Yu smɔl pikin rili lɛk fɔ spɛn tɛm wit ɔda pipul dɛn? Yu tink se i kin smayl ɛn tɔk to ɔlman we i mit, ɛn i kin mek i sɔprayz? Sɔntɛm yu dɔn notis se in fes spɛshal smɔl, difrɛn frɔm ɔda pikin dɛn. If, wit dɛn tin ya, smɔl divɛlɔpmɛnt delay ɛn at prɔblɛm de bak na di pikin, wi de tɔk bɔt wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we kin bi di kɔz. Nɔ fred afta yu dɔn rid dis. Dis infɔmeshɔn go ɛp yu fɔ ɔndastand dis gud gud wan.
Wetin na di sik we dɛn kɔl Williams Syndrome?
Fɔ tɔk am simpul wan, di sik we dɛn kɔl Williams Syndrome (WS) na wan sik we nɔ kin apin so ɔltɛm . Na wan rili smɔl chenj we de apin na wi jin dɛn kin mek i apin. Pikin we gɛt dis sik kin gɛt prɔblɛm wit difrɛn pat dɛn na in bɔdi, mɔ di ɔgan dɛn lɛk blɔd vesel, at ɛn kidni. Dɛn gɛt bak spɛshal fes, dɛn nɔ kin ebul fɔ lan ɛn dɛn gɛt difrɛn kayn pɔsin we dɛn bi.
Di impɔtant tin na dat, pan ɔl we dɛn nɔ gɛt kɔmplit mɛrɛsin fɔ dis, if dɛn tek di rayt mɛrɛsin ɛn sɔpɔt, dɛn kin kɔntrol di pikin in sik dɛn ɛn dɛn kin ɛp am bad bad wan fɔ win di prɔblɛm dɛn we i kin gɛt ɛvride.
Di difrɛns bitwin Daun Sindrom ɛn Wiliamz Sindrom
Dɛn tu tin ya na tin dɛn we pɔsin kin gɛt frɔm in jɛnɛtiks. Dɛn tu kin mek prɔblɛm wit di at ɛn di nervɔs sistɛm. Bɔt di tin dɛn we de mek dɛn tu tin ya difrɛn. Daun sindrom kin kam bikɔs ɔf wan ɛkstra kɔpi fɔ sɔntin we dɛn kɔl kromozom na wi bɔdi in sɛl dɛn. Wiliamz sindrom kin kam bikɔs wan smɔl pat pan wan kromozom lɔs .
Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Williams syndrome?
Tink bɔt wi bɔdi as big buk we de tich wi. Dɛn kɔl di pej dɛn na dis buk kromozom. 46 dɛn kayn pej dɛn de (23 pe) insay ɛni wan pan wi sɛl dɛn. Na di sɛvin pej na dis buk (Kromozom 7) dɛn rayt bɔku pan di tin dɛn we wi fɔ du fɔ bil wi bɔdi.
Dɛn kin bɔn pikin we gɛt Wiliamz sindrom we nɔ gɛt smɔl pat na dis sɛvin pej, we gɛt lɛk 25 ɔ 27 jin dɛn. I tan lɛk se dɛn dɔn kɔt wan smɔl pej na instrɔkshɔn buk. di sayn dεm we di pikin de sho dipכnt pan uswan pan dεn jin dεm we nכ de. fכ egzampl, if di jin we dεn kכl `ELN` nכ de, i kin mek prכblεm wit di at εn bכdi vεsul dεm.
Dis nɔto di mama ɔ papa in fɔlt. bכku tεm, i kin kכz fכ wan random chenj na di divεlכpmεnt fכ wan sεl כ eg. Dat min se, i kin bi random wan . Na smɔl tɛm nɔmɔ, if wan pan di mama ɛn papa gɛt dis sik, di pikin kin gɛt am bak.
Aw kɔmɔn tin dis?
Dis na tin we nɔ kin apin so ɔltɛm. Bɔrku tɛm, i kin afɛkt lɛk wan pan ɛvri 7,500 to 10,000 pipul dɛm.
Wetin na dɛn sayn ya?
Nɔto ɔl pikin dɛn we gɛt di sik we dɛn kɔl Williams syndrome na di sem. Sɔm kin gɛt sɔm sayn dɛn, ɛn ɔda wan dɛn kin gɛt bɔku. Ɛn aw dɛn kin tranga kin difrɛn. Lɛ wi tek wan luk pan di men sayn dɛm.
| Tayp we gɛt kwaliti dɛn | Tin dɛn fɔ si |
|---|---|
| Speshal tin dɛn we pɔsin kin si na in fes | Wan brayt fɔrɛst, wan shɔt nos we tɔn ɔp, wan wayd mɔt wit ful lip, wan smɔl chin, wan wrinkles na di kɔna dɛn na di yay, ɛn wan wayt sta bɔrst patɛn rawnd di wayt dɛn na di yay. Sɔm pikin dɛn kin gɛt smɔl tit, gap bitwin dɛn tit, ɔ dɛn tit kin kruk. |
| Speshal pɔsin we i bi | Fɔ bi pɔsin we rili lɛk fɔ spɛn tɛm wit ɔda pipul dɛn ɛn fɔ tɔk to ɔda pipul dɛn, fɔ de mek padi wit ɔda pipul dɛn pasmak ivin to strenja dɛn, fɔ ɔndastand aw ɔda pipul dɛn de fil fayn fayn wan (empathy), fɔ wɔri pasmak ɛn fɔ fred difrɛn tin dɛn (phobias), i nɔ kin izi fɔ kɔntrol di filin dɛn. ADHD na kɔmɔn tin bak. |
| Divɛlɔpmɛnt dilɛys | di wet we dεn bכn we dεn bכn lכw, i at fכ gi pikin bεlε, i de delay fכ gεt di wet εn gro. Dilay fɔ sidɔm, waka, ɛn ɔda tin dɛn Difrɛns wit fayn fayn motoka aktiviti dɛm lɛk fɔ ol pen. |
| Prɔblɛm dɛn we de na di at ɛn di blɔd vesel dɛn | di kכndishכn dεm lεk we di men at (aorta) we de kכri bכdi frכm di at to di bכdi sכmtεm (Supravalvular aortic stenosis - SVAS), di at we de kכri bכdi to di lכng (pulmonary stenosis), hεy bכdi prεshכn, εn di at bit we nכ de bit (arrhythmia) na kכmכn. Dis na di fɔs sayn dɛm wae dɛn kin no bɔt. |
| Ɔda wɛlbɔdi prɔblɛm dɛn | Di blɔd kalsiɔm lɛvɛl we de go ɔp, yu yes kin gɛt infɛkshɔn bɔku tɛm, skɔliosis, kidni prɔblɛm, jɔyn ɛn bon prɔblɛm, yu de ala lawd lawd wan, ɛn yu kin bigin fɔ bɔn pikin kwik kwik wan. |
Difrɛns dɛn we pɔsin kin lan
Na lɛk 75% pan di pikin dɛm wae gɛt Williams syndrome kin gɛt smɔl smɔl intɛlektual disabiliti. Dis kin mek i nɔ izi fɔ lan. Bɔt dɛn pikin ya kin mɛmba wɔndaful tin dɛn . Dɛn kin sabi tɔk ɛn tɔk bak, dɛn kin sabi fɔ rid, ɛn mɔ dɛn kin sabi fɔ ple myuzik .
Aw dɛn kin du di diagnosis?
Yu dɔktɔ go fɔs chɛk yu pikin, aks am bɔt in famili mɛdikal istri, ɛn pe atɛnshɔn to ɛni spɛshal tin we de na in fes.
If dɛn tink se di sik we dɛn kɔl Williams syndrome, dɛn kin tɛl dɛn fɔ du blɔd tɛst fɔ no if i gɛt dis sik. Tu men we dɛn de fɔ du dis:
1. FISH tεst (Fluorescence in situ hybridization): Dis tεst de luk dεn wan dεn wan fכ di jin we nכ de `ELN` na kromozom 7. כl di pipul dεm we gεt Williams sεndrכm nכ gεt dis jin.
2. Kromozom maykroεri: Dis na mכr mכdan εn we dεn kin yus tεst. i de luk כl di pikin in kromozom dεm εn si if eni pat pan di DNA nכ de. I kin sho bak us jin dɛn we nɔ de, ɛn dis kin mek di dɔktɔ no bɛtɛ bɔt di sayn dɛn we di pikin kin gɛt.
Apat frɔm dat, dɛn kin ɔda fɔ mek dɛn du ɔda tɛst fɔ no aw di pikin in bɔdi de insay.
- EKG ɔ Ultrasound skan tɛst fɔ si if yu gɛt at prɔblɛm.
- Ultrasound scan fɔ chɛk di kɔndishɔn fɔ di kidni ɛn blad.
- Fɔ chɛk di lɛvɛl we di kalsiɔm de na di blɔd ɔ di urine.
Aw dɛn kin trit am?
As wi bin dɔn tɔk, dis sik nɔ go ebul fɔ wɛl ɔl. Bɔt, tritmɛnt kin ɛp fɔ kɔntrol di sik ɛn ɛp di pikin fɔ liv gud layf. Dis nid fɔ mek difrɛn spɛshal pipul dɛn ɛp am.
- Cardiologist: Fɔ at prɔblɛm.
- Endocrinologist: Fɔ prɔblɛm dɛn we gɛt fɔ du wit ɔmon ɛn kalsiɔm lɛvɛl.
- Iya, Nos ɛn Trot Spɛshal (ENT Surgeon): Fɔ ia infɛkshɔn.
- Fizik thɛrapist: Fɔ mek di bɔdi muv fayn ɛn fɔ mek di mɔsul dɛn strɔng.
- Spich and language therapist: Fɔ mek yu sabi tɔk ɛn langwej bɛtɛ.
Di tritmɛnt kin inklud it we de mek di blɔd kalsiɔm nɔ bɔku, mɛrɛsin fɔ blɔd prɛshɔn, spɛshal ɛdyukeshɔn program, ɛn if nid de, ɔpreshɔn fɔ vaskul ɔ at. Na yu dɔktɔ de disayd ɔl dis .
Wetin yu go du as mama ɔ papa?
Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu pikin gɛt di sik we dɛn kɔl Williams syndrome. Bɔt dɛn tin ya go ɛp yu.
- Gi yu pikin bɔku lɔv: lɛ dɛn fɛn ɔltin na di wɔl akɔdin to wetin i ebul fɔ du ɛn aw i de rɔn.
- Kɔntakt yu pikin ɔltɛm wit dɔktɔ dɛn: Yu kin du dɔktɔ chɛk ɔltɛm fɔ wach yu pikin in wɛlbɔdi.
- Fɛn ɔda sɔpɔt na skul: Tɔk to di skul in ticha ɛn prinsipal bɔt spɛshal plan dɛn we yu nid fɔ mek yu pikin lan buk.
- Mek yu no bɔt dis: Lan ɔl wetin yu ebul bɔt dis tin so dat yu go ebul fɔ advatayz fɔ yu pikin fayn fayn wan.
- Kɔnekt wit ɔda pipul dɛn: Tɔk to ɔda mama ɛn papa dɛn we gɛt pikin dɛn lɛk dis. Aks yu dɔktɔ bɔt sɔpɔt grup dɛn.
- Tink bɔt yusɛf bak: Tek kia ɔf yu maynd ɛn bɔdi wɛlbɔdi we yu de kia fɔ yu pikin. If yu de fil taya, nɔ shek fɔ aks fɔ ɛp.
| Ustɛm fɔ go to dɔktɔ | |
|---|---|
| Si to dɔktɔ ɔltɛm. | Go na di ɔspitul in Imejɛnsi Tritmɛnt Yunit (ETU) wantɛm wantɛm. |
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If yu gɛt ɛni dawt ɔ fred bɔt yu pikin, nɔ ignore am. Yu sabi yu pikin pas ɔlman. So go to dɔktɔ wantɛm wantɛm.
Mɛsej we dɛn kin kɛr go na os
- Williams syndrome nɔto di mama ɔ papa fɔlt. Na wan chenj we kin apin na di jɛnɛtiks we nɔ kin apin wantɛm wantɛm.
- Pikin dɛm wae gɛt dis sik kin sho sɔm kayn tin dɛm lɛk difrɛn kayn fes, dɛn kin gɛt fayn fayn padi biznɛs wit dɛnsɛf, dɛn nɔ kin ebul fɔ lan, ɛn dɛn at kin gɛt prɔblɛm.
- Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, tritmɛnt dɛn de we rili fayn fɔ mɛn di sik dɛn.
- If spɛshal dɔktɔ dɛn, tritmɛnt pipul dɛn, ticha dɛn, ɛn mama ɛn papa dɛn lɛk ɛn sɔpɔt dɛn, dɛn pikin ya kin liv rili sakrifays ɛn gladi at.
- If yu gɛt ɛnitin fɔ wɔri bɔt yu pikin, nɔ ɛva ignore am ɛn tɔk to yu dɔktɔ wantɛm wantɛm.
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