Yu pikin gɛt prɔblɛm fɔ digest milk shuga? Lɛ wi tɔk bɔt Galactosemia!

We dɛn de gi pikin we dɛn jɔs bɔn, ilɛksɛf na mama in milk ɔ fɔmula, sɔntɛnde smɔl prɔblɛm dɛn kin apin, nɔto so? Imajin, wetin yu go du if yu pikin nɔ ebul fɔ dayjɛst wan kayn shuga we de insay milk? Yɛs, i kin apin. Galactosemia na di inability fכ digεst di kayn shuga we de insay milk we dεn kכl ‘galactose’. Dis kin bi siriɔs sik, bɔt if dɛn no am kwik, wi kin ridyus bɔku pan di big prɔblɛm dɛn we di pikin kin gɛt.

Aw dis sik kin afɛkt di pikin in bɔdi?

Fɔ tɔk am simpul wan, we yu pikin in bɔdi nɔ ebul fɔ brok di shuga galaktɔs we de insay it, mɔ di milk, ɛn tɔn am to ɛnaji, i kin bigin fɔ bɔku na di blɔd. infakt, di wכd 'galactosemia' rili min "di prεsεns fכ galaktos insay di bכdi." So we galaktɔs gɛda na di blɔd, i kin skata ɔlsay na di bɔdi. afta dat, wan εnzym we nכ de wok wit galaktכz de kכnvכlt dis galaktכz to wan alkol we dεn kכl ‘galaktitol.’ Dis galaktitɔl na pɔyzin to di bɔdi.

We dis pɔyzin galaktitɔl gɛda na di pikin in ɔgan ɛn tisu dɛn, i kin bigin fɔ pwɛl dɛn. If dɛn nɔ trit am, galactosemia kin mek i gɛt siriɔs sayd ɛfɛkt lɛk:

• Katarakt we pɔsin kin gɛt .
• Divɛlɔpmɛnt dilɛys dɛn .
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual .
• I nɔ izi fɔ tɔk .
• Fayn ɛn gros motoka prɔblɛm, we min se i nɔ izi fɔ gɛt fayn fayn motoka skil dɛm, lɛk fɔ waka ɛn rɔn.
• Nyurolɔjik prɔblɛm dɛn .
• Kidni sik .
• di ovarian insufisεns bifo tεm na uman pikin dεm.
• Liva we nɔ de wok fayn .
• Sepsis na wan bad bad infekshɔn.

Imajin aw i impɔtant fɔ no dis sik kwik kwik wan! If yu no am kwik, pul galaktose na yu pikin in it, ɛn trit am fayn, yu kin avɔyd bɔku pan dɛn prɔblɛm ya.

Bɔt ivin if dɛn no am kwik kwik wan ɛn trit sɔm pikin dɛn, dɛn kin kɔntinyu fɔ gɛt smɔl prɔblɛm dɛn. Dis na bikɔs ivin if wi pul galaktɔs kɔmɔt na wi it kpatakpata, wi bɔdi stil de mek smɔl galaktɔs na wi yon we. Dɛn kɔl dis ɛndojɛnik galaktɔs . So, sɔmtɛm pikin dɛn we dɛn kin trit kin gɛt dɛn tin ya:

• Di delay fɔ tɔk.
• Disabiliti fɔ lan.
• Prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de biev.
• Prɔblɛm wit balans ɛn kɔdineshɔn ( ataxia ).
• Di we aw pɔsin kin shek shek .
• Di ɔmon we nɔ de wok fayn, mɔ we di gyal pikin dɛn kin delay fɔ bɔn pikin.

Aw galactosemia kin afɛkt big pipul dɛn?

Big pipul dɛm wae gɛt galactosemia kin liv nɔrmal layf. Bɔt, di wan dɛn we bin gɛt sɔm sayn dɛn we dɛn bin smɔl kin gɛt sɔm prɔblɛm dɛn ɔlsay na dɛn layf. Sɔm sayn dɛm kin smɔl ɔr kin wɔs dipen pan aw dɛn kin kɔntrol aw dɛn de it. Bɔt tin dɛn lɛk we pɔsin nɔ gɛt bɛtɛ ɔmon kin bɔku, ivin we dɛn de trit am.

Bɔku tɛm, uman dɛn we gɛt galactosemia, ivin if dɛn no di sik ɛn trit am kwik, dɛn kin gɛt prɔblɛm wit dɛn ovaria. dis dεn kכl am praymar ovarian insufisεns . Dis kin mek i nɔ izi fɔ gɛt bɛlɛ ɛn kɔntinyu fɔ gɛt bɛlɛ. Dɛn kin nid bak fɔ tek ɔmon riplesmɛnt tɛrapi fɔ ɛp fɔ mek di uman gɛt mɔnt. Dis ɔmon tritmɛnt kin ɛp bak wit prɔblɛm dɛn we gɛt fɔ du wit pikin.

Udat kin gɛt dis sik? Aw i kɔmɔn?

Galactosemia na wan sik we de mek pɔsin gɛt jɛnɛtiks . Na tin we pɔsin kin gɛt frɔm dɛn gret gret granpa dɛn. Pikin go gɛt dis sik if in mama ɛn papa ɔl tu gɛt wan mutated jin fɔ am. If yu mama ɛn papa ɔl tu gɛt di mutated jin, yu gɛt 25% chans fɔ gɛt galactosemia. I kin afɛkt pipul dɛn we kɔmɔt na ɔl difrɛn trayb dɛn.

Di kayn we we kin rili bad , we dɛn kɔl klas galaktosemia, nɔ kin bɔku smɔl. Fɔ tɔk smɔl, i kin afɛkt lɛk 1 pan ɛvri 45,000 pipul dɛn.

Wan kayn we de we nɔ kin rili bad we dɛn kɔl Duarte galactosemia . I kin mɔna smɔl, ɛn i kin afɛkt lɛk 1 pan ɛvri 4,000 pipul dɛn. i nכ rili bi we i nכ ebul fכ daygεst galaktכs, bכt na fכ sεnsitiv to am.

Wetin na di sayn dɛm fɔ pikin we dɛn jɔs bɔn wit galactosemia?

If di pikin we dεn bכn gεt klas galaktosemia, dεn go bigin fכ sho di simptom dεm insay fכ dez afta dεn gi di pikin in bεlε. Dɛn sayn ya kin difrɛn wan wan tɛm:

• Di it nɔ de te.
• I kin slip bɔku tɛm, i kin taya .
• Fɔ vɔmit.
• Rɔnbɛlɛ.
• Big big wet we pɔsin kin lɔs.
• Wik.
• Fɔ nɔ ebul fɔ go bifo .
• Jandis ( jandis ) min se di skin de yɔlɔ.
• Liva de swel.
• Swel na di bɛlɛ ( ascites ).
• Swɛlin rawnd di bren ( ɛdima ).

If yu gɛt ɛni wan pan dɛn sik ya, yu fɔ go to dɔktɔ wantɛm wantɛm.we dכkta dכn no se dis na galaktosemia, dεn simptom dεm ya fכ sכbכt wans dεn dכn pul galaktos na di pikin in it.

Wetin kin mek pɔsin gɛt galactosemia?

Di men rizin fɔ dis na we di jin chenj . Dat min se, chenj na di jin dɛn. Dis fɔ gɛt frɔm di mama ɛn di papa. Mama ɛn papa dɛn ɔl tu kin gɛt dis jin, bɔt dɛn nɔ kin sho di sayn dɛn. So we di pikin gɛt dis sik, i kin bi big sɔprayz.

fכ dis jin we dεn chenj, di εnzym dεm we dεn nid fכ kכnvכlt di shuga galaktכz to enεji nכ de prodyuz fayn fayn wan na di bכdi. Dɔn, di kemikal dɛn we dɛn mek wit galaktɔs kin gɛda na di bɔdi. Tri difrɛn kayn jin dɛn de we de insay dis. Fɔ fala dis, dɛn sheb Galactosemia bak to tri kayn.

Wetin na di difrɛn kayn Galactosemia?

Tayp I (Klasik Galaktɔsemia) .

Dis na di mכst kכmכn εn siriכs fכm f כ galaktosemia. Dɛn kin kɔl am bak klas galactosemia. Na wan muteshon na di GALT jin de mek am . dis jin de mek wan enzym we de brok dכn di shuga galaktכs to tin dεm we yu kin yuz lεk glukכs. insay dis kayn we, di εnzym de kכlכsכl nכ de. Dis kin mek di bɔdi nɔ ebul fɔ dayjɛst di galaktɔs, ɛn i kin gɛda kwik kwik wan.

Tayp II (Galactokinase we nɔ de wok fayn) .

dis sεkכn tכp de kכz fכ wan mכtεshכ n na di GALK1 jin . di εnzym dεm we dis jin de mek de εp fכ digεst di galaktכz. Dis kayn tin nɔr kin gɛt bɛtɛ wɛl bɔdi prɔblɛm pas di fɔs kayn. Di men tin we kin mek pɔsin gɛt katarakt.

Tayp III (Galaktɔs ɛpimɛraz dɛfisiɛns) .

di GALE jin de involv insay dis. dis de mek εnzym dεm bak we de εp fכ digεst galaktכz. if dεn εnzym dεm ya dכn rεdכks, di galaktכz de kכmכt na di bכdi. Dis tɔd kayn kin mek yu gɛt sɔm kayn sik wae nɔr kin pasmak, bɔt sɔmtɛm i kin mek yu gɛt siriɔs sik. If i rili bad, i kin mek pɔsin gɛt katarakt, i kin mek i nɔ ebul fɔ gro fayn, i kin mek i nɔ ebul fɔ tink gud wan, i kin gɛt liva sik, ɛn i kin gɛt prɔblɛm wit in kidni, jɔs lɛk di tayp 1.

Duarte galaktosemia we gɛt di sik

dis kin kכz bak bay wan mכtεshכn na di sem GALT jin we de mek klas galaktosemia. Bɔt insay dis kes, di jɛnɛtik muteshɔn nɔ kin rili bad. di εnzym we de daygεst galaktכz de rεdכks in aktiviti, bכt i nכ de kכmplit. Pipul wae gɛt Duarte galactosemia kin gɛt smɔl smɔl bɛlɛ at wae dɛn it tin wae gɛt galactose, bɔt dɛn nɔr kin gɛt big big wɛl bɔdi prɔblɛm lɛk ɔda kayn. Dɛn nɔ nid fɔ pul galaktɔs kɔmɔt na dɛn it.

Aw dɛn kin no se pɔsin gɛt Galactosemia?

Insay divɛlop kɔntri dɛn lɛk Amɛrika, dɛn kin chɛk ɛni pikin we dɛn jɔs bɔn fɔ si if i gɛt sɔm pan dɛn sik ya. Dɛn tɛst ya kin no dɛn kayn tin ya bifo di sayn dɛm sho. Sɔntɛnde dɛn kin kɔl dis PKU tɛst , bikɔs i kin no ɔda sik dɛn bak, lɛk phenylketonuria .

Dɛn kin du dis tɛst bay we dɛn tek smɔl drɔp blɔd na di pikin in il. dis kin bi lεk 24 awa afta dεn bכn di pikin. If yu pikin gɛt galactosemia, di blɔd tɛst go sho se di GALT ɛnzaym aktiviti nɔ bɔku. Dɔn di mɛdikal tim go du jenɛtik tɛst fɔ si us kayn galaktosemia di pikin gɛt. Sɔm ɔspitul dɛn na Sri Lanka gɛt di tin dɛn we dɛn kin du fɔ du dis kayn tɛst, ɔ yu kin aks yu dɔktɔ bɔt am.

Aw dɛn kin trit galactosemia?

Di wangren tritmɛnt fɔ dis na fɔ pul di galaktɔs kɔmɔt na di it kpatakpata . Galaktɔs na pat pan di shuga we de insay milk we dɛn kɔl laktɔs, so i kin nid fɔ pul ɔlmost ɔl di tin dɛn we dɛn mek wit milk. Dis min se yu nɔ go ebul fɔ gi mama in milk, kaw in milk, yogɔt, ɔ chiz. nyu bכbi dεm kin gi soya-bεys fכmula כ spεshal fכmulayt εlimεnt fכmula.

Pikin ɛn big pipul dɛn we nɔ de it tin dɛn we dɛn mek wit milk kin nɔ gɛt kalsiɔm ɛn vaytamɛn D. So dɛn kin nid fɔ tek sɔpɔtmɛnt dɛn. Dis kin ɛp fɔ mek di bon dɛn strɔng.

Us kayn tritmɛnt nid fɔ de fɔ lɔng tɛm sayd ɛfɛkt?

Sɔm pikin dɛn kin nid ɛkstra ɛp fɔ lan ɛn divɛlɔp as dɛn de gro. Dis min se:

• Tɛrapi fɔ tɔk .
• Ɔkupeshɔn tɛrapi min fɔ ɛp wit ɛvride wok.
• Bihayvya tɛrapi .
• Plan dɛn fɔ lan we dɛn dɔn tayt .

Yɔŋ pikin dɛn, mɔ di gyal pikin dɛn, kin nid ɔmon tɛrapi fɔ ɛp dɛn fɔ rich dɛn yɔŋ pipul dɛn ɛn fɔ gɛt mɔnt.

Yu tink se dɛn kin mek dɛn nɔ gɛt Galactosemia?

Bikɔs na tin we pɔsin kin gɛt frɔm in bɔdi, yu nɔ go ebul fɔ kɔntrol if yu ɔ yu pikin go gɛt am. Bɔt yu ɛn yu patna kin gɛt jenɛtik tɛst fɔ si if yu gɛt di muteshon bifo yu bɔn pikin. Yu kin bi pɔrsin wae gɛt dis sik, bɔt yu nɔr kin gɛt sɔm kayn sik. If yu no dis kwik, yu kin plan fɔ mek yu pikin dɛn gɛt am. We yu gɛt advays bɔt yu jɛnɛtiks, dat kin ɛp yu fɔ ɔndastand mɔ bɔt dis. Fɔ no di sik kwik kwik wan na di bɛst we fɔ ridyus di bad tin dɛn we kin apin.

Wetin na di layf we pɔsin we gɛt galactosemia kin liv?

If dɛn no di sik kwik kwik wan ɛn fala di it we nɔ gɛt galaktɔs, di layf we pɔsin kin liv na nɔmal tin. Bɔt if di ɔgan dɛn we de na di bɔdi dɔn pwɛl fɔ ɔltɛm we di pikin we dɛn jɔs bɔn, i kin afɛkt di wɛlbɔdi we go de fɔ lɔng tɛm.

Aw big pipul dɛm wae gɛt dis sik kin kia fɔ dɛnsɛf?

Di tin we impɔtant pas ɔl fɔ ɛnibɔdi we gɛt galaktosemia na fɔ it tin dɛn we nɔ gɛt galaktoz . Dis nid fɔ kɔrɛkt am bɔku tɛm. Bɔku big pipul dɛn kin si se i fayn fɔ jɔyn kɔmyuniti usay pipul dɛn lɛk dɛn kin sheb di risɛp ɛn ɛkspiriɛns. If di sayn dɛm stil de, dis kayn sɔshal sɔpɔt na impɔtant tin.

Big pipul dɛm we gɛt galactosemia fɔ go to dɛn dɔktɔ ɔltɛm fɔ chɛk fɔ si if dɛn gɛt di sik. Dɛn tɛst ya kin bi:

• Egzamin fɔ di yay (fɔ katarakt).
• tεst di fכnshכn fכ di nεv sεstem (fכ tin dεm lεk εgzibit fכnshכn, atεnshכn dεfisit/haypa aktiviti dizכrd (ADHD) , tremכr, εn ataxia ).
• di bon dεnsiti tεst (fכ di kalsiכm εn minral dεfichεns).
• Fɔ chɛk di ɔmon lɛvɛl (espɛshali pan uman dɛn).

We yu de du chɛk ɔltɛm lɛk dis, dɛn kin no ɛnitin we nɔ fayn kwik kwik wan ɛn trit am bifo i rili bad.

Pan ɔl we galaktosemia na sik we nɔ kin apin so ɔltɛm, dɛn kin no am kwik kwik wan bay we dɛn de tɛst di jɛnɛtiks. If yu gɛt bɛlɛ ɔ yu plan fɔ bɔn pikin, dɛn kin tɛst yu ɛn yu patna fɔ di jin fɔ galaktosemia. If una ɔl tu gɛt di jin, 25% chans de fɔ mek yu pikin gɛt am. Awareness na di big tin we de mek pɔsin gɛt trɛnk. Dis kin ɛp yu fɔ plan bifo tɛm fɔ avɔyd di bad bad tin dɛn we kin apin to dis sik.

If dεn dכn no se yu nyu bכbi gεt dis kכndyushכn, yu kin fil bכku filin (shכk, kכnfyushכn). Bɔrku tɛm, dɛn nɔr kin ɛkspɛkt fɔ gɛt galaktɔsemia, mɔ if nɔr famili histri bɔt dis sik. Bikɔs i nɔ kin bɔku, sɔntɛnde dɛn nɔ kin no am fayn ivin pan dɔktɔ dɛn. Bɔt if dɛn no am kwik kwik wan, dɛn kin ebul fɔ stɔp di bad bad tin dɛn we galaktosemia kin du.

If yu pikin de it fayn, i go ebul fɔ liv in layf we nɔmal. Sɔm divɛlɔpmɛnt prɔblɛm kin kam, we kin nid fɔ gɛt ɔda tritmɛnt. Dɛn prɔblɛm dɛn ya we mama ɛn papa dɛn nɔ bin de tink se kin apin to dɛn fɔ difrɛn rizin dɛn. Bɔt we yu no bɔt dis kayn tin, yu gɛt di bɛnifit fɔ ebul fɔ rɛdi fɔ dɛn prɔblɛm dɛn de bifo tɛm, no dɛn kwik kwik wan, ɛn ɛp kwik kwik wan fɔ mek yu ebul fɔ du di bɛst tin.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba frɔm dis atikul (Take-Home Message) .

Okay, so naw yu don geht beta andastan boht wetin wi bin de tok boht, Galactosemia. Na sɔm impɔtant tin dɛn we yu fɔ mɛmba:

• If yu no am kwik kwik wan, i de sev yu layf: We yu de chɛk di nyu bɔbɔ dɛn, yu kin no dis kwik kwik wan, we kin mek yu nɔ gɛt bɔku siriɔs prɔblɛm dɛn.
• I impɔtant fɔ kɔntrol di it: Dɛn fɔ fala di it we nɔ gɛt galaktɔs (espɛshali we nɔ gɛt laktɔs) ɔl di layf.
• I impɔtant fɔ gi advays bɔt di jɛnɛtiks: We mama ɛn papa dɛn kin du di jenɛtik tɛst bifo dɛn bigin famili, dɛn kin no di prɔblɛm we kin mek pikin gɛt dis sik.
• Sɔpɔt fɔ lɔng tɛm: Dɛn fɔ de wach di pikin in growth, lanin, ɛn ɔl in wɛlbɔdi ɔltɛm. Dɛn fɔ gi sɔpɔt fɔ mɛn pipul dɛn if nid de. Di mɛdikal chɛk-ap ɔltɛm ɛn sɔpɔt frɔm sɔpɔt grup dɛn impɔtant bak fɔ big pipul dɛn.
• Nɔto yu wan de: Fɔ dil wit dis sik kin tranga. Bɔt if dɔktɔ dɛn, pipul dɛn we sabi bɔt it, pipul dɛn we de mɛn pipul dɛn, ɛn pipul dɛn we dɛn lɛk de sɔpɔt dɛn, dɛn kin ebul fɔ du dis waka.

Nɔ wɔri, if yu no ɛn du di rayt tin, pikin ɛn big pɔsin we gɛt galactosemia kin liv gud layf.

` Galactosemia, Galactosemia, nyu bכn pikin dεm, jεnεtik sik dεm, εnzym dεm, mεtabolik sik dεm, it dεm, nyu bכbi dεm skrεnin, jεnεtik dizכrd