Angelman Syndrome: Di Stori Bihayn Yu Bebi in Smayl

Yu smɔl pikin kin smayl ɛn gladi ɔltɛm? Sɔntɛnde, i kin klap in an fɔ sho se i gladi? Yu go mɔs fil fayn we yu si am. Bɔt, yu no se sɔntɛnde biɛn dis kayn gladi fes, i kin gɛt wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di we aw i de gro, aw i de tɔk, ɛn aw i de waka? Tide, wi go tɔk bɔt wan pan dɛn kayn sik ya, we na Angelman Syndrome.

Wetin na di sik we dɛn kɔl Angelman Syndrome?

Fɔ tɔk am simpul wan, Angelman Syndrome na wan sik we nɔ kin apin so ɔltɛm . I kin afɛkt di we aw yu pikin de gro, aw i de tɔk, ɛn aw i de waka. Sɔm pikin dɛn kin gɛt sik we dɛn kɔl seizure.

Bɔt wetin spɛshal bɔt dis na dat bɔku tɛm dɛn kin si pikin dɛn we gɛt dis sik as pipul dɛn we rili gladi ɛn smayl . Dɛn kin smayl bɔku, laf lawd wan, ɛn sɔm tɛm dɛn kin mek ``han-flapping motions`` we dɛn kin gladi. We yu si dis, yu kin fil gladi bak, ɛn yu kin tink bak se, ‘O, dis gladi at we mi pikin gɛt go bi sayn fɔ sik?’ Na smɔl strenj filin, nɔto so?

Dis sik nɔr de mek yu pikin in layf de pan denja, dat min se i nɔr de gɛt bɛtɛ impak pan yu pikin in layf. Bɔt i kin mek nyu mama ɛn papa dɛn wɔri smɔl. As yu pikin de gro, i kin gɛt prɔblɛm dɛn we i de waka, tɔk, ɛn divɛlɔp. Bɔt gud tritmɛnt dɛn de we go ɛp yu fɔ kɔntrol dɛn sik ya ɛn liv nɔmal layf.

Aw di sik we dɛn kɔl Angelman Syndrome nɔ kin bɔku?

Dis na tin we nɔ kin apin so ɔltɛm. Fɔ tɔk smɔl, i kin afɛkt lɛk wan pan ɛvri 12,000 to 20,000 pikin dɛn .

Aw wi go no if wi pikin gɛt dis sik? (Sayn dɛn)

De sayn dɛm fɔ pikin dɛm wae gɛt Angelman Syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dɛn sayn ya kin chenj bak wit di ej. Lɛ wi luk di men sayn dɛm wae wi kin si.

Simptom dɛm wae yu kin si wae yu smɔl

Sɔntɛm yu go dɔn notis sɔm tin dɛn we yu pikin bin smɔl. Fɔ ɛgzampul:

• Divεlכpmεnt delay: I nɔ kin ebul fɔ du tin di sem paz lεk ɔda pikin dεm. Fɔ ɛgzampul, fɔ nɔ tɔk dɛn fɔs wɔd dɛn we dɛn ol lɛk wan ia so.
• i at fכ gi di pikin in bεlε: i kin at fכ lat di pikin.
• Ɔltɛm gladi ɛn smayl: Dis na di fɔs tin we bɔku pipul dɛn kin notis. Ɔltɛm i kin smayl, i kin klap we i gladi.
• Slip dizayd: Prɔblɛm kin kam wit aw pɔrsin kin slip.

Simptom dɛm wae yu kin si wae yu dɔn ol smɔl

As di pikin de ol smɔl, arawnd tu ɔ tri ia, ɔda sayn dɛn kin sho:

• Intɛlektual disabiliti: Dɛn kin si sɔm delay pan di abiliti fɔ lan.
• I nɔ kin izi fɔ tɔk: Sɔm pikin dɛn kin jɔs ebul fɔ tɔk sɔm wɔd dɛn, ɛn ɔda wan dɛn kin tɔkSɔntɛm yu nɔ go ebul fɔ tɔk wan wɔd (nɔto wɔd).
• Prɔblɛm fɔ waka: Yu kin waka wit wan we we nɔ izi fɔ waka, we gɛt bɔku bɔku tin dɛn fɔ waka, we yu nɔ balans fayn . Sɔntɛnde dɛn kin kɔl dis ataxia (prɔblɛm wit balans ɔ kɔdineshɔn).
• Di sik wae kin kam pan pɔrsin wae gɛt sik: Di sik kin bigin bitwin tu ɛn tri ia.
• di mכsul dεm we de chenj: I kin mek di mכsul dεm na di an εn leg dεm go bכku, כ di mכsul dεm na di trכnk kin dכn.
• Skoliosis: Yu kin si wan kɔba na di spayna.
• Prɔblɛm dɛn we de na di dijestiv sistɛm: Kɔnstipɛshɔn ɔ gastroesophageal reflux disorder (GERD) kin apin.
• Prɔblɛm dɛn na di yay: Tin dɛn lɛk nistagmus , strabismus , ɛn fotophobia .
• di skin in kכla de chenj (hypopigmentation): di skin kכla kin dכn na sכm say dεm.

Speshal tin dɛn we de sho aw pɔsin in fes tan

Dɛn pikin ya gɛt sɔm spɛshal tin dɛn bak pan dɛn fes, bɔt dɛn tin ya nɔto di sem fɔ ɔlman.

• Shɔt ɛn brayt skel (brachycephaly) .
• Tכng we big pas nכmal (macroglossia) .
• Smɔl pas di nɔmal ed (maykrosɛfali) .
• di protrushכn na di lכw jaw (mandibular prognathia) .
• Waid mɔt
• Tit dɛn we gɛt difrɛn difrɛn say dɛn

Dɛn sayn ya kin sho mɔr as yu de ol.

Wetin mek dis de apin? Wetin na di rizin dɛn?

Okay, naw lɛ wi si wetin de mek pɔsin gɛt Angelman Syndrome. Dis na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . i de kכz fכ wan chenj na di jin we dεn kכl UBE3A na wi bכdi.

fכ sכmtεm, dis `UBE3A` jin de instrכkt wi fכ prodyuz wan εnzym we dεn kכ l ubiquitin protin ligase E3A, we de εp wi nεv sistεm fכ wok. If dis jin dɔn pwɛl ɔ i nɔ de, di sayn dɛm fɔ Angelman syndrome de sho.

Nɔmal wan, wi kin gɛt tu kɔpi fɔ ɛni jin – wan frɔm wi mama, wan frɔm wi papa. insay mכst tisu dεm na wi bכdi, di tu kכpi dεm fכ dis `UBE3A` jin de aktv. Bɔt na sɔm patikyula say dɛn na di bren, na di kɔpi we wi mama kɔmɔt nɔmɔ de wok.so, if sכm kayn we di kכpi fכ dis `UBE3A` jin we yu gεt frכm yu mama dכn pwεl, כ if i lכs, den dεn pat dεm na di bren de lכs wan fכnshכnal kכpi fכ dis jin. Na da tɛm de di wok we di nervɔs sistɛm de wok kin afɛkt ɛn dɛn simptom ya kin apin.

Bɔku tɛm, dis nɔto sɔntin we kin apin na famili . Na wan chenj we de apin na di jɛnɛtiks we nɔ apin wantɛm wantɛm kin mek i apin. insay sכm kes dεm, i kin kכz fכ כda jεnεtik chenj we dεn nכ no yet in ad pan di `UBE3A` jin.

Aw dɔktɔ dɛn kin no dis kɔrɛkt wan?

Bɔrku tɛm, di sayn dɛm fɔ Angelman Syndrome nɔr kin klia we dɛn bɔn am. Dɔktɔ dɛn kin no di sik bitwin wan ɛn 4 ia . Bɔt sɔm tɛm dɛn de we dɛn kin no di sik we dɛn gɛt bɛlɛ.

sכmtεm dεn kin no dis kwik wit wan tεst we dεn kכl noninvasive prenatal screening (NIPS) we uman bεlε. di NIPS tεst de luk fכ pat dεm pan di pikin in DNA na di mama in bכdi εn i de ases di pikin in risk fכ divεlכp wan jεnεtik kכndishכn.

Bɔku tɛm dɔktɔ kin sɔprayz se dis sik de we di pikin nɔ ebul fɔ du di tin dɛn we i dɔn du fɔ mek i gro we fit in ej . Fɔ ɛgzampul, we dɛn nɔ de tɔk dɛn fɔs wɔd dɛn di rayt tɛm ɔ we dɛn nɔ bigin fɔ waka. Apat frɔm dat, di dɔktɔ go pe atɛnshɔn bak to di ɔda sayn dɛn we di pikin gɛt.

Fɔ kɔnfirm di diagnosis , dɛn nid fɔ tɛst di jɛnɛtiks . dis tεst dεm kin no di chenj dεm we de na di UBE3A jin. Sɔntɛnde, dɛn kin nid fɔ du ɔda tɛst fɔ no ɔda tin dɛn we kin mek pɔsin gɛt di sem kayn sik.

Yu tink se i kin bi se dɛn nɔ no di sik?

Yɛs, sɔmtɛm i kin bi misdiagnosis, bikɔs di sayn dɛm fɔ Angelman syndrome kin rili fiba di sayn dɛm fɔ ɔda sik dɛm. Fɔ ɛgzampul:

• Ɔtizm spɛktrum disɔda
• Sɛribra palsi we pɔsin kin gɛt
• Di sik we dɛn kɔl Christianson syndrome
• Mowat-Wilson sindrom `(Mowat-Wilson sindrom)`
• Phelan-McDermid sindrom `(Phelan-McDermid sindrom)`
• Pitt-Hopkins sindrom we gɛt di sik
• Prader-Willi sindrom we gɛt di sik

So, fɔ tɛst di jɛnɛtiks ɛn ɔda tɛst dɛn rili impɔtant fɔ mek dɛn no di sik kɔrɛkt wan .

Wetin na di tritmɛnt dɛm fɔ dis?

No mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Angelman Syndrome. Bɔt bɔku tritmɛnt dɛn de we go ɛp yu fɔ kɔntrol di sik dɛn we yu pikin gɛt. Dɛn tritmɛnt ya kin difrɛn frɔm wan pikin to ɔda pikin, bikɔs nɔto ɔlman gɛt di sem sayn.

Na sɔm tritmɛnt dɛn ya:

• Di mɛrɛsin dɛn we de mek pɔsin nɔ gɛt sik: Pikin dɛn we gɛt sik nid dɛn mɛrɛsin ya.
• Tɔk ɛn kɔmyunikeshɔn tɛrapi: Tin dɛn lɛk fɔ ɛp fɔ tɔk, ɛp fɔ lan sayn langwej, ɛn fɔ yus fɔ yuz spɛshal kɔmyunikeshɔn divays dɛn.
• Early Intervention and Educational Resources: Program dɛm we de ɛp pikin dɛm fɔ rich di divɛlɔpmɛnt maylston dɛm ɛn rich di edyukeshɔn gol dɛm.
• Fizik tritmɛnt: I de ɛp fɔ mek yu nɔ balans, fɔ wok togɛda, ɛn fɔ mek yu nɔ ebul fɔ waka.
• Occupational therapy: I de ɛp di pikin fɔ wok fɔ insɛf ɛn fɔ du di wok dɛn we i de du ɛvride.
• Di tin dɛn we yu go yuz fɔ sɔpɔt yu: Yu go nid fɔ yuz bres fɔ yu bak, yu anklɛ, ɛn yu fut.
• Spɛshal we fɔ gi pikin dɛn bɛlɛ: Tin dɛn lɛk spɛshal sup fɔ pikin dɛn we gɛt prɔblɛm fɔ gi pikin dɛn bɛlɛ.
• Fɔ mek yu gɛt gud abit fɔ slip: Fɔ gɛt di abit fɔ go slip di tɛm we yu dɔn sɛt.
• Mεdisin dεm we de εp di dijestiv sistεm: Mεdisin dεm we de εp fכ muv di it fכ muv tru di bכdi fayn fayn wan.

Yu pikin in dɔktɔ go disayd us tritmɛnt we go fayn fɔ yu pikin.

Aw fɔ kia fɔ pikin we gɛt Angelman Syndrome?

We yu de kia fɔ pikin we gɛt Angelman syndrome, i rili impɔtant fɔ fala wetin di dɔktɔ tɛl yu fɔ du.

• Gi mɛrɛsin lɛk aw dɛn tɛl yu fɔ gi am.
• Fɔ du divɛlɔpmɛnt asɛsmɛnt dɛn lɛk aw dɛn kin se.
• Fɔ tek pat pan fizik tɛrapi, ɔkupeshɔn tɛrapi, ɛn tɔk tɛrapi.
• Go si dɔktɔ pan de dɛn we dɛn dɔn sɛtul.

Dɛn pikin ya kin nid ɛp fɔ du tin dɛn we dɛn kin du ɛvride ɔlsay na dɛn layf. Yu pikin in mɛdikal tim go ɛp yu wit ɔltin, ansa yu kwɛstyɔn dɛn, ɛn tɛl yu bɔt sɔpɔt grup dɛn we go ɛp yu.

Us tɛm yu nid fɔ go to dɔktɔ?

If yu pikin gɛt Angelman syndrome, yu fɔ go to yu mɛdikal tim ɔltɛm fɔ mek shɔ se di tritmɛnt ɛn tritmɛnt dɛn de wok fayn fayn wan.

• If yu notis ɛni nyu sayn ɔ if yu fil se wan sik we yu dɔn gɛt de wɔs, tɛl yu dɔktɔ wantɛm wantɛm.
• If yu pikin gɛt sik fɔ di fɔs tɛm , yu fɔ kɛr dɛn go na di imejensi rum wantɛm wantɛm.

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

Wae yu dɔn no se yu pikin gɛt Angelman syndrome, na sɔm kwɛstyɔn dɛn ya yu kin aks di dɔktɔ:

• Wetin na di bɛst tritmɛnt fɔ kɔntrol mi pikin in sik?
• Aw a go ɛp mi pikin fɔ tɔk to am fayn fayn wan ?
• If a de plan fɔ bɔn ɔda pikin, a go tink bɔt fɔ tɛst mi jɛnɛtiks ɔ fɔ advays mi jɛnɛtiks.Yu want fɔ du am?
• Aw a go ebul fɔ plan di bɛst we fɔ di sɔpɔt we mi pikin go nid tumara bambay?
• Yu kin rɛkɔmɛnd wan sɔpɔt grup?

Yu tink se dɛn go ebul fɔ stɔp dis?

di εnεlman sεndrכm nכ kin kכmכt biכs i de kכz fכ random jεnεtik chenj dεm we de apin di tεm we di pikin de fכm. Bɔku tɛm, i kin apin fɔ no rizin.

Na smɔl tɛm nɔmɔ, sɔm pipul dɛn kin gɛt dis sik. If yu de plan fɔ bɔn pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jenɛtiks fɔ ɔndastand di prɔblɛm we kin apin we yu gɛt pikin we gɛt wan sik we kin kɔmɔt frɔm yu jɛnɛtiks ɔ chenj na yu jɛnɛtiks we yu kin gɛt frɔm yu mama ɛn papa.

Wetin yu gɛt fɔ se bɔt di layf we dɛn pikin ya de liv?

Bɔrku pipul dɛm wae gɛt Angelman Syndrome kin gɛt nɔrmal layf . Dis min se pɔrsin wae gɛt dis sik nɔr kin day kwik pas pɔrsin wae nɔr gɛt dis sik. Bɔt di kayn we aw di sik kin tranga kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Sɔntɛnde, di prɔblɛm dɛn we kin kam we pɔsin kin gɛt siriɔs sik ɔ siriɔs injury we pɔsin kin gɛt we i fɔdɔm kin mek pɔsin in layf de pan denja. Yu pikin in mɛdikal tim go gi yu tritmɛnt fɔ mek dɛn tin ya nɔ apin ɛn fɔ mek yu pikin sef.

So, aw tumara bambay go tan lɛk?

Dɔktɔ dɛn kin tink bɔt bɔku tin dɛn we dɛn de tɔk bɔt aw yu pikin go bi tumara bambay. Yu kin op se sɔm tin dɛn go delay fɔ waka, tɔk, ɛn divɛlɔp as yu pikin de gro. Bɔt yu pikin go ebul fɔ tek pat pan di tin dɛn we dɛn kin du, ple, ɛn lan wit ɔda pikin dɛn we dɛn ej.

Sɔm big pipul dɛm wae gɛt dis sik kin liv fɔ dɛnsɛf, ɛn ɔda pipul dɛm kin nid sɔpɔt fɔ kia fɔ dɛn as dɛn de ol. So, yu pikin in dɔktɔ na di bɛst pɔsin fɔ no wetin fɔ ɛkspɛkt insay di ia dɛn we de kam.

I kin tranga ɛn i kin tranga fɔ no se di we aw yu pikin de smayl ɔltɛm ɛn in fes we gladi, na rili sayn dɛn fɔ se i gɛt wan sik we de insay in jɛnɛtiks. Bɔt yu pikin kin stil de smayl ɛn gladi ivin afta dɛn dɔn no se i gɛt wan sik we dɛn kɔl Angelman Syndrome . Di tin we impɔtant pas ɔl na fɔ kɛr yu pikin go to dɔktɔ ɔltɛm fɔ mek shɔ se i de go bifo pan di pawa we i nid. Yu pikin in mɛdikal tim go de wit yu ɛvri step na di rod. Nɔr shem fɔ aks kwɛstyɔn fɔ no mɔr bɔt de sik ɛn fɔ no bɔt de tumara bambay.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Angelman Syndrome na wan sik wae nɔr kin bɔrku pan pɔrsin in jɛnɛtiks, bɔt i nɔr kin mek pɔrsin in layf de pan denja. If i tan lɛk se yu pikin gladi ɛn de smayl ɔltɛm, bɔt i nɔ de gro fayn, i nɔ ebul fɔ tɔk, ɔ i nɔ de waka fayn, i impɔtant fɔ tɔk to dɔktɔ bɔt dat.

• Fɔ no di pikin kwik kwik wan ɛn bigin fɔ gi di tritmɛnt we i nid, dat kin ɛp fɔ mek di pikin in layf bɛtɛ.
• Fɔ di pikinTin dɛm lɛk tɛrapi fɔ tɔk, fɔ trit yu bɔdi, ɛn ɔkupeshɔn tɛrapi kin ɛp bɔku.
• Nɔto yu wan de. Sɔpɔt grup ɛn advays frɔm dɔktɔ dɛn go bi big trɛnk fɔ yu pan dis joyn.
• Di gladi at we yu pikin gɛt ɛn di laf we i de laf, na in go mek yu kɔrej pas ɔl. Protɛkt da gladi at de ɛn tray fɔ gi yu pikin di bɛst. I rili impɔtant fɔ gɛt gud abit.

` Angelman Syndrome, jεnεtik sik dεm, pikin divεlכpmεnt, divεlכpmεnt dεlay, tכk tεrapi, sεiz, UBE3A jin, gladi fεs