Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt di sik we dɛn kɔl Zellweger Syndrome

We wi luk pikin we dɛn jɔs bɔn, wi at kin gladi, nɔto so? Bɔt sɔntɛnde, pan ɔl we i nɔ kin apin so ɔltɛm, sɔm pikin dɛn kin kam na dis wɔl wit sɔm wɛlbɔdi prɔblɛm dɛn we dɛn bɔn dɛn. Zellweger Syndrome na wan sik we nɔ kin apin so ɔltɛm, we kin ambɔg di pikin dɛn we dɛn jɔs bɔn. Yu kin wɔri we yu yɛri dis nem, bɔt lɛ wi tɔk bɔt am simpul wan ɛn ɔndastand am.

Wetin na di sik we dɛn kɔl Zellweger Syndrome?

Fɔ tɔk am simpul wan, Zellweger Syndrome na wan sik we de apin to pikin dɛn we dɛn jɔs bɔn. Dɔktɔ dɛn kɔl am di wan we rili bad pan di 4 sik dɛn we de pan di Zellweger spɛktrum. i de afekt di nεv sεstem εn mεtabolism (di prכsεs fכ kכnvכlt it to εnεji) rayt afta dεn bכn am. I kin pwɛl di bren, di liva, ɛn di kidni mɔ. I kin afɛkt bak bɔku impɔtant wok dɛn na di bɔdi. Wan ɔda nem fɔ dis na di sɛribrohɛpatorenal sindrom. Infakt, bɔrku tɛm dis sik kin siriɔs, dat min se e kin mek pɔrsin in layf de pan denja.

Wetin na Zellweger Spectrum Disorders (ZSD)?

dεn kכl dεn tin ya bak `pεroksisomal bayכjεnεsis dizכrd`. dis sik dεm de afekt di pat dεm na wi sεl dεm we dεn kכl `peroxisomes`. dis `peroxisomes` dεm implεnt fכ plεnti wok dεm na wi bכdi.

Ɔda sik dɛm we de insay di Zellweger spɛktrum na:

• Heimler syndrome: Dis kin mek pikin dɛn we dɔn ol fɔ sɔm mɔnt ɔ we rili yɔŋ, nɔ kin yɛri fayn ɛn gɛt prɔblɛm wit dɛn tit.
• Infantile Refsum disease: Dis kin mek di pikin in mכsul dεm nכ de wok fayn εn i de delay divεlכpmεnt, lεk fכ stat fכ waka.
• Neonatal adrenoleukodystrophy: Dis kin mek yu nɔ de yɛri ɛn si fayn fayn wan. I kin mek prɔblɛm bak wit di pikin in bren, in spaynal kɔd, ɛn in mɔsul dɛn.

Udat kin gɛt di sik we dɛn kɔl Zellweger syndrome?

dis kin bi fכ sכm chenj dεm (mכtεshכn) dεm na di jin dεm. Fכ bi prεsis, dis na כtosom rεsεsiv dizכrd. Dis min se di pikin go jɔs gɛt dis sik if i gɛt di jin we nɔ fayn frɔm di mama ɛn papa .

Tink bɔt am dis we, if di mama ɛn papa ɔl tu na ``kɛriɔ'' fɔ dis jin we nɔ fayn (we min se dɛn nɔ gɛt di sik, bɔt dɛn gɛt di jin), dɛn pikin dɛn go:

• 50% chans de fɔ mek dɛn bi kyaria.
• Na 25% chans de fɔ bɔn wit dis sik.
• 25% chans de fכ bכn yu hεlty εn we nכ gεt di jin.

Aw kɔmɔn tin na di sik we dɛn kɔl Zellweger syndrome?

Dis nɔ kin apin so ɔltɛm.Wan sik we dɛn kɔl sik. we dεn kam togεda wit כda Zellweger spεktrum dizכrd dεm, dεn kכndyushכn ya kin apin pan lεk wan pan 50,000 to wan pan 75,000 nyu bכbi dεm. So yu nɔ kin yɛri bɔt am bɔku tɛm.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Zellweger syndrome?

dis de kכz fכ wan mכtεshכn insay wan pan 12 jin dεm we dεn kכl `PEX` jin. di mכst kכmכn kכz fכ dis kכndyushכn na di mכtεshכn na di `PEX1` jin. dis jin dεm de kכntro `Peroxisomes`, we implεnt fכ di nכmal fכnshכn fכ wi sεl dεm.

Pεroksisom dεm lεk sכm sכm fכktri dεm insay sεl dεm. Dɛn kin brok di bad bad pɔyzin ɛn fat dɛn we de na di bɔdi. Dɛn kin ɛp bak fɔ mek dɛn pat dɛn ya na wi bɔdi go bifo:

* Bɔn dɛn

* Bren

* Yay

* At

* Kidni dɛn

* Liva

* Nɛv dɛn

so imajin, if dεn ‘pεroksisom dεm’ nכ de wok fayn, i de afekt εvri כgan εn εvri sistεm.

Wetin na di sayn dɛm wae de sho se yu gɛt Zellweger syndrome?

Dɛn kin si dɛn sayn ya klos to jɔs afta dɛn bɔn di pikin. Mɔ di dɔktɔ dɛn kin notis sɔm patikyula tin dɛn na di pikin in fes . Dɛn tin ya na:

• Di brij na di nos big.
• di say we di skin fold dεm de (Epicanthal folds) na di insay kכna dεm na di yay.
• Fɔ mek di fes flat.
• Ay fɔrɛst pozishɔn.
• Aylash nɔ de gro fayn.
• distans bitwin di yay dεm we de go כp (i tan lεk se di yay dεm de fa frɔm dɛnsɛf).

Apat frɔm dɛn fes ya, ɔda sayn dɛn kin bi:

• I nɔ kin izi fɔ gi pikin in bɛlɛ: Di pikin nɔ kin ebul fɔ gi pikin in bɛlɛ fayn fayn wan.
• Liva ɛn/ɔ splin we big: Dɛn kin notis dis we dɔktɔ de chɛk di bɛlɛ.
• Blɔd we de kɔmɔt na di bɛlɛ: Blɔd kin de wit vɔmit ɔ stɔl.
• I nɔ de yɛri ɛn si fayn: Di pikin nɔ kin ansa fayn we i de yɛri sawnd ɔ we i de na do.
• Janda: Di yay ɛn di skin kin yɔlɔ bikɔs di liva nɔ de wok fayn.
• Seizure: Kɔndishɔn dɛn we tan lɛk seizure kin apin.
• di mכsul dεm dεn dכn dכn εn i at fכ muv: i kin lεk se di pikin in an dεm nכ de divεlכp εn dεn nכ de muv fayn.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Zellweger syndrome?

Bɔku tɛm, jɔs afta dɛn bɔn di pikin, dɔktɔ ɔ nɔs kin sɔprayz dis we dɛn si di patikyula tin dɛn we de na di pikin in fes. Dɔn dɛn kin du dɛn tɛst ya fɔ no if dɛn dɔn no di sik:

• Blɔd ɛn urine tɛst:If bɔku tin dɛn de na di blɔd ɔ urine, mɔ di fat mɔlyul dɛn, dat kin bi sayn fɔ Zɛlwega sindrom. biכs di pεrכksisom dεm nכ de wok fayn, dεn tin ya nכ de brok dכn fayn fayn wan bay di bכdi.
• skan: dεn de du wan `Ultrasound` tεst fכ chεk di sayz fכ di insay כgan dεm lεk di liva εn kidni dεm εn aw dεn de wok. wan `MRI` (Magnetic Resonance Imaging) skan fכ di bren imכtant bak insay di diagnostik prכsεs.
• Jɛnɛtik tɛst: Dɛn kin tek blɔd sɛmpul fɔ no if muteshon de na di PEX jin. Dis na wetin go kɔnfirm di diagnosis .

Yu tink se dɛn kin no di sik we dɛn kɔl Zellweger syndrome bifo dɛn bɔn di pikin?

Yɛs, insay sɔm kes dɛn, i pɔsibul. if dεn no se dεn tu mama εn papa gεt di dεfekt `PEX` jin, di pikin de pan risk fכ divεlכp di kכndyushכn. If na so i bi, dɔktɔ dɛn kin chɛk fɔ si if i sik bay we dɛn de du blɔd tɛst ɔ skan we di pikin de gro na di bɛlɛ.

Wetin na di prɔblɛm dɛn we kin kam wit di sik we dɛn kɔl Zellweger syndrome?

Bebi dεm we gεt dis kכndyushכn nכ kin ebul fכ yεri, si, כ it. If dɛn mɔsul dɛn nɔ de divɛlɔp fayn, dɛn nɔ kin ivin ebul fɔ muv. Bɔku tɛm, dɛn pikin ya kin gɛt siriɔs prɔblɛm dɛn lɛk we i nɔ kin izi fɔ blo, we dɛn liva nɔ kin wok fayn, ɔ we blɔd kin kɔmɔt na di say we dɛn de it .

Aw dɛn kin trit di sik we dɛn kɔl Zellweger syndrome?

Bɔt i sɔri fɔ no se, no mɛrɛsin ɔ tritmɛnt nɔ de fɔ di sik we dɛn kɔl Zellweger syndrome . Sɔm tritmɛnt dɛn kin ɛp fɔ mek di pikin nɔ gɛt di sik ɛn mek di pikin fil fayn smɔl. Bɔt no we nɔ de fɔ trit di men tin we mek i gɛt dis sik.

Fɔ ɛgzampul, if i nɔ izi fɔ mek pikin it, dɛn kin yuz tyub fɔ gi pikin tin fɔ it. Bɔt dis nɔ go ɛva alaw di pikin fɔ it nɔmal wan fɔ insɛf. Di men gol fɔ tritmɛnt na fɔ mek di pikin nɔ fil pen ɛn nɔ fil fayn as i pɔsibul.

Wetin na di fiuja fɔ bebi dɛn we gɛt Zellweger syndrome?

I sɔri fɔ yɛri, bɔt pikin dɛn we gɛt Zɛlwega sindrom kin liv lɛs 12 mɔnt . Dat min se dɛn nɔ kin liv lɔng te dɛn ol wan ia. Bɔt pikin dɛn we gɛt ɔda sik dɛn we de na di Zellweger spɛktrum, lɛk Refsum sik ɔ Heimler syndrome, kin liv bɛtɛ layf. Dɛn kin ivin liv te dɛn big.

Yu tink se dɛn go ebul fɔ protɛkt di sik we dɛn kɔl Zellweger syndrome?

Bɔt i sɔri fɔ no se, no we nɔ de fɔ mek dis nɔ apin bikɔs na tin we pɔsin kin gɛt we i kam pan jɛnɛtiks. Bɔt if sɔmbɔdi na yu famili dɔn gɛt Zellweger syndrome ɔ ɔda sik dɛn we de na di spɛktrum, yu go ɛp yu fɔ advays yu bɔt yu jɛnɛtiks.Yu kin tink bɔt fɔ gɛt am. Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin no aw yu go gɛt di sik to yu pikin dɛn ɔ granpikin dɛn.

Wetin a go du if a gɛt wan chenj na mi jin dɛn we gɛt fɔ du wit Zɛlwega sindrom?

If yu kam fɔ no se na yu gɛt di jin dɛm we gɛt fɔ du wit dis sik, fɔ advays yu jɛnɛtiks rili impɔtant. Tru dis, yu kin asɛs di risk dɛm we yu kin gɛt we yu bɔn pikin.

Dɔn bak, if yu gɛt pikin we gɛt Zellweger syndrome, wan tim we de mɛn pikin dɛn we dɛn jɔs bɔn ( dɔktɔ dɛn we spɛshal pan pikin dɛn we dɛn jɔs bɔn) go ɛp yu fɔ pik di bɛst we fɔ kia fɔ yu pikin. Nɔr de yu wan dis tɛm, gɛt sɔpɔt frɔm yu dɔktɔ ɛn fambul.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Zellweger Syndrome (ZS) na wan sik we nɔ kin apin so ɔltɛm ɛn we kin rili bad we kin afɛkt pikin dɛn we dɛn jɔs bɔn. I kin pwɛl di impɔtant pat dɛn lɛk di liva, di kidni, ɛn di bren. Bebi dεm we gεt dis kכndyushכn nכ kin liv pas wan ia.

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Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis, tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn mek di pikin fil fayn as i pɔsibul. If ɛnibɔdi na yu famili gɛt dis sik, go to di kɔyl fɔ yu jɛnɛtiks. Dɔn bak, mama ɛn papa dɛn we de gɛt dis sik nid di bɛst sɔpɔt frɔm dɔktɔ ɛn famili.

A op se dis infɔmeshɔn go yusful to yu. I rili impɔtant fɔ mek ɔlman no bɔt dɛn kayn tin ya.

` Zellweger Syndrome, jεnεtik dizכrd, nyu bכn, pεrכksisom, PEX jin dεm, rεr sik, pikin hεlth, jεnεtik sik dεm