Yu dɔn ɛva notis sɔntin we strenj na yu smɔl pikin in fes? Sɔntɛm in yay dɛn de fa smɔl, ɔ in nɛk shɔt smɔl... If i tan lɛk se yu pikin de gro slo smɔl wit dɛn tin ya, di rizin kin bi wan kɔndishɔn we yu nɔ ɛva yɛri bɔt we dɛn kɔl ‘Noonan Syndrome.’ Nɔ wɔri, dis nɔto sɔntin we bɔku pipul dɛn no bɔt. So lɛ wi tɔk bɔt am jɔs tide.
Wetin rili na Noonan Syndrome?
Fɔ tɔk am simpul wan, Noonan syndrome na wan jenɛtik kɔndishɔn we dɛn bɔn pikin wit. dis kin afekt di divεlכpmεnt fכ difrεn pat dεm na di pikin in bכdi. Sɔm pikin dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak bikɔs ɔf dis sik. Dat min se, dɛn nɔ de notis dɛn na do. Bɔt sɔm pikin dɛn kin gɛt mɔ siriɔs wɛlbɔdi prɔblɛm .
pan dis kכndyushכn, di pikin kin gεt spεshal fes fכm dεm (fכ egzampl, in fכs brayt, in yay dεm we de fכm big big spεshal), sכt ayt (sכt ayt), in yay prכblεm, εn in at we dεn bכn am.
Di impɔtant tin na dat, pan ɔl we no patikyula mɛrɛsin nɔ de fɔ Noonan syndrome, bɔku fayn tritmɛnt ɛn gaydlayn dɛn de we go ɛp yu pikin fɔ gɛt wɛlbɔdi. Yu dɔktɔ go ɛksplen ɔl wetin yu ɛn yu pikin nid fɔ no.
Udat kin gɛt dis sik? Aw i kɔmɔn?
Noonan syndrome na wan sik wae kin apun wae dɛn bɔn ɛnibɔdi. Nɔto ɛnibɔdi in fɔlt.
- Inhɛritɛshɔn frɔm mama ɛn papa: Na lɛk 50% pan di pikin dɛm wae gɛt Noonan sindrom gɛt mama ɔ papa wae gɛt dis sik. Dis min se if ɛni wan pan di mama ɛn papa gɛt di sik, di pikin gɛt 50% chans fɔ gɛt am bak.
- Random occurrence: sכmtεm, dis kכndyushכn kin apin bak bikoz fכ wan random chenj (spontaneous mutation) na di pikin in jin dεm, we nכ wan pan di famili gεt di kכndyushכn.
Dis nɔto tin we nɔ kin apin so ɔltɛm lɛk aw yu go tink. Na avrej, wan pan ɛvri 1,000 to 2,500 pikin dɛn we dɛn bɔn kin gɛt dis sik.
Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Noonan syndrome?
Spɛshal jin dɛn de we de tɛl wi bɔdi in tisu dɛn fɔ gro ɛn sheb. di Noonan sεndrכm kin kכz fכ chenj (`mכtεshכn`) na dεn jin dεm ya. Bikɔs ɔf dis chenj, di prɔtin dɛn we dɛn jin dɛn de mek kin de wok fɔ lɔng tɛm pas aw dɛn fɔ wok. I tan lɛk layt we de kɔntinyu fɔ shayn instead fɔ ɔf we i fɔ ɔf. dis de ambɔg di nכmal growth εn divεlכpmεnt fכ di sεl dεm.
Ɔda tin dɛn de we fiba dis?
Yes, Noonan syndrome na wan kכndyushכn wae de pan wan grup כf sik dεm we dεn kכl `RASopathies`. Ɔda sik dɛn we de na dis grup kin gɛt di sem kayn tin dɛn we kin mek dɛn gɛt jɛnɛtiks. So, bɔrku tɛm, de sayn dɛm wae dɛn kin gɛt kin fiba dɛnsɛf.
Na sɔm kayn tin dɛn ya we kin apin:
- ``Kardiofasiokutan sindrom''.
- `Kɔstɛlɔ sindrom`
- ``Nyurofibromatosis tayp 1 (NF1)''.
- `Lɛjiɔs sindrom`
- `Turner sindrom`
Wetin na di sayn dɛm wae de sho se yu gɛt Noonan syndrome?
Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm pikin dɛn kin gɛt sɔm kayn sik dɛn we nɔ kin izi fɔ dɛn, ɛn ɔda wan dɛn kin gɛt siriɔs sik dɛn we kin mek dɛn layf de pan denja. Bɔku sayn dɛn kin bigin na di bɛlɛ ɔ i kin apin bifo i ol 11 ia.
Bɔt di gud tin na dat as di pikin de gro, bɔku pan di difrɛn tin dɛn we de na in fes kin dɔn smɔl smɔl.
Fɔ mek i izi fɔ ɔndastand, lɛ wi sheb dɛn kwaliti dɛn ya to sɔm tebul dɛn.
| Di tin dɛn we pɔsin kin si na in fes | |
|---|---|
| Fɔed | Di say we wan ay ay ɛn brayt fɔrɛst de. |
| Yay | di spεs bitwin di yay dεm de wayd, di yay dεm de slan dכn, di aylid dεm de dכp (ptosis) , strabismus , layt blu כ grεn yay dεm. |
| Nos | Wan flat nos ɛn wayd nos. |
| Yes | Iya dεm we de dכn nכmal lεvεl. |
| Di lip we de ɔp | Wan dip dimp na di midul pan di ɔpa lip. |
| Ɔda kɔmɔn sayn dɛm wae yu kin si na di bɔdi | |
|---|---|
| Nɛk | sכt nεk, wit εkstra fold dεm fכ di skin (webbing) na di tu say dεm na di nεk. |
| Ayt | Short ayt. |
| Chɛst | Chɛst we dɔn sink (pectus excavatum) ɔ chɛst we de kɔmɔt na do (pectus carinatum) . |
| Finga ɛn nel dɛn | Di finga ɛn fut finga dɛn we dɔn swel, di nel dɛn we nɔ shep ɔ we nɔ gɛt kɔlɔ. |
Prɔblɛm dɛn we gɛt fɔ du wit at
Bɔrku pikin dɛm wae gɛt Noonan syndrome kin gɛt hat sik wae dɛn bɔn wit. Sɔm pikin dɛn kin nid fɔ gɛt tritmɛnt wantɛm wantɛm . Sɔm pikin dɛn kin gɛt at sik bak we dɛn dɔn big. Di tin dɛn we kin apin to pɔsin in at na:
- wan ol bitwin di atria dεm na di at (atrial septal defect).
- di at mכsul de tik (Hypertrophic cardiomyopathy).
- Pulmonari atεri stεnosis .
Ɔda prɔblɛm dɛn we kin apin we pɔsin gɛt wɛlbɔdi
- difεlεns fכ brith: fכ egzampl, kכndishכn dεm lεk `laryngomalacia`.
- di an εn fut dεm we de swεla: Fluid we de bכku (lymphedema) bikoz fכ prכblεm wit di limfatik sistεm.
- Divɛlɔpmɛnt dilɛys dɛn .
- I izi fɔ mek yu blɔd ɔ brus .
- I nɔ kin izi fɔ gi pikin in bɛlɛ we i smɔl.
- Testikul dɛn we nɔ de dɔŋ na bɔy pikin dɛn . If dɛn nɔ trit dis, i kin mek i nɔ ebul fɔ bɔn pikin tumara bambay.
- Skɔliosis we dɛn kɔl .
- I nɔ ebul fɔ si ɔ yɛri fayn.
- Difεkt dεm we dεn bכn we gɛt fɔ du wit di kidni dεm.
Us ɔda prɔblɛm dɛn kin kam wit dis?
Bɔrku pikin dɛm wae gɛt Noonan syndrome kin divɛlɔp sloslo pas aw dɛn kin du, mɔr lɛk wae dɛn de yɔŋ. Dɔn bak, lɛk 25% pan di pikin dɛn kin gɛt prɔblɛm fɔ lan. Bɔt na smɔl pipul dɛn nɔmɔ gɛt prɔblɛm wit dɛn maynd. Dis min se bɔku pikin dɛn kin lan nɔmal wan. Na lɛk 10-15% pan di pikin dɛn kin nid spɛshal ɛdyukeshɔn sɔpɔt.
Apat frɔm dat, sɔm pikin dɛn kin gɛt rili smɔl inkris risk fɔ gɛt wan rare childhood leukemia condition we dɛn kɔl `juvenile myelomonocytic leukemia (JMML)` ɔ ɔda pikin kansa. Bɔt nɔr wɔri, dis risk kin rili smɔl, na 4% we yu ol 20 ia.
Aw di dɔktɔ kin no bɔt dis? (Diagnosis) .
Yu dɔktɔ kin sɔprayz se yu gɛt Noonan syndrome afta i dɔn chɛk yu pikin in bɔdi ɛn aks bɔt yu sik dɛn. Fɔ kɔnfirm di diagnosis ɛn ruul ɔut ɔda sik, yu dɔktɔ kin ɔda fɔ du difrɛn tɛst.
Dɛn tɛst ya kin bi:
- Kɔmplit blɔd kɔnt (CBC) .
- X-ray na di chɛst
- CT skan we dɛn kin du
- wan `Echocardiogram' tεst we de chεk aw di at de wok
- wan `Electrocardiogram (EKG)` tεst we de chεk di ilektrikal aktiviti fכ di at.
- Tɛst dɛn we dɛn kin du fɔ tɛst dɛn jɛnɛtiks
- Ultrasound skan (`Ɔltrasaund`) .
Tritmɛnt de fɔ di sik we dɛn kɔl Noonan syndrome?
Nɔr mɛrɛsin nɔr de fɔ Noonan syndrome yet. Bɔt bɔku tritmɛnt dɛn de we go ɛp yu pikin fɔ kɔntrol di sik dɛn we i gɛt ɛn liv fayn layf .
Di mɛdikal tim we de trit yu pikin go mek wan tritmɛnt plan bay di sik dɛn we yu pikin gɛt ɛn aw i siriɔs. Di plan kin gɛt fɔ du wit:
- Di tin dɛn we pɔsin kin yuz fɔ ɛp pɔsin: Tin dɛn lɛk ayglas ɔ tin fɔ ɛp pɔsin fɔ yɛri.
- Bihayvya ɔ tɔk tɛrapi .
- Edukeshonal sɔpɔt: Fɔ gi spɛshal sɔpɔt to pipul dɛn we gɛt disabiliti fɔ lan.
- Mɛrɛsin: Na mɛrɛsin fɔ trit at prɔblɛm, kɔntrol blɔd, ɔ fɔ mek i gro sloslo.
- Grɔw ɔmon tɛrapi .
- Adjɔnt tritmɛnt dɛm: Tin dɛm lɛk kɔmpreshɔn tɛrapi fɔ limfadima (swɛlin).
Sɔntɛnde, yu dɔktɔ kin tɛl yu fɔ du ɔpreshɔn. Fɔ no di sik kwik kwik wan impɔtant fɔ mek dɛn ebul fɔ trit am fayn ɛn fɔ mek dɛn fala am.
Aw tumara bambay go tan lɛk? Ɛn yu tink se dɛn go ebul fɔ stɔp dis?
Dis na di tin we impɔtant pas ɔl. Bɔrku pipul dɛm wae gɛt Noonan syndrome de liv wɛl bɔdi, indipɛndɛnt layf. Yu pikin in mɛdikal tim go ɛp yu fɔ kɔntrol di sik dɛn we yu pikin gɛt ɛn fɔ mek yu nɔ gɛt prɔblɛm dɛn.
Bikɔs dis sik kin kam bikɔs ɔf wan chenj na in jɛnɛtiks, natin nɔ de we wi go du fɔ mek i nɔ apin. Bɔt if pɔsin na yu famili gɛt Noonan syndrome, yu kin tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jenɛtik bifo yu bɔn.
Na nɔmal tin fɔ fil fɔ fred we pikin gɛt diagnosis lɛk dis. Bɔt mɛmba se bɔku pikin dɛn we gɛt Noonan sindrom kin gɛt smɔl smɔl sayn dɛn. Dɛn kin liv ful, aktif layf. So tɔk to yu dɔktɔ bɔt di tritmɛnt we go fayn fɔ yu pikin. If yu bigin tritmɛnt kwik, dat kin ɛp yu pikin fɔ gɛt di bɛst wɛlbɔdi.
Mɛsej we dɛn kin kɛr go na os
- Noonan syndrome na wan sik wae de kam wit jεnεtiks. Nɔto ɛni fɔlt we di mama ɛn papa gɛt.
- Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm kin gɛt sɔm kayn sik wae nɔr kin pasmak, bɔt ɔda wan dɛn kin nid fɔ pe atɛnshɔn mɔr.
- I rili impɔtant fɔ no di sik kwik kwik wan ɛn wok wit wan mɛdikal tim we gɛt difrɛn spɛshal pipul dɛn.
- Pan ɔl we nɔr patikyula mɛrɛsin nɔr de fɔ dis sik, bɔrku tritmɛnt de wae kin ɛp fɔ kɔntrol de sik fayn fayn wan.
- Di impɔtant tin na dat, if di dɔktɔ de kia fɔ dɛn ɛn kia fɔ dɛn fayn fayn wan, bɔku pan di pikin dɛn we gɛt Noonan syndrome kin liv ful, aktif, ɛn wɛlbɔdi layf.
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