Sɔntɛnde, as mama ɛn papa, wi kin wɔri smɔl we wi si pikin we dɛn jɔs bɔn in fes ɔ in finga dɛn we dɛn put difrɛn we smɔl, nɔto so? Na di sem tɛm, dɔktɔ dɛn kin tɔk bak se sɔm pikin dɛn kin gɛt “smɔl ol na dɛn at.” Tide wi de tɔk bɔt wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we kin jɔyn sɔm pan dɛn tin ya ɛn dɛn dɔn ripɔt am na smɔl famili dɛn nɔmɔ na di wɔl. Dɛn kɔl dis Char Syndrome insay mɛdikal sayɛns. Nɔ fred, lɛ wi ɔndastand ɔltin bɔt dis simpul wan.
Wetin mek dis de apin? Wetin na di rizin fɔ dis?
Fɔ tɔk am simpul wan, ɔl pat na wi bɔdi, ɛvri ɔgan, gɛt sɔm instrɔkshɔn dɛn insay wi bɔdi bɔt aw i fɔ divɛlɔp. Wi kin kɔl dɛn jin ya . so, dis Cha sεndrכm de kכz fכ chenj, כ mכtεshכn, insay wan patikyula jin we dεn kכl `TFAP2B`. dis jin na in de sho di pikin fכ mek wan protin we i nid fכ in fes, in an, εn at fכ divεlכp fayn we i de gro na di bεlε.
Tu men we dɛn de we dis tin kin apin:
1. Heredity: Pikin we mama ɔ papa bɔn wit Cha syndrome gɛt 50% chans fɔ gɛt dis sik. Dis min se di pikin kin gɛt di bad tin we de na da jin de bak.
2. De novo: sכmtεm, ivin if nכ wan pan di famili nכ gεt di kכndishכn, nyu mכtεshכn na di `TFAP2B` jin kin apin bay chans we dεn bכn pikin na di bεlε. Ivin da tɛm de, di pikin kin gɛt Cha syndrome.
Wetin na di men sayn dɛm fɔ dis?
Cha syndrome kin mɔs afɛkt tri pat dɛm na di bɔdi: di fes, an, ɛn at. Lɛ wi luk dɛn tin ya wan bay wan.
| Di pat na di bɔdi we dɛn afɛkt | Di sayn dɛn we pɔsin kin si |
|---|---|
| Di tin dɛn we pɔsin kin si na in fes |
|
| Di Tin dɛn we De Insay di An | Di sayn we dɛn kin si pan bɔku pipul dɛn na di midul finga we rili shɔt ɔ we nɔ de . Pan ɔl we dɛn dɔn ripɔt ɔda difrɛns dɛn we de na di limb dɛn, dɛn nɔ kin bɔku. |
| Di Kɔndishɔn fɔ di At | Bɔku pikin dɛn gɛt wan sik we dɛn kɔl Patent Ductus Arteriosus (PDA) . Fɔ tɔk am simpul wan, we pikin de na di bɛlɛ, smɔl kɔnekshɔn de bitwin tu pan di men blɔd vesel dɛn we de kɛr blɔd kɔmɔt na di at. Dis go klos in wan insay sɔm dez afta dɛn bɔn am. Bɔt insay dis kes, di ol kin stil opin. Wi de kɔl am PDA. |
If dɛn nɔ trit dɛn, sɔm pikin dɛn we gɛt PDA kin gɛt prɔblɛm dɛn lɛk fɔ blo kwik, i nɔ kin izi fɔ gi dɛn tin fɔ it, ɛn dɛn nɔ kin gɛt bɛtɛ wet. If i tranga, dis kin ivin go bifo te i nɔ de wok fayn.
Aw dɛn kin no dis sik?
If yu dɔktɔ saspek dis we i de chɛk yu pikin, i kin sɛn yu to pɔsin we de stɔdi bɔt yu jɛnɛtiks ɔ pɔsin we de advays yu bɔt yu jɛnɛtiks.
na de, wan jεnεtik tεst kin dεfinitivli kכnfכm if difεkt de na di `TFAP2B` jin we de mek dis kכndyushכn. Fɔ dis, dɛn kin tek blɔd sɛmpul, skin ɔ ia tisu sɛmpul.
Afta di dɔktɔ dɔn no se i gɛt di sik, i kin tɛl yu fɔ du bɔku tɛst fɔ no mɔ bɔt di pikin in wɛlbɔdi:
- Dental checkup: Chek fɔ ɛni prɔblɛm wit di tut divɛlɔpmɛnt afta yu dɔn ol 3 ia.
- Wan ay ɛgzam: Chɛk fɔ si if yu gɛt strabismus ɔ yu gɛt prɔblɛm wit yu yay.
- Wan tɛst fɔ yɛri: Chɛk fɔ si if yu nɔ yɛri fayn.
- At chɛk-ap: Chɛk fɔ PDA ɔ ɔda at kɔndishɔn.
- Fɔ chɛk yu bɔdi: Chɛk fɔ ɔda prɔblɛm dɛn we de wit di an ɛn fut dɛn.
- Wan ɛgzamin fɔ slip prɔblɛm ɛn ed shep ɛn saiz .
If yu pikin gɛt dis sik, i rili impɔtant fɔ tɔk to yu dɔktɔ bɔt aw ɔltɛm dɛn fɔ du dɛn tɛst ya.
Wetin na di tritmɛnt dɛn we dɛn kin gɛt?
Fɔs, dɛn pikin ya nɔ nid ɛni spɛshal mɛrɛsin fɔ di chenj dɛn we de apin na dɛn fes ɔ dɛn finga. Bɔt we di pikin big smɔl, chans de fɔ mek ɔda pikin dɛn na skul ɔ na di sosayti de provok am ɛn buli am . So, as mama ɛn papa, i rili impɔtant fɔ mek wi rili pe atɛnshɔn to dis ɛn ɛp fɔ bil di pikin in maynd trɛnk.
Bɔt fɔ gɛt PDA na di at nid fɔ gɛt tritmɛnt. Bɔku men we dɛn de we dɔktɔ dɛn kin yuz fɔ du dat.
| Di we aw dɛn kin trit am | Wan simpul diskripshɔn |
|---|---|
| Di mɛrɛsin dɛn we dɛn kin yuz | Dɛn kin yuz NSAID fɔ lɔk di PDA ol dɛn na pikin dɛn we dɛn bɔn bifo tɛm. Bɔt dis we ya nɔ kin wok fɔ pikin dɛn we dɔn bɔn ful, pikin dɛn we dɔn big, ɔ big pipul dɛn. |
| Ɔpreshɔn | Di dɔktɔ kin mek smɔl say bitwin di rib dɛn fɔ rich na di at ɛn i kin lɔk di ol we opin wit stich ɔ klip. |
| Di we aw fɔ du di kateshɔn | Dis na tin we simpul pas fɔ du ɔpreshɔn. wan kateta (wan tin we tan lɛk tin we kin chenj chenj) kin pas tru wan blɔd vesel na di groin to di at, ɛn dɛn kin put smɔl plɔg ɔ kɔyl insay am fɔ lɔk di ol. |
| Wachful Waitin | Sɔntɛnde, if di PDA ol rili smɔl ɛn nɔ de kɔz ɛni ɔda wɛlbɔdi prɔblɛm, di dɔktɔ kin disayd nɔ fɔ du natin pas fɔ wach di kɔndishɔn bay we i de du tɛst. |
Mɛsej we dɛn kin kɛr go na os
- Cha sindrom na wan sik wae de kam wit jεnεtiks wae nɔr kin apin. Nɔ fred fɔ yɛri bɔt am.
- dis kin min fכ chenj di we aw di fes, di an dεm (especially di sכm finga), εn di at (PDA kכndishכn).
- If yu dɔktɔ gɛt ɛni dawt, we yu de tɛst yu jɛnɛtiks, yu go ebul fɔ no dis kɔrɛkt wan.
- Pan ɔl we chenj na di fes ɛn an nɔ kin nid fɔ gɛt tritmɛnt, PDA kɔndishɔn na di at kin nid fɔ trit bɔku tɛm.
- I rili impɔtant fɔ mek yu du ɔl di mɛdikal tɛst dɛn we yu nid fɔ du fɔ yu pikin di rayt tɛm ɛn fala di instrɔkshɔn dɛn we di dɔktɔ tɛl yu.
- As mama ɛn papa, na wi wok fɔ gi wi pikin dɛn gud maynd wɛlbɔdi ɛn bak fɔ mek dɛn gɛt wɛlbɔdi.
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