Yu tink se dis sik we nɔ kin apin so ɔltɛm go afɛkt yu pikin? Lɛ wi lan bɔt Aicardi Syndrome!

Mama ɛn papa, sɔntɛnde i kin tranga fɔ tink bɔt di sik dɛn we wi smɔl pikin dɛn de sɔfa, nɔto so? Ɛspɛshali if na wan rare kɔndishɔn wae yu nɔr kin yɛri bɔt bɔrku tɛm. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya. Dɛn kɔl am Aicardi Syndrome . Dis na wan sik we nɔ kin apin we dɛn bɔn am ɛn i kin afɛkt di pikin in bren ɛn in yay. Yu kin fred smɔl we yu yɛri dis nem, bɔt lɛ wi tɔk bɔt am ditayli ɛn simpul wan.

Wetin na di sik we dɛn kɔl Aicardi Syndrome?

Fɔ tɔk am simpul wan, Aicardi Syndrome na wan sik we dɛn kin bɔn pikin wit sɔm chenj dɛn na in bɔdi, mɔ in bren ɛn yay. Dis na tin we nɔ kin apin so ɔltɛm. Dɔktɔ dɛn kin no tri men sayn dɛm fɔ dis sik. Lɛ wi si wetin dɛn bi.

1. Agenesis of the corpus callosum: wan imכtant pat de na wi bren we de wok lεk brij we de kכnekt di lεft εn rayt say na di bren. Dɛn kɔl am di kɔpɔs kalɔsɔm. pan pikin dεm we gεt dis kכndyushכn, dis pat nכ de fכm ful wan, כ na כnli pat pan am. Dis kin ambɔg di chenj we di tu say dɛn na di bren de chenj di infɔmeshɔn.

.​ כ sכm pat dεm na di rεtina, di sεnsitiv tisu we de na di bak pat pan di yay we de sεnd wetin wi de si to di bren (`(Chorioretinal lacunae)`). Dis kin mek i nɔ ebul fɔ si fayn.

3. Seizure: Dɛn pikin ya kin gɛt infantile spasms, we kin bigin we dɛn smɔl . Dis na kכndyushכn we de kכz fכ wan abnכmaliti na di ilektrikal aktiviti na di bren. Dɛn sik ya kin kɔntinyu ɛn kin bi epilepsy we kin kam bak.

Dis na tin we kin mek pɔsin in layf de pan denja. Sɔm kayn bad bad tin kin apin to di pikin in layf kin afɛkt. Bɔt wi fɔ mɛmba se nɔto ɔl di kes dɛn kin siriɔs . Pan ɔl we yu pikin kin liv shɔt layf pas ɔda pikin dɛn, yu pikin kin stil ebul fɔ ple, laf, ɛn ɛnjɔy in pikin tɛm. Yu dɔktɔ go tɛl yu wetin fɔ ɛkspɛkt bay aw yu pikin in kɔndishɔn. Bikɔs, lɛk ɔl pikin, ɔl pikin in kɔndishɔn difrɛn.

Bikɔs dɛn pikin ya go nid mɛrɛsin ɛn sɔpɔt fɔ dɛn ɔl dɛn layf, dɛn go gɛt rili tayt padi biznɛs wit dɛn dɔktɔ dɛn. Plɛnti tin dɛn ɛn advays de bak fɔ mama ɛn papa ɛn di wan dɛn we de kia fɔ dɛn fɔ ɛp dɛn fɔ dil wit wetin dɛn pikin nid as i de gro.

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

Aicardi Syndrome kin afɛkt difrɛn pat dɛm na pikin in bɔdi. Di men wan:

• To di bren
• Fɔ di yay dɛn
• Fɔ mek di bɔdi gro

Lɛ wi luk ɛni wan pan dɛn tin ya smɔl mɔ.

Di tin dɛn we gɛt fɔ du wit di bren

Bɔku sayn dɛn de we kin afɛkt di pikin in bren bikɔs ɔf dis sik:

• as wi bin dכn tכ k bכt di kכpas kכlכsכm nכ de wok fayn .
• Seizures , dat na, epilepsy.
• di bren asimεtri - dis min se di sayz כ shep fכ di tu say dεm na di bren nכ de di sem.
• abnכmaliti (insay saiz כ nכmba) fכ di bren tכmכro כ lumps.
• Sist dɛn na di bren.
• di kכva dεm we fulכp wit wata (vεntrikul dεm) na di bren big.
• di nεv sεl dεm we de kכlכs na di כnusual ples dεm (`(Heterotopia)`).

Wan pan di fכs sayn dεm fכ dis kכndyushכn kin bi fכ sik, we kin bigin we di pikin ol fכ mכnt. Dɛn tin ya kin tan lɛk we pikin kin gɛt spam . Yu kin fil lɛk se yu pikin in wan ol bɔdi de jɔk ɛn shek wantɛm wantɛm. Dɛn sik ya kin apin bɔku tɛm insay di de ɛn i kin tranga pasmak as tɛm de go.

Apat frɔm dat, yu go notis se yu pikin de let fɔ rich di divɛlɔpmɛnt maylston dɛn we fit in ej. Fɔ ɛgzampul, dɛn kin let fɔ bigin waka ɔ tɔk dɛn fɔs wɔd. Intɛlektual disabiliti na kɔmɔn tin na dis kɔndishɔn. I kin kɔmɔt frɔm we i nɔ at to we i kin rili bad.

Di sayn dɛm we gɛt fɔ du wit di yay

Di sayn dɛm fɔ Aicardi Syndrome we de afɛkt pikin in yay na:

• Wan difεkt na di optik nεv (`(Coloboma)`).
• di rεtina tisu dεm we dεn dכn dכn (Chorioretinal lacunae).
• Smɔl ɔ nɔ divɛlɔp yay (Microphthalmia).

Insay kes dɛm we nɔ kin rili bad, prɔblɛm kin apin we pɔsin de si we kin mek i nid fɔ tek glas ɛn fɔ chɛk yu yay ɔltɛm. Bɔt if bad bad tin dɛn de apin na di yay, pɔsin kin blaynd bak.

Di kwaliti dɛm we gɛt fɔ du wit di divɛlɔpmɛnt na di bɔdi

Aicardi Syndrome kin afɛkt di we aw sɔm pat dɛn na pikin in bɔdi de divɛlɔp. Dis kin mek yu gɛt sɔm kayn sik lɛk:

• di mכsul dεm wik, di limp, εn di kכdכnayshכn we de lכs (`(Hypotonia)`). I kin fil lɛk rɔba dɔl.
• Smɔl ed (Maykrosɛfali).
• abnɔmal tin na di spayna ɛn rib, we kin mek yu gɛt skɔliosis.
• Yes dɛn we dɔn big.
• di sכt we di spεs de bitwin di כp lip εn di nos (philtrum).
• Smɔl an dɛn we nɔ fayn ɔ we nɔ fayn.
• Tinin fɔ di aylash dɛn.

I nɔ kin izi fɔ bebi dɛn fɔ sidɔm, ol sɔntin, ɔ fɔ waka. Yu pikin kin gɛt wan ɔ mɔ pan di sayn dɛn we de na dis list, bɔt nɔto ɔl dɛn.

di simptom dεm na di gεstrointestinal kin apin bak wit dis kכndyushכn. Fɔ ɛgzampul:

• i at fכ it (fכ bebi dεm), sכmtεm i kin so bad dat fכ it tru tכb nid fכ it.
• Banbɛlɛ.
• Rɔnbɛlɛ.
• Gastroesophageal reflux (Gastroesophageal reflux) - dis min se it de kam bak כp insay di trot.

Imajin aw i nɔ kin ebul fɔ ɛp smɔl pikin we i nɔ kin izi fɔ it. Bɔt we dɛn de fɔ kɔntrol dɛn tin ya.

Pan ɔl we difrɛns de pan di we aw sɔm pat dɛn na in bɔdi dɔn gro, yu pikin kin ebul fɔ du sɔm tin dɛn fɔ insɛf. Fɔ ɛgzampul:

• It yu wan.
• Sidɔm yu wan.
• Tɔk wit shɔt sɛntɛns, ɔ tɔk bɔt yu maynd bay ɔda we dɛn lɛk fɔ mek yu an.
• Waka.
• Yuz di tɔylɛt.

Yu pikin kin tek lɔng tɛm pas ɔda pipul dɛn fɔ mek i sabi dɛn tin ya. Sɔntɛnde, dɛn nɔ kin ebul fɔ sabi dɛn tin ya atɔl. Bɔt mɛmba se ɔl pikin difrɛn .

Wetin na de tin wae kin mek pɔrsin gɛt Aicardi Syndrome?

dis de kכz fכ wan jin vεryכnt na di X kromozom . Dɛn stil de du risach fɔ no ustɛm na us jin i bi.

Di impɔtant tin na dat dis sik nɔto frɔm in mama ɛn papa . Dat min se, i nɔ gɛt frɔm mama ɛn papa. I kin apin randomly, ɔ as a rizulta fɔ wan nyu jɛnɛtik chenj we kin apin wantɛm wantɛm.

Risk factors fɔ Aicardi Syndrome

dis kכndyush כn de afekt gyal pikin dεm mכst biכs di jεnεtik mכtεshכn de afekt wan X kromozom.

Yu no, gyal pikin dɛn gɛt tu X kromozom (XX). Bɔy pikin dɛn gɛt wan X kromozom ɛn wan Y kromozom (XY). dis kromozom dεm de sho di pikin in sεks kכntribyushכn.

if dis kכndyushכn apin pan man pikin, i kin kil am biכs na wan X kromozom nכmכ dεn gεt. Bikɔs uman dɛn gɛt tu X kromozom dɛn, ivin if wan afɛkt, di ɔda wan gɛt wɛlbɔdi X kromozom.

Kɔmplikɛshɔn dɛn we kin kam wit di sik we dɛn kɔl Aicardi Syndrome

Aicardi Syndrome kin mek pikin day bifo tɛm. Di men rizin dɛn fɔ dis na:

• Di sik dɛn we kin kɔntinyu fɔ de, we nɔ kin izi fɔ trit.
• Prɔblɛm dɛn we gɛt fɔ du wit it ɛn drink.
• I nɔ kin izi fɔ yu fɔ blo.

Yu pikin kin gɛt bɔku prɔblɛm dɛn we kin mek i day lɛk nyumonia . dis na biכs di mכsul dεm na di lכng εn di dayafragm wik. So, e kin tranga fɔ kɔntrol dɛn kayn infɛkshɔn ya.

Aw dɔktɔ dɛn kin no se pɔsin gɛt Aicardi Syndrome?

Sɔntɛnde, dɔktɔ kin si sayn dɛn fɔ dis sik we dɛn de du ɔltrasɔund bifo dɛn bɔn di pikin. afta dεn bכn di pikin, dεn kin kכnfכm di diagnosis bay we dεn luk pan sayn dεm we de afekt di pikin in bren εn in yay.

Dɛn kin du dɛn tɛst ya fɔ no if pɔsin gɛt di sik:

• Bren MRI skan:egzamin di kכpas kכlosכm εn כda strכkchכ dεm na di bren.
• EEG (Electroencephalogram) test: I de chɛk di ilɛktrik aktiviti na di bren fɔ no if epilepsy de.
• Mek yu yay chɛk to pikin dɛn ɔftalmɔlɔjis: Chɛk fɔ di kɔndishɔn dɛn we wi bin dɔn tɔk bɔt, ``Coloboma'' ɛn ``Choroidal lacunae''.

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

Di tritmɛnt fɔ Aicardi Syndrome kin difrɛn difrɛn wan bay aw di sayn dɛm kin afɛkt di pikin. Wan tritmɛnt we dɛn kin yuz nɔ kin wok fɔ ɔlman.

• Di mɛrɛsin dɛn we de mek pɔsin nɔ gɛt sik: Dɛn tin ya kin ɛp fɔ kɔntrol di sik we pɔsin kin gɛt. Bɔt sɔntɛnde, i nɔ kin izi fɔ trit di sik dɛn we kin mek pɔsin sik. No wan saiz mɛrɛsin nɔ de fɔ ɔlman. Yu pikin in dɔktɔ go tray sɔm difrɛn mɛrɛsin dɛn fɔ fɛn di wan we go wok fɔ dɛn.
• Di tin dɛn we pɔsin kin put insay pɔsin in bɔdi: Fɔ ɛgzampul, tin dɛn lɛk vagus nerve stimulator kin ɛp fɔ kɔntrol di tin dɛn we di bren de du. Dis kin bi opshɔn if di mɛrɛsin dɛn nɔ de wok.

Ɔda tritmɛnt dɛn kin bi:

• Fizik tritmɛnt: Strɔng di mɔsul dɛm ɛn mek yu muv fayn fayn wan.
• Ɔkupeshɔn tɛrapi: Divɛlɔp di skil dɛm we yu nid fɔ du ɛvride wok.
• Spich therapy: Mek yu sabi fɔ tɔk fayn ɔr praktis ɔda kɔmyunikeshɔn skil dɛm.
• Speshal ɛdyukeshɔn program dɛn na skul.
• Vishɔn sɔpɔt: Fɔ ɛgzampul, fɔ lan aw fɔ yuz adaptiv tɛknɔlɔji ɔ aw fɔ rid Brel .

Yu pikin go nid sɔpɔt ɔl in layf, mɔ if i gɛt prɔblɛm wit in maynd. Bɔku ɛp de bak fɔ di famili ɛn di wan dɛn we de kia fɔ dɛn pikin fɔ kia fɔ dɛn pikin ɛn fɔ fɛn tin dɛn we dɛn nid if nid de.

Ustɛm a fɔ go to mi pikin in dɔktɔ?

If dɛn nɔ no se yu pikin gɛt di sik we i smɔl, ɛn i let fɔ mit di divɛlɔpmɛnt maylston dɛn we fit in ej (e.g., fɔ tɔk dɛn fɔs wɔd, fɔ sidɔm in wan), go to dɔktɔ wantɛm wantɛm .

If yu pikin gɛt sik fɔ di fɔs tɛm, kɔl di imejensi savis wantɛm wantɛm .

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

We yu lan bɔt aw yu pikin gɛt di sik, yu kin gɛt bɔku kwɛstyɔn dɛn. Yu kin aks kwɛstyɔn dɛn lɛk:

• Aw di sik dɛn we mi pikin kin gɛt kin rili bad?
• Us sayn dɛn a fɔ luk fɔ?
• Wetin a fɔ du if mi pikin gɛt sik we de mek i sik?
• Us kayn tritmɛnt yu kin advays?
• Ɛni bad tin de we di tritmɛnt kin du?
• Wetin na di layf we mi pikin de liv?

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Aicardi Syndrome?

I at fɔ tɔk klia wan aw Aicardi Syndrome go afɛkt yu pikin. Bikɔs dis sik nɔ kin bɔku, ɛn di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, yu pikin in dɔktɔ go tɛl yu wetin fɔ ɛkspɛkt spɛshal wan bɔt yu pikin in sik.

Yu pikin go nid sɔpɔt ɔl in layf. Bikɔs dɛn nɔ go ebul fɔ du bɔku tin dɛn sef wan fɔ dɛnsɛf, ɔr ivin liv fɔ dɛnsɛf, dɛn go nid fɔ kɔntinyu fɔ gɛt mɛrɛsin, tritmɛnt, ɛn sɔpɔt savis. Yu pikin in mɛdikal tim go ɛp yu we yu de go. Dis we ya, dɛn kin tɛl yu bɔt wetin fɔ ɛkspɛkt ɛn aw fɔ sɔpɔt yu pikin di bɛst we.

Wetin na di layf we pikin we gɛt Aicardi Syndrome kin liv?

Yu pikin in wɛl bɔdi tumara bambay de dipen pan aw dɛn sik kin tranga ɛn aw dɛn kin tranga. Di bad bad sayn dɛm kin mek pikin in layf shɔt. Bɔt bɔku pipul dɛn we gɛt smɔl sik kin liv te dɛn big .

Dis kin difrɛn frɔm wan pɔsin to ɔda pɔsin, so tɔk to yu pikin in dɔktɔ fɔ gɛt di kɔrɛkt infɔmeshɔn.

"Fɔ no se yu pikin gɛt wan sik we nɔ kin apin lɛk Aicardi Syndrome kin bi wan pan di tin dɛn we at pas ɔl we mama ɔ papa ɔ pɔsin we de kia fɔ yu kin yɛri. Yu gɛt bɔku kwɛstyɔn bɔt wetin fɔ ɛkspɛkt ɛn wetin fɔ ɛkspɛkt. Pan ɔl we dɔktɔ dɛn nɔ kin ebul fɔ tɔk bɔt wetin go apin tumara bambay, dɛn kin gi yu pikin ɔl wetin i nid fɔ gɛt wɛlbɔdi as i pɔsibul, dɛn kin gi yu pikin kia ɛn sɔpɔt."

Fɔ kia fɔ di sik we dɛn kɔl Aicardi Syndrome na tin we pɔsin kin du fɔ ɔl in layf. Pan ɔl we dis kin mek yu strɛs ɛn fil bad, mɛmba se yu pikin in dɔktɔ dɛn go de wit yu ɛvri step we yu de go. If yu nid ɛp ɔ yu gɛt kwɛstyɔn, nɔ shem fɔ aks.

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

Okay, so, sɔm tin dɛn de we yu nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt:

• Aicardi Syndrome na wan sik we nɔ kin apin so ɔltɛm we dɛn bɔn pikin .
• Dis kin afɛkt di bren ɛn di yay mɔ , ɛn i kin mek yu gɛt sik .
• Dis sityueshɔn nɔto sɔntin we de kɔmɔt frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn .
• Di sayn dɛm ɛn aw di sik kin tranga kin difrɛn frɔm wan pikin to ɔda pikin .
• Tritmɛnt kin ebul fɔ kɔntrol di sayn dɛm, ɛn i impɔtant fɔ sɔpɔt di pikin .
• Nɔto yu wan de. Dɔktɔ, tritmɛnt pipul, ɛn sɔpɔt grup dɛn de fɔ ɛp yu ɛn yu pikin.
• Ɔl pikin gɛt valyu, dɛn gɛt di sem rayt fɔ lɛk am, kia fɔ am, ɛn gɛt gladi-at. Na wi wok fɔ ɛp pikin dɛn we de liv wit dis sik fɔ divɛlɔp to dɛn ful pɔtnɛshɛl .

A op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand sɔm tin bɔt Aicardi Syndrome. Mɛmba se yu dɔktɔ na di bɛst pɔsin fɔ advays yu bɔt yu pikin.

` Aicardi Syndrome, Aicardi Syndrome, Rare Diseases, Bren Disizin, Seizure, Divεlכpmεnt Dilay, Jεnεtik Mכtεshכn, Pikin Hεlth