Sɔntɛnde, mama ɛn papa dɛn kin rili fred we dɛn si sɔm sayn dɛn pan pikin we dɛn jɔs bɔn. Di pikin nɔ de it fayn, i nɔ de gɛt mɔ wet, ɔ i de biev wantɛm wantɛm di we we nɔ kɔmɔn. Di tin we kin mek dɛn kayn tin ya kin bi ‘Inherited Metabolic Disorders’, we nɔbɔdi pan wi nɔ yɛri bɔt. Nɔ fred we yu yɛri dis nem. Pan ɔl we dis na tɔpik we kɔmplikt smɔl, lɛ wi tɔk bɔt am simpul wan.
Fɔ tɔk am simpul wan, wetin na dis mɛtabolism?
Tink bɔt wi bɔdi lɛk big faktri. Di tin dɛn we wi de it ɛn drink ( kabɔhaydrɛt , prɔtin , fat ) na di raw matirial fɔ dis faktri. Di kɔmpleks kemikal we de yuz dɛn raw matirial ya fɔ mek di ɛnaji we di bɔdi nid, pul tin dɛn we nɔ nid as west, ɛn mek nyu tin dɛn na in wi kɔl mɛtabolism .
‘Wokman’ de fo dis faktri fo kip tins de ron smol smol. Wi kin kɔl dɛn wokman dɛn ya ɛnzaym . Ɛni ɛnzaym gɛt wan patikyula wok nɔmɔ. Wan de brok di shuga , wan ɔda wan de brok di prɔtin, ɛn wan ɔda wan de pul di pɔyzin dɛn .
‘inborn error of metabolism’ min se wan pan di ‘wokman’ (enzymes) na dis faktri nɔ de wok fayn, ɔ di wokman nɔ bɔn wit am. dis na bikoz fכ wan difεkt na di jεnεtik ‘blכprεnt’ we nid fכ mek da εnzym de.
Dis tan lɛk we yu lɔs wan wokman na wan asɛmbli layn. If sɔntin we impɔtant nɔ de prodyuz, ɔ we nɔ nid, pɔyzin matirial dɛn kin gɛda ɛn prɔblɛm dɛn kin kam.
Wetin kin mek wi gɛt dɛn sik ya?
Bɔku pan dɛn sik ya kin kɔmɔt frɔm di tin dɛn we dɛn kin gɛt frɔm dɛn jɛnɛtiks . Fɔ tɔk am simpul wan, fɔ mek pikin gɛt dis kayn sik, dɛn fɔ gɛt tu kɔpi fɔ di jin we nɔ fayn - wan frɔm dɛn mama ɛn wan frɔm dɛn papa.
bכku tεm, dεn tu mama εn papa dεm na ‘kכriכg' f כ dis jin we nכ de wok fayn. Dis min se dɛn gɛt di jin we nɔ fayn ɛn di jin we gɛt wɛlbɔdi na dɛn bɔdi. Bikɔs ɔf di wɛlbɔdi jin, dɛn nɔ kin gɛt ɛni sayn.
Bɔt if di pikin gɛt di sem jin we nɔ fayn frɔm di mama ɛn papa, di pikin in bɔdi nɔ go mek di ɛnzaym we gɛt fɔ du wit am. Na da tɛm de di sik kin apin. Dis nɔto ɛnibɔdi in fɔlt, na sɔntin we dɛn kin gɛt frɔm dɛn mama ɛn papa.
Us kayn sik dɛn de?
Bɔku bɔku dis kayn sik dɛn de. Ɛni wan pan dɛn gɛt in yon spɛshal sayn dɛn. Lɛ wi luk sɔm pan di kayn dɛn we dɛn kin tɔk bɔt.
| Di sik kategori ɛn ɛgzampul dɛn | Fɔ tɔk am simpul wan, wetin kin apin? |
|---|---|
| Laysosomal Stɔrej Disɔda dɛn Eg: Hurler syndrome, Tay-Sachs sik, Gaucher sik | biכs fכ di dכn we di εnzym dεm na di ‘laysosom dεm' we de brok dכn west prodakt dεm insay sεl dεm, tכxin dεm de kכmכt. Dis kin mek tin dεm lεk di nεv dεm we de pwεl εn di bon dεm we de fכm. |
| Galaktɔsemia we de na di bɔdi | di pikin nכ kin ebul fכ daygεst di shuga 'galaktoz' we de insay milk. Afta yu dɔn drink mama in milk ɔ fɔmula, sɔm sayn dɛm lɛk fɔ vɔmit ɛn janda kin apin. |
| Maple Syrup Urine Disease we pɔsin kin gɛt | di akyumuleshכn fכ sכm amino asid dεm na di bכdi de pwεl di nεv sεstem. Di pikin in urine de smɛl swit, lɛk maple sirop. |
| Fɛnilkɛtonuria (PKU) . | wan amino asid we dεn kכl ‘phenylalanine’ de kכmכt na di bכdi. If dɛn nɔ no ɛn trit am kwik, i kin afɛkt di divɛlɔpmɛnt pan intɛlektual. |
| Mɛtal Mɛtabolism Disɔda Eks: Wilson in sik, Ɛmokromatosis | difεkt dεm na di protin dεm we de kכntro mεtal dεm lεk kכpa εn ayכn we di bכdi nid kin mek di bכdi tכxik lεvεl dεm. |
Wetin na di sayn dɛm fɔ dis sik?
Di sayn dɛm kin difrɛn bad bad wan. i dipכnt pan us εnzym we nכ de εn us mεtabolik prכsεs de disrupt. Sɔm sik kin sho di sayn dɛm insay sɔm wiks afta dɛn bɔn am. Ɔda wan dɛn kin tek sɔm ia fɔ mek dɛn divɛlɔp.
Na sɔm kɔmɔn sayn dɛn ya:
- I kin taya ɛn i kin slip: Di pikin kin taya ɔltɛm ɛn i nɔ kin gɛt layf.
- Anorexia: Nɔ intres fɔ it ɔ drink milk.
- Bɛlɛ we de at ɛn vɔmit: Yu kin vɔmit bɔku tɛm.
- We yu de lɔs yu wet ɔ yu nɔ de gɛt bɔku bɔku wet: We yu gɛt wet nɔ fayn fɔ di ej we yu dɔn ol.
- Jandis: Di yay ɛn di skin kin tɔn yɔlɔ.
- Divεlכpmεnt delay: Tin dεm lεk fכ smayl, ol dεn ed כp, εn waka kin apin leta pas כda pikin dεm.
- Seizure: Kɔndishɔn dɛn we tan lɛk seizure kin apin.
- Nɔmal smel we de kɔmɔt frɔm yu urine, swet, ɔ briz.
De tin wae impɔtant pas ɔl na fɔ nɔr frayd if yu gɛt wan ɔr tu pan dɛn sik ya. Bɔt if pas wan pan dɛn tin ya nɔ de apin, go to yu dɔktɔ we yu nɔ go te.
Aw dɛn kin no di sik ɛn trit am?
Diagnosis fɔ di sik
Insay sɔm divɛlɔp kɔntri dɛn, dɛn kin chɛk ɛni pikin we dɛn jɔs bɔn fɔ si if dɛn gɛt bɔku sik dɛn ya (Newborn Screening). Sɔm ɔspitul dɛn na Sri Lanka kin du bak fɔ chɛk fɔ si if dɛn gɛt bɔku sik dɛn lɛk dis.
If dɔktɔ saspek dis afta di sayn dɛn dɔn sho, dɛn go rifer di pɔsin fɔ mek dɛn du spɛshal blɔd tɛst ɛn DNA tɛst. Dis na di wangren we fɔ kɔnfirm di sik kɔrɛkt wan.
Di we aw dɛn kin trit am
Teknɔlɔji nɔ dɔn de yet fɔ mɛn di jenɛtik dɛfɛkt we de kɔz dɛn sik ya kpatakpata. Bɔt bɔku tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik ɛn ɛp di pikin fɔ liv nɔmal layf.
Tri men gol dɛn de fɔ tritmɛnt:
- Fɔ stɔp di it dɛn we di bɔdi nɔ ebul fɔ dayjɛst: Fɔ ɛgzampul, dɛn kin gi pikin we gɛt PKU spɛshal it we de stɔp di it dɛn we gɛt bɔku prɔtin.
- Enzyme Replacement Therapy: Fɔ sɔm sik dɛm, dɛn kin gi di enzyme as vaysin fɔ tray fɔ mek di bɔdi in prɔses bak.
- Fɔ pul di pɔyzin dɛn na di bɔdi:We dɛn yuz spɛshal mɛrɛsin ɔ we dɛn de du tin, dɛn kin pul di bad bad kemikal dɛn we dɔn gɛda na di bɔdi.
I bɛtɛ fɔ mek pikin ɔ big pɔsin we gɛt dis sik go to tritmɛnt na ɔspitul we spɛshal pan dis eria. I rili impɔtant fɔ fala di dɔktɔ in instrɔkshɔn dɛn di rayt we.
Mɛsej we dɛn kin kɛr go na os
- ‘Congenital mεtabolik sik dεm’ na kכndyushכn dεm we de kכz fכ jεnεtik fכs. Dɛn nɔto di mama ɛn papa dɛn fɔlt atɔl.
- Pan ɔl we dɛn sik ya nɔ kin bɔku fɔ wan wan, dɛn nɔ kin bɔku so we dɛn tek dɛn ɔl togɛda.
- If yu pikin kɔntinyu fɔ gɛt prɔblɛm wit in divɛlɔpmɛnt, prɔblɛm wit it, ɔ ɔda tin dɛn we nɔ kɔmɔn, nɔ ignore dɛn. Go to dɔktɔ wantɛm wantɛm.
- Bɔrku pan dɛn sik ya kin bi fayn if dɛn no bɔt dɛn kwik kwik wan, trit dɛn fayn, ɛn kɔntrol aw dɛn de it.
- We dɛn dɔn go bifo pan mɛrɛsin sayɛns, i go mɔs bi se nyu tritmɛnt dɛn we go wok fɔ dɛn sik ya (lɛk jin tɛrapi) go de tumara bambay.
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