Yu smɔl pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Prader-Willi Syndrome

Sɔntɛm yu bin dɔn gɛt sɔm tin dɛn we de mɔna yu pikin bɔt aw i de gro ɛn aw i de gro, ɔ aw i de it ɛn drink. Sɔm bebi dɛn nid smɔl spɛshal kia. Tide, wi go tɔk bɔt wan rare bɔt impɔtant kɔndishɔn we yu fɔ no bɔt.

Wetin na di sik we dɛn kɔl Prader-Willi Syndrome?

Fɔ tɔk am simpul wan, Prader-Willi Syndrome (PWS) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di pikin in mɛtabolism. I kin mek di pikin chenj ɛn di we aw i de biev.

yכŋ pikin we gεt dis kכndyush כn gεt bכku bכku mכsul tכn (hypotonia). Dis min se di bɔdi kin fil bad bad wan. I kin at fɔ mek yu gi pikin milk ɛn it tin fɔ it fɔs. Bɔt bitwin tu ɛn siks ia, pɔsin kin bigin fɔ want fɔ it we nɔ fayn, ɔ angri ɔltɛm (hyperphagia). If dɛn nɔ kɔntrol di it fayn, dis we aw pɔsin de it pasmak, dat kin mek di pikin big pasmak, ɔ i kin fat bad bad wan.

pan tap dat, PWS kin mek pikin mis di nכmal divεlכpmεnt maylston dεm εn delay fכ bכn. Na smɔl tɛm nɔmɔ, prɔblɛm dɛn kin apin we kin mek pɔsin in layf de pan denja, lɛk prɔblɛm wit di we aw pɔsin de blo, prɔblɛm wit di at ɛn blɔd we kin kam bikɔs i fat, we i nɔ kin ebul fɔ blo fayn we i de slip, ɛn dayabitis.

Udat dɛn dis kayn tin kin afɛkt mɔ?

Fɔ tru, dis sik we dɛn kɔl Prader-Willi syndrome kin apin to ɛnibɔdi. Bikɔs na jɛnɛtiks, bɔku tɛm i kin apin randomly, we min se i kin apin fɔ natin we di jem sɛl dɛn de fɔm. Na smɔl tɛm nɔmɔ, dɛn kin gɛt am if pɔsin na di famili dɔn gɛt dis sik bifo.

Aw kɔmɔn tin na Prader-Willi Syndrome?

Dis na tin we nɔ kin apin so ɔltɛm. If yu luk ɔlsay na di wɔl, na lɛk wan pan ɛvri 10,000 to wan pan ɛvri 30,000 bebi dɛn. So, yu kin imajin aw dis nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm wae de sho se yu gɛt Prader-Willi Syndrome?

Di we aw PWS kin afɛkt ɛnibɔdi kin difrɛn, bɔt sɔm kɔmɔn sayn dɛn de.

di sayn dεm we dεn kin si we dεn bεlε:

Sɔm pan dɛn sayn ya kin si am jɔs afta dɛn bɔn di pikin:

• Wik kray .
• Taya ɔltɛm ɛn taya.
• I nɔ izi fɔ sok ɛn it (Poor feeding ability).
• Wan bɔdi we nɔ gɛt bɛtɛ trɛnk , ɔ we nɔ gɛt mɔsul dɛn (`hypotonia`). I kin tan lɛk se yu bɔdi de drɔp lɛk dɔl.

di kayn we aw di pikin de gro:

Sɔntɛnde, dɛn kwaliti ya kin de we dɛn bɔn am, bɔt dɛn kin sho mɔ as di pikin de big:

• Ay dɛn we tan lɛk amɔnd .
• Wan lɔng ɛn smɔl ed.
• Wan mɔt we gɛt tri an.
• Fɔ shɔt smɔl pas ɔda pikin dɛn (shɔt ayt).
• Smɔl an ɛn fut.
• di jεnital dεm we nכ de divεlכp.

Kכntribyushכn dεm we de afekt di pikin in divεlכpmεnt εn bihayvya:

Dis na di kwaliti dɛm wae mama ɛn papa kin fil mɔr sɔmtɛm, ɛn kin tranga smɔl:

• Fɔ vɛks bad bad wan , fɔ fil bad ɔ fɔ mek yu trangayes.
• Intɛlektual disabiliti: Dis min se i kin tek sɔm tɛm fɔ lan ɛn ɔndastand nyu tin dɛn.
• Obsessive or compulsive bihayvya lɛk fɔ pik skin .
• Di prɔblɛm dɛn we pɔsin kin gɛt we i de slip. Sɔntɛnde, yu kin fil bad bad wan na de, ɛn na nɛt, i kin tan lɛk se yu nɔ ebul fɔ slip.
• Prɔblɛm fɔ it. Dis na di sayn we de sho se yu gɛt dis sik pas ɔl. No mata aw yu it, yu nɔ de fil ful. Dis kin mek pɔsin it pasmak (hyperphagia).

Imajin aw i go tranga if yu pikin, ilɛksɛf i it bɔku, kɔntinyu fɔ se, "A want mɔ, a angri." Dis it pasmak kin mek yu gɛt klas III fat, we kin mek yu gɛt ɔda prɔblɛm dɛn lɛk dayabitis ɛn at sik.

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

Prader-Willi syndrome kin kam bikɔs ɔf wan chenj na wi jin dɛm. spεshal wan, sכm jin dεm na kromozom 15 na wi bכdi nכ de wok fayn.

Wi ɔl kin gɛt wan kɔpi fɔ di kromozom 15 frɔm wi mama we wi gɛt bɛlɛ, ɛn wan kɔpi frɔm wi papa. nכmal wan, di jin dεm we de na di kכpi fכ di kromozom 15 frכm wi papa de aktibכt, dat na, "on." di jin dεm we de na di kכpi fכ di kromozom 15 frכm wi mama de "כf," dat na, dεn de silεnt. Wi kin kɔl dis `jɛnomik imprintin.' Bɔt wi nid ɔl tu di kɔpi dɛn fɔ mek di jin dɛn na wi bɔdi wok fayn fayn wan.

naw, di kכndishכn `PWS` kin kכz bay sεvεra chenj dεm na dis kromozom 15:

• di kromozom dεm : insay lεk 70% pan di PWS pasεnshכn dεm, pat pan di 15 kromozom dεm we dεn gεt frכm di papa de mis insay εvri sεl. So, di simptom dεm kin apin biכs di jin dεm frכm di papa nכ de wok fayn εn di jin dεm frכm di mama de silεnt.
• di maternal uniparental disomy: lεk 25% pan di tεm, pikin kin gεt tu kכpi fכ di kromozom 15 frכm in mama εn nכ wan frכm in papa. insay dis kes, di tu kכpi dεm fכ di kromozom 15 de silεnt, so di jin dεm nכ de wok fayn fayn wan.
• translokeshכn: insay less dan 1% pan di kes dεm, wan pat pan di kromozom 15 de brok εn atak כda kromozom. Dɔn, di jin dɛn nɔ de usay dɛn fɔ de, so dɛn nɔ de du di wok we dɛn fɔ du.

fכ sכmtεm, dis kromozom 15 na in de gi instrכkshכn fכ mek tin dεm we dεn kכl `sכm nyukliol RNA dεm (snoRNA)` we de εp wi sεl dεm fכ du difrεn tin dεm. dis `snoRNA` dεm de kכntro כda `RNA` mכlikul dεm. `RNA` mכlikul dεm de mek protin dεm, εn dεn protin dεm de du bכku wok na sεl dεm. so, we prכblεm de wit kromozom 15, dis כl prכsεs de go awry.

Aw dɔktɔ dɛn kin no bɔt dis? (Diagnosis) .

Dɔktɔ kin no se i gɛt Prader-Willi syndrome bay we i tek tɛm chɛk di pikin ɛn du tɛst fɔ no if i gɛt jɛnɛtiks. Di dɔktɔ go luk di pikin in bɔdi ɛn aks yu kwɛstyɔn bɔt di sik dɛn we yu pikin gɛt, aw i de it, ɛn aw i de biev.

If ɛni saspek de fɔ PWS, dɛn go ɔda fɔ mek dɛn du jenɛtik tɛst . Bɔku tɛm, dis na blɔd tɛst. dis kin kכrekt fכ no if eni abnכmal tin dεm de na di pikin in DNA, dat na, chenj dεm na di jin dεm.

Wetin na di tritmɛnt dɛm fɔ dis?

We dɛn de trit Prader-Willi syndrome, di men tin we dɛn kin pe atɛnshɔn pan na fɔ kɔntrol di sik dɛn ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn. Nɔr wan tritmɛnt nɔr de fɔ dis, bɔt dɛn kin yuse kɔmbayn tritmɛnt dɛm.

Di we aw dɛn kin trit am:

• Fɔ smɔl pikin dɛn, yu kin yuz spɛshal tin dɛn lɛk spɛshal bɔtul nipples fɔ ɛp dɛn fɔ drink milk . Bikɔs i nɔ kin izi fɔ dɛn fɔ sok, dɛn nid fɔ gɛt di it we dɛn nid.
• Di tin we impɔtant pas ɔl na fɔ ɛp yu pikin fɔ it fayn . Dis min se yu fɔ gi dɛn tin dɛn we nɔ gɛt bɔku kalori ɛn kɔntrol di we aw dɛn de it. Dis kin tranga smɔl, bikɔs bɔku tɛm yu pikin go fil angri.
• Dɛn kin gi mɛrɛsin fɔ mek sɔm ɔmon dɛn bɔku . Fɔ ɛgzampul, di ɔmon we de mek pɔsin gro. Fɔ bɔy pikin dɛn, dɛn kin gi dɛn tɛstostɛron ɔ human chorionic gonadotropin (HCG), ɛn fɔ gyal pikin dɛn, dɛn kin gi dɛn ɛstrojen.
• Sɔpɔt tritmɛnt dɛn rili impɔtant. Fyzikal tritmɛnt kin ɛp fɔ mek di mɔsul dɛn strɔng, di tritmɛnt we dɛn kin yuz fɔ tɔk ɛn tɔk kin ɛp fɔ mek i tɔk fayn, ɛn spɛshal ɛdyukeshɔn kin ɛp fɔ mek pikin ebul fɔ lan fayn fayn wan.

Wetin na di sayd ɛfɛkt dɛm wae de kam wit Prader-Willi Syndrome?

Bɔku tɛm, pikin dɛn we gɛt dis sik kin fat bikɔs dɛn de it pasmak. Dis fat kin mek yu gɛt ɔda prɔblɛm dɛn:

• Prɔblɛm dɛn we gɛt fɔ du wit at.
• Dayabitis (Tayp 2 Dayabitis).
• Ay blɔd prɛshɔn (Hypertension).
• Prɔblɛm dɛn we pɔsin kin gɛt we i de blo.
• Slip apnɛa fɔ slip.

Pan ɔl we fɔ fat na kɔmpleks sik, dɛn kin ebul fɔ kɔntrol am. Yu pikin in dɔktɔ go ebul fɔ gi yu gud advays bɔt dis.

Wi go ebul fɔ mek dis nɔ apin?

Bɔt i sɔri fɔ no se dɛn nɔ go ebul fɔ avɔyd di sik we dɛn kɔl Prader-Willi syndrome . Na tin we pɔsin kin gɛt frɔm in jɛnɛtiks. Bɔku tɛm, na bikɔs ɔf wan random jenɛtik mutation. I nɔ pɔsibul fɔ no wetin go apin. I nɔ kin kam bikɔs ɔf ɛnitin we di mama ɛn papa bin du bifo ɔ we dɛn bin gɛt bɛlɛ.

If yu de plan fɔ bɔn ɔda pikin, ɔ if yu want fɔ no mɔ bɔt dis, i go fayn fɔ mek yu gɛt kɔyl fɔ yu jɛnɛtiks. Dɔn, yu kin tɔk bɔt di risk fɔ bɔn pikin wit dis jenɛtik kɔndishɔn.

If mi pikin gɛt Prader-Willi Syndrome, wetin a fɔ ɛkspɛkt?

Dis kin mek yu fil bad bad wan ɛn shɔk. Dat na nɔmal tin. Bɔt if dɛn trit dɛn fayn frɔm di biginin ɛn kɔntinyu fɔ kia fɔ dɛn fayn fayn wan , bɔku pikin dɛn we gɛt Prader-Willi syndrome kin liv nɔmal layf.

Na nɔmal tin fɔ mek pɔsin nid ɛkstra ɛp fɔ du skul wok. Ɔl di pikin dɛn we gɛt PWS go nid sɔpɔt ɔlsay na dɛn layf fɔ liv fɔ dɛnsɛf as dɛn ebul. Yu dɔktɔ kin sɛn yu to pɔsin we sabi bɔt it. Dɛn kin ɛp yu fɔ kɔntrol yu pikin in it ɛn mek plan fɔ it. I kin fayn bak fɔ mek mama ɛn papa ɛn famili go to pɔsin we de gi advays bɔt mental wɛlbɔdi biznɛs ɔ jɔyn sɔpɔt grup fɔ famili dɛn we gɛt pikin dɛn we gɛt dis sik. Dis kin ɛp yu fɔ lan nyu we dɛn fɔ bia ɛn sɔpɔt yu pikin.

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Nɔ, naw, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Prader-Willi syndrome. Bɔt dɛn de du risach fɔ ɔndastand di sik mɔ.

Ustɛm a fɔ go to dɔktɔ?

If yu tink se yu pikin gɛt sayn dɛn fɔ Prader-Willi syndrome, go to yu pikin in dɔktɔ wantɛm wantɛm . nכ ignore eni divεlכpmεnt dεlay (mis divεlכpmεnt maylston dεm) we yu bεlε. If dɛn no di sik kwik, yu dɔktɔ kin ɛp fɔ kɔntrol yu pikin in sik, ɛp am fɔ rich di divɛlɔpmɛnt maylston dɛm, ɛn ridyus di prɔblɛm dɛm bay we i de kɔntrol di it we dɛn de it.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

We yu go si dɔktɔ, i go fayn fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Aw a go ɛp fɔ protɛkt mi pikin frɔm fat?
• Wetin go inklud di tritmɛnt fɔ mi pikin?
• Us prɔblɛm dɛn we mi pikin go gɛt pan aw i de biev?
• Sɔpɔt grup dɛn de we go ɛp wi fɔ lan bɔt ɛn bia wit PWS?
• I fayn fɔ mek dɛn du tɛst fɔ di ɔda pipul dɛn na mi famili?

Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm ɛn we nɔ kin mɛn. Bɔt di mɛdikal tim fɔ yu pikin go gi yu di sɔpɔt ɛn gayd we yu nid. Yu pikin kin tek lɔng tɛm fɔ rich di divɛlɔpmɛnt maylston dɛm pas ɔda pikin dɛm we dɛn ej. Dɛn go nid bak fɔ sɔpɔt dɛn fɔ dɛn layf ɔl fɔ mek dɛn nɔ gɛt prɔblɛm dɛn. If yu gɛt ɛni kwɛstyɔn bɔt aw yu pikin gɛt di sik ɔ aw fɔ kia fɔ yu pikin di bɛst we, nɔ shem fɔ tɔk to yu pikin in dɔktɔ.

Di impɔtant tin dɛn we wi nid fɔ mɛmba (Take-Home Message) .

Okay, so lɛ wi rikap sɔm pan di impɔtant tin dɛm we wi tɔk bɔt tide bɔt Prader-Willi Syndrome:

• Dis na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm, we min se nɔto bikɔs ɔf di mama ɛn papa fɔlt.
• Sɔm sayn dɛn kin si am ivin we i smɔl , lɛk we i kin taya ɛn i nɔ kin izi fɔ gi pikin in bɛlɛ.
• Angri ɔltɛm ɛn it pasmak na di men sayn dɛm fɔ dis sik, we kin mek pɔsin fat.
• Dis kin afɛkt di pikin in divɛlɔpmɛnt, di we aw i de biev, ɛn aw i de lan.
• Pan ɔl we no mɛrɛsin nɔ de, tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik dɛn ɛn liv bɛtɛ layf. I rili impɔtant fɔ no di sik kwik ɛn bigin fɔ trit am.
• Sɔpɔt fɔ mama ɛn papa ɛn famili rili impɔtant. Yu kin gɛt ɛp frɔm dɔktɔ, pipul dɛn we sabi bɔt it, pipul dɛn we de mɛn pipul dɛn, ɛn sɔpɔt grup dɛn.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛnitin we de mɔna yu bɔt yu pikin, nɔ shem fɔ go to dɔktɔ.

` Prader-Willi syndrome, PWS, jεnεtik sik dεm, pikin dεm hεlth, ova wet, it, divεlכpmεnt dεlay