As mama ɔ papa, sɔntɛm yu kin tink ɔltɛm bɔt di wɛlbɔdi ɛn di divɛlɔpmɛnt we yu smɔl pikin gɛt. Sɔntɛnde, wi kin kam wit tin dɛn we nɔ kin apin so ɔltɛm we wi nɔ kin yɛri bɔku bɔt. wan pan dεn kayn jεnεtik kכndyushכn dεm ya we nכ kin apin bכt imכtant na di Cornelia de Lange Syndrome, כ `(CdLS)` fכ sכt. Bifo wi fred bɔt dis, lɛ wi tɔk bɔt am simpul ɛn klia wan ɛn ɔndastand wetin i bi.
Wetin rili na di sik we dɛn kɔl Kɔnɛlia de Lan in sik (CdLS)?
fכ sכmtεm, `(CdLS)` na wan jεnεtik kכndishכn we rili rεs we de de we dεn bכn am. I kin afɛkt sɔm pat dɛn na di pikin in bɔdi. fכ bi prεsis, i de kכz fכ chenj (mכtεshכn) insay sεvεra jin dεm we de rilet to di divεlכpmεnt fכ wi bכdi.
Wi kin si dis kכndyushכn pan tu men fכm dεm. Wan na di mild fɔm , ɛn di ɔda wan na di klas fɔm . Bɔrku tɛm, we wi de tɔk bɔt dis sik, wi kin tɔk bɔt di klas fɔm. Bɔt pikin dɛn we gɛt di kayn we aw i nɔ de fil kin sho dɛn sem kayn sik ya bak, bɔt na smɔl tin.
di pikin dεm we gεt CdLS kin bכn sכm sכm wet εn saiz. Di say we dɛn ed de rawnd kin smɔl bak pas di wan we nɔmal pikin gɛt. We wi de tɔk bɔt mɛrɛsin, dɛn kɔl dis maykrosɛfali . Apat frɔm dɛn chenj ya we kin apin na wi bɔdi, sɔm prɔblɛm dɛn kin de we kin mek pɔsin in maynd ɛn aw i de biev. Sɔm pikin dɛn kin gɛt delay fɔ tɔk bak.
Wetin na di sayn dɛm fɔ dis sik?
yu kin si di simptom dεm fכ `CdLS` bifo כ afta dεn bכn di pikin. Sɔm tin dɛn de we kin apin we pikin dɛn we gɛt dis sik de luk. Dɛn kin si bak prɔblɛm wit di dijestiv sistɛm ɛn intɛlektual divɛlɔpmɛnt. Lɛ wi luk dɛn tin ya na wan tebul.
| Tayp we gɛt kwaliti dɛn | Tin dɛn fɔ si |
|---|---|
| Di men kwaliti dɛn we pɔsin kin gɛt na in bɔdi | |
| Hed ɛn fes | - Smɔl pas di nɔmal ed (Maykrosɛfali) . - Lɔng aylash dɛn - Midul-pat, tin ɔ tik aylash - Lɔwa di ialayn - Nɔs we dɔn tɔn ɔp, we shɔt - Di lip dɛn we dɔn tɔn dɔŋ, we tan lɛk tin - Tit ɛn yay we de fa frɔm dɛnsɛf |
| Ɔda pat dɛn na di bɔdi | - Di bɔdi ia we de gro pasmak - Prɔblɛm wit di divɛlɔpmɛnt pan di an ɛn leg - Di at we nɔ fayn - Klɛft palata - Kryptorchidism (testikul dεm we nכ de dכn insay bכy pikin dεm) . |
| Prɔblɛm dɛn we kin apin na di bɛlɛ | |
| Prɔblɛm dɛn we kin apin | - Banbɛlɛ - Rɔnbɛlɛ - Fɔ vɔmit - Fɔ ful-ɔp di bɛlɛ - Wan wan tɛm, yu nɔ kin want fɔ it - Bɛlɛ asid riflɔks (GERD) . |
| Prɔblɛm dɛn we gɛt fɔ du wit in maynd ɛn aw pɔsin de biev | |
| Di we aw pɔsin de biev ɛn di we aw i de divɛlɔp | - Divεlכpmεnt we de dilay - Disabiliti fɔ lan - Prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de biev - Atɛnshɔn Dɛfisit Haypa Aktiviti Disɔda (ADHD) . - Wɔri - Ɔtizm kɔndishɔn dɛn `(Autism)` |
Apat frɔm dat, sɔm pikin dɛn kin gɛt prɔblɛm bak fɔ yɛri ɛn si (fɔ ɛgzampul, mayopia).
Wetin kin mek dis apin? Yu tink se na frɔm dɛn gret gret granpa dɛn?
CdLS na wan sik wae kin afɛkt ɛnibɔdi, ilɛksɛf na in kɔlɔ ɔr man ɔ uman. Bɔrku tɛm, na bikɔs ɔf wan chenj na in jɛnɛtiks we kin apin fɔ insɛf ɛn dɛn nɔr dɔn ɛva si am na famili bifo.
so fa, dεn dכn no lεk 7 jin dεm we de mek di kכndishכn `CdLS`. Pikin we gɛt dis sik kin gɛt chenj na wan ɔ mɔ pan dɛn jin ya. Di kayn sik ɛn aw i siriɔs dipen pan us jin di jɛnɛtik chenj de apin insay ɛn aw. fכ egzampl, pikin dεm we gεt chenj na di jin `(NIPBL)` kin gεt mכr siriכs simptom dεm.
di impɔtant tin na dat if wan pikin na di famili gɛt `CdLS`, di chans fɔ mek di nɛks pikin gɛt am rili smɔl (lɛk 1-2%).
Bɔt, insay rare kes dɛm, if wan mama ɔ papa gɛt di kɔndishɔn `CdLS`, 50% chans de fɔ mek di pikin gɛt am. dis dεn kכl am `(Autosomal dominant)` inhεrit.
Aw fɔ no di sik?
If yu tink se yu pikin gɛt dɛn sik ya, di fɔs tin we yu fɔ du na fɔ go to dɔktɔ we de mɛn pikin dɛn .
Di dɔktɔ go fɔs du gud gud ɛgzam fɔ di pikin ɛn aks yu bɔt yu pikin ɛn in famili in mɛdikal istri. Dɛn go spɛshal wan luk fɔ di sayn ɛn simptom dɛm na dɛn bɔdi we gɛt fɔ du wit CdLS.
Dɔn, dɛn kin se dɛn fɔ du di jenɛtik tɛst fɔ no if pɔsin gɛt di sik. dis kin mεntal luk fכ chenj dεm na dεn jin dεm ya:
- `NIPBL`
- `SMC1A`
- `RAD21`
- `SMC3`
- `HDAC8`
we uman bεlε, we dεn du כltra saund skan bitwin 18-20 wik, sכmtεm dεn kin no if di pikin in fes כ in limb dεm nכ de nכmal tin. Dis kin gi sɔm klyu bɔt CdLS.
Aw dɛn kin trit am?
I impɔtant fɔ no dis: Nɔ patikyula tritmɛnt nɔ de we go ebul fɔ mɛn CdLS ɔltogɛda. Bɔt dat nɔ min se natin nɔ de we wi go ebul fɔ du. Di men gol fɔ tritmɛnt na fɔ kɔntrol di pikin in sik ɛn ɛp am fɔ liv wɛl ɛn gladi layf as i pɔsibul.
Wan dɔktɔ nɔ go du fɔ dis. Wan tim we gɛt spɛshal pipul dɛn ɛn tritmɛnt pipul dɛn we kɔmɔt na difrɛn say dɛn kin kam togɛda fɔ mek di bɛst tritmɛnt plan fɔ di pikin. Dis tim kin gɛt pipul dɛn lɛk:
- Di dɔktɔ dɛn we de mɛn pikin dɛn
- Kadiɔlɔjis dɛm - fɔ at dizayd
- Fyzikal thεrapist dεm - fכ mek di bכdi muv fayn εn fכ mek di mכsul dεm strכng
- Spich pathologists - fɔ tɔk ɛn kɔmyunikeshɔn prɔblɛm
- Gastroenterologists - fɔ bɛlɛ prɔblɛm
- Ay spɛshal pipul dɛn ɛn ENT ɔspitul dɔktɔ dɛn
Sɔntɛnde, dɛn kin nid fɔ du ɔpreshɔn fɔ mek di palata we dɔn skata ɔ di at we nɔ fayn. Dɛn kin gi mɛrɛsin bak fɔ prɔblɛm dɛn lɛk asid na di bɛlɛ. Na di dɔktɔ dɛn we de chɛk yu pikin kin disayd ɔl dɛn tin ya.
Wetin yu go se bɔt tumara bambay?
Sɔntɛm yu go fil fri we yu yɛri dis. Mɔs pikin dɛn we gɛt `CdLS` de liv nɔmal layf span. Bɔt bikɔs dɛn gɛt sɔm lɛvul pan intɛlektual disabiliti, dɛn go nid sɔm sɔpɔt ɛn supavayshɔn ɔlsay na dɛn layf, ivin te dɛn big. Dis min se fɔ gi dɛn say we sef fɔ liv ɛn wok, pan ɔl we dɛn de gi dɛn sɔm indipɛndɛns.
Bɔt, sɔm tɛm dɛn kin apin, sɔm prɔblɛm dɛn kin mek pɔsin nɔ liv lɔng. Na mɔtalman nyumonia we kin kam bak, we dɛn bɔn am wit at prɔblɛm, ɛn siriɔs prɔblɛm dɛn we kin apin to pɔsin we de digest, kin de pan denja if dɛn nɔ no di sik ɛn trit am fayn.
So, di tin we impɔtant pas ɔl na fɔ kip yu pikin ɔnda di rayt advays ɛn kia fɔ yu. If yu du dat, yu pikin go gɛt gud chans fɔ liv lɔng layf ɛn gladi at.
Mɛsej we dɛn kin kɛr go na os
- Cornelia de Lange Syndrome (CdLS) na wan sik we nɔ kin apin so ɔltɛm we dɛn bɔn am.
- Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɛn ɔda wan kin gɛt siriɔs sayn dɛm.
- Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis, fɔ kɔntrol di sik dɛn kin ɛp di pikin fɔ liv bɛtɛ layf.
- Di sɔpɔt we wan tim we gɛt spɛshal dɔktɔ ɛn tritmɛnt pipul dɛn de gi impɔtant fɔ dis.
- If yu gɛt ɛni dawt bɔt yu pikin, nɔ de te ɛn go to dɔktɔ we de mɛn pikin dɛn. If dɛn kia ɛn lɛk dɛn pikin ya di rayt we, dɛn kin ebul fɔ liv gladi at bak.
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