛf gɛt di jenɛtik muteshon we de mek dis?"
Wi de si, yɛri, ɛn balans na tri pan di men sɛns dɛm we wi de yuz fɔ intarakt wit di wɔl. So as mama ɔ papa, i nɔmal fɔ mek yu wɔri, fil bad, ɛn fred we yu kam fɔ no se yu pikin de lɔs dɛn tin ya. Bɔt mɛmba se nɔto yu wangren de. Bɔku mɛrɛsin, sɔpɔt savis, ɛn program dɛn de we go ɛp yu pikin. Yu dɔktɔ ɛn yu mɛdikal tim go ɔndastand aw yu de fil ɛn gi yu di gayd we yu nid.
Mɛsej we dɛn kin kɛr go na os
- Usher Syndrome na wan sik wae de kam wit jεnεtiks wae de afekt yu yεri, si, εn sכmtεm bεlε.
- Tri men kayn dis de, ɛn di tɛm we di sik kin bigin ɛn aw i kin tranga kin difrɛn akɔdin to dat.
- Pan ɔl we nɔr kɔmplit mɛrɛsin fɔ dis, kɔklia implant, ɛp fɔ yɛri, ɛn difrɛn sɔpɔt savis kin ɛp fɔ kɔntrol di sayn dɛm ɛn liv gud layf.
- Fɔ no di sik kwik kwik wan ɛn fɔ bigin di trenin ɛn tritmɛnt we nid fɔ de, rili impɔtant fɔ di pikin in fiuja.
- If yu tink se yu pikin gɛt dis sik, go to yu famili dɔktɔ wantɛm wantɛm ɛn gɛt riferal to spɛshal pɔsin. Nɔ fred fɔ aks yu dɔktɔ ɔl yu kwɛstyɔn dɛn.
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