Yu smɔl pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Alagille Syndrome!

Yu dɔn ɛva tink se sɔntɛnde sɔm pan di sik dɛn we wi smɔl pikin dɛn kin gɛt kin kɔmplikt smɔl? Wɛl, wan pan dɛn kayn sik ya we yu nid fɔ kia fɔ smɔl, bɔt yu kin ebul fɔ kɔntrol am if yu ɔndastand di rayt we, dɛn kɔl am Alagille Syndrome. Dɛn kin kɔl dis bak Alagille-Watson syndrome. Dis na jɛnɛtik kɔndishɔn, we min se na sɔntin we wi kin gɛt frɔm wi mama ɛn papa. I kin afɛkt wi liva ɛn at mɔ. Bɔt ɔda pat dɛn na di bɔdi kin afɛkt bak. Lɛ wi tɔk mɔ bɔt dis, nɔto so?

Wetin na di Alagille Syndrome rili?

Fɔ tɔk am simpul wan, Alagille Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dis kin mek wi liva nɔ wok fayn, ɛn i kin mek sɔm chenj ɛn wikɛd tin dɛn na di we aw di at tan, dat na di we aw di at de mek. Sɔm pikin dɛm wae dɛn kin bɔn wit dis sik kin gɛt sɔm patikyula tin dɛm wae dɛn kin luk. Sɔm pan de prɔblɛm dɛn we kin kam wit dis kin rili denja ɛn ivin kin mek pɔsin in layf de pan denja. Na dat mek i rili impɔtant fɔ no bɔt dis.

Us pat na di bɔdi di Alagil Syndrome kin afɛkt?

Wi dɔn tɔk se dis kin mɔs afɛkt di liva ɛn at. Bɔt, nɔto dat nɔmɔ. I kin afɛkt bak di divɛlɔpmɛnt fɔ sɔm ɔda impɔtant pat dɛn na yu bɔdi. Dɛn tin ya na:

• At: Prɔblɛm wit di at valv ɛn blɔd vesel kin apin.
• Kidni: Tin dεm lεk di kidni shrinkage εn sist fכmeshכn.
• Pankrias: Di wok we di pankrias de du we de ɛp fɔ digest, kin ambɔg bak.
• Ay: Sɔm pipul dɛn we nɔ de si fayn.
• Skel: Sכm chenj dεm na di bon dεm lεk di spayna.
• Blɔd vesel dɛm: Prɔblɛm kin apin bak na di blɔd vesel dɛm na di bren.

Udat kin gɛt dis sik? Aw i kɔmɔn?

Alagille Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dis min se if pikin gɛt di jin frɔm in mama ɔ in papa, di pikin kin gɛt dɛn sik ya. dכkta dεn kכl dis wan ``autosomal dominant'' patεn fכ inhεrit. Dis min se ivin if wan pan di mama ɛn papa gɛt di jin, di pikin kin stil gɛt dis sik. Bɔrku tɛm, bitwin 30% ɛn 50% pan di kes dɛm kin pas frɔm famili to famili dis we.

Bɔt sɔntɛnde, i kin kam pan pɔsin we nyu, ilɛksɛf nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo. Dis min se i kin apin we yu nɔ gɛt ɛni famili istri.

We yu tink bɔt aw dis kin apin, dɛn se dis sik kin afɛkt lɛk wan pan ɔl 30,000 to 45,000 pipul dɛm.Bɔt dis nɔto di rayt amɔnt, bikɔs sɔm tɛm dɛn kin go we dɛn nɔ no se i gɛt am, ɔ dɛn kin mistek kɔl am ɔda sik bikɔs na di sayn dɛn we rili bad nɔmɔ dɛn kin trit.

Aw Alagille Syndrome kin afɛkt mi bɔdi?

De sayn dɛm fɔ Alagille Syndrome kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Dis min se nɔto ɔlman wae gɛt dis sik go gɛt di sem sayn dɛm. Wetin kin apin na dat di bayl dakt dεm na wi liva nכ de divεlכp fayn. Dɛn kin shɔt, dɛn kin smɔl, ɔ dɛn nɔ kin gɛt bɛtɛ bayl dakt. dis bayl dakt dεm na di wan dεm we de kכri bayl we dεn prodyuz na di liva – wan wata we de εp fכ digεst di fεt dεm we de insay di it we wi de it – to di gal blad εn sכmכl intestin. So, we dεn bayl dakt ya stכp fכ wok fayn, di bayl de trכp insay di liva. Dɔn di liva kin bigin fɔ pwɛl .

Semweso, dis kin afɛkt di at bak. Jɔs lɛk aw di bayl dakt dɛn kin smɔl, na so di at valv ɛn blɔd vesel dɛn kin smɔl ɛn chenj kin apin. Dis kin ambɔg di blɔd we de kɔmɔt na di at to di ɔda pat dɛn na di bɔdi, ɛn di ɔksijɛn nɔ kin go fayn.

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

Dɛn sayn ya kin apin we dɛn smɔl ɔ we dɛn smɔl . Bɔt, dɛn nɔ kin apia te i big. De kayn sik kin difrɛn ivin insay di sem famili.

Simptom dɛm we gɛt fɔ du wit di liva

Dɛn dɔn tɛl wi se Alagille Syndrome kin mek yu liva pwɛl. We di liva dɔn pwɛl, yu kin si sɔm sayn dɛn lɛk dis:

• di skin εn di yay dεm we de yכlכ – wi kכl dis janda (כ icterus).
• Di skin kin it bad bad wan.
• yכlכ, fεt dεposit dεm (lεk lumps) na di skin sεf (xanthomas).
• Dak urine.

Dis liva damej kin apin bikɔs di bayl dakt dɛn nɔ de, dɛn smɔl, ɔ dɛn nɔ de fɔm fayn. dis bayl dakt dεm de kכri bayl, we na wata we de εp fכ digεst di fεt, frכm di liva to di gal blad εn sכmכl intestin. we dεn dakt dεm ya nכ de wok fayn, di bayl de bכku na di liva. Di liva nɔ kin ebul fɔ du in wok fayn fayn wan, we na fɔ pul dɔti tin dɛn we de na di blɔd.

Bikɔs di bɔdi nɔ kin ebul fɔ tek di fat ɛn sɔm vaytamɛn dɛn fayn fayn wan (espɛshali A, D, E, ɛn K), ɔda sayn dɛn kin apin:

• Bɔn dɛn we wik.
• Ridyus growth, no ayt gain.
• di prכblεm dεm we yu de si (sεf we i de afekt di kכnia εn di rεtina).
• Prɔblɛm wit bɔdi balans ɛn muvmɛnt.
• Di tendency fɔ mek blɔd klɔt.
• Divɛlɔpmɛnt dilɛys.
• Liva skata (sirosis).

Na lɛk 15% pan di pipul dɛm wae gɛt Alagille Syndrome kin gɛt prɔblɛm wae de mek dɛn layf de pan denja lɛk siriɔs liva sik ɛn liva nɔr de woke fayn.

Di sayn dɛm we gɛt fɔ du wit di at

Alagille Syndrome kin afɛkt di at ɛn aw i de wok bak. Dis min se:

• di pulmonary artery stenosis na we di bכdi we de kכri bכdi frכm di at to di lכng dεm we de sכmtεm sכm.
• Chenj dεm na di strכkchכ na di at. fכ egzampl, wan ol bitwin di tu lכw chεmba dεm na di at (ventricular septal defect), כ we di tכb we de kכri bכdi go na di lכng, wan ol bitwin di chεmba dεm na di at, chenj na di posishכn fכ di men bכdi vεsul (aorta), εn wan rayt vεntrikul we big (tetralogy of Fallot).
• Abnɔmal at sawnd (at de grɔmbul).
• di blu kכla na di skin (cyanosis) bikoz di כksijεn lεvεl dεm we de na di bכdi lכw.

Di tin dɛn we pɔsin kin si na di fes ɛn di bɔdi

Pikin dɛn we dɛn bɔn wit Alagille Syndrome gɛt sɔm difrɛn tin dɛn na dɛn fes:

• Di distans bitwin di yay dɛn big, di yay dɛn de dip.
• Chin we gɛt pɔynt, we dɛn kin kɔl.
• Big fɔrɛst.

Ɔda sayn dɛm wae yu kin si na di bɔdi na:

• Di tin dɛn we nɔ kin apin na di skel. Fɔ ɛgzampul, bɔtaflay vertebra.
• Risk fɔ blɔd ɛn strok na di bren bikɔs ɔf di abnɔmal tin dɛm na di blɔd vesel dɛm na di bren.
• wan big at na di bren de sכmtεm sכmtεm (Moyamoya syndrome).
• Kidni prɔblɛm (shrinkage, sist, limited function).
• di pankrias nכ de ebul fכ brok dכn fayn fayn wan εn tek di nyutriεnt dεm frכm it.

Yu tink se Alagille Syndrome kin afɛkt di we aw pɔsin de tink?

Na lɛk 2% pan di pikin dɛn we gɛt Alagil Syndrome gɛt prɔblɛm wit dɛn maynd . Bɔt sɔm pikin dɛn (lɛk 16%) kin gɛt smɔl delay fɔ divɛlɔp gros mɔta maylston, lɛk fɔ waka. Bɔt dis nɔto disabled intɛlektual.

Wetin kin mek pɔsin gɛt Alagille Syndrome?

כl di kes dεm, mכr dan 90% pan di kes dεm we dεn gεt Alagille Syndrome na prכblεm wit di jin JAG1. Dis kin bi muteshon na di jin ɔ dilit. כda 2% to 3% gεt mכtεshכn na di jin NOTCH2. כltu, fכ lεk 3% pan di kes dεm, dεn stil nכ no di εksakεt jεnεtik kכz.

dis jin dεm we dεn kכl `JAG1` εn `NOTCH2`, de instrכkt wi sεl dεm fכ prodyuz protin dεm we nid fכ bil difrεn pat dεm na di bכdi we di εmbrayo stej de. if mכtεshכn de insay dεn tu jin dεm ya, כ if jεnεtik mεtirial de lכs na di pat pan di kromozom 20 usay di `JAG1` jin de, di sεl dεm nכ de gεt dεn instrכkshכn dεm de fayn fayn wan. dis na we di sayn dεm lεk di strכkchכral dεfekt na di at, di bayl dakt dεm we de sכmtεm sכmtεm, εn di skel abnכmaliti dεm de sho.

Aw dɛn kin no se pɔsin gɛt Alagille Syndrome?

I kin tranga fɔ no bɔt Alagille Syndrome bikɔs de sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Fɔ no if yu gɛt dis sik kin bigin wit wan kɔmplit mɛdikal histri ɛn fɔ chɛk yu sik dɛn gud gud wan. Dɔktɔ kin tink se yu gɛt Alagille Syndrome if yu gɛt at le tri pan dɛn sayn ya:

• abnכmal shep dεm fכ di bayl dakt dεm.
• Liva sik ɔ blok di bayl flɔ (cholestasis).
• At sik.
• Di tin dɛn we nɔ kin apin na di skel.
• Prɔblɛm dɛn we pɔsin kin gɛt we i de si.
• Difrɛn tin dɛn we pɔsin kin si na in fes.

Dɛn kin du sɔm tɛst dɛn fɔ kɔnfirm di diagnosis:

• Fɔ tek smɔl pat pan di liva fɔ ɛgzamin (liva bayɔpsi).
• Blɔd tɛst dɛn.
• Wan ay ɛgzam.
• Wan spayna X-ray.
• Wan bɛlɛ ɛn/ɔ at ɔltrasɔund.
• Wan tɛst we dɛn kin du fɔ tɛst pɔsin in jɛnɛtiks.
• Test dɛn we di kidni de du.
• Test fɔ di wok we di pankrias de du.

Aw a go no if mi pikin gɛt Alagille Syndrome ɔ Biliary Atresia?

Alagille Syndrome ɛn Biliary Atresia gɛt di sem kayn sayn dɛm. insay Alagille Syndrome, di fכ fכlכ di bayl dεm tru di bayl dכkt dεm na di sכmכl intestin dεm de sכmtεm, εn di bayl de bכku na di liva. Biliary Atresia kin kam bak we di bayl dakt dεm dכn pwεl כ skata, we kin mek yu gεt di sem simptom dεm. Nyu bכn pikin dεm kin gεt di sem kayn sayn dεm na dεn tu kכndyushכn dεm:

• Urin we gɛt dak kɔlɔ.
• Stul dɛn we gɛt layt kɔlɔ.
• Di bɛlɛ we de blo.
• Jandis kin de fɔ sɔm wiks afta dɛn bɔn am.

Bebi dεm we gεt biliary atresia kin gεt כda dεfεkt dεm bak we dεn bכn, lεk Alagille Syndrome, εn bak dεn at, kidni, εn splin dεm we nכ de nכmal. sכm stכdi dεn sho se di sem jin we dεn kכl JAG1 we de mek Alagille Syndrome kin involv insay biliary atresia.

Bikɔs biliary atresia kin bɔku pas Alagille syndrome, ɛn bikɔs nɔto ɔl di tin dɛn we Alagille syndrome kin du kin apin we dɛn smɔl, dɔktɔ dɛn kin fɔs tink se biliary atresia. Bɔt di tritmɛnt fɔ ɔl tu di sik dɛn na di sem . If leta yu pikin gɛt ɔda sayn dɛm fɔ Alagille syndrome, dɛn kin no se i gɛt am da tɛm de.

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

Nɔr patikyula mɛrɛsin nɔr de fɔ dis sik yet.. So, di tritmɛnt de fɔ kɔntrol di sayn dɛm wae de kam. Dat min se, na di sayn dɛm wae de sho aw pɔrsin de trit am. Dɛn kin du dɛn tin ya as tritmɛnt:

• Fɔ gi vaytamɛn A, D, E ɛn K.
• fכ gi pikin dεm fכmula we gεt ``mεdiכm-chεn triglisεrayd'' we kin abzכp nyutriεnt dεm fayn fayn wan.
• fכ it tru wan gastrostomy tכb כ wan nasogastric tכb fכ delivεr it dεn wan dεm dεn wan insay di dijestiv sistεm.
• Fɔ gi mɛrɛsin (ursodeoxycholic acid) we de mɛn liva sik.
• Yuz mɛrɛsin fɔ trit it (e.g. antihistamine, cholestyramine, naltrexone, rifampin) ɛn mɔstizayza ɔ loshan fɔ wet di skin.
• pat pan di biliary divεshכn na כpεrayshכn fכ chenj di rod fכ bayl bitwin di liva εn di intestinal trakt.
• Ɔpreshɔn fɔ di kɔndishɔn dɛn we de afɛkt di at, di blɔd vesel dɛn, ɛn di kidni dɛn.

If Alagille Syndrome mek di liva pwɛl bad bad wan ɛn di liva nɔ de wok fayn, i kin nid fɔ mek dɛn transplant di liva.

Aw a kin liv wit ɛn manej mi sik dɛn?

Bikɔs di sayn dɛm kin difrɛn fɔ ɔlman wae gɛt dis sik, yu dɔktɔ go disayd us tritmɛnt fayn fɔ yu. I impɔtant fɔ mek yu de chɛk yu at ɛn yu liva ɔltɛm fɔ chɛk if yu at ɛn yu liva gɛt wɛlbɔdi. If yu dɔktɔ bigin yu fɔ tek nyu tritmɛnt, yu go nid fɔ go to yu dɔktɔ bak insay sɔm wiks fɔ si aw i de wok fayn ɛn us sayd ɛfɛkt i gɛt. Bɔrku tritmɛnt kin woke bay wae dɛn kin ridyus de sik, ɛp yu fɔ fil fayn, ɛn nɔr kin gɛt siriɔs prɔblɛm wae kin mek yu layf de pan denja.

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

Bikɔs dis na sik we pɔsin kin gɛt we i de chenj in jɛnɛtiks, fɔ tru, no we nɔ de fɔ mek i nɔ apin . If pɔrsin na yu famili gɛt Alagil Syndrome, ɔr if yu de ɛkspɛkt pikin ɛn yu want fɔ no yu risk fɔ pas di jenɛtik kɔndishɔn to yu pikin, tɔk to yu dɔktɔ bɔt jenɛtik tɛst.

Us kayn tumara bambay pɔrsin wae gɛt Alagil Syndrome kin ɛkspɛkt?

Nɔr patikyula mɛrɛsin nɔr de fɔ Alagille Syndrome, bikɔs na sik wae de kam fɔ ɔl yu layf . Di tritmɛnt na fɔ kɔntrol di sayn dɛm, fɔ gi kɔmfɔt, ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn we go mek pɔsin in layf de pan denja.

I rili impɔtant fɔ no dis sik kwik kwik wan ɛn bigin fɔ trit am. Dis kin mek di tin dɛn we kin apin nɔ bɔku.

Pipul wae gɛt siriɔs liva sik ɛn at sik kin gɛt shɔt layf. Bɔt naw, bɔku tritmɛnt dɛn de we go ɛp fɔ mek dis sik nɔ kam bak.

Pipul dɛn we gɛt Alagil Syndrome fɔ go to dɛn dɔktɔ ɔltɛm fɔ mek dɛn chɛk dɛn ɔltɛm . Dis kin ɛp fɔ no if de sik de mek yu gɛt sayn dɛm wae de mek yu layf de pan denja ɛn aw tritmɛnt de woke fayn. Di skrinin dɛn we dɛn kin du ɔltɛm kin inklud:

• Wan ɔltra saund ɛgzamin fɔ di at (ɛkokardiogram).
• wan ɔltra saund fɔ di bɛlɛ (liva ɛn kidni).
• Ɛkzamin fɔ di yay ɛvri ia.
• Wan MRI skan fɔ di blɔd vesel dɛn na di bren.

Wetin na di layf we pɔsin we gɛt Alagil Syndrome kin liv?

Bɔrku pipul dɛm wae gɛt smɔl smɔl sayn dɛm fɔ Alagille Syndrome kin liv nɔrmal layf span . Bɔt di wan dɛn we gɛt siriɔs sik kin gɛt smɔl layf.

Tɔk to yu dɔktɔ bɔt yu sik dɛn. Bɔku tɛm, i go ɔda fɔ mek dɛn du tɛst fɔ chɛk aw di ɔgan dɛn we de insay yu de wok. Di men gol fɔ tritmɛnt na fɔ mek dɛn nɔ gɛt sayn dɛn we go mek pɔsin in layf de pan denja.

Ustɛm a fɔ go to mi dɔktɔ?

If dɛn dɔn no se yu gɛt Alagille Syndrome ɛn yu gɛt ɛni wan pan dɛn sayn ya we de sho se yu liva dɔn pwɛl, go to dɔktɔ wantɛm wantɛm:

• If yu skin ɛn/ɔ yu yay tɔn yɔlɔ.
• If di skin de it bad bad wan fɔ no patikyula rizin.
• If fεt dεposit dεm (yכlכsh lכmp dεm) de sho na di sεf fכ di skin.
• If yu urine dak pas aw i fɔ bi.

If yu de gɛt ɛni sayn fɔ Alagille Syndrome wae de mek i nɔr izi fɔ yu fɔ du yu ɛvride woke, go to yu dɔktɔ kwik kwik wan. I impɔtant bak fɔ tɛl yu dɔktɔ if yu pikin we gɛt Alagille Syndrome sho ɛni divɛlɔpmɛnt maylston we i smɔl ɔ we i smɔl.

Ustɛm a fɔ go na di Imejɛnsi Tritmɛnt Yunit (ETU) ?

Alagille Syndrome kin mek yu gɛt hat sik wae kin mek yu layf de pan denja . If yu gɛt ɛni wan pan dɛn sayn ya, go na di imejensi rum wantɛm wantɛm:

• If yu at nɔ de bit ɔltɛm.
• If yu gɛt prɔblɛm fɔ blo.
• If yu skin, yu lip, ɔ yu nel dɛn tan lɛk blu.

Sɔm pipul dɛm wae gɛt Alagil Syndrome kin gɛt mɔr risk fɔ gɛt strok. If yu gɛt ɛni wan pan dɛn sayn ya fɔ strok, kɔl 911 wantɛm wantɛm (ɔ go na di imejensi rum we de nia yu):

• If yu fil se yu nɔ de fil fayn na wan say na yu bɔdi.
• If i nɔ izi fɔ yu fɔ tɔk, ɔ if yu wɔd dɛn kin stɔp.
• If chenj de apin wantɛm wantɛm na di yay.
• Diziz, lɔs fɔ balans, kɔdineshɔn prɔblɛm.
• Wan bad bad ed we de at.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu go to yu dɔktɔ, yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Aw di sik dɛn we a kin gɛt kin rili bad?
• Yu tink se a go nid ɔpreshɔn?
• Ustɛm a fɔ kam bak fɔ si aw di tritmɛnt go wok fayn?
• Wetin na di sayd ɛfɛkt dɛm fɔ di tritmɛnt dɛm wae yu bin gi yu?

Mɛmba se, Alagille Syndrome nɔr kin afɛkt ɔlman di sem we. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɛn ɔda wan dɛn kin gɛt siriɔs sik wae kin nid fɔ gɛt mɔ tritmɛnt ɔr ɔpreshɔn. So wok klos wit yu dɔktɔ fɔ gɛt di kia we yu nid. I impɔtant fɔ kip kɔmpin wit yu ɔltɛm skrinin fɔ manej di sayd ɛfɛkt ɛn di sayn dɛm we kin mek yu layf de pan denja.

Mɛsej we dɛn kin kɛr go na os

Alagille Syndrome na wan sik wae de kam pan pɔrsin in jɛnɛtiks. I kin afɛkt di liva ɛn at mɔ. Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Pan ɔl we no mɛrɛsin nɔ de, tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik dɛn ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn we go mek pɔsin in layf de pan denja. I impɔtant fɔ no di sik kwik kwik wan ɛn fɔ trit yu, ɛn yu fɔ fala yu dɔktɔ in advays. If yu ɔ yu pikin gɛt ɛni wan pan dɛn sik ya, nɔ fred fɔ go to dɔktɔ ɛn gɛt ɛp. Mɛmba se nɔto yu wan de, ɛn dɔktɔ ɛn pipul dɛn de we yu lɛk we go ɛp yu fɔ du dis waka.

` Alagille Syndrome, Jɛnɛtik Sik, Liva Sik, At Sik, Pikin Sik, Jandis