As mama ɔ papa, yu go mɔs de wɔri bɔt yu smɔl pikin in wɛlbɔdi. Sɔmtɛm na nɔrmal tin fɔ fil smɔl frayd wae yu lan bɔt sɔm kayn tin wae nɔr kin apin so ɔltɛm wae wi nɔr ivin yɛri bɔt. Wɛl, tide wi de tɔk bɔt wan sik we nɔ kin apin so ɔltɛm we bɔku pipul dɛn nɔ yɛri bɔt, bɔt i impɔtant fɔ no bɔt. I nem na Homocystinuria.
Fɔ tɔk am simpul wan, wetin na Homocystinuria (HCY)?
Tink bɔt am, wi no se di it dɛn we wi de it, mɔ mit, fish, milk, ɛn eg, gɛt prɔtin . dis big protin na sכm sכm pat dεm we dεn kכl amino asid . Lɛk bildin blɔk dɛn. Insay pɔsin we gɛt wɛlbɔdi in bɔdi, dɛn amino asid ya kin brok ɛn digest, ɛn bi di ɛnaji we wi bɔdi nid.
Bɔt pan pɔsin we gɛt Homocystinuria (HCY), di bɔdi nɔ kin ebul fɔ brok ɛn dayjɛst wan amino asid we dɛn kɔl methionine . Dɛn kɔl dis mɛtabolik disɔda. we dis apin, dis mεtiכnin εn כda kεmikכl we dεn kכl homocysteine, we dεn fכm frכm am, kin bigin fכ kכlכm na di bכdi, spεshal wan na di bכdi. Dis akumulashɔn denja. If dɛn nɔ trit dis, dis kin mek wi gɛt siriɔs wɛlbɔdi prɔblɛm.
Wetin mek dis de apin? Wetin na di rizin fɔ dis?
wan spεshal εnzym na wi bכdi de εp fכ brok dis amino asid we dεn kכl mεtiכnin. Tink bɔt dis ɛnzaym lɛk siza. Dɛn siza dɛn ya kin kɔt di big tin we dɛn kɔl mɛtiɔnin to smɔl smɔl.
pan pɔsin we gɛt homocystinuria, dis ɛnzaym (siza) nɔ de kɔmɔt na di bɔdi, ɔ if i kɔmɔt, i nɔ de wok fayn.
Di impɔtant tin na dat dis na sik we pɔsin kin gɛt frɔm in mama ɛn papa . Dat min se dɛn kin pas am frɔm jɛnɛreshɔn dɛn. Tu jin dεm de we de sho yu fכ mek dis εnzym. Wan fɔ gɛt frɔm yu mama ɛn di ɔda wan fɔ gɛt frɔm yu papa. fכ mek homocystinuria divεlכp, i fכ gεt difεkt na di tu jin dεm we yu mama εn papa gεt.
Us sayn dɛn wi kin si?
I sɔprayz fɔ no se we yu luk pikin we dɛn bɔn wit Homocystinuria, no difrɛns nɔ de. Dɛn na kɔmplit nɔmal bebi dɛn. Di sayn dɛm kin bigin fɔ sho insay di fɔs sɔm ia dɛm we pɔsin de liv. Nɔto ɔl pikin dɛn kin gɛt dɛn sik ya di sem we. Sɔm pikin dɛn kin gɛt sɔm pan dɛn sik ya, ɛn ɔda wan dɛn nɔ kin sho ɛni wan.
Pe atɛnshɔn to di kwaliti dɛn we de na di tebul we de dɔŋ ya.
| Karakteristik kategori | Di sayn dɛm we dɛn kin si bɔku tɛm |
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| Di we aw bɔdi de luk | I gɛt rili pale skin ɛn ia, i gɛt chɛst shep we nɔ kɔmɔn, i gɛt bɔdi we lɔng ɛn tan lɛk ɔda pikin dɛn, ɛn i gɛt lɔng, tin finga dɛn. |
| Gro | Slow weit gein ɛn grow. |
| Ays we yu de si | I nɔ kin si bad bad wan (we i kin si nia), di lens kin kɔmɔt na di bɔdi, ɛn ivin blaynd. |
| Ɔda siriɔs sayn dɛn | Bɔn dɛn kin wik (we kin brok), blɔd kin klɔt (we kin mek pɔsin gɛt strok ɛn at sik), ɛn we kin mek pɔsin sik. |
| Divεlכpmεnt εn bihayvya | Dilɛys fɔ kray, waka, ɛn tɔk. Disabiliti fɔ lan ɛn prɔblɛm wit in maynd. Prɔblɛm fɔ kɔntrol di we aw pɔsin de biev ɛn di we aw i de fil. |
Aw dɔktɔ dɛn kin fɛn dis?
na bכku kכntri dεm, dεn kin yus nyu bכbi skrin fכ no di kכndyushכn dεm lεk Homocystinuria kwik kwik wan. Dis blɔd tɛst de sho if di pikin de pan denja fɔ gɛt di sik.
If di rizɔlt nɔr nɔrmal, di dɔktɔ go tɛl yu fɔ du ɔda spɛshal blɔd ɛn urine tɛst fɔ no if yu gɛt di sik. Insay Sri Lanka, dɛn kin ɔda dɛn fɔ du dɛn tɛst ya afta di sik dɔn sho ɛn na afta dɛn dɔn sɔprayz.
Aw dɛn kin trit am? Na sɔntin we wi fɔ fred?
Nɔ, nɔ wɔri. Di tin we impɔtant pas ɔl na fɔ bigin tritmɛnt jɔs lɛk aw dɛn dɔn no se yu gɛt di sik.Wan dɔktɔ we de ɛp yu fɔ du dis. Di tritmɛnt plan kin difrɛn frɔm wan pikin to ɔda pikin.
Tu men we dɛn de fɔ trit pɔsin:
1. Vitamin B6 tritmɛnt
Wan kayn homocystinuria de we nɔ kin rili bad. Yu kin kɔntrol am bay we yu gi bɔku bɔku vaytamɛn B6 sɔpɔtmɛnt. Yu dɔktɔ go tɛst yu pikin fɔ no if dis tritmɛnt fayn fɔ dɛn. Dis vaytamɛn kin ɛp fɔ mek sɔm pikin dɛn nɔ gɛt prɔblɛm wit dɛn bihayvya ɛn maynd, ɛn i kin ɛp bak fɔ mek dɛn nɔ gɛt prɔblɛm wit dɛn yay, bon, ɛn blɔd klɔt.
2. Spɛshal it (Low-Methionine Diet) .
If di pikin nɔ gri wit vaytamɛn B6 tritmɛnt, di nɛks tin we i fɔ du na fɔ bigin it tin dɛn we nɔ gɛt bɔku mɛtiɔnin . Bɔku tɛm, dis it kin de fɔ ɔl in layf. I impɔtant fɔ aks fɔ ɛp frɔm pɔsin we sabi bɔt it ɛn we spɛshal pan amino asid dizayd.
| Tin dɛn we yu fɔ tink bɔt we yu de fala di it we nɔ gɛt bɔku mɛtiɔnin | |
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| Fɔ it dɛn we gɛt bɔku prɔtin we dɛn fɔ avɔyd ɔltogɛda |
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| Ɔda it dɛn fɔ limit ɔ stɔp |
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| Tin dɛn we yu kin it wit tek tɛm | Frut ɛn vɛjitebul dɛn nɔ gɛt bɛtɛ mɛtiɔnin, so yu kin it dɛn we yu kɔntrol am , lɛk aw yu dɔktɔ ɛn pɔsin we sabi bɔt it dɔn advays. |
Apat frɔm dat, di dɔktɔ se dɛn fɔ gi di pikin wan spɛshal fɔmula instead fɔ gi am milk. dis fכmula gεt כl di כda nyutriεnt dεm we di pikin nid fכ gro, wit di mεtiכnin we dεn pul.
Dɔn bak, di dɔktɔ kin gi yu sɔm ɔda tin dɛn fɔ it.
- Betaine ɛn folic acid: Dɛn tin ya de ridyus di lɛvɛl dɛn fɔ di bad bad homocysteine we kin gɛda na di blɔd.
- Vitamin B12 ɛn L-cysteine: Dɛn tin ya kin de bikɔs ɔf di sik. B12 dεn gi am as shot εn L-cysteine as supliment.
Fɔ mek shɔ se di tritmɛnt de wok, yu go nid fɔ tɛst yu pikin in blɔd ɛn urine ɔltɛm. As yu pikin de ol, yu kin nid fɔ mek smɔl chenj dɛn to di tritmɛnt plan.
So, wetin wi fɔ tink bɔt tumara bambay?
Di gud nyus na dat if dɛn bigin fɔ trit am kwik ɛn kɔntinyu fɔ du am fayn fayn wan, di pikin kin gro ɛn divɛlɔp nɔmal wan . If yu trit yu fayn, dat kin mek bak yu nɔ gɛt strok, at sik, ɛn blɔd we de rɔtin bad bad wan.
Sɔntɛnde, prɔblɛm kin apin pan pɔsin in yay pan ɔl we dɛn dɔn trit am. Bɔt dɛn kin ebul fɔ kɔntrol dɛn wit ɔpreshɔn ɔ ɔda we dɛn. Di tin we impɔtant pas ɔl na fɔ kɔntinyu fɔ tɔk to yu dɔktɔ ɔltɛm ɛn fala wetin i tɛl yu fɔ du.
Mɛsej we dɛn kin kɛr go na os
- Homocystinuria na wan sik we nɔ kin apin so ɔltɛm we di bɔdi nɔ kin ebul fɔ dayjɛst mɛtiɔnin, we na wan amino asid we de insay di it dɛn we wi de it.
- Dis na kכndyushכn we de kכz fכ difεktiv jin dεm we dεn gεt frכm di mama εn papa.
- di simptom dεm (sכt ayt, yu de si fayn, i de delay fכ gro) de sho sכm tεm afta dεn bכn di pikin.
- dis kכndyushכn kin kכmכt fayn fayn wan wit spεshal it we nכ gεt vaytam in B6 כ mεtiכnin.
- If yu no di sik kwik kwik wan ɛn trit yu pikin fɔ ɔl in layf, dat kin ɛp fɔ liv wɛl, nɔmal layf. If yu gɛt ɛnitin fɔ wɔri bɔt dis, tɔk to yu dɔktɔ opin wan.
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