Yu smɔl pikin gɛt pas wan wɛlbɔdi prɔblɛm? Sɔntɛm yu dɔn notis se yu gɛt at prɔblɛm, yu kin sik ɔltɛm, ɔ yu kin delay fɔ gro. Bɔku pan dɛn prɔblɛm ya we tan lɛk se dɛn nɔ gɛt natin fɔ du wit dɛnsɛf kin gɛt wan kɔz. Dat na wan jenɛtik kɔndishɔn we wi go tɔk bɔt tide. Dɛn kɔl am DiGeorge Syndrome.
Fɔ tɔk am simpul wan, wetin na DiGeorge Syndrome?
Dis na sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Wi bɔdi gɛt sɛl dɛn. Ɛni sɛl gɛt sɔntin we dɛn kɔl kromozom. Tink bɔt dɛn tin ya as big buk dɛn we de rayt aw dɛn mek ɔltin na wi bɔdi. So, dis kכndyushכn kin apin we wan sכmכl pat, lεk wan pej, pan dis buk we dεn kכl kromozom 22 nכ de. Fɔ tɔk klia wan, dɛn kin kɔl dis bak 22q11.2 dilit sindrom . dat min se di pat we dεn kכl 11.2 na di lכng an we dεn kכl 'q' na di kromozom 22 nכ de.
we dis smɔl pat pan di jin nɔ de, i kin afɛkt di we aw sɔm pat dɛn na di pikin in bɔdi de gro ɛn aw i de wok. Sɔm pikin dɛn nɔ kin gɛt am tumɔs , bɔt ɔda wan dɛn kin gɛt am smɔl mɔ. I kin difrɛn frɔm wan pikin to ɔda pikin. Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, wi kin kɔntrol di sik dɛn ɛn ɛp di pikin fɔ liv gud layf.
Wetin na de sayn dɛm wae dɛn kin si pan dis sik?
Nɔto ɔl pikin dɛn we gɛt dis sik na di sem. Sɔm pikin dɛn nɔ kin sho ɛni sayn atɔl. Ɔda wan dɛn kin sho sɔm sayn dɛn we kin afɛkt sɔm pat dɛn na di bɔdi. Lɛ wi tek tɛm luk di men prɔblɛm dɛn we wi kin si.
| Di bɔdi sistɛm we dɛn afɛkt | Simptom dɛm wae yu kin si |
|---|---|
| Prɔblɛm dɛn we De na di At |
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| Imyun sistεm (Immune Deficiency) . | |
| Di Difrɛn Tin dɛn we De Na di Fes | |
| divεlכpmεnt εn lanin fכ di bren (Cognitive Issues) . | |
| Ɔda Sayn ɛn Simptom dɛn |
|
Wetin mek dis kin apin to pikin? Wetin na di rizin?
as wi bin dכn tכk bכt, dis kin kכz fכ di sכmכl pat pan di kromozom 22. Tu men rizin dεm de we mek dis kin apin.
1. Random event: Dis na di wan we kɔmɔn pas ɔl (9 pan 10) . we pikin bכn, dat na di fכs tεm we di mama in eg εn di papa in sεl de jכyn, dis pat pan di kromozom kin lכs bay aksidεntli. Dis na sɔntin we kin apin randomly.
2. Dɛn kin gɛt frɔm mama ɛn papa: I nɔ kin bɔku (lɛk 1 pan ɛvri 10) .Pikin kin gɛt dis sik frɔm in mama ɔ papa we gɛt am. i de inhεrit insay wan ``autosomal dominant`` we. Dis min se ivin if wan pan di mama ɛn papa gɛt dis sik, i go mɔs bi se di pikin go gɛt am.
Di tin we impɔtant pas ɔl na dis. Bɔrku tɛm, dis na random tin, so nɔr fil bad bɔt am, tink se na bikɔs ɔf ɛnitin we yu du ɔ nɔ du we yu gɛt bɛlɛ. Dis nɔto yu fɔlt atɔl.
Aw dɔktɔ dɛn kin fɛn dis?
Sɔntɛnde, tɛst bifo dɛn bɔn pikin kin gi yu tin fɔ no bɔt di sik. fכ egzampl, dεn kin no am we dεn de du כltra saund bifo uman bכn כ spεshal tεst lεk amniocentesis.
Bɔt bɔku tɛm, dɛn kin no dis sik afta dɛn bɔn di pikin. We di dɔktɔ de chɛk di pikin, i kin sɔprayz dis bay we i si di spɛshal tin dɛn we de na di pikin in fes ɛn in yes. Dɔn, dɛn kin du bɔku tɛst dɛn fɔ no if pɔsin tink se dɛn dɔn tink.
Test fɔ dis
- Echocardiogram: Na skan fɔ luk aw di at de wok ɛn aw i tan.
- Blɔd tɛst: Chɛk di kalsiɔm lɛvɛl na di blɔd, du kɔmplit blɔd kɔnt (CBC) ɛn chɛk di wayt blɔd sɛl kɔnt.
- Chɛst X-ray: Chɛk di sayz fɔ di taymus gland.
- Kidni ɔltrasɔund
- spεshal tεst dεm we riliyt to imuniti: fכ egzampl, `Immunophenotyping` εn `Flow cytometry`.
- jεnεtik tεst: dis na wetin spεshal kכnfכm if wan pat pan kromozom 22 nכ de.
Aw dɛn kin trit dis?
Di jenɛtik dɛfɛkt we de mek dis sik nɔ go ebul fɔ pul am. Bɔt dɛn kin trit di sik ɛn prɔblɛm dɛn we kin kam wit am fayn fayn wan . Dis nɔto sɔntin we na wan dɔktɔ nɔmɔ go ebul fɔ du. Wan tim we gɛt spɛshal pipul dɛn we sabi du difrɛn tin dɛn kin wok togɛda fɔ trit di pikin.
Di we aw dɛn kin trit di pikin kin difrɛn difrɛn wan fɔ di pikin in sik.
- Dɛn kin gi antibayɔtik fɔ di wan dɛn we gɛt infɛkshɔn ɔltɛm.
- If di blɔd kalsiɔm lɛvɛl smɔl , dɛn kin gi di kalsiɔm sɔpɔtmɛnt .
- Dɛn kin trit di prɔblɛm dɛn we pɔsin kin yɛri wit yes tyub ɔ tin fɔ ɛp pɔsin fɔ yɛri.
- Tɔk, fyzikal ɛn wok tɛrapi de trit dilɛys fɔ tɔk, waka ɛn ɔda tin dɛn.
- Dɛn kin yuz ɔmon riplesmɛnt tɛrapi fɔ trit ɔmon prɔblɛm dɛn.
- Sɔntɛm dɛn kin nid fɔ du ɔpreshɔn fɔ pɔsin we gɛt at prɔblɛm ɔ we pɔsin in palata skata.
- Dɛn kin rifer pikin dɛn we gɛt disabiliti fɔ lan to spɛshal ɛdyukeshɔn program dɛn na skul.
Ustɛm yu fɔ kɛr yu pikin go to dɔktɔ?
Bɔku tɛm, di dɔktɔ go no dis sik we dɛn bɔn am ɔ we dɛn de chɛk am ɔltɛm we i smɔl. Bɔt if yu tink se yu pikin gɛt ɛni wan pan di sayn dɛn we wi dɔn tɔk bɔt, tɔk to yu dɔktɔ wantɛm wantɛm.
Na mɔ if yu pikin gɛt ɛni prɔblɛm fɔ blo, kɛr am go na di ɔspitul we de nia am na di Imejɛnsi Dipatmɛnt (ETU) wantɛm wantɛm.
As mama ɔ papa, yu kin fil bad ɛn yu kin fil bad we yu kam fɔ no se yu pikin gɛt wan sik we dɛn kɔl DiGeorge Syndrome. Dat na nɔmal tin. Bɔt mɛmba se if dɛn trit dɛn pikin ya di rayt we ɛn sɔpɔt dɛn, dɛn kin liv aktif, gladi layf. If nɔto tin dɛn we kin mek pɔsin in layf de pan denja lɛk siriɔs at, bɔku pikin dɛn kin liv nɔmal layf.
Mɛsej we dɛn kin kɛr go na os
- DiGeorge syndrome na wan jεnεtik kכndyushכn we de kכz fכ lכs sכm pat pan di kromozom 22.
- Bɔku tɛm, dis na tin we pɔsin kin du bay wilful. Nɔto yu fɔlt.
- Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm kin gɛt bad bad tin fɔ du, ɛn ɔda wan dɛn kin gɛt siriɔs sik lɛk at sik.
- Pan ɔl we nɔr patikyula mɛrɛsin nɔr de fɔ dis, fɔ trit di sik kin ɛp di pikin fɔ liv wɛl ɛn aktif layf.
- Di sɔpɔt we wan tim we gɛt spɛshal dɔktɔ dɛn de gi impɔtant fɔ dis. Tɔk to yu dɔktɔ opin wan bɔt dis.











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