I kin gladi fɔ ɛni mama ɔ papa fɔ si dɛn smɔl pikin de smayl ɛn gladi ɔltɛm, nɔto so? Bɔt yu dɔn ɛva tink se sɔntɛnde dis kayn we aw pɔsin kin gladi ɔltɛm ɛn klap, kin bi sayn fɔ wan sik we nɔ kin apin to pɔsin we gɛt jɛnɛtiks? Yu go sɔprayz fɔ yɛri dis. Tide wi de tɔk bɔt wan pan dɛn kayn sik ya, we na Angelman Syndrome.
Fɔ tɔk am simpul wan, wetin na Angelman Syndrome?
Angelman Syndrome na wan sik wae nɔr kin bɔrku pan yu pikin in jɛnɛtiks wae kin afɛkt aw yu pikin de divɛlɔp, aw i de tɔk, aw i de balans, ɛn aw i de muv. Sɔntɛnde, i kin mek yu gɛt sik bak.
We yu luk pikin we gɛt dis sik, yu go notis se dɛn kin gladi ɔltɛm ɛn dɛn kin fil fayn pas nɔmal pikin. Dɛn kin smayl bɔku, dɛn kin laf lawd wan. Dɛn kin mek wan we we dɛn kin flap dɛn an we dɛn gladi. Infakt, wi kin gladi bak we wi si pikin de smayl. So, i go tan lɛk se i strenj to yu fɔ tink se dis gladi at we di pikin gɛt kin bi sayn fɔ wan sik.
Ɔda sayn dɛn kin bigin fɔ sho as di pikin de ol. Fɔ ɛgzampul, yu kin bigin fɔ notis se di divɛlɔpmɛnt de te , lɛk fɔ nɔ tɔk dɛn fɔs wɔd we dɛn ol wan ia. Di sik kin apin bak bitwin tu ɛn tri ia.
Dis sik nɔ de mek pɔsin in layf de pan denja. Dat min se i nɔ de mek di pikin in layf shɔt. Bɔt as di pikin de gro, i kin gɛt sɔm prɔblɛm dɛn we i de muv, tɔk, ɛn divɛlɔp. Bɔt nɔr wɔri, gud tritmɛnt de fɔ kɔntrol dɛn sik ya.
Aw dis sik kin kɔmɔn?
Angelman Syndrome na wan sik wae nɔr kin bɔrku , wae kin afɛkt lɛk wan pan ɛvri 12,000 to 20,000 pipul dɛm.
Wetin na di sayn dɛm wae de sho se yu gɛt Angelman Syndrome?
De sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin ɛn wit di ej. Lɛ wi sheb dɛn to tu kategori.
| Di men tin dɛn we pɔsin kin si | |
|---|---|
| Di kwaliti we pɔsin gɛt | Tɔk bɔt |
| Divεlכpmεnt dilay | Nɔ kray, sidɔm, ɔ waka as i fit fɔ di ej. |
| Intɛlektual disabiliti | Di prɔblɛm dɛn we kin apin we pɔsin de lan ɛn ɔndastand. |
| I nɔ izi fɔ tɔk | Sɔm pikin dɛn kin tɔk smɔl wɔd dɛn nɔmɔ, ɛn ɔda wan dɛn nɔ kin ebul fɔ tɔk atɔl. |
| I nɔ izi fɔ waka | Wan waka we nɔ stedi, we de shek shek ɛn we pɔsin de waka we de skata . |
| Prɔblɛm dɛn fɔ balans (Ataxia) . | I nɔ kin izi fɔ mek yu bɔdi balans ɛn fɔ mek yu gɛt wanwɔd. |
| Di sik dɛn we kin mek pɔsin sik | Bɔrku tɛm e kin bigin bitwin 2 ɛn 3 ia. |
| Ɔda sayn dɛm wae yu kin si | |
|---|---|
| Di kwaliti we pɔsin gɛt | Tɔk bɔt |
| I nɔ kin izi fɔ it pan yɔŋ pikin dɛn | I nɔ izi fɔ sok ɔ swɛla it. |
| Prɔblɛm dɛn we pɔsin kin gɛt we i de slip | We yu de wek bɔku tɛm, we yu nɔ de slip. |
| Skɔliosis we de mek pɔsin gɛt sik | Fɔ bɛn di spayna to di sayd. |
| Prɔblɛm dɛn we de na di dijestiv sistɛm | kכnstipeshכn כ rεflukshכn fכ bεlε asid insay di εsophagus (GERD) . |
| Prɔblɛm dɛn we gɛt fɔ du wit di yay | di ay muvmεnt dεm we dεn nכ de kכntro (nystagmus) , strabismus , εn fכ sεnsitiv to layt (fotophobia) . |
| Di kɔlɔ we de na di skin we de go dɔŋ (haypopigmentation) . | Skin, ia, ɛn yay kɔlɔ de layt pas aw i fɔ bi. |
Di spɛshal tin dɛn we dɛn kin si na dɛn pikin ya dɛn fes
- Short ɛn brayt skel `(brachycephaly)`
- Big tong `(macroglossia)`
- Smɔl pas di nɔmal ed (maykrosɛfali) .
- Di prɔgnathia we de na di mandibular
- Waid mɔt
- Big big gap dɛn bitwin di tit dɛn
Dɛn sayn ya kin sho mɔr as yu de ol.
Wetin mek di sik we dɛn kɔl Angelman Syndrome kin apin? Wetin na di kɔz?
Imajin se wi bɔdi gɛt wan sɛt fɔ instrɔkshɔn buk dɛn. Wi kin kɔl dɛn jin ya . Dɛn jin ya de kɔntrol ɔltin na wi bɔdi. di Angelman Syndrome de kכz fכ chenj כ difεkt na wan jin we dεn kכl `UBE3A` . dis jin rili imכtant fכ rεgεl di wok we wi nεv sεstem de wok.
Nɔmal wan, wi kin gɛt tu kɔpi fɔ ɛni jin, wan frɔm wi mama ɛn wan frɔm wi papa. Insay bɔku pat dɛn na di bɔdi, ɔl tu di kɔpi dɛn kin wok. כltu, na sכm εria dεm na di bren, na di kכpi fכ di jin `UBE3A` nכmכ we wi gεt frכm wi mama de aktif.
if di kכpi fכ di `UBE3A` jin we dεn gεt frכm di mama sכm kayn we dεn dכn dכn כ lכs, nכ fכnshכnal `UBE3A` jin de na dεn pat dεm na di bren. Dis na di praymar kɔz fɔ de sayn dɛm wae gɛt fɔ du wit Angelman Syndrome.
De impɔtant tin na dat dis sik nɔr kin kɔmɔt frɔm ɔda pipul dɛm. Dis min se ivin if nɔbɔdi nɔ de na di famili we gɛt dis sik, pikin kin gɛt am bikɔs ɔf wan random chenj na in jin.
Aw dɔktɔ dɛn kin no bɔt dis sik?
Bɔrku tɛm, de sayn dɛm fɔ dis sik nɔr kin no klia wan wae dɛn bɔn am. Bɔku tɛm, dɔktɔ dɛn kin no di sik we pikin ol bitwin wan ɛn 4 ia.
If di dɔktɔ notis se di pikin de gro sloslo, lɛk we i nɔ de tɔk di spid we fit in ej ɔ we i nɔ bigin fɔ waka, i go dawt. Dɔn i go tek tɛm luk aw di pikin de biev ɛn ɔda tin dɛn we de sho se i gɛt dis sik.
Fɔ kɔnfirm di diagnosis, dɛn nid fɔ du di jenɛtik tɛst . dis tεst dεm kin kכrekt fכ no if difεkt de na di `UBE3A` jin.
I pɔsibul fɔ misdiagnose dis sik?
Yɛs, sɔmtɛm i kin bi da we de, bikɔs di sayn dɛm fɔ Angelman Syndrome kin fiba sɔm ɔda mɛrɛsin dɛm.
- Ɔtizm spɛktrum disɔda
- Sɛribra palsi we pɔsin kin gɛt
- Prader-Willi sindrom we gɛt di sik
Bikɔs tin dɛn lɛk dis kin ɔvalap, i impɔtant fɔ tɛst di jɛnɛtiks fɔ mek dɛn no di sik kɔrɛkt wan.
Wetin na di tritmɛnt fɔ Angelman Syndrome?
Naw, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Angelman Syndrome. Bɔt bɔku tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik dɛn ɛn ɛp di pikin fɔ liv bɛtɛ layf.
- Antiseizure medications: Gi di mɛrɛsin dɛn we di dɔktɔ gi yu fayn fayn wan.
- Spich therapy: Fɔ ɛp di pikin fɔ tɔk wetin i tink bay we i de yuz sayn langwej, pikchɔ, ɛn spɛshal tin dɛn fɔ tɔk to pipul dɛn.
- Fizik tritmɛnt: I de ɛp fɔ mek yu ebul fɔ waka, balans, ɛn fɔ wok togɛda fayn fayn wan.
- Occupational therapy: Fɔ tren di pikin fɔ du di wok dɛn we i de du ɛvride fɔ insɛf ɛn fɔ bi indipɛndɛnt.
- Di tin dɛn we dɛn kin yuz fɔ ɛp pɔsin: Na fɔ yuz bres we dɛn kin wɛr na di bak, anklɛ, ɔ fut fɔ ɛp fɔ waka ɛn tinap.
- Fɔ prɔblɛm wit slip: Mek yu gɛt gud abit fɔ slip ɛn gɛt di abit fɔ go slip di tɛm we yu dɔn sɛt.
- Fɔ prɔblɛm dɛn we gɛt fɔ du wit di dijestiv: Gi di mɛrɛsin we di dɔktɔ tɛl yu fɔ it.
Di tritmɛnt we ɔl pikin nid difrɛn. Yu dɔktɔ go disayd di bɛst tritmɛnt plan bay di sik dɛn we yu pikin gɛt ɛn wetin i nid.
Wetin a go du fɔ kia fɔ mi pikin?
As mama ɛn papa, una gɛt big wok fɔ du.
- Gi di mɛrɛsin dɛn we di dɔktɔ gi yu di rayt tɛm ɛn di rayt doz.
- Mek shɔ se yu go na klinik dɛn we de chɛk aw yu pikin de gro.
- Mek yu pikin tek pat pan bɔdi, wok, ɛn tɔk tɛrapi.
- Mek shɔ se yu go to di dɔktɔ ɛni tɛm we yu dɔn plan fɔ mek yu go fɛn yu.
Pikin dɛm wae gɛt Angelman Syndrome kin nid ɛp fɔ du tin dɛm wae dɛn kin du ɛvride ɔlsay na dɛn layf. Di mɛdikal tim we de trit yu pikin go gi yu di sɔpɔt ɛn advays we yu nid.
Ustɛm yu nid fɔ go to dɔktɔ?
Pikin we gɛt dis sik nid fɔ de chɛk am ɔltɛm fɔ mek shɔ se di tritmɛnt ɛn tritmɛnt dɛn de wok fayn fayn wan. If yu notis ɛni nyu chenj ɔr yu pikin in sik dɛn de wɔs, mek yu dɔktɔ no wantɛm wantɛm.
Di tin we impɔtant pas ɔl: If yu pikin gɛt sik fɔ di fɔs tɛm, kɛr am go na di ɔspitul in Imejɛnsi Dipatmɛnt (ETU) wantɛm wantɛm.
Aw di pikin dɛn ya tumara bambay go tan lɛk?
Bɔrku pipul dɛm wae gɛt Angelman Syndrome kin gɛt nɔrmal layf. Dis min se dɛn nɔ kin day kwik bikɔs ɔf di sik. As di pikin de gro, sɔm tin dɛn go delay fɔ muv, tɔk, ɛn divɛlɔp. Bɔt, di pikin kin ebul fɔ ple, lan, ɛn wok wit ɔda pikin dɛn.
As big pipul, sɔm pipul dɛn kin liv fɔ dɛnsɛf wit sɔm sɔpɔt. Sɔntɛm ɔda pipul dɛn go nid fɔ kia fɔ dɛn ɔltɛm.
I ɔndastand fɔ fil ebi ebi lod we yu kam fɔ no se di fayn fayn smayl we yu pikin de smayl na sayn fɔ sik. Bɔt mɛmba se, ivin afta dis diagnosis, yu smɔl pikin go stil gɛt da swit smayl de, da swit smayl de. Di tin we impɔtant pas ɔl na fɔ pe atɛnshɔn to aw yu pikin de gro ɛn gi am di tritmɛnt we i nid di rayt tɛm, lɛk aw di dɔktɔ se. Yu dɔktɔ ɛn di mɛdikal tim go ɛp yu ɛvri step na di rod. So nɔr frayd fɔ aks kwɛstyɔn ɛn lan mɔr bɔt dis sik.
Mɛsej we dɛn kin kɛr go na os
- Angelman Syndrome na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. Nɔto ɛni fɔlt we di mama ɛn papa gɛt.
- Di men tin dɛm wae de sho dis na fɔ gladi ɔltɛm, fɔ smayl, fɔ delay fɔ divɛlɔp, ɛn fɔ gɛt prɔblɛm fɔ tɔk.
- Pan ɔl we nɔr kɔmplit mɛrɛsin fɔ dis sik, di tritmɛnt ɛn mɛrɛsin kin ɛp fɔ kɔntrol di sik ɛn gi di pikin gud layf.
- Di layf we dɛn pikin ya kin liv kin jɔs bi nɔmal tin.
- Fɔ no di sik kwik kwik wan ɛn fɔ bigin di tritmɛnt ɛn tritmɛnt savis dɛn rili impɔtant fɔ di pikin in fiuja.
- Ɔltɛm fala yu dɔktɔ in instrɔkshɔn ɛn go ɔl di klinik dɛn we dɛn dɔn sɛtul.
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