As mama ɔ papa, wi kin rili bisin bɔt ɛni smɔl tin bɔt wi pikin, nɔto so? Di we aw i de gro, aw i luk, aw i de biev... Wi de pe atɛnshɔn to ɔl dɛn tin ya. Sɔntɛnde, we wi si sɔm smɔl chenj dɛn na di we aw pikin de luk, fɔ ɛgzampul, in big tɔ we dɔn big smɔl, ɔ ivin smɔl smɔl we i de mek i gro, wi kin fred smɔl. Dɛn kayn tɛm ya, wi fɔ no bɔt wan sik we nɔ kin apin so ɔltɛm bɔt we impɔtant to wisɛf. Dat na di sik we dɛn kɔl Rubinstein-Taybi Syndrome.
Wetin na di sik we dɛn kɔl Rubinstein-Taybi Syndrome (RTS)?
Fɔ tɔk am simpul wan, Rubinstein-Taybi Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt sɔm sistɛm dɛn na di bɔdi. Dɛn kin shɔt am as RTS. di men sayn dεm we dεn kin si pan pikin dεm we gεt dis kכndyush כn na dεn big fut dεm εn big fut dεm we de wayd we dεn nכ de sכt , sכm difrεnt fכs dεm na dεn fes, εn we dεn de delay fכ divεlכpmεnt .
Dɛn bin fɔs tɔk bɔt dis sik insay 1957. Bɔt na insay 1963, tu dɔktɔ dɛn we nem Dɔktɔ Jɛk Rubinstayn ɛn Dɔktɔ Hooshang Taybi bin rili no se na sik. Dɛn kin yuz dɛn nem fɔ dis sik.
Wetin na di men sayn dɛm fɔ RTS?
Nɔto ɔl pikin we gɛt RTS go gɛt ɔl dɛn sik ya. Bɔt sɔm tin dɛn de we kin apin to pɔsin. Lɛ wi sheb dɛn tin ya to tu kategori dɛn we izi fɔ ɔndastand.
| Tayp we gɛt kwaliti dɛn | Tin dɛn fɔ si |
|---|---|
| Di Simptom dɛn we De Na di Yay | |
| Ay pozishɔn | di כta kכna dεm na di yay dεm de sכlכp dכn εn di distans bitwin di yay dεm de go כp. |
| Aylid na di aylid | Aylid we de drɔp (Ptosis) . |
| Aybrɔw | Aybrɔw dɛn we gɛt arch we rili ay. |
| Infεkshכn dεm | Frεkuεnt ay infεkshכn biכs fכ blכk di tεar dakt dεm. |
| Ɔda sayn dɛm fɔ di bɔdi (Non-Ocular Symptoms) . | |
| An ɛn fut | Di big fut ɛn fut finga dɛn kin wayd pas aw i kin bi ɛn sɔntɛnde dɛn kin bɛn. |
| Gro | Short stature bikos of di delay bon growth. |
| Hed ɛn fes | sכm sכm ed (Microcephaly) , di nos we lεk bich, brayt nos brij, di כp palata kכva כp, sכm lכw jaw. |
| Ɔda tin dɛn we de apin | I nɔ kin izi fɔ it, i kin gɛt infekshɔn na di say we i de blo ɔltɛm, i kin gɛt at, kidni, ɛn spaynal prɔblɛm, di ia kin gro pasmak, ɛn di tɛstikul dɛn we nɔ kin kam dɔŋ na bɔy pikin dɛn. |
Di chenj dɛn we pɔsin kin si pan di we aw pɔsin de gro ɛn di we aw i de biev
Apat frɔm di sik dɛn we dɛn kin gɛt na dɛn bɔdi, pikin dɛn we gɛt RTS kin gɛt sɔm tin dɛn we kin delay ɛn chenj dɛn divɛlɔpmɛnt ɛn aw dɛn kin biev.
Intɛlektual ɛn lanin delay
Pikin dɛm we gɛt RTS kin gɛt smɔl smɔl intɛlektual divɛlɔpmɛnt pas nɔmal pikin dɛm. Di kayn we aw dis kin delay kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm kin delay smɔl, ɛn ɔda wan dɛn kin delay mɔ. Sɔntɛm i nɔ kin izi fɔ dɛn fɔ tink gud wan, fɔ lan nyu tin dɛn, ɛn fɔ sɔlv prɔblɛm dɛn. Bɔku tɛm, dis kin apin we di pikin bigin fɔ go skul.
Dilɛys pan fyzikal ɛn motoka skil dɛm
Bɔku tɛm dɛn pikin ya nɔ kin gɛt bɛtɛ mɔsul dɛn . Dis kin mek yu delay fɔ du tin dɛn lɛk fɔ rɔl, sidɔm, ɛn waka. Dɛn kin gɛt prɔblɛm bak wit balans ɛn kɔntrol fɔ muv.
Dilɛys fɔ tɔk ɛn fɔ tɔk to pipul dɛn
כlmost 90% pan di pikin dεm we gεt RTS kin gεt bכku dilay fכ divεlכpmεnt fכ tכk. Wan pan di fɔs sayn dɛm fɔ dis kin bi se i nɔ izi fɔ it , bikɔs fɔ it ɛn tɔk nid fɔ mek di mɔsul dɛm na yu mɔt ɛn yu tɔng wok togɛda fayn fayn wan.
Mɛmba se nɔto ɔl dɛn delay ya kin apin to ɛni pikin. Dɔn bak, dɛn kin gɛt dɛn abiliti ya if dɛn gɛt di rayt tritmɛnt ɛn tritmɛnt.
Wetin na di rizin we mek dis kayn tin de apin?
We dɛn tɛl sɔm mama ɛn papa dɛn se dis na tin we dɛn kin gɛt frɔm dɛn bɔdi, dɛn kin fred se dis na sɔntin we dɛn gɛt frɔm dɛn mama ɛn papa.
i imכtant fכ כndastand se bכku tεm, dis kכndyushכn kin kכz fכ nyu jεnεtik mכtεshכn na di pikin in bכdi. Dis min se i nɔ gɛt frɔm di mama ɔ di papa. So, fɔ man ɛn in wɛf we gɛt wɛlbɔdi wit pikin we gɛt RTS, di risk fɔ mek dɛn nɛks pikin gɛt di sik nɔ rich 1%.
Bɔt i nɔ kin apin so ɔltɛm, if wan mama ɔ papa gɛt di RTS kɔndishɔn, 50% chans de fɔ mek di pikin gɛt di jin. dis kin kכz mεntal bay chenj dεm na di jin dεm CREBBP εn EP300 .
Aw fɔ no di RTS stetɔs?
Bɔku tɛm, dɔktɔ go no dis sik bay we i de chɛk di pikin in bɔdi, mɔ in fut finga dɛn we brayt, in yay dɛn we de slan dɔŋ, ɛn in ɔpa palata we rayz.
Fɔ kɔnfirm dis diagnosis, sɔm tɛm dɛn kin du ɔda tɛst dɛn.
- X-ray: Luk fɔ patikyula chenj dɛn na di bon dɛn na di an ɛn leg.
- Bren skan: Monitor di ilɛktrik aktiviti na di bren.
- Jεnεtik Tεst: dεn kin du dis tεst fכ kכnfכm if jεnεtik mכtεshכn dεm de we kכnεkt wit RTS. Bɔt sɔm pikin dɛn we gɛt RTS nɔ kin gɛt dis jɛnɛtik muteshɔn we dɛn kin no bay we dɛn de tɛst dɛn.
Sɔm pikin dɛn kin no se dɛn gɛt dis sik we dɛn bɔn dɛn. Ɔda wan dɛn kin no se dɛn gɛt dis sik smɔl leta. I dipen pan aw di sik kin tranga.
Wetin na di tritmɛnt dɛm fɔ dis?
Fɔs, no mɛrɛsin nɔ de fɔ RTS, bɔt dɛn kin ebul fɔ kɔntrol am ɛn di pikin kin liv fayn layf bay we i de divɛlɔp in abiliti ɛn manej in sik dɛn .
Dɛn kin no di tritmɛnt plan bay di pikin in sayn dɛm. Dis na tim fɔ tray fɔ du sɔntin.
Dat min se, nɔto jɔs wan dɔktɔ, .Di dɔktɔ dɛn we de mɛn pikin dɛn, dɔktɔ dɛn we de mɛn dɛn at, ɔtpidist, di wan dɛn we sabi bɔt yes, nos, ɛn trot, ɛn di wan dɛn we de mɛn pipul dɛn fɔ tɔk, kin wok togɛda fɔ plan di bɛst tritmɛnt fɔ di pikin.
Na sɔm pan di men we dɛn fɔ trit am:
- rεgulεr mכnitor: dεn de mכnitor di pikin in growth bay we dεn de yuz spεshal growth chכt dεm. Dɔn bak, dɛn kin chɛk dɛn yay ɛn yes ɛvri ia.
- Ɔpreshɔn: If di finga ɛn fut finga dɛn bɛn ɔ di ɔgan dɛn lɛk di at ɔ di kidni nɔ fayn, i kin nid fɔ du ɔpreshɔn fɔ kɔrɛkt dɛn.
- Di tritmɛnt dɛn: Dis rili impɔtant. Tin dɛm lɛk Spich Therapy, Physical Therapy, ɛn Behavioral Therapy rili impɔtant fɔ mek di pikin nɔ delay fɔ divɛlɔp.
- Spɛshal Ɛdyukeshɔn: Fɔ rifer pikin to spɛshal ɛdyukeshɔn program dɛn we dɛn mek fɔ di we aw i ebul fɔ lan, dat kin rili sɔpɔt in sɛns fɔ divɛlɔp.
- Jɛnɛtik Kɔnsɛl: Jɛnɛtik advays rili impɔtant fɔ mek famili dɛn ɔndastand klia wan bɔt di sik, di step dɛn we dɛn fɔ tek, ɛn di prɔblɛm dɛn we kin apin to pikin dɛn we go kam.
Di tin we impɔtant pas ɔl na fɔ mek yu, as mama ɔ papa, no gud gud wan bɔt yu pikin in kɔndishɔn ɛn fɔ wok klos wit di mɛdikal tim we de trit yu pikin.
Mɛsej we dɛn kin kɛr go na os
- Rubinstein-Taybi Syndrome (RTS) na wan sik we nɔ kin apin so ɔltɛm. Bɔku tɛm, nɔto di mama ɛn papa fɔlt kin mek i apin.
- di men kכntribyushכn dεm na dεn wayd pas nכmal big tכd dεm, difrεnt fכs fכ luk, εn divεlכpmεnt delay.
- Pan ɔl we dɛn nɔ go ebul fɔ mɛn am ɔl, tritmɛnt dɛn de we rili fayn fɔ mɛn di sik dɛn ɛn fɔ mek di pikin in layf bɛtɛ.
- Fɔ stat tritmɛnt lɛk tɔk tɛrapi ɛn fyzikal tritmɛnt kwik kwik wan rili impɔtant fɔ mek di pikin gro.
- If yu gɛt ɛni dawt bɔt dɛn sik ya na yu pikin, nɔ panik, bɔt tɔk to yu dɔktɔ ɔ pikin dɛn bɔt am.
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