Yu pikin gɛt prɔblɛm fɔ yɛri ɛn fɔ si? Yu tink se na Usher Syndrome?

As mama ɛn papa, wi big drim na fɔ si wi pikin dɛn gɛt wɛlbɔdi ɛn gladi at. Bɔt sɔntɛnde, pikin dɛn kin gɛt wɛlbɔdi prɔblɛm dɛn we wi nɔ kin tink se go apin. Imajin se yu smɔl pikin nɔ de ansa bɛtɛ to sawnd frɔm di de we dɛn bɔn am. Ɔ we i ol smɔl, yu kin no se i nɔ kin izi fɔ am fɔ fɛn tin dɛn na say dɛn we nɔ gɛt layt na nɛt ɛn fɔ waka. Na nɔmal tin fɔ fil bɔrku frayd ɛn wɔri wɔri tɛm lɛk dis. Tide, wi go tɔk bɔt wan sik we nɔ kin apin so ɔltɛm we kin mek pɔsin gɛt prɔblɛm wit pɔsin we de yɛri ɛn si di sem tɛm, bɔt dɛn nɔ kin tɔk bɔt am bɔku tin na wi sosayti. Dat na di sik we dɛn kɔl 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 we kin afɛkt di we aw pikin de yɛri ɛn si mɔ. Sɔntɛnde, i kin afɛkt bak di we aw di bɔdi de balans. dis kin kכz fכ sכm chenj (mכtεshכn) dεm na sכm jin dεm we de εp fכ yεri εn vishכn fכ divεlכp we di pikin stil de na di bεlε. Bɔrku tɛm dis kin bi wan sik wae dɛn kin bɔn wit, ɔr di sayn dɛm kin bigin fɔ sho wae dɛn smɔl. Bɔt, na smɔl tɛm nɔmɔ, pipul dɛn kin de we kin sho di sik leta na dɛn layf.

Dis na tin we nɔ kin apin so ɔltɛm. I kin afɛkt bitwin 3 ɛn 6 pan ɛvri 100,000 pipul dɛn ɔlsay na di wɔl. Pan ɔl we no mɛrɛsin nɔ de naw, bɔku we dɛn de fɔ kɔntrol di sik dɛn ɛn ɛp di pikin fɔ liv gud layf.

Wetin na di men kayn Usher Syndrome?

Dɛn dɔn no bɔku tin dɛn we kin mek pɔsin gɛt dis sik. Di kayn sik kin difrɛn difrɛn wan bay aw dɛn jin ya kam togɛda. Bɔt ɔl dɛn kayn tin ya kin afɛkt di we aw pɔsin de yɛri, si, ɛn balans. Di men difrɛns na di tɛm we i kin tek fɔ mek di sik bigin ɛn aw dɛn kin tranga. Lɛ wi tek wan luk pan dɛn tri men kayn dɛn ya.

A mek dis tebul fɔ mek i izi fɔ ɔndastand dis infɔmeshɔn.

Wetin na di men sayn dɛm wae dɛn kin si pan dis sik?

Pan ɔl we di sik kin difrɛn difrɛn wan bay di kayn Usher Syndrome, sɔm tin dɛn de we kin apin.

• Dɛn nɔ de yɛri fayn: Sɔm pikin dɛn kin bɔn we dɛn dɛf ɔl. Ɔda wan dɛn nɔ kin yɛri fayn. Sɔm pikin dɛn nɔ de yɛri fayn smɔl smɔl as dɛn de ol.
• Yu nɔ de si fayn: Dis kin apin bikɔs ɔf retinitis pigmentosa (RP), we na wan sik we de na di retina na di yay. dis kin bi we di sεl dεm we de sεnsitiv layt (rod εn kכn) na di yay de pwεl sכmtεm sכmtεm.
• Di fɔs sayn: I nɔ de si fayn na nɛt ɔ we layt nɔ de shayn ( nayt blayndnɛs ). Fɔ ɛgzampul, i nɔ kin izi fɔ pikin fɔ waka insay os ɔ fɔ fɛn tɔys we di layt nɔ bɔku na ivintɛm.
• Leta: As di sik de go bifo, di periferik vishɔn nɔ de igen. Dis min se yu kin si stret bifo, bɔt nɔto to di sayd dɛn. Dɛn kin kɔl dis bak ‘tanɛl vishɔn’ . I kin tan lɛk se yu de luk tru wan lɔng tiub. As tɛm de go, dis sik kin go bifo te i blaynd ɔl.
• Di tin dɛn we gɛt fɔ du wit balans: Mɔ pikin dɛn we gɛt Tayp 1 kin gɛt prɔblɛm fɔ mek dɛn balans. Dis kin mek dɛn bigin sidɔm, tinap, ɛn waka leta pas ɔda pikin dɛn.

Wetin kin mek pɔsin gɛt Usher Syndrome?

Dis na wan sik we kɔmɔt frɔm ɔl in jɛnɛtiks. Lɛ wi ɔndastand dis smɔl mɔ simpul wan.

Imajin se di mama ɛn di papa ɔl tu gɛt dis jin we nɔ fayn, bɔt dɛn nɔ gɛt ɛni sayn. Wi de kol dem ‘carriers’. Na dis na wetin kin apin we tu mama ɛn papa gɛt pikin:

• 25% (wan pan 4) chans de fɔ mek pikin gɛt di sik (if in mama ɛn papa ɔl tu gɛt di jin we nɔ fayn).
• 50% (tu pan fכ) chans de fכ di pikin bak go bi ‘kכriכg' we nכ gεt simptom (if wan mama εn papa gεt di jin we nכ de wok fayn εn di כda wan gεt di hεlty jin).
• di pikin gεt 25% (wan pan fכ) chans fכ hεlth kכmplit, we i nכ gεt dis sik כ di jin we nכ de wok fayn.

Dɛn chenj ya we de apin na di jɛnɛtiks kin mek di nɛv sɛl dɛn na di kɔklia we kin kɛr sawnd wev dɛn go na di bren nɔ de wok fayn, ɛn dis kin mek i nɔ de yɛri fayn. כlso, di chenj dεm we de apin na di jin dεm we de mek sεl dεm we de mek layt sεnsitiv na di rεtina na di yay de mek rεtinitis pigmentosa, we de mek i nכ de si fayn fayn wan.

Aw fɔ no bɔt dis sik?

Di we aw dɛn kin no di sik kin difrɛn difrɛn wan bay di sayn dɛm we di pikin gɛt ɛn di ej we i ol.

Bɔku tɛm, na ɔl di ɔspitul dɛn na Sri Lanka, dɛn kin du nyu bɔbɔ we dɛn bɔn pikin fɔ yɛri . If di dɔktɔ tink se di pikin gɛt ɛnitin we nɔ de yɛri fayn, dɛn go sɛn am fɔ mek dɛn du ɔda tɛst dɛn.

If yu tink se yu pikin gɛt prɔblɛm fɔ yɛri ɔ si, yu fɔ go to dɔktɔ we de mɛn pikin dɛn kwik kwik wan. I go chɛk di pikin ɛn sɛn am to spɛshal pipul dɛn if nid de.

• Test fɔ yɛri: Wan spɛshal pɔsin we sabi bɔt yes, nos, ɛn trot (ENT spɛshal) ɛn ɔdiɔlɔjis kin du difrɛn tɛst fɔ yɛri fɔ no aw di pikin kin yɛri fayn ɛn us kayn sawnd dɛn i nɔ kin yɛri.
• di tεst dεm fכ si: Wan כftalmכlכg go egzamin di pikin in yay fכ chεk fכ sayn dεm fכ rεtinitis pigmentosa na di rεtina. Dɛn go du tɛst bak fɔ no aw pɔsin de si di say we dɛn de si.
• Jɛnɛtik tɛst dɛn:If yu sɔspɛkt se yu gɛt Usher Syndrome bay yu simptom dɛm, di bɛst we fɔ kɔnfɔm am definitiv wan na fɔ du jenɛtik tɛst. Dis kin ɛp bak fɔ no di patikyula jɛnɛtik muteshɔn we de mek di sik.

Wetin na di tritmɛnt ɛn di we aw fɔ mɛn dis?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di Usher Syndrome. Bɔt bɔku we dɛn de fɔ kɔntrol di sik dɛn ɛn mek di pikin gɛt bɛtɛ layf. Di tritmɛnt plan kin difrɛn frɔm wan pikin to ɔda pikin, i kin dipen pan dɛn kɔndishɔn.

• Kɔklia implant: Dis kin rili ɛp pikin dɛn we dɛn bɔn wit siriɔs yɛri lɔs. Dis na ilɛktronik tin we dɛn kin du ɔpreshɔn pan insay di yes. I de dayrɛkt sawnd wev dɛn dairekt to di ɔditory nerve, we de mek di pikin ebul fɔ ɛkspiriɛns di wɔl fɔ sawnd.
• Ɛp fɔ yɛri: Dɛn kin yuz ɛp fɔ yɛri fɔ pikin dɛn we nɔ de yɛri fayn. Dɛn tin ya impɔtant mɔ fɔ pikin dɛn we gɛt Tayp 2 ɔ 3, we kin lɛf fɔ yɛri we dɛn de ol.
• Di tin dɛn we de ɛp pɔsin fɔ si: Difrɛn tin dɛn de we kin ɛp fɔ kɔntrol di prɔblɛm dɛn we pɔsin kin si. Fɔ ɛgzampul, glas dɛn we gɛt spɛshal lens dɛn we de filta layt, magnifying glas, ɛn ɔda tin dɛn.
• Ali intavɛnshɔn savis dɛm: Dis rili impɔtant . If dɛn no di sik kwik kwik wan na di pikin in layf, dɛn kin bigin di spɛshal savis dɛm we dɛn nid kwik kwik wan.
• Tɛrapi fɔ tɔk
• Fɔ tich sayn langwej
• Fɔ tich Brel
• Speshal we fɔ tich pipul dɛn
• Fisiotɛrapi ɛgzampul dɛn we de mek di bɔdi balans fayn

Ɔl dis kin gi di pikin bɔku trɛnk fɔ mek i ebul fɔ du ɔl wetin i ebul fɔ du ɛn fɔ ebul fɔ bia wit di prɔblɛm fayn fayn wan na di sosayti.

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 fɔgɛt fɔ aks dɛn kwɛstyɔn ya we yu go si yu dɔktɔ.

• Us kayn Usher Syndrome mi pikin gɛt?
• Us tritmɛnt ɛn we fɔ mɛn di sik yu kin advays?
• Yu tink se mi pikin go lɔs in yay kpatakpata as tɛm de go?
• Us spɛshal pipul dɛn, tritmɛnt pipul dɛn, ɔ ɔganayzeshɔn dɛn de we go ɛp mi pikin wit dis sik?
• Wi (mama ɛn papa) kin tɛst bak fɔ si if wi gɛt di jin dɛn we gɛt fɔ du wit dis?

As mama ɔ papa, yu kin fil lɛk se yu wan de go tru dis waka. Bɔt mɛmba se nɔto yu wangren de. Yu kin gɛt sɔpɔt bak frɔm yu pikin in dɔktɔ, tritmɛnt pipul, ticha, ɛn ɔda mama ɛn papa dɛn we dɔn gɛt di sem tin. If dɛn de manej am fayn ɛn kia fɔ am wit lɔv, pikin we gɛt Usher Syndrome kin liv gladi, sakrifays layf lɛk ɛni ɔda wan.