Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt CHARGE Syndrome.

Mama ɛn papa, yu nɔ kin wɔri ɔltɛm bɔt yu smɔl pikin in wɛlbɔdi? Sɔntɛnde, ivin di smɔl smɔl sik dɛn we kin kam wit pikin dɛn kin mek pɔsin fred. Tide wi go tɔk bɔt wan kɔndishɔn we nɔ kin apin smɔl, bɔt i rili impɔtant fɔ no bɔt. Dɛn kɔl dis CHARGE Syndrome . Dis kin bi nyu tin to yu, bɔt nɔ wɔri. Lɛ wi tɔk bɔt am simpul wan ɛn di we we yu go ɔndastand.

Wetin na CHARGE Syndrome? Fɔ tɔk am simpul wan...

CHARGE syndrome na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . I kin afɛkt sɔm pat dɛn na yu pikin in bɔdi. Tink bɔt am, di yay, di nervɔs sistɛm, di at, di say dɛn we yu de pas na di nos, di say dɛn we yu kin bɔn, ɛn di yes na di men say dɛn we di sik kin afɛkt. Pikin dɛm wae gɛt dis sik kin gɛt difrɛn kayn fes ɛn sɔm kayn sayn dɛm wae de kam togɛda. Dɔktɔ dɛn kin no di sik bay ɔl dɛn tin ya.

Di impɔtant tin na dat nɔto ɔl pikin we gɛt CHARGE syndrome na di sem. De sayn dεm εn aw dεn kin bi kin difrεn frכm wan pikin to כda pikin. Sɔm abnɔmal tin kin bigin na di bɛlɛ, ɛn di sik kin afɛkt di pikin difrɛn we dɛn, fɔ bɔku ia.

Udat kin gɛt CHARGE syndrome?

Dis na wan jenɛtik kɔndishɔn we kin afɛkt ɛnibɔdi. Bɔku tɛm, na nyu jɛnɛtik chenj kin mek i apin . Dis min se nɔbɔdi na di famili nɔ bin dɔn gɛt am bifo. Sɔntɛnde, di pikin kin gɛt dis mutated jin frɔm wan pan di mama ɛn papa di tɛm we i gɛt bɛlɛ. Dis jεnεtik mכtεshכn de apin randomly. So, natin nɔ de we mama ɛn papa dɛn kin du fɔ mek dɛn nɔ gɛt dis sik, ilɛksɛf bifo dɛn gɛt bɛlɛ ɔ we dɛn gɛt bɛlɛ.

Aw kɔmɔn tin dis kin apin?

CHARGE syndrome na wan sik we nɔ kin apin so ɔltɛm . Ɔlsay na di wɔl, dɛn se na wan pan ɛvri 8,500 to 10,000 pikin dɛn we dɛn jɔs bɔn kin gɛt dis sik.

Aw CHARGE syndrome kin afɛkt mi pikin in bɔdi?

we di jin we de mek dis kכndyushכn chenj, wi sεl dεm nכ de gεt di instrכkshכn dεm we dεn nid fכ gro εn wok fayn fayn wan. Na dat mek i kin afɛkt bɔku pat dɛn na di bɔdi. Sɔntɛnde, di sayn dɛm kin nɔr kin so, bɔt sɔmtɛm dɛn kin rili bad ɛn ivin kin mek pɔrsin in layf de pan denja . dis kin bi mכtalman if di pikin in at εn di insay כgan dεm nכ de divεlכp fayn we i de gro na di bεlε.

Yu dɔktɔ go wach yu pikin gud gud wan ivin bifo dɛn bɔn am. Dis na fɔ rɛdi fɔ yu pikin in kam ɛn fɔ plan fɔ trit yu kwik kwik wan fɔ mek yu nɔ gɛt prɔblɛm dɛn we go mek yu layf de pan denja. Dis kin impɔtant mɔ if di sayn dɛm kin afɛkt tin dɛm lɛk di at, fɔ blo, ɔr fɔ it.

Wetin na di sayn dɛm wae de sho se yu gɛt CHARGE syndrome?

Di lɛta dɛn we de na di nem CHARGE kin ɛp yu fɔ mɛmba sɔm pan di men sayn dɛm fɔ dis sik.

• C - Koloboma εn kraynia nεv abnכmaliti dεm:
• Di lɔs fɔ sɔm tisu na di yay. Dis kin tan lɛk smɔl kɔt na di ayris na di yay.
• Prɔblɛm dɛn wit balans ɛn kɔdineshɔn.
• Paralayz na wan say na di fes.
• Di sɛns fɔ smɛl we de go dɔŋ.
• H - At difεkt dεm:
• At sik we de de we dεn bכn am (congenital). fכ egzampl, kכndishכn dεm lεk tεtralכji fכ Fallot , vεntrikul septal dεfekt , atrioventrikular kanal dεfekt, εn/כ aorta arch abnכmaliti dεm .
• A - Atresia di choanae:
• We di say dɛn we yu de pas na di nos smɔl ɔ blok ɔl, dat kin mek i nɔ izi fɔ blo ɛn i kin mek i nɔ ebul fɔ blo fayn.
• R - Ristrikshɔn fɔ gro ɛn divɛlɔpmɛnt:
• Di pikin nid mɔ tɛm fɔ rich di ayt ɛn wet gol dɛn we fit in ej.
• I kin tek ɛkstra tɛm bak fɔ rich di divɛlɔpmɛnt maylston dɛn we fit di ej.
• G - di abnכmaliti dεm na di jεnital:
• pan bכy pikin dεm, di penis sכm (maykropenis) εn/כ di tεstikul dεm nכ de dכn (cryptorchidism) .
• E - Di tin dɛn we nɔ de apin na di yes:
• abnכmal tin dεm lεk di yes dεm we de kכmכt εn di yes dεm we nכ de.
• I nɔ kin yɛri fayn, sɔntɛm i kin ivin dɛf.

Pan ɔl we dɛn kin si bɔku sayn dɛn we dɛn bɔn am, sɔntɛnde dɛn kin no di sik leta na layf, we di sayn dɛn kin sho leta.

Wetin na di ɔda ɔda tin dɛn we kin mek pɔsin gɛt dis sik?

Apat frɔm dɛn men sayn ya, ɔda sayn dɛn kin bi:

• I nɔ kin izi fɔ swɛla it ɛn drink.
• Prɔblɛm dɛn we kin apin we pɔsin de divɛlɔp in sɛns.
• Kleft lip ɔ cleft palata.
• Di mɔsul dɛn we wik (Hypotonia).
• di kidni abnכmaliti: di wata we pasmak na di kidni (hydronephrosis) , di urine we de kam bak na di kidni, כ di kidni we sכm כ we nכ de.
• di mכlfunshכn fכ di pasεj frכm di εsophagus to di bεlε (esophageal atresia) .
• Wae yu de wɔri ɔr de wɔri.
• Skɔliosis we dɛn kɔl .

Speshal tin dɛn we yu kin si na di fes

Pikin dɛn we gɛt CHARGE syndrome kin gɛt sɔm tin dɛn bak na dɛn fes:

• Wan fes we shep lɛk skwea.
• Wan fɔrɛst we brayt.
• Aybrɔw dɛn we dɛn kɔl.
• Big big yay dɛn.
• Aylid we de drɔp.
• Wan smɔl mɔt ɛn chin.
• Fes we nɔ gɛt wanwɔd.

Wetin kin mek pɔsin gɛt CHARGE syndrome?

dis kin bi fכ wan jεnεtik mכtεshכn na di jin `CHD7`.. dis `CHD7` jin de instrכkt wi sεl dεm fכ mek wan protin we de pak wi DNA insay kromozom dεm. Lɛk fɔ rap gift. dis DNA we dεn pak kin chenj in sayz εn shep (rimodelin), we min se i kin pak tayt כ lכs akɔdin to di nid fכ εvri kromozom.

pan pכsin we gεt CHARGE sεndrכm, di `CHD7` jin nכ de prodyuz protin dεm fayn fayn wan. Dɔn dɛn nɔ kin ebul fɔ pak di DNA mɔlyul dɛn akɔdin to di instrɔkshɔn dɛn. Na dat mek dɛn sayn ya kin apin.

na sכm pipul dεm we gεt CHARGE sεndrכm nכ kin gεt mכtεshכn na di `CHD7` jin. Ɔ dɛn kin gɛt chenj na ɔda jin na dɛn DNA. Dɛn stil de du risach bɔt dɛn tin ya we nɔ kin apin so ɔltɛm. Fɔ gi advays bɔt di jɛnɛtiks rili impɔtant pan dɛn kayn tin ya.

Yu tink se yu kin gɛt CHARGE syndrome?

Yɛs, dis na kɔndishɔn we pɔsin kin gɛt frɔm am. if pכsin gεt wan kכpi fכ di mutated CHD7 jin we i bכn, di simptom dεm kin apin. dis dεn kכl am כtosom dכminεnt transmishכn. כltu, bכku tεm, dεn jεnεtik chenj dεm ya kin apin as de novo mכtεshכn. Dis min se nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo. Mama ɔ papa wae gɛt tu pikin dɛm wae gɛt CHARGE syndrome, ɔr pɔrsin wae gɛt CHARGE syndrome, gɛt 50% chans fɔ gɛt pikin wit dis sik.

Aw dɛn kin no se pɔsin gɛt CHARGE syndrome?

Yu pikin in dɔktɔ go fɔs chɛk yu pikin fɔ chɛk fɔ di men sayn dɛm fɔ dis sik. Fɔ mek di dɔktɔ no se i gɛt di sik, i go du wan tɛst fɔ no if pɔsin gɛt di sik . dis involv fכ tek sכm sכm bכdi sεmpl εn fכ luk fכ chenj dεm na di CHD7 jin.

Fɔ mek shɔ se yu pikin in sik nɔ de mek i day, yu go nid fɔ du ɔda blɔd, urine, ɔ imej tɛst. Dɛn kin du dɛn tin ya fɔ chɛk if yu pikin in insay pat dɛn gɛt wɛlbɔdi. Dɛn tɛst ya go difrɛn frɔm wan pikin to ɔda pikin, i go dipen pan di sayn dɛm we dɛn gɛt. Tɔk to yu dɔktɔ bɔt ɛni ɔda tɛst we yu go nid fɔ mek shɔ se yu pikin gɛt wɛlbɔdi.

Aw dɛn kin trit CHARGE syndrome?

Di tritmɛnt fɔ CHARGE syndrome kin difrɛn frɔm wan pikin to ɔda pikin. Di men tin we dɛn kin pe atɛnshɔn pan na fɔ pul di pikin in sik dɛn. Di tritmɛnt we dɛn kin pik kin bi:

• Ɔpreshɔn fɔ kɔndishɔn lɛk we lip ɔ palata skata, at sik, ɔ choanal atresia.
• Fɔ tek pat pan ɔkupeshɔn tɛrapi, fizik tɛrapi, ɔ tɔk tɛrapi fɔ tich yu pikin di rayt it ɛn fɔ win di prɔblɛm dɛn we i gɛt fɔ tɔk ɛn langwej.
• Fɔ put fidin tyub fɔ ɛp di pikin fɔ it te i lan fɔ swɛla.
• Yuz ventilator ɔ CPAP mashin fɔ ɛp fɔ mek yu nɔ ebul fɔ blo ɔ fɔ mek yu nɔ ebul fɔ blo fayn.
• Fɔ di wan dɛn we nɔ de yɛri faynYuz tin dɛn fɔ ɛp pɔsin fɔ yɛri ɔ tin dɛn we dɛn kin put na pɔsin in kɔklia.
• Riferal fɔ spɛshal ɛdyukeshɔn fɔ ɛp fɔ mek pipul dɛn gɛt mɔ sɛns.
• Gi mɛrɛsin fɔ sɔm patikyula sayn dɛm.

Wan kɔdinetɔ fɔ kia fɔ pipul dɛn na di men pɔsin fɔ ebul fɔ manej dis sik fayn fayn wan ɛn fɔ gi sɔpɔt pan aw pɔsin de fil. Aks yu wɛlbɔdi prɔvayda fɔ mɔ infɔmeshɔn.

Aw a go kia fɔ mi pikin we gɛt CHARGE syndrome?

Pikin we gɛt CHARGE syndrome kin nid ɛkstra tɛm fɔ gro ɛn divɛlɔp. Dɛn kin biɛn smɔl pan maylston dɛn we fit dɛn ej, lɛk fɔ sidɔm we dɛn nɔ gɛt sɔpɔt ɛn tɔk. Insay di fɔs sɔm ia dɛn we yu pikin de liv, kip yu yay gud gud wan pan di impɔtant tin dɛn we yu pikin de du fɔ gro. Tɛl yu dɔktɔ if yu pikin de mis ɛni maylston. Yu dɔktɔ go wach aw yu pikin de gro na klinik ɛn wach aw i de go bifo fɔ lɔng tɛm. Kip ɔltɛm chɛk-ap ɛn tɛst fɔ mek shɔ se yu pikin gɛt wɛlbɔdi as i de gro ɛn nɔ de pan denja fɔ ɛni sayd ɛfɛkt we di diagnosis gɛt.

Yu tink se dɛn kin ebul fɔ avɔyd CHARGE syndrome?

Nɔ, CHARGE syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks ɛn dɛn nɔ kin ebul fɔ avɔyd am . Bɔrku tɛm, di jin muteshon wae kin mek i kin apin randomly, wae nɔrbɔdi na di famili bin dɔn gɛt dis sik bifo. So, i nɔ kin izi fɔ no am bifo tɛm.

Wetin yu kin ɛkspɛkt frɔm pɔsin we gɛt CHARGE syndrome?

We dɛn fɔs no se di pikin gɛt dis sik, di dɔktɔ go du tɛst fɔ si if di pikin in at ɛn di insay pat dɛn de wok fayn ɛn if ɛni sayn de we go mek i day. If ɛnitin de we nɔ de gro fayn, mɔ di wan dɛn we de afɛkt di at, dɛn kin nid fɔ du ɔpreshɔn fɔ kɔrɛkt am. Bɔku pikin dɛn we dɛn jɔs bɔn nid ɛp fɔ swɛla. So, di dɔktɔ kin put wan tiub fɔ it na di pikin in bɛlɛ fɔ gi am di it we i nid fɔ liv te dɛn ebul fɔ swɛla fɔ dɛnsɛf. Bɔrku ɔda tritmɛnt ɛn sɔpɔt de fɔ mit yu pikin in wɛl bɔdi nid dɛm.

Nɔr kɔmplit mɛrɛsin nɔr de fɔ CHARGE syndrome.

Wetin na di layf we pɔsin we gɛt CHARGE syndrome kin liv?

Di layf we pikin we dɛn jɔs bɔn we gɛt CHARGE sindrom kin liv kin difrɛn difrɛn wan bay aw dɛn sik bad bad wan. Bebi dεm we gεt siriכs simptom dεm kin gεt hכy mכtalman rεt insay di fכs fayv ia we dεn de liv. Bɔt pikin dɛn we gɛt smɔl sik kin liv nɔmal layf wit sɔpɔt kia fɔ ɔl dɛn layf.

If dɛn no se yu pikin gɛt CHARGE syndrome, tɔk to yu dɔktɔ bɔt in sik ɛn aw i go liv fɔ ɛp am fɔ liv gladi, wɛlbɔdi layf.

Ustɛm a fɔ go to mi pikin in dɔktɔ?

Si dɔktɔ if yu pikin gɛt ɛni wan pan dɛn tin ya:

• If infekshɔn de na di say we dɛn de du di ɔpreshɔn.
• If dɛn nɔ rich di divɛlɔpmɛnt maylston dɛn we fit di ej.
• If yu nɔ ebul fɔ it ɔ drink.
• If yu gɛt ɛni prɔblɛm wit yu yɛri ɔ si.
• If i nɔ izi fɔ yu fɔ swɛla.

If yu pikin gɛt prɔblɛm fɔ blo, in bɔdi in kɔlɔ chenj, i nɔ izi fɔ it bad bad wan, ɔ in at nɔ de bit fayn, go na ɔspitul wantɛm wantɛm.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

• Aw di sik dɛn we mi pikin kin gɛt kin rili bad?
• Wetin na di layf we mi pikin de liv?
• Yu tink se dɛn nid fɔ du ɔpreshɔn pan mi pikin?
• Ɛni sayd ɛfɛkt de pan di mɛrɛsin dɛn we dɛn gi yu?

Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu nyu bɔbɔ gɛt wan sik we nɔ kin apin so ɔltɛm. Sɔm mama ɛn papa ɛn pipul dɛn we de kia fɔ dɛn pikin kin si se fɔ advays dɛn pikin na fayn we fɔ no mɔ bɔt aw dɛn kin no se dɛn pikin gɛt di sik ɛn aw fɔ ɛp dɛn pikin fɔ liv bɛtɛ layf. Kip rεkɔd fɔ yu pikin in sik ɛn if i de mit di divɛlɔpmɛnt maylston dɛm fɔ in ej na di klinik. Kɔntakt yu dɔktɔ if yu gɛt ɛni kwɛstyɔn ɔ wɔri bɔt yu pikin in wɛlbɔdi.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Pan ɔl we CHARGE syndrome na wan prɔblɛm we nɔ izi, if dɛn no am kwik kwik wan, dɛn trit am fayn fayn wan, ɛn i de kia fɔ am wit lɔv, dat kin ɛp di pikin fɔ liv di bɛst layf.

• Ɔl pikin difrɛn: Di sayn dɛm ɛn aw dɛn kin tranga kin difrɛn frɔm wan pikin to ɔda wan. So nɔ kɔmpia dɛn to ɔda pipul dɛn.
• Multidisiplinari tim sɔpɔt: Fɔ manej dis kɔndishɔn nid fɔ gɛt difrɛn spɛshal pipul dɛm, tritmɛnt pipul dɛm, ɛn sɔpɔt savis dɛm.
• Peshɛnt ɛn ɔndastand: Gi yu pikin ɛkstra tɛm ɛn sɔpɔt fɔ mek i gro.
• Nɔto yu wan: kɔnɛkt wit ɔda famili dɛn we gɛt pikin dɛn lɛk dis, jɔyn sɔpɔt grup dɛn. I go gi yu bɔku trɛnk.
• Fɔ fala yu dɔktɔ in instrɔkshɔn dɛn: Nɔ mis di apɔntinmɛnt ɛn tɛst dɛn we yu dɔn sɛtul fɔ du. Tɔk to yu dɔktɔ if yu gɛt ɛni prɔblɛm.

Mɛmba se ilɛksɛf yu pikin gɛt dis sik, yu lɛk, sɔpɔt, ɛn gayd di rayt we go mek big chenj na dɛn layf.

` CHARGE syndrome, jεnεtik sik dεm, pikin dεm sik, divεlכpmεnt dεlay, at dεfεkt, yεri εnjɔy, kכloboma