Yu pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Noonan Syndrome

As mama ɔ papa, yu go mɔs bisin bɔt yu pikin in wɛlbɔdi ɛn di divɛlɔpmɛnt ɔltɛm. Sɔntɛnde, i nɔmal fɔ mek yu fred smɔl we yu si smɔl chenj dɛn na yu pikin in apia ɔ in divɛlɔpmɛnt prɔblɛm. Tide wi go tɔk bɔt wan impɔtant jenɛtik kɔndishɔn we dɛn kayn mama ɛn papa dɛn ya fɔ no bɔt. Dat na wan sik we dɛn kɔl Noonan Syndrome.

Wetin na Noonan Sindrom?

Fɔ tɔk am simpul wan, Noonan Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Na bikɔs di jin dɛn we de na wi bɔdi chenj. Dis sik kin afɛkt yu pikin difrɛn we dɛn. Dɛn kin bɔn sɔm pikin dɛn wit dis sik, bɔt di sayn dɛn kin rili smɔl . Dis min se dɛn kin liv nɔmal layf ɛn nɔ gɛt ɛni big prɔblɛm. Bɔt sɔm pikin dɛn kin gɛt mɔ prɔblɛm dɛn .

Insay dis kɔndishɔn, di pikin in fes kin gɛt sɔm difrɛn tin dɛn . Fɔ ɛgzampul, fɔrɛst we ay, in yay dɛn we big, yes dɛn we de dɔŋ, ɛn nɛk we shɔt. Dɔn bak, bɔku pikin dɛn we gɛt Noonan Syndrome kin shɔt fɔ dɛn ej, we min se dɛn kin tan lɛk se dɛn shɔt . Prɔblɛm na di yay, di mɔsul dɛn we nɔ de wok fayn, ɛn di at sik we pɔsin kin bɔn wit, na tin dɛn bak we kin apin.

Bɔt na di tin ya, no mɛrɛsin nɔ de fɔ Noonan Syndrome. Bɔt nɔ wɔri! Yu dɔktɔ kin gi yu di gayd we yu nid fɔ mek yu pikin gɛt wɛlbɔdi as yu ebul. Dɛn kin woke wit yu bak fɔ mek yu nɔr gɛt ɔr no bɔt de prɔblɛm wae kin kam wit de sik. Dɔn yu pikin go ebul fɔ liv ful layf .

Udat kin gɛt dis sik? Aw i kɔmɔn?

Noonan Syndrome na wan sik we kin apin we dɛn bɔn ɛnibɔdi . Wi nɔ go ebul fɔ tɔk udat go divɛlɔp am ɛn udat nɔ go divɛlɔp am. Bɔt, bay sɔm statystik, lɛk 50% pan di pipul dɛm wae gɛt Noonan Syndrome kin gɛt dis sik frɔm wan pan dɛn mama ɛn papa. Bɔrku tɛm, pɔrsin wae gɛt Noonan Syndrome kin gɛt 50% chans fɔ pas am to in pikin.

Noonan Syndrome na wan sik wae kin kam pan pɔrsin wae gɛt dis sik . Dat min se, i kin kɔmɔn smɔl pas sɔm ɔda kayn sik dɛn we nɔ kin apin so ɔltɛm. Fɔ tɔk smɔl, dɛn kin ripɔt se bitwin wan pan ɛvri 1,000 ɛn 2,500 pipul dɛn kin gɛt dis sik.

Wetin kin mek pɔsin gɛt Noonan Syndrome?

dis kכndyushכn kin kכz bכku pan di lεk we di εnzym dεm we de εp wi bכdi in tisu dεm fכ gro εn divεlכp.I kin kam bikɔs sɔm jin dɛn kin chenj (muteshɔn). spεshal wan, di protin dεm we dεn chenj jin dεm ya de mek de wok fכ lכng pas aw dεn fכ du. Dis kin mek di sɛl dɛn nɔ de gro ɛn sheb fayn fayn wan.

Tu we dɛn de we Noonan Syndrome kin apin:

• Inherited: Pikin kin gɛt dis sik frɔm wan pan in mama ɛn papa.
• Spontaneous mutation: Na kכndyushכn we kin apin bikoz fכ nyu jεnεtik chenj, we nכmכ na di famili nכ bin gεt dis kכndyushכn bifo.

di jεnεtik tεst we dεn de du naw kin no di jεnεtik abnכmaliti na lεk 80% pan di pipul dεm we gεt Noonan Syndrome. Bɔt, di wan dɛn we de du risach stil nɔ no di rayt tin we mek dis sik de pan di ɔda pipul dɛn we lɛf.

Ɔda tin dɛn de we fiba di sik we dɛn kɔl Noonan Syndrome?

Yes, Noonan Syndrome na wan sik wae de pan wan grup wae gɛt fɔ du wit dis sik wae dɛn kɔl RASopathies . Ɔl dɛn sik ya kin kam bikɔs ɔf tin dɛn we nɔ kin apin di sem we aw di sɛl dɛn kin gro ɛn divɛlɔp. So, di sayn dɛm wae dɛn kin gɛt kin rili fiba.

Sɔm ɔda sik dɛm we de insay di `RASopathies` kategori na:

• Sindrom we gɛt di sik we dɛn kɔl Cardiofaciocutaneous syndrome
• Kɔstɛl sindrom `(Kɔstɛlɔ sindrom)`
• Nyurofibromatosis tayp 1 (NF1) .
• Di sik we dɛn kɔl Legius syndrome
• Noonan sindrom wit mכltipכl lεntigin (dεn bin kכl am fכs LEOPARD sεndrכm) .
• Turner sindrom we gɛt di sik

Wetin na di sayn dɛm wae de sho se yu gɛt Noonan Syndrome?

De sayn dɛm fɔ Noonan Syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɛn ɔda wan dɛn kin gɛt siriɔs sayn wae kin mek pɔrsin in layf de pan denja. I dipen pan us pat pan di pikin in bɔdi de afɛkt. Bɔku pan di sayn dɛm kin bigin we di pikin de gro na di bɛlɛ, ɔ i kin apin bifo di pikin ol 11 ia .

Di tin dɛn we pɔsin kin si na in fes

Di fes we dɛn kin si pan pikin dɛn we gɛt Noonan Syndrome kin dɔn smɔl smɔl as di pikin dɔn big . Dat min se dɛn nɔ go gɛt bɛtɛ nem lɛk aw dɛn bin de fɔs. Dɛn tin ya kin bi:

• Fɔ gɛt ay fɔrɛst .
• Fɔ gɛt dip grov na di midul pan di ɔpa lip.
• Aylid we de drɔp (ptosis).
• Fɔ gɛt flat nos ɛn tip we tan lɛk bɔl.
• di ia lob dεm de posishכn lכw pas nכmal.
• Layt blu ɔ grɛn yay.
• Strabismus na wan sik we di distans bitwin di yay dεm de go כp εn di yay dεm de tilt dכn, sכmtεm dεn de tכn to wan an.

Ɔda tin dɛn we pɔsin kin du na in bɔdi

Apat frɔm di tin dɛn we pɔsin kin si na in fes, sɔm ɔda tin dɛn de we kin apin to pɔsin in bɔdi:

• Di finga dɛn ɔ di fut dɛn we de swel.
• Nɛl dɛn we gɛt shep ɔ kɔlɔ we nɔ kɔmɔn.
• sכt nεk εn lכw ialayn na di bak pat na di nεk, i kin bi wit wεb na di sayd dεm na di nεk.
• Shortness of stature (shɔt fɔ ayt fɔ di ej).
• Chɛst we dɔn sink (pectus excavatum) ɔ chɛst bon we de kɔmɔt na do (pectus carinatum).

At sik

Bɔku pikin dɛn we gɛt Noonan Syndrome kin gɛt at sik we dɛn bɔn wit . Sɔm pikin dɛn kin nid fɔ gɛt tritmɛnt kwik kwik wan fɔ dis at sik. Ɔda pipul dɛn nɔ kin gɛt dis sik te dɛn big. De hat sik wae kin pasmak na:

• Atrial septal difεkt.
• Hypertrophic kadyomayopati we pɔsin kin gɛt.
• Pulmonari atεri stεnosis.

Ɔda prɔblɛm dɛn we kin apin

Apat frɔm dis, Noonan Syndrome kin kam wit sɔm ɔda prɔblɛm dɛn:

• difεlεns fכ brith, fכ egzampl, bikoz di larynx sכft (laryngomalacia).
• Limfεdima (we di limf wata we de kכmכt na di an כ di leg dεm).
• Divɛlɔpmɛnt dilɛys dɛn .
• Blɔd pas aw i fɔ de ɔ brus izi wan.
• I nɔ kin izi fɔ it we i smɔl.
• Testikul dεm we nכ dכn dכn na bכy pikin dεm. If dɛn nɔ trit dis, dis kin afɛkt di prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin kin bɔn pikin.
• Skɔliosis we de mek pɔsin gɛt sik.
• Prɔblɛm fɔ si ɔ yu nɔ de yɛri fayn (we yu nɔ de yɛri fayn).
• Di prɔblɛm dɛn we kin apin we dɛn bɔn pikin we gɛt fɔ du wit di kidni.

Us ɔda kɔmplikeshɔn wae gɛt fɔ du wit Noonan Syndrome?

Bɔrku pikin dɛm wae gɛt Noonan Syndrome kin divɛlɔp sloslo pas aw dɛn kin gɛt as dɛn de rich yɔŋ pipul dɛm. Bɔt dɛn kin bɔn dɛn na nɔmal lɔng. Na lɛk 25% gɛt disabled fɔ lan. Smɔl nɔmba pan dɛn kin gɛt disabled intellectual disability bak. Bitwin 10% ɛn 15% pan di pikin dɛm wae gɛt Noonan Syndrome kin nid spɛshal ɛdyukeshɔn. Dis sik kin mek bak pɔrsin nɔr de divɛlɔp fayn, i kin gɛt prɔblɛm wit in bihayvya, ɔr nɔr kin ebul fɔ tɔk fayn.

Sɔm pikin dɛn we gɛt Noonan Syndrome kin gɛt juvenile myelomonocytic leukemia (JMML) , we na wan kayn lukimiya we nɔ kin apin we dɛn smɔl.Di risk fɔ gɛt bɔdi kansa ɔ ɔda kansa we pikin dɛn kin gɛt kin bɔku smɔl. Bɔt dɛn kin tink se di ɔl risk na lɛk 4% we i ol 20. So, mɛmba se na rili smɔl risk .

Aw dɛn kin no se pɔsin gɛt Noonan Syndrome?

Yu dɔktɔ kin sɔprayz se yu gɛt Noonan Syndrome afta dɛn dɔn chɛk yu pikin in bɔdi ɛn rivyu di sik dɛn we yu pikin gɛt. Fɔ mek yu no se yu gɛt di sik ɛn fɔ mek yu nɔ no ɔda sik dɛn, yu dɔktɔ kin tɛl yu fɔ du tɛst fɔ yu jɛnɛtiks .

Dɛn kin du sɔm ɔda tɛst dɛn fɔ dis:

• Kɔmplit blɔd kɔnt (CBC) tɛst.
• Wan ɛkstrem rayt na di chɛst.
• Wan CT skan we dɛn kin du.
• Echocardiogram na test we de chɛk aw di at de wok.
• Wan EKG tɛst (Ilektrokardiogram (EKG)).
• Wan ɔltra saund ɛgzam.

Yu tink se mɛrɛsin de fɔ Noonan Syndrome?

Nɔ, no mɛrɛsin nɔ de fɔ Noonan Syndrome. Bɔt nɔ wɔri! Sɔm tritmɛnt dɛn de we go ɛp yu ɛn yu pikin fɔ kɔntrol di sik dɛn.

Aw dɛn kin trit Noonan Syndrome?

Yu pikin in mɛdikal tim go mek wan tritmɛnt plan fɔ Noonan Syndrome bay aw yu pikin in sik ɛn aw i siriɔs. Yu pikin kin gɛt tritmɛnt dɛn lɛk:

• Di tin dɛn we pɔsin kin yuz fɔ ɛp pɔsin: lɛk glas ɔ tin fɔ ɛp pɔsin fɔ yɛri.
• Bihayvya ɔ tɔk tɛrapi .
• Edukeshonal sɔpɔt fɔ di wan dɛn we gɛt disabiliti fɔ lan.
• Mɛrɛsin fɔ di pikin in at sik , prɔblɛm wit blɔd, ɔ fɔ gro sloslo .
• Grɔw ɔmon tɛrapi.
• Adjɔnt tritmɛnt dɛm lɛk kɔmpreshɔn tɛrapi, we de gi rilif fɔ kɔndishɔn dɛm lɛk limfadima.

Sɔntɛnde, yu dɔktɔ kin tɛl yu fɔ du ɔpreshɔn . Mɛmba se fɔ no di sik kwik kwik wan rili impɔtant fɔ mek dɛn gɛt fayn tritmɛnt ɛn fɔ kia fɔ dɛn fɔ fala dɛn.

Udat dɛn kin de na mi pikin in Noonan Syndrome tritmɛnt tim?

Apat frɔm yu dɔktɔ we de mɛn pikin dɛn, di mɛdikal tim we de kia fɔ yu pikin in wɛlbɔdi kin gɛt spɛshal pipul dɛn lɛk:

• Vaskul mɛdisin spɛshal pɔsin.
• Dɔktɔ we spɛshal pan di nervous system (bren, spinal cord, ɛn nerves) (Neurologist).
• Wan dɔktɔ we de mɛn kansa.
• Wan dɔktɔ we de mɛn pipul dɛn we gɛt yay.
• Wan man we de stɔdi bɔt di jɛnɛtiks.
• Wan dɔktɔ we de mɛn pipul dɛn we gɛt at.
• Ɛndokrinɔlɔjis.
• Nefrɔlɔjis we de mɛn pipul dɛn.
• Dɛmatɔlɔjis (spɛshal pɔsin we sabi bɔt skin, ia, ɛn nel).

Di tim we de kia fɔ yu pikin go tɛl yu di tritmɛnt we go fayn fɔ yu pikin. Dɛn go wach yu pikin in kɔndishɔn bak ɛn mek ɛni ajɔstmɛnt we nid fɔ apin to di mɛrɛsin ɔ tritmɛnt we dɛn de gi am, i go dipen pan di pikin in kɔndishɔn ɛn ɛni sayd ɛfɛkt.

Ɛnitin de we a kin du fɔ ridyus mi pikin in risk fɔ gɛt Noonan Syndrome?

Nɔ, natin nɔ de we yu go du fɔ ridyus di risk fɔ mek yu pikin gɛt Noonan Syndrome. Na wan chenj we de apin na di jɛnɛtiks de mek i apin . Bɔt if pɔsin na yu famili gɛt Noonan Syndrome, yu kin tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks bifo yu bɔn, we dɛn kin du we yu gɛt bɛlɛ .

Wetin na di fiuja fɔ pipul dɛm wae gɛt Noonan Syndrome?

Bɔrku pipul dɛm wae gɛt Noonan Syndrome de liv wɛl bɔdi, indipɛndɛnt layf.

Di tim we de kia fɔ yu pikin go wok wit yu fɔ manej yu pikin in sik ɛn fɔ mek i nɔ gɛt prɔblɛm. So, i impɔtant fɔ mek wi kɔntinyu fɔ gɛt op.

Ustɛm yu fɔ go to dɔktɔ fɔ Noonan Syndrome?

If Noonan Syndrome de mek yu gɛt siriɔs at sik we yu bɔn wit , i kin nid fɔ du ɔpreshɔn ɛn kɔntinyu fɔ wach yu pikin fɔ mek yu pikin gɛt wɛlbɔdi ɛn sef. Yu dɔktɔ kin tɔk to yu bɔt aw fɔ trit yu kwik kwik wan ɛn fɔ lɔng tɛm.

Na nɔmal tin fɔ fil fɔ fred we pikin we dɛn jɔs bɔn ɔ we de gro gɛt mɛrɛsin. Bɔt bɔku pikin dɛn we dɛn kin no se gɛt Noonan Syndrome kin gɛt smɔl smɔl sayn dɛn . Ɛn dɛn kin go bifo fɔ liv ful, aktif layf. Tɔk to yu dɔktɔ bɔt di tritmɛnt dɛn we go wok fayn ɔ di we dɛn we yu go kɔntinyu fɔ kia fɔ yu pikin we go gri wit wetin yu pikin nid. If yu trit yu pikin kwik kwik wan, dat kin ɛp fɔ mek yu nɔ wɔri ɛn ɛp yu fɔ gɛt di bɛst wɛlbɔdi.

Lɛ wi mɛmba di tin dɛn we impɔtant pas ɔl (Take-Home Message)

Okay, so lɛ wi rikap di impɔtant pɔynt dɛn frɔm wetin wi dɔn tɔk bɔt:

• Noonan Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks .
• De sayn dɛm fɔ dis kin difrɛn , sɔm nɔr kin so, sɔm kin tranga smɔl.
• Yu kin si tin dɛn lɛk spɛshal fes, shɔt ayt, ɛn at sik.
• Pan ɔl we dɛn nɔ gɛt kɔmplit mɛrɛsin, sɔm tritmɛnt dɛn de we go ebul fɔ kɔntrol di sayn dɛn .
• I rili impɔtant fɔ no di sik ɛn bigin fɔ trit am kwik .
• Wan tim we gɛt spɛshal dɔktɔ dɛn go ɛp yu pikin.
• Bɔku pikin dɛn we gɛt Noonan Syndrome de liv gladi ɛn aktif layf .

So, if yu pikin gɛt dɛn sik ya, nɔ panik, go to dɔktɔ kwik kwik wan ɛn gɛt advays. Dɛn go gi yu ɔl di ɛp we yu nid.

` Noonan sεndrכm, jεnεtik sik dεm, jεnεtik hat sik, divεlכpmεnt dεlay, fεs fכm, pikin dεm hεlth, jεnεtik tεst