Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt di sik we dɛn kɔl Cohen Syndrome.

Yu dɔn ɛva wɔnda wetin mek sɔm pikin dɛn kin biev ɛn divɛlɔp difrɛn we pas ɔda wan dɛn? Sɔntɛnde, ivin smɔl tin dɛn kin gɛt big stori biɛn dɛn. Tide, wi go tɔk bɔt wan jenɛtik kɔndishɔn we kin afɛkt bɔku tin dɛn pan pikin dɛn, lɛk aw dɛn de luk, aw dɛn de gro, ɛn aw dɛn mɔsul dɛn strɔng. Dɛn kɔl dis sik Cohen Syndrome.

Wetin na di sik we dɛn kɔl Cohen Syndrome?

Fɔ tɔk am simpul wan, Cohen Syndrome na wan sik wae kin kam wit wan jenɛtik mutation. I kin afɛkt bɔku pat dɛn na di bɔdi, lɛk aw i de si, aw di pikin de gro, aw in mɔsul dɛn de tɔn, ɛn aw i de tink. I kin mek yu gɛt sɔm sayn dɛm bak na yu bɔdi lɛk smɔl ed, tik tik ia, ɛn shɔt ayt.

Pikin dεm we dεn bכn wit dis kכndyushכn kin gεt dilay divεlכpmεnt . Dis min se tin dɛn lɛk fɔ rɔl, fɔ waka, ɛn fɔ tɔk kin leta pas aw dɛn bin de tink. Fɔ ɛgzampul, pan ɔl we yu padi in pikin kin de rɔl we i ol siks mɔnt, pikin we gɛt dis sik kin tek lɔng tɛm. Bɔt pan ɔl we dɛn kin delay dɛn tin ya, bɔku tɛm dɛn pikin ya kin rili swit, dɛn kin gladi, ɛn dɛn kin spɛn tɛm wit dɛn kɔmpin dɛn. Dɛn kin rili lɛk wi we dɛn de smayl ɛn tɔk.

Dis kin apin bikɔs ɔf wan jenɛtik muteshɔn, ɛn naw dɛn nɔ gɛt ɛni mɛrɛsin fɔ mɛn am. Pan ɔl wae bɔrku pipul dɛm wae gɛt Cohen Syndrome de liv nɔrmal layf, dɛn go nid sɔm sɔpɔt ɔlsay na dɛn layf.

Aw kɔmɔn dis sik wae dɛn kɔl Cohen Syndrome?

Infakt, Cohen Syndrome nɔto wan sik we kin rili bɔku. Sɔm stɔdi dɛn dɔn sho se nɔto 1,000 pipul dɛn ɔlsay na di wɔl dɔn gɛt dis sik. Bɔt bikɔs bɔku tɛm dɛn nɔ kin no di sik fayn, di rial nɔmba kin bɔku pasmak. So, e fayn fɔ no bɔt dɛn kayn tin ya.

Wetin na di sayn dɛm wae de sho se yu gɛt Cohen Syndrome?

Bɔrku sayn ɛn sayn dɛm de fɔ Cohen Syndrome. I impɔtant fɔ mɛmba se nɔto ɔlman go gɛt ɔl di sayn dɛm. Lɛ wi luk di men sayn dɛm wae yu kin si:

• Prɔblɛm fɔ divɛlɔp intɛlektual: Dis min se i kin tek smɔl tɛm fɔ lan ɛn ɔndastand tin dɛn. Yu go nid ɛkstra ɛp fɔ du skul wok.
• di mכsul dεm we de wik (hypotonia): Na fכ fil se yu wik כ yu de sכmtεm sכmtεm na di bכdi. Yu kin fil dis ivin we yu de es pikin ɔp.
• Hypermobility: Di joyn dɛn kin ebul fɔ chenj pasmak. Sɔm pikin dɛn kin bɛn dɛn an ɛn fut dɛn di we we strenj.
• Mayopia (nearsightedness) we de go ɔp wit di ej: Fɔ si tin dɛn nia bɔt nɔ de si tin dɛn we de fa klia wan. Dis kin bɔku we yu de ol, so i impɔtant fɔ mek yu de chɛk yu yay ɔltɛm.
• di rεtina distrofi כ chorioretinitis: I de damej di pat pan di yay we de εp fכ si. Dis kin mek i nɔ ebul fɔ si bɛtɛ igen.

Di sayn dɛm we di pikin dɛm we dɛn jɔs bɔn kin si

Yu kin si tin dɛn lɛk dis pan pikin dɛn we dɛn jɔs bɔn:

• I nɔ izi fɔ gi di pikin in bɛlɛ: I nɔ izi fɔ gi di pikin in bɛlɛ.
• Wik ɔ ay ay kray: Di pikin in kray kin difrɛn, wik pas aw i kin kray.
• I nɔ kin izi fɔ di pikin fɔ blo: I nɔ kin izi fɔ di pikin fɔ blo.
• I nɔ izi fɔ mek di pikin gɛt wet: Di pikin in wet nɔ de go ɔp fayn fayn wan.

I rili impɔtant: If yu pikin gɛt prɔblɛm fɔ blo ɔ i tan lɛk se i de tɔn blu, kɔl 119 ɔ yu lokal imejensi nɔmba wantɛm wantɛm ɛn kɛr am go na ɔspitul.

Divεlכpmεnt dilay εn bihayvya

Pikin dɛn kin nid mɔ tɛm fɔ lan ɛn divɛlɔp pas ɔda pipul dɛn we dɛn ej. dis divεlכpmεnt dεlay kin stat as ali as bεlε. Fɔ ɛgzampul, tin dɛn lɛk fɔ rɔl ɛn sidɔm fɔ dɛnsɛf kin delay. Yu pikin kin bigin fɔ waka afta i ol 2 ia, bɔt bifo i ol 5. I kin tek sɔm tɛm bak fɔ lɛ dɛn bigin fɔ tɔk.

Pan ɔl we dis sik kin mek sɔm prɔblɛm dɛn we kin apin to dɛn we dɛn de biev , lɛk aw wi bin dɔn tɔk, bɔku pikin dɛn kin rili de wit ɔda pipul dɛn ɛn dɛn kin gladi. Dɛn kin lɛk fɔ spɛn tɛm wit ɔda pipul dɛn ɛn ple wit ɔda pipul dɛn.

Bɔt mɛmba se dɛn sik ya nɔ kin apin to ɔl pikin di sem we. Sɔm pikin dɛn nɔ kin gɛt ɔl dɛn sik ya.

Wetin na de sayn dɛm wae de sho se yu gɛt Cohen Syndrome?

Bɔku kɔmɔn tin dɛn de we dɛn kin si pan pikin dɛn we gɛt Cohen Syndrome na dɛn fes ɛn bɔdi. Sɔm pan dɛn tin ya kin si we dɛn bɔn dɛn, ɛn ɔda wan dɛn kin sho as dɛn de ol.

Di tin dɛn we pɔsin kin si na in fes:

• Maykrosɛfali: Na ed we smɔl pas aw i kin bi.
• Tik ia, tik aybrɔw, ɛn lɔng aylash.
• di yay dεm we de slan dכn (wev-shaped palpebral fissures): di aylid dεm gεt shep we lεk wev.
• Tip na di nos we dɔn rawnd.
• sכt distans bitwin di nos εn di כp lip (philtrum).
• Tit dɛn we de ɔp we de kɔmɔt na do.
• Big big yes dɛn.

Sɔm pan dɛn kwaliti ya kin sho mɔ as di pikin de ol, bɔku tɛm afta i dɔn ol 5 ia.

Ɔda tin dɛn we pɔsin kin du wit in bɔdi:

Apat frɔm dat, ɔda tin dɛn we kin apin to pɔsin in bɔdi kin apin we i smɔl ɛn afta dat. Dɛn tin ya na:

• di fεt we nכ de na di trכnk εria εn di limb dεm de tכn: dis min se di midul pat pan di bכdi (arawnd di bεlε) de big εn di limb dεm de tכn.
• Short ayt.
• Dilay we pɔsin kin rich fɔ bɔn pikin.
• Testikul dεm we nכ dכn dכn na bכy pikin dεm.
• di kכva fכ di spayna (scoliosis כ kyphosis).

Us ɔda tin dɛn kin apin wit Cohen Syndrome?

Pikin dɛm we dɛn no se gɛt Cohen Syndrome kin gɛt mɔ risk fɔ gɛt ɔda tin dɛm we kin afɛkt dɛn imyun sistɛm. I impɔtant fɔ no bɔt dɛn tin ya bak.

• Nyutropenia: Dis na we wan kayn wayt blɔd sɛl (we dɛn kɔl nyutrofil) na di bɔdi de dכn. Dɛn nyutrofil ya de fɛt di jem ɛn infɛkshɔn dɛn we de kam insay wi bɔdi. So we dɛn tin ya nɔ bɔku, wi kin sik izi wan. Wi kin gɛt fiva, kol, ɛn ɔda sik dɛn ɔltɛm.
• כtoimyun kכndishכn dεm: Dis min se di bכdi in כwn imyun sistεm de atak hεlty sεl dεm na di bכdi. Tink bɔt am lɛk se wi yon ami de atak wi. Sɔm ɛgzampul dɛn na dayabitis , tayroyd sik, ɛn siliak sik (we na alɛji to di prɔtin gluten).

Wetin kin mek pɔsin gɛt Cohen Syndrome?

di Cohen Syndrome de kכz f כ wan mכtεshכn na di VPS13B jin (dεn kכl am bak di COH1 jin) . Fɔ tɔk am simpul wan, na bad tin we de na wan jin na wi bɔdi.

Imajin, insay wi bɔdi wi gɛt sɔntin we dɛn kɔl di Golgi apparatus . I tan lɛk faktri we de pak prɔtin. we dεn mek nyu protin, wi bכdi de sεnd di raw mεtirial to di Golgi apεratus, usay i de du sכm chenj dεm εn put am togeda wit כda protin dεm we fiba am fכ sכt dεm. afta dεn dכn mek dεn modifyushכn dεm ya, di Golgi apεrat de pak di protin dεm wit dεn instrכkshכn dεm εn sεnd dεm to di rayt ples we dεn de go.

di VPS13B jin spεshal wan de du glycosylation , we na di prכsεs we di shuga mכlikul dεm de atak di protin dεm. i de εp bak fכ כganayz εn sεnd signal to nyuron dεm εn fεt sεl dεm (adipocytes) .

So, we chenj de na di VPS13B jin, i tan lεk se da faktri de nכ kin wok fayn fayn wan. Dat min se i nɔ go ebul fɔ mek kwaliti prɔdak. Na dat kin mek yu gɛt di sayn dɛm fɔ Cohen Syndrome.

Yu tink se Cohen Syndrome na frɔm in mama ɛn papa?

Yɛs, Cohen Syndrome na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa. di kכndishכn de transmit insay wan כtosom rεsεsiv patεn.. If i tan lɛk se dis at fɔ ɔndastand smɔl, tink bɔt am dis we: Pikin kin gɛt di sik we dɛn gɛt tu kɔpi fɔ di jin we nɔ fayn we de mek i gɛt am (wan frɔm dɛn mama ɛn wan frɔm dɛn papa). Di mama ɛn papa we bɔn kin bi pipul dɛn we gɛt di jin. Dat min se dɛn nɔ gɛt di sik bikɔs na wan kɔpi nɔmɔ we nɔ fayn fɔ di jin. Di ɔda kɔpi gɛt wɛlbɔdi. Bɔt if tu pipul dɛn we de kɛr di pikin kam togɛda, chans de fɔ mek dɛn pikin gɛt di sik.

Udat de pan denja pas ɔl fɔ dis?

Cohen Syndrome kin afɛkt ɛnibɔdi. Bɔt dis sik kin mɔna sɔm grup dɛn pan pipul dɛn. Fɔ ɛgzampul:

• Di Amish pipul dɛn
• Finnish pipul dɛn
• Pipul dɛn we kɔmɔt na Grik (Mɛditarenian).
• Pipul dɛn we kɔmɔt na Ayrish famili

Pan ɔl we dis nɔto so spɛshal to wi na Sri Lanka, i fayn fɔ no.

Wetin na de prɔblɛm wae kin kam wit Cohen Syndrome?

Cohen Syndrome kin mek yu gɛt dɛn prɔblɛm ya:

• Infεkshכn dεm we kin kam fכs fכs, lεk midul ia infεkshכn (otitis media) (bikoz fכ di lכw imyuniti biכs fכ nyutropenia) .
• Dɛn tit ɛn ɔral wɛlbɔdi prɔblɛm lɛk gingivitis ɛn kansa sores .
• Prɔblɛm dɛn we de bɔku na di yay .
• Intɛlektual disabiliti na difrɛn lɛvul dɛn.

Aw dɛn kin no se pɔsin gɛt Cohen Syndrome?

Dɔktɔ kin no se i gɛt Cohen Syndrome afta dɛn dɔn du in bɔdi ɛgzam ɛn ɔda tɛst dɛn. As mama ɔ papa, if yu fil se yu pikin nɔ de rich di divɛlɔpmɛnt maylston dɛn we fit in ej (e.g., nɔ de smayl, nɔ de ansa to sawnd, nɔ de rɔl oba, nɔ de tɔk lɛk ɔda pikin dɛn), go to yu pikin in dɔktɔ. Dis kin bi sayn fɔ di sik kwik kwik wan.

Sɔntɛnde, i kin tranga fɔ no bɔt Cohen Syndrome bikɔs in sik kin tan lɛk bɔrku ɔda sik dɛm. Test kin ɛp yu dɔktɔ fɔ pul dɛn kayn tin ya. We dɛn du jɛnɛtik blɔd tɛst, i kin no di jin we de chenj we de mek dɛn sik ya.

Aw dɛn kin trit di sik we dɛn kɔl Cohen Syndrome?

Naw, no mɛrɛsin nɔr de fɔ Cohen Syndrome. Di tritmɛnt kin mɔs bi fɔ kɔntrol di sayn dɛm ɛn ɛp di pikin fɔ liv fayn fayn wan. Dis kin inklud:

• Edukeshonal program dεm fכ εli intavεnshכn: Speshal program dεm we de εp pikin in divεlכpmεnt εn lanin.
• Occupational therapy: Tritmɛnt wae de ɛp yu fɔ du ɛvride wok (lɛk fɔ it, drɛs, ɛn ple) fɔ yusɛf.
• Fizik tritmɛnt: Tritmɛnt we de ɛp fɔ mek di bɔdi muv fayn ɛn di mɔsul dɛn gɛt trɛnk. Dis na impɔtant tin fɔ hypotonia.
• Spich therapy: Tritmɛnt wae de ɛp fɔ mek yu ebul fɔ tɔk ɛn tɔk to ɔda pipul dɛm.
• We yu wɛr glas ɔ yu fɔ tren yu we yu nɔ de si fayn.

Nyutropenia we gɛt fɔ du wit Cohen Syndrome dɛn kin trit am wit wan mɛrɛsin we dɛn kɔl Granulocyte-Colony Stimulating Factor (G-CSF) . dis de mek di bon mכro fכ mek mכr wayt blכd sεl dεm, we de mek di risk fכ infεkshכn rεdכks.

If yu pikin gɛt infekshɔn bɔku tɛm, di dɔktɔ go gi am antibayɔtik fɔ trit am as nid de.

Wetin na de layf fɔ pɔrsin wae gɛt Cohen Syndrome?

Bikɔs Cohen Syndrome nɔr kin pasmak, nɔr gɛt bɛtɛ pruf fɔ tɔk bɔt aw e kin afɛkt pɔrsin in layf. Pan ɔl we bɔku pipul dɛn we gɛt dis sik kin liv nɔmal layf, nɔto ɔlman kin liv. Dis kin afɛkt di layf, mɔ if yu pikin gɛt ɔda tin dɛn we kin afɛkt di imyun sistɛm (lɛk we i kin gɛt infɛkshɔn ɔltɛm, we kin rili bad).

Wetin na di prɔgnosis fɔ Cohen Syndrome?

Cohen Syndrome kin afɛkt bɔrku tin na yu pikin in layf. Bɔt if dɛn trit dɛn fayn ɛn kia fɔ dɛn wit lɔv, i go mɔs bi se dɛn go gɛt gud prɔgnosis.

Di dɔktɔ go tɛl yu fɔ yuz difrɛn tritmɛnt dɛn we go mek yu gɛt di sik. Dɛn tin ya kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Bɔku tɛm, di tritmɛnt kin gɛt fɔ du wit tɛrapi ɛn ɛdyukeshɔn program. Dɛn tin ya kin ɛp di pikin fɔ rich di divɛlɔpmɛnt maylston dɛn we fit in ej.

Yu pikin kin gɛt prɔblɛm wit in yay ɛn i kin gɛt prɔblɛm wit in tit. Dɛn tin ya kin bigin we dɛn rich skul ej. So, kɔntinyu fɔ go to spɛshal pɔsin we de kia fɔ dɛn yay , dɛntist, ɛn ɔda pipul dɛn we dɛn kin advays fɔ kia fɔ dɛn fɔ wach dɛn sik dɛn as dɛn de gro.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Cohen Syndrome?

Bikɔs Cohen Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, no we nɔ de fɔ mek i nɔ apin . If yu de plan fɔ bigin famili, ɛn sɔmbɔdi na yu famili gɛt dis jenɛtik kɔndishɔn, ɔ if yu want fɔ no bɔt yu risk fɔ gɛt pikin we gɛt wan sik we yu gɛt frɔm yu mama ɛn papa lɛk Cohen Syndrome, i rili impɔtant fɔ tɔk to yu bɛlɛ kia ɔr wɛlbɔdi prɔvayda bɔt jenɛtik tɛst/kɔnsul .

Ustɛm a fɔ go to dɔktɔ?

As yu de kia fɔ yu pikin, na yu sabi am pas ɔlman. If yu notis ɛnitin we nɔ kɔmɔn ɔ we nɔ kɔmɔn we i de gro ɔ divɛlɔp, kɔl in dɔktɔ. Nɔ fred fɔ tɔk bɔt am, ilɛksɛf na jɔs smɔl tin.

Pe atɛnshɔn gud wan to di impɔtant tin dɛn we yu pikin kin du fɔ gro . Na kɔmɔn tin fɔ pikin dɛm wae dɛn dɔn no se gɛt Cohen Syndrome fɔ tek lɔng tɛm fɔ rich maylston dɛm lɛk fɔ rɔl ɔva ɛn tɔk dɛn fɔs wɔd dɛm. Yu dɔktɔ kin gayd yu fɔ no aw fɔ ɛp yu pikin insay dis tɛm.

Sɔntin yu nɔ plan! If yu pikin gɛt prɔblɛm fɔ blo, ɔ i gɛt pale ɔ blu skin ɛn nel, kɔl di imejensi savis wantɛm wantɛm.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu de tɔk to di dɔktɔ bɔt yu pikin, i go fayn fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin a fɔ du if mi pikin de mis di divɛlɔpmɛnt maylston dɛn?
• Us sayn dɛn a fɔ luk fɔ?
• Us tritmɛnt dɛn yu kin advays?
• Ɛni bad tin de we di tritmɛnt kin du?
• Aw a go ɛp mi pikin fɔ go bifo na skul?
• Ɔda mama ɛn papa grup ɔ ɔganayzeshɔn dɛn de we wi kin rich to fɔ sɔpɔt?

Yu tink se Cohen Syndrome na Ɔtizm?

Nɔ. Ɔtizm Spɛktrum Disɔda (ASD) na wan sik we de mek pɔsin gɛt nyurodivɛlɔpmɛnt . Cohen Syndrome na wan sik wae de kam wit jεnεtiks. Dɛn tu nɔto di sem. Bɔt bɔku pikin dɛm wae dɛn no se gɛt Cohen Syndrome kin gɛt sɔm kayn simptom dɛm wae fiba ɔtizm (ASD) (e.g., sɔshal prɔblɛm, ripit bihayvya), ɔr kin gɛt ASD wit Cohen Syndrome. Dɔktɔ kin ɛksplen dis klia wan.

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

Na nɔmal tin fɔ fil strɛs ɛn sɔri we yu pikin nɔ de rich maylston fɔ in ej. I kin mek yu strɛs mɔ bak as dɔktɔ dɛn de du tɛst fɔ no wetin de apin. Bɔt pan ɔl we Cohen Syndrome na sik we nɔ kin apin so ɔltɛm, dɔktɔ dɛn de lan mɔ bɔt dis sik ɛn aw fɔ mɛn am ɛvride.

Di program dɛm fɔ ɛp yu pikin kwik kwik wan kin ɛp yu fɔ mit in divɛlɔpmɛnt gol dɛm, ivin if i tek smɔl tɛm pas ɔda pipul dɛm we dɛn ej. Bikɔs Cohen Syndrome kin afɛkt di pikin in maynd bak, dɛn go nid yu fɔ lɛk am, sɔpɔt am, ɛn ɛp am ɔl dɛn layf.

Nɔ ɛva fil se na yu wangren de.Dɔktɔ, tritmɛnt pipul, ɛn ɔda sɔpɔt grup dɛn de fɔ ɛp yu ɛn yu pikin. Aks yu kwɛstyɔn dɛn, tɛl yu aw yu de fil. Wi de wish yu di trɛnk fɔ gi yu pikin di bɛst!

` Cohen Syndrome, Jɛnɛtik Diziz, Divɛlɔpmɛnt Dilay, Pikin Wɛlbɔdi, Nyutropenia, Maykrosɛfali, Hypotonia