Yu de wɔri bɔt yu smɔl pikin in yay? Lɛ wi lan bɔt Norrie Disease.

Wi kin rili gladi we wi luk pikin we dɛn jɔs bɔn in yay, nɔto so? Bɔt sɔntɛnde, wi kin gɛt smɔl dawt se sɔntin de we nɔ fayn wit dɛn yay dɛn de. Tide wi go tɔk bɔt wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl ‘Norrie Disease’, we nɔ kin afɛkt pikin in yay nɔmɔ, bɔt i kin afɛkt bɔku ɔda tin dɛn bak. Nɔ fred we yu yɛri dis, lɛ wi ɔndastand am simpul wan.

Wetin na Nɔri Sik? Fɔ tɔk am simpul wan...

Nɔris sik na wan sik we pɔsin kin gɛt frɔm in yay . insay dis, di pat pan di pikin in yay we dεn kכl di rεtina, εn di bכdi we de kכnεkt to am, nכ de divεlכp fayn. Yu no se di retina na wan tin we de biɛn wi yay we de wok lɛk di fim we de na kamɛra. Dis na di tin we de no layt ɛn kɔlɔ ɛn sɛn mɛsej to di bren, we na di tɛm we wi de si.

pan pikin we gεt Norris sik, di rεtina nכ de divεlכp fayn, so i kin kכmכt frכm di yay. Dis kin mek blɔd kɔmɔt insay di yay. dis kin mek di retina bi fibrous εn i nכ kin ebul fכ wok fayn fayn wan. Bɔku tɛm, dis sik kin mek di pikin blaynd ɔltogɛda we dɛn bɔn am ɔ insay di fɔs mɔnt dɛn we i de liv. Pan ɔl we sɔm pikin dɛn kin si sɔm layt we dɛn bɔn dɛn, bɔku pan dɛn nɔ kin si na wan ɔ ɔl tu yay we dɛn bɔn dɛn.

di imכtant tin na dat dis jεnεtik mכtεshכn we de afekt di vish כn kin afekt כda fכshal divεlכpmεnt dεm bak na di pikin. So, Nɔri in sik nɔr kin jɔs bi wae pɔrsin nɔr kin si fayn fayn wan.

Us ɔda sayn dɛm wae yu kin si pan Norrie in sik?

Wae yu nɔr de si fayn na di men sayn. Bɔt pikin dɛn we gɛt di sik we dɛn kɔl Norrie’s disease kin gɛt dɛn tin ya bak:

• Yu nɔ de yɛri fayn: Nɔris sik kin afɛkt bak di divɛlɔpmɛnt na di insay yes. So, i kin bigin fɔ yɛri smɔl smɔl we i smɔl ɛn i kin bɔku smɔl smɔl. Yu kin gɛt bak wan ring na yu yes (tinnitus). Sɔm pipul dɛn kin dɔn rili ridyus di yɛri we dɛn ol 35 ia.
• Di chenj we di pikin de biev: Dis sik kin afɛkt di we aw pikin de biev bak. fכ egzampl, dεn kin si wan kכndyushכn we dεn kכl Pseudobulbar affect'' (dεn kin at fכ kכntrכl fכ laf εn kray) pan lεk wan pan fכ pipul dεm we gεt Norris syndrome.
• dilay we dεn de divεlכp: sכm pikin dεm εn pikin dεn kin tek lכng tεm fכ rich di divεlכpmεnt maylston dεm lεk fכ sidon εn waka.
• Ɔtizm spɛktrum disɔda: Na lɛk wan pan ɛvri 4 pipul dɛm wae gɛt Norris syndrome kin sho sayn dɛm fɔ ɔtizm.
• Di sik wae kin kam pan pɔrsin wae gɛt dis sik: Pan ɔl wae i nɔr kin bɔrku lɛk ɔda kayn sik, lɛk wan pan ɛvri tɛn pipul dɛm kin gɛt dis maynia sik.
• Pɛriferal vaskyuɛl sik: .Sɔm pipul dɛn kin gɛt prɔblɛm wit di blɔd we de go ɔlsay, lɛk we dɛn kin gɛt ɔlsa na dɛn venɔs.

Impɔtant: Nɔto ɔl pikin go gɛt ɔl dɛn sik ya. Ivin pikin dɛn we de na di sem famili kin gɛt difrɛn sayn dɛn. So, ɛni pikin nid fɔ kia fɔ insɛf.

Aw kɔmɔn tin fɔ Norovirus? Udat kin gɛt am?

Nɔris sik na sik we nɔ kin bɔku. I kin afɛkt lɛk wan pan ɛvri milyɔn pipul dɛn.

Dis kin afɛkt bɔy pikin dɛn mɔ. Gɔl pikin dɛn nɔ kin gɛt dis sik. Ivin if dɛn du dat, di sayn dɛn nɔ kin rili smɔl. I nɔ de tɔk bɔt ɛni trayb ɔ trayb.

Us sayn dɛm dɔktɔ kin si pan Norrie in sik?

We dɛn de chɛk di yay, dɔktɔ we de mɛn di yay kin notis bɔku sayn dɛn we gɛt fɔ du wit di sik we dɛn kɔl Nori. Dɛn tin ya na:

• Wan yɔlɔ-grey mas na di bak pat pan di yay (Pseudoglioma). Dis kin bi bikɔs ɔf wan retina we nɔ de divɛlɔp fayn.
• Di retina we de kɔmɔt na di bɔdi.
• di kכnia na di yay de wayt (Leukocoria).
• Di blak ring we de na di yay dɔn big.
• di ayris haypoplasia na di כnda divεlכpmεnt fכ di ayris.
• Di katarakt de atak di lens ɔ di kɔnia.
• di yay dεm we sכm pas nכmal saiz (Microphthalmia).
• Inkrεs intraokular prεshכn. Dis kin mek yu yay fil pen.
• Vitreous hemorrhage we de kɔmɔt na di bɔdi.
• Klaud na di lens na di yay (katarakt).
• di shrink we di yay de shrink we yu nכ de si (Phthisis bulbi).

Nɔto ɔl dɛn sayn ya kin apin wan tɛm. Sɔm kin si sɔm pan dɛn we dɛn bɔn dɛn, ɛn ɔda wan dɛn kin apin afta sɔm mɔnt ɔ ivin sɔm ia.

Wetin na di sayn dɛm we di pikin de gɛt?

De sayn dɛm fɔ Norris sik kin difrɛn bad bad wan fɔ di kayn sik. Ay pen na kɔmɔn sayn fɔ sɔm pikin dɛn bikɔs ɔf di prɛshɔn we de go ɔp insay di yay, bɔt dis nɔ kin rili kɔmɔn. Sɔntɛnde, di kalsiɔm we de na di kɔnia na di yay (band keratopathy) kin mek pɔsin fil pen ɛn nɔ fil fayn. Yu pikin in yay dɔktɔ go de chɛk di prɛshɔn we de na in yay ɔltɛm.

Ɔda sayn dɛm kin gɛt fɔ du wit wae pɔrsin nɔr de yɛri fayn ɛn ɔda tin dɛm wae gɛt fɔ du wit dis. Tɔk to yu pikin in mɛdikal tim fɔ no ustɛm yu fɔ wɔri bɔt.

Wetin kin mek pɔsin gɛt Norrie sik?

Nɔris sik kin kam bikɔs ɔf wan jenɛtik chenj . di spεsifi k jin we de afekt dis na di NDP jin. dis NDP jin de instrakt wi bכdi fכ mek wan protin we dεn kכl Norrin. dis Norrin protin rili imכtant fכ sεl signal εn sεl spεshalization. Na mɔ, Nɔrin de ɛp wi retina fɔ divɛlɔp fayn fayn wan. i de εp bak fכ fכm di bכdi vεsul dεm we de gi bכdi to di rεtina εn pat dεm na di yes (Angiogenesis).

we mכtεshכn de na di NDP jin, di Norrin protin nכ de wok fayn fayn wan. Dɛn kayn we ya we pɔsin kin chenj in jɛnɛtiks kin mek pɔsin gɛt difrɛn sik dɛn we pɔsin kin gɛt na in yay. Norrin sik na di wan wae de pasmak pan dɛm.

Aw dɛn kin gɛt di sik we dɛn kɔl Norrie disease?

dis כltεr NDP jin de na di X kromozom . As yu no, X ɛn Y na di tu sɛks kromozom dɛn. Difrɛn we dɛn de fɔ gɛt sik dɛn we pɔsin kin gɛt frɔm in mama ɛn papa. Norrie sik de inhεrit in wan X-linked rεsεsiv patεn .

Dɛn tin ya we dɛn kin gɛt frɔm dɛn mama ɛn papa kin afɛkt bɔy pikin dɛn. Gɛl pikin dɛn nɔ kin rili afɛkt. Dis na bikɔs bɔy pikin dɛn gɛt wan X kromozom nɔmɔ. So, dɛn kin dɔn gɛt wan jin we dɛn dɔn chenj we kin mek dɛn gɛt di sik.

if mama na di kכriכg fכ dis כltεr jin (we min se i gεt dis jin na wan pan in tu X kromozom dεm, bכt i nכ gεt nכ simptom, biכs כltin de wok fayn tεnki to di hεlty jin na di כda X kromozom), 50% chans de fכ eni man pikin we i bכn go gεt di sik we i gεt Norrie. Man pikin nɔ kin gɛt dis sik frɔm di papa.

Aw dɛn kin no se pɔsin gɛt Nɔri sik?

Wan dɔktɔ we de mɛn yu yay kin no se yu gɛt di sik we dɛn kɔl Norwich lɛk dis:

• Na bay we yu du wan kɔmplit ay ɛgzam ɛn fyzikal ɛgzam .
• Na bay we yu no yu pikin in famili mɛdikal istri .
• Na bay we dɛn ɔda fɔ tɛst di jɛnɛtiks .

Ɔftalmɔlɔjis fɔ difrɛns ɛn no bɔt Nori sik frɔm ɔda sik dɛn we gɛt di sem kayn sik, lɛk:

• Retinoblastoma (wan kansa tכmכro we de divεlכp na di rεtina) .
• Rεtinopathy of prematurity (di divεlכpmεnt fכ di bכdi vεsul dεm we de gi bכdi to di rεtina insay pikin dεm we dεn bכn bifo tεm)
• Pεrsistεnt fetal vaskulεtכr''.
• Kot sik

Ɔda, milda, nɔ-X-linked vitreoretinopathy sik dɛn de ((Familial exudative vitreoretinopathies)) we gɛt fɔ du wit Norrie in sik.

sכmtεm, dεn kin no am we uman bεlε tru wan tεst lεk Amniocentesis. dis na if pכsin na di famili dכn gεt Norrie in sik, כ if dεn no se di mama de kכri di NDP jin mכtεshכn.

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Norrie disease?

Bebi dɛn we gɛt di sik we dɛn kɔl Norrie’s disease nid tritmɛnt we dɛn mek fɔ dɛn wan wan nid. Di tritmɛnt we dɛn kin pik kin bi:

• Ɔpreshɔn: Dɛn kin du ɔpreshɔn fɔ tɔch sɔm patikyula tin dɛn lɛk katarakt. Dɛn tin ya kin ɛp fɔ mek di pikin in yay nɔ smɔl ɛn fɔ mek i nɔ fil pen. Bɔt, wi nɔ go ebul fɔ si bak. Na smɔl tɛm nɔmɔ dɛn kin bɔn pikin dɛn wit wan retina we dɔn kɔmɔt ɛn dɛn kin si sɔm layt. If dɛn kayn tin ya apin, ɔpreshɔn kin ɛp fɔ mek dɛn kɔntinyu fɔ gɛt da abiliti de.
• Di tin dɛn we dɛn kin yuz fɔ ɛp fɔ yɛri: Dɛn tin ya kin ɛp pikin dɛn, yɔŋ pipul dɛn, ɛn ol pipul dɛn fɔ yɛri sawnd fayn fayn wan. Dɛn rili impɔtant fɔ pɔrsin wae nɔr de yɛri fayn fɔ kɔnɛkt wit di wɔl.
• Kɔklia implant: Dis kin ɛp yu fɔ yɛri wɔd ɛn ɔda sawnd dɛn klia wan.

As yu pikin de gro, i go nid fɔ kɔntinyu fɔ kia ɛn kia fɔ am. Dis go nid fɔ gɛt wan tim we gɛt difrɛn spɛshal pipul dɛn:

• Di dɔktɔ dɛn we de mɛn pikin dɛn
• Di wan dɛn we de stɔdi bɔt di jɛnɛtiks
• Di wan dɛn we de mɛn pipul dɛn we gɛt yay
• Di wan dɛn we de stɔdi bɔt aw fɔ yɛri
• Di wan dɛn we de mɛn pipul dɛn we de tɔk

Yu pikin kin bɛnifit bak frɔm ɛdyukeshɔn sɔpɔt savis. I impɔtant fɔ tɔk to yu pikin in skul administreshɔn fɔ no us risɔs dɛn de.

Wetin na di fiuja fɔ pipul dɛm wae gɛt Norrie sik?

Bɔrku pipul dɛm wae gɛt Norris sik kin blaynd ɔl (nɔr kin ebul fɔ si ɛni layt) insay di fɔs 12 mɔnt wae dɛn de liv. Na lɛk wan pan ɛvri fayv pipul dɛn kin si sɔm layt afta dɛn dɔn ol 3 ia.

Yu pikin in tumara bambay fɔ lɔng tɛm kin dipen pan bɔku tin, lɛk us sayn dɛm fɔ di sik kin afɛkt am ɛn aw i kin tranga. Yu pikin in mɛdikal tim na di bɛst sɔs fɔ no bɔt aw Norwich sik kin afɛkt yu pikin ɛn aw yu kin ɛp dɛn fɔ fil fayn.

Yu tink se dɛn kin ebul fɔ protɛkt Norovirus?

Nɔrovayrɔs nɔ go ebul fɔ protɛkt. If pɔsin na yu famili gɛt Norovirus ɔ ɔda sik dɛn we dɛn bɔn wit na yu yay, i go fayn fɔ tink bɔt aw fɔ advays yu bɔt yu jɛnɛtiks bifo yu gɛt bɛlɛ. jεnεtik kכnsεlכ kin rεkomεnd fכ jεnεtik tεst fכ no if yu na di kכriכ fכ di NDP jin mכtεshכn. Dis mכtεshכn kin mek yu pikin gεt difrεn jεnεtik ay sik dεm, inklud Norovirus.

Aw a go kia fɔ mi pikin?

Yu pikin in mɛdikal tim go tɛl yu aw fɔ kia fɔ yu pikin di bɛst we na os. Di tin dɛn we ɛni pikin nid kin difrɛn difrɛn wan bay di ej we dɛn ol ɛn di sayn dɛn we dɛn kin gɛt. Dis dɔŋ ya na sɔm jenɛral advays dɛn we go ɛp yu pikin fɔ du ɔl wetin i ebul fɔ du.

Mek shɔ se yu kɛr yu pikin go na dɔktɔ apɔntinmɛnt.

Yu pikin go gɛt bɔku apɔntinmɛnt wit difrɛn spɛshal pipul dɛn. Dɛn apɔntinmɛnt ya rili impɔtant fɔ mek shɔ se yu pikin gɛt kia we go mek dɛn kia fɔ dɛn wan wan.

• Ɛgzam fɔ yu yay ɛvri ia: Ivin if yu pikin nɔ de si ɔltin, i impɔtant fɔ go to ay dɔktɔ wan tɛm insay di ia. Dis go ɛp yu pikin fɔ si if ɛni prɔblɛm de we de mek in yay fil pen ɛn tɛl am fɔ trit am if nid de.
• Ɛgzam fɔ yu yes ɛvri 6 to 12 mɔnt: We yu de wach aw yu pikin de yɛri ɔltɛm, yu kin gɛt tritmɛnt we nid de. Wan dɔktɔ we de mɛn pipul dɛn we de yɛri kin no se pɔsin nɔ de yɛri fayn bifo di sayn dɛn we de sho se i gɛt di sik.
• Ɛnkɔrejmɛnt dɛn we de ɛp wit ɔda eria dɛn we i de divɛlɔp: Di pikin kin nid fɔ mit wit pipul dɛn lɛk pipul dɛn we de mɛn pipul dɛn we de tɔk, pipul dɛn we de wok fɔ pipul dɛn we de wok wit pipul dɛn, ɛn pipul dɛn we de stɔdi bɔt pɔsin in maynd.
• Apɔntinmɛnt fɔ pikin dɛn: Yu fɔ go to dɔktɔ fɔ pikin dɛn ɔltɛm fɔ chɛk yu pikin in ɔl wɛlbɔdi.

Impɔtant: I rili impɔtant fɔ mek ɔl yu pikin in dɔktɔ dɛn wok togɛda ɛn sheb infɔmeshɔn.

Ɛp fɔ manej di pikin in ɛvride layf

Nɔrwich sik kin kam wit bɔku prɔblɛm dɛn to pikin in ɛvride layf.

• Slip ɛn wek ɔltɛm: Pikin dɛn we gɛt silia sik kin gɛt prɔblɛm fɔ slip fayn na nɛt. Dis kin mek dɛn fil taya insay di de, dɛn kin vɛks, ɛn dɛn kin gɛt prɔblɛm fɔ pe atɛnshɔn pan di wok we dɛn de du na skul. If yu pikin gɛt prɔblɛm fɔ slip, tɔk to yu dɔktɔ we de mɛn pikin dɛn bɔt aw fɔ ɛp am.
• Sɔshialayzeshɔn: As yu pikin de yɛri bad bad wan, i kin tranga fɔ ple wit ɔda pikin dɛn ɛn fɔ intarakt wit di wɔl. Dis kin notis mɔ we i yɔŋ. Di pikin kin fil se i nɔ de nia ɔda pipul dɛn ɛn i kin sho sayn dɛn we de sho se i gɛt pwɛl at. Yu kin ɛp yu pikin bay we yu plan fɔ du soshal aktiviti dɛn na say dɛn we kwayɛt ɛn nɔ gɛt bɔku nɔys na di bakgrɔn.
• Kia fɔ di tin dɛn we de ɛp pɔsin fɔ yɛri: Dɛn tin ya na impɔtant pat pan tritmɛnt. Bɔt, pikin dɛn kin lɔs ɔ brok dɛn. Fɔ kia fɔ spɛshal mɛrɛsin ikwipmɛnt nɔ izi fɔ ɛni pikin. We pɔsin nɔ de yɛri fayn, dat kin mek dis prɔblɛm kam bak. As yu ebul, tich yu pikin fɔ kia fɔ in ɛp fɔ yɛri ɛn tɛl am fɔ tɛl yu wantɛm wantɛm if sɔntin apin.

Tek kia of yusɛf bak.

Yu pikin nid yu, so i impɔtant fɔ mek yu kia fɔ yusɛf. Na kɔmɔn tin fɔ mek mama ɛn papa ɛn di wan dɛn we de kia fɔ dɛn fil se dɛn at pwɛl ɛn dɛn taya. Pan ɔl we no izi sɔlv nɔr de fɔ dis, fɔ no aw yu de fil na di fɔs tin fɔ fɛn sɔlv.

• Tɔk to yu dɔktɔ bɔt aw yu de fil.
• Join wan sɔpɔt grup. Dis kin ɛp yu fɔ kɔnɛkt wit mama ɛn papa dɛn we gɛt di sem kayn prɔblɛm.
• Aks fɔ ɛp. Nɔ shem fɔ aks fɔ ɛp frɔm yu fambul, padi, ɛn neba.

Ɔda nem dɛn fɔ di sik we dɛn kɔl Norwich

Ɔda nem dɛm fɔ dis kɔndishɔn na:

• Anderson-Warburg sindrom
• Whitnall-Norman sindrom
• Kכnjenital prכgrεsiv okulo-akostikכ-sεribral dεjεnεreshכn''.
• Oligofrenia maykroftalmos
• Pseudoglioma we dɛn bɔn wit

Fɔ dɔn, wetin fɔ mɛmba

Nɔris sik na wan kɔmpleks sik wae kin afɛkt ɔlman difrɛn smɔl. Dat min se i kin tranga fɔ no gud gud wan wetin fɔ ɛkspɛkt we dɛn no se yu pikin gɛt dis sik. We yu gɛda wan tim fɔ sɔpɔt yu pikin, dat go ɛp yu fɔ tek wan step fɔ go bifo. Aks kwɛstyɔn dɛn fɔ gɛt di infɔmeshɔn we yu nid, ɛn nɔ shem fɔ tɔk bɔt wetin de mɔna yu. Nɔto yu wan de.