Yu pikin big smɔl pas ɔda pikin dɛn we dɛn bɔn am? We dat apin, yu kin gladi, bɔt yu kin want fɔ no smɔl bak, sɔntɛm yu kin ivin fred, ɛn de wɔnda se, "Wetin mek mi pikin big so?" Bɔku tɛm, dis kin jɔs bi bikɔs dɛn bɔn yu wit pikin we lɔng ɛn we gɛt wɛlbɔdi. Bɔt, na smɔl tɛm nɔmɔ, dis kin bi bikɔs ɔf wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm. Tide, wi de tɔk bɔt wan pan dɛn kayn sik ya, we na Beckwith-Wiedemann Syndrome (BWS) . Nɔ fred fɔ yɛri dis nem. If yu no dis, yu ɛn yu dɔktɔ kin wok togɛda fɔ kia fɔ yu pikin fayn fayn wan.
Fɔ tɔk am simpul wan, wetin na Beckwith-Wiedemann Syndrome (BWS)?
Dis na wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks. wetin kin apin na dat sכm jin dεm we de involv fכ mek di pikin in bכdi gro kin wok pasmak. Dis kin mek sɔm pat dɛn na di pikin in bɔdi ɔ di wan ol bɔdi kin gro kwik kwik wan pas aw i kin gro.
Dɛn kin kɔl dis bak "Beckwith-Wiedemann spɛktrum." "Spɛktrum" min lɛk spɛktrum. Dis min se di sik nɔ de afɛkt ɔl pikin di sem we. Sɔm pikin dɛn kin gɛt wan ɔ tu pan di sayn dɛn nɔmɔ we gɛt fɔ du wit dis. Ɔda pikin dɛn kin gɛt bɔku sayn dɛn. So, no tu pikin dεm we gεt dis kכndyushכn nכ de εva di sem.
De impɔtant tin na dat, pan ɔl we nɔr de fɔ mɛn dis sik fɔ ɔltɛm, rili gud tritmɛnt dɛn de fɔ kɔntrol di sayn dɛm ɛn fɔ mek yu nɔr gɛt prɔblɛm. If dɛn gɛt di rayt mɛrɛsin, bɔku pan dɛn pikin ya kin liv nɔmal, wɛlbɔdi layf.
Wetin na de men tin wae de sho se dis sik?
As wi bin dɔn tɔk, nɔto ɔl pikin go gɛt ɔl dɛn sik ya. Bɔt sɔm de we kɔmɔn. Yu dɔktɔ go sɔspɛkt BWS if dɛn si wan ɔ mɔ pan dɛn sik ya.
| Di kwaliti we pɔsin gɛt | Simpul ɛksplen |
|---|---|
| Big pas aw i fɔ bi (Macrosomia) . | We dɛn bɔn dɛn, dɛn wet ɛn ayt kin rili ay pas di wan dɛn we avrej pikin gɛt. Dɛn lɔng pas ɔda pikin dɛn we gɛt di sem ej. Bɔt dis we aw dɛn kin gro kwik kwik wan kin slo we dɛn ol 8 ia, ɛn dɛn kin kam bak to dɛn nɔmal ayt we dɛn big. |
| Big tɔŋ (Macroglossia) . | Di tɔŋ big pas aw i kin bi. Dis kin mek i nɔ izi fɔ di pikin fɔ milk ɛn leta tɔk. Sɔntɛnde, prɔblɛm kin apin bak fɔ blo. |
| Prɔblɛm dɛn we de na di bɛlɛ (Omphalocele / Umbilical Hernia) . | Omphalocele: na kכndyushכn we di pikin in intestin dεm, lεk di intestin dεm, de kכmכt tru di nεvεl εn wan tכn mεmbran de kכba am insted fכ de insay di bכdi. כmbilikal εnia: Na di bכdi tisu dεm we de kכmכt tru di nεvεl. Dɛn kin kɔrɛkt dɛn tin ya we dɛn du ɔpreshɔn. |
| Wan say na di bɔdi we de big (Hemihyperplasia) . | wan say na di bכdi (e.g., di rayt say) de gro big pas di כda say (di lεft say). Dis kin bi fɔ di wan ol sayd ɔ jɔs wan an ɔ leg. |
| Lɔw blɔd shuga (Hypoglycemia) na di pikin we dɛn jɔs bɔn | Insay di fɔs de ɔ wik afta dɛn bɔn di pikin, di shuga na in blɔd kin go dɔŋ bad bad wan. Fɔ manej dis fayn fayn wan impɔtant fɔ mek yu bren divɛlɔp. |
| Ɔda tin dɛn we de apin | yu kin si di liva we big (hepatomegaly), di kidni we nɔ de wok fayn, ɛn smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl. |
Yu tink se wi fɔ rili fred fɔ gɛt kansa?
Dis na di tɔpik we de mek mama ɛn papa dɛn fred pas ɔl we i kam pan BWS. Yɛs, pikin dɛn we gɛt BWS kin gɛt sɔm kayn kansa we dɛn kin gɛt we dɛn smɔl (mɔ di Wilms tumor, we na kansa na dɛn kidni, ɛn hepatoblastoma, we na kansa na dɛn liva) pas ɔda pikin dɛn.
Bɔt, wi nid fɔ ɔndastand sɔm tin dɛn klia wan ya.
1. Pan ɔl we di risk bɔku, ɔltogɛda i stil smɔl. Dis risk kin afɛkt lɛk 7-8 pan 100 pikin dɛm wae gɛt BWS.
2. Dis risk de hכy pasmak insay di fכs 8 ia dεm we i de liv. Afta dat, di risk kin dכn bכku bכku wan.
3. Di tin we impɔtant pas ɔl - fɔ chɛk-ap ɔltɛm fɔ di mɛrɛsin!Bikɔs dɔktɔ dɛn no bɔt dis prɔblɛm, dɛn kin chɛk ɔl di pikin dɛn we gɛt BWS ɔltɛm. Bɔku tɛm, dɛn kin du ɔltra saund skan na di bɛlɛ ɛn blɔd tɛst (AFP tɛst) ɛvri tri mɔnt.
Di men bɛnifit fɔ dɛn chɛk-ap ya ɔltɛm na dat, if kansa rili kam, dɛn kin no am kwik kwik wan. Dɔn , di chans fɔ mek i wɛl kɔmplit wan wit tritmɛnt kin rili bɔku. So, di tin we impɔtant pas ɔl na fɔ nɔ fred dis we yu nɔ nid, bɔt fɔ mek dɛn du di tɛst dɛn di rayt tɛm akɔdin to di dɔktɔ in instrɔkshɔn.
Wetin mek dis de apin? Wetin na di rizin dɛn?
Di rizin fɔ dis na sɔntin we kɔmplikt smɔl. Ɛni sɛl na wi bɔdi gɛt sɔntin we dɛn kɔl kromozom. Dɛn tin ya tan lɛk di buk dɛn we de sho aw fɔ bil wi bɔdi. insay BWS, chenj de insay di fכnshכn fכ sεvεra jin dεm na di kromozom 11 we de kכntro di growth.
fכ simpul wan, di jin dεm we de "kכntrol" di growth de kכmכt sכmtεm, εn di jin dεm we de "drive" growth de bi mכr aktif. Dɛn kɔl dis jɛnɛtik imprintin .
- Bɔku tɛm dis kin apin bay chans: lɛk 85% pan di pikin dɛn we gɛt BWS nɔ gɛt ɛni famili histri bɔt di sik. Dis min se dis jεnεtik chenj de apin bay chans, randomly.
- Rarely inherited: Smɔl pasɛnt, lɛk 10-15%, kin gɛt wan jenɛtik chenj we gɛt fɔ du wit dis kɔndishɔn frɔm wan pan dɛn mama ɛn papa.
- Link to ART: Risach dɔn sho se pikin dɛn we dɛn gɛt bɛlɛ tru assisted reproductive technology (ART), lɛk IVF (In Vitro Fertilization) , gɛt smɔl risk fɔ gɛt kɔndishɔn lɛk BWS. Bɔt, dɛn stil de du risach bɔt dis link.
Aw dɔktɔ dɛn kin no bɔt dis? (Diagnosis) .
Dɛn kin no bɔt BWS bifo ɔ afta dɛn bɔn di pikin.
Diagnosis bifo dɛn bɔn pikin
We dɛn de du ɔltra saund skan we uman gɛt bɛlɛ, di dɔktɔ kin sɔprayz se i gɛt BWS if i si dɛn tin ya:
- Di pikin big pas aw i fɔ bi.
- di bכku bכku wata we de rawnd di pikin (polyhydramnios) .
- di plasεnta we de mek di pikin big
- Di kidni we de big (nephromegaly) .
- Prɔblɛm na di bɔdi na di bɛlɛ (omphalocele) .
If yu si dɛn sayn ya, yu dɔktɔ kin kɔnfirm di sik bay we i du spɛshal jenɛtik tɛst, lɛk amniocentesis (amniotic fluid testing).
afta dεn bכn di pikin (Postnatal Diagnosis) .
afta di pikin bכn, di dכkta go egzamin di pikin εn luk fכ di fכs sayn dεm we wi bin dכn tכk bכt (big tכng, wan say na di bכdi big, εn כda tin dεm). If ɛni dawt de, dɛn kin tek blɔd sɛmpul frɔm di pikin ɛn du spɛshal jenɛtik tɛst fɔ no if di pikin gɛt BWS ɛn wetin na di kɔz.
Wetin na di tritmɛnt dɛn? (Tritmɛnt)
Bikɔs BWS kin afɛkt bɔku difrɛn pat dɛn na di bɔdi, nɔto jɔs wan dɔktɔ kin trit pikin. Wan tim we gɛt spɛshal dɔktɔ dɛn, we gɛt wan dɔktɔ we de mɛn pikin dɛn, dɔktɔ dɛn we de du ɔpreshɔn, ɛn pipul dɛn we de mɛn di pikin fɔ tɔk, kin kia fɔ di pikin.
Dɛn kin disayd aw fɔ trit di pikin bay di sayn dɛn we di pikin gɛt.
| Prɔblɛm | Tritmɛnt ɛn manejmɛnt |
|---|---|
| Lɔw blɔd shuga (Hypoglycemia) . | Gi glukɔs (shuga saline) tru wan vein, gi milk ɔltɛm, ɛn sɔm tɛm dɛn de gi mɛrɛsin. Dɛn kin manej dis fayn fayn wan na di ɔspitul. |
| Big tɔŋ (Macroglossia) . | Yuz spɛshal nipl fɔ gi pikin in mama in bɛlɛ, fɔ tɛrapi fɔ tɔk, yuz CPAP mashin if i nɔ izi fɔ blo we i de slip. Sɔm pikin dɛn kin nid fɔ du ɔpreshɔn fɔ ridyus dɛn tɔŋ. |
| Prɔblɛm dɛn we de na di bɛlɛ (Omphalocele) . | Wantɛm afta dɛn bɔn di pikin ɔ jɔs afta dat, dɛn kin ɔpreshɔn di ɔgan dɛn we kɔmɔt na do bak insay di bɛlɛ ɛn lɔk di bɛlɛ wɔl. |
| Wan say na di bɔdi we de big (Hemihyperplasia) . | If difrɛns de pan di lɔng we di leg dɛn lɔng, dɛn kin kɔrɛkt am wit di yus fɔ spɛshal sus (ɔtotiks). Di dɔktɔ kin wach dis we aw pɔsin de gro ɔltɛm. |
| Risk fɔ gɛt kansa | te to lεk 8 ia, dεn kin du bכdi כltra saund skan εn blכd tεst (AFP) εvri 3 mכnt. |
Us kayn fiuja di pikin go gɛt? (Prɔgnosis) .
Dis kin bi di big kwɛstyɔn we de na yu maynd. Pan ɔl we BWS na kɔmpleks sik, bɔku pan di pikin dɛm wae gɛt dis sik de liv fayn fayn wan, gladi, ɛn nɔrmal layf.
Bɔku tin dɛn de we kin mek di pikin gɛt tumara bambay:
- Wetin na di sayn dɛm we di pikin gɛt ɛn aw dɛn kin tranga?
- Aw dɛn bin mek di diagnosis kwik kwik wan.
- If dɛn du tritmɛnt ɛn kansa skrinin di rayt tɛm.
If dɛn no di sik kwik kwik wan, gi dɛn di rayt tritmɛnt, ɛn kip am ɔnda dɔktɔ ɔltɛm, di pikin kin ɛkspɛkt fɔ gɛt rili gud tin fɔ du.
We yu kam fɔ no se yu pikin gɛt BWS, yu kin fil shɔk, sɔri, ɛn fred. Na nɔmal tin. Yu go gɛt bɔku kwɛstyɔn dɛn. Tɔk to yu dɔktɔ bɔt ɔl dɛn tin ya. I go ebul fɔ mek yu ɔndastand di patikyula sik we yu pikin gɛt. Mɛmba se nɔto yu wangren de. Wan big tim de we gɛt dɔktɔ dɛn we go ɛp yu. Tugeda, una kin mek di bεst envayroment fכ yu pikin fכ gro up gladi εn hεlth.
Mɛsej we dɛn kin kɛr go na os
- Beckwith-Wiedemann Syndrome (BWS) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di pikin in divɛlɔpmɛnt. I nɔ de afɛkt ɔl pikin dɛn di sem we.
- di men tin dεm na fכ big pas aw i nכmal, in tכng big, in bεlε in wכl prכblεm, εn wan say na di bכdi de big.
- Pikin dɛn we gɛt BWS kin gɛt smɔl risk fɔ gɛt sɔm kayn kansa we dɛn smɔl, bɔt we dɛn de chɛk dɛn ɔltɛm, dɛn kin no dɛn kwik ɛn mɛn dɛn ɔl.
- Pan ɔl we no mɛrɛsin nɔ de fɔ dis sik fɔ ɔltɛm, tritmɛnt dɛn de we rili fayn fɔ di prɔblɛm dɛn we kin kam.
- If dɛn gɛt di rayt mɛrɛsin ɛn dɛn de kia fɔ dɛn, bɔku pan di pikin dɛn we gɛt BWS kin liv nɔmal, wɛlbɔdi, ɛn ful layf. I rili impɔtant fɔ wok togɛda wit yu dɔktɔ.
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