Yu no bɔt dis sik we nɔ kin apin so ɔltɛm? Kardiofasiokutan Sindrom we pɔsin kin gɛt

Yu dɔn ɛva yɛri bɔt Cardiofaciocutaneous Syndrome, ɔ CFC Syndrome as wi kin kɔl am fɔ shɔt? Na wan sik wae nɔr kin bɔrku, wae min se nɔr to sik wae de ambɔg ɔlman. Bɔt i kin afɛkt sɔm pat dɛn na wi bɔdi. I kin mɔs afɛkt di at (cardio-), di fes (facio-), ɛn di skin ɛn ia (cutaneous). Nɔto dat nכmכ, bכt dis kכndyushכn kin mek pikin dεn delay fכ divεlכpmεnt εn intellektual divεlכpmεnt prכblεm na pikin dεm. So, lɛ wi tɔk bɔt am mɔ, nɔto so?

Wetin na di kayn sik we dɛn kɔl Cardiofaciocutaneous Syndrome (CFC Syndrome)?

Fɔ tɔk am simpul wan, dis na tin we pɔsin kin gɛt frɔm in jɛnɛtiks . Dat min se na chenj (myuteshכn) we de na wi jin dεm de kכz am. Dis na sik we de pan wan grup fɔ sik dɛn we dɛn kɔl `RASopathy`. `RASopathies` na grup fכ jεnεtik kכndishכn dεm we de kכz fכ wan difεkt na di `RAS path`, di we aw sεl dεm na wi bכdi de kכmכnik wit dεn wan dεm. Tink bɔt am lɛk aw di sɛl dɛn na wi bɔdi kin chenj smɔl smɔl mɛsej dɛn. If dis chenj we dɛn de chenj mɛsej nɔ apin fayn, difrɛn prɔblɛm dɛn kin kam.

As fɔ aw kɔmɔn CFC sindrom de, i rili nɔr kin apin . Sɔm ripɔt dɛn se dis sik kin afɛkt lɛk wan pan ɛvri 810,000 pikin dɛn. Di mɛdikal rɛkɔd dɛn jɔs tɔk bɔt sɔm ɔndrɛd kes dɛn. Bɔt sayɛnsman dɛn biliv se di nɔmba go pas dat fa fawe. Dis na bikɔs sɔmtɛm de sik kin so smɔl dat dɛn nɔr kin no bɔt dɛn. CFC sεndrכm kin kכnfyus bak wit כda jεnεtik kכndyushכn dεm.

Wetin na di poshubul simptom dɛm fɔ CFC syndrome?

De sik kin difrɛn pasmak frɔm pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, wae ɔda wan kin gɛt bɔrku sayn dɛm wae kin pasmak. Dɔn bak, dɛn sayn ya kin afɛkt difrɛn pat dɛn na di bɔdi.

Di sayn dɛm we gɛt fɔ du wit di at

Bɔku tɛm, dɛn kin bɔn pikin dɛn we gɛt CFC sik wit sɔm at prɔblɛm dɛn . Dɛn kɔl dɛn tin ya we dɛn bɔn wit at prɔblɛm. Sɔntɛnde, dɛn kin si dɛn sik ya we dɛn bɔn am, ɔ dɛn kin apin leta. Na sɔm ɛgzampul dɛn ya:

• fכ gεt abnכmal hat valv we de afekt di fכlכ fכ bכdi frכm di at to di lכng.
• At murmur na abnɔmal sawnd we dɛn kin yɛri na di at.
• wan ol bitwin di tu lכw chεmba dεm na di at (Ventricular Septal Defect).
• Atrial Septal Defect (ASD) na wan ol bitwin di tu כp chεmba dεm na di at.
• di at mכsul we wik כ tik (Hypertrophic Cardiomyopathy).

Simptom dɛm wae gɛt fɔ du wit skin ɛn ia

Klose to ɔlman wae gɛt dis sik go notis sɔm chenj na dɛn skin ɛn ia.

• Fɔ gɛt dray, rɔf skin . I nɔ kin smol lɛk pikin in skin, bɔt i kin dray smɔl ɛn rɔf.
• Dak bɔn mak dɛn (nevi) .We yu de si mɔ.
• Aylash ɔ aybrɔw we dɔn go dɔŋ ɔ we dɔn lɔs .
• I kin tan lɛk tin, i kin brok, i kin dray, ɛn i kin rɔtin .
• di apinεns fכ sכm sכm bכmp dεm we lεk blista (Keratosis Pilaris) na di an, leg, εn fes.
• Wrinkled skin na di palm ɛn di fut.

Di chenj dɛn we de apin na di we aw pɔsin in fes de luk

Sɔm patikyula tin dɛn kin si bak pan di we aw pikin dɛn we gɛt dis sik de luk na dɛn fes.

• Wan fes we wayd ɛn lɔng .
• Di aylid dɛn we de drɔp (Ptosis).
• distans bitwin di yay dεm we de go כp εn di yay dεm de slan dכn.
• Di fɔɛd ay ɛn smɔl na di tu say dɛn.
• Fɔ gɛt ed we big pas aw i fɔ bi (Macrocephaly).
• di yes dεm de dכn nכmal lεvεl.
• Wan shɔt nos.
• Wan smɔl chin.

Ɔda prɔblɛm dɛn we pikin dɛn kin gɛt

Pikin dɛm wae gɛt dis sik kin gɛt sɔm ɔda prɔblɛm dɛm:

• di delay fכ gro εn intellektual divεlכpmεnt prכblεm (bכku tεm mכdarεt to siriכs).
• I nɔ izi fɔ it .
• di wata we pasmak na di bren (Hydrocephalus).
• di lεvεl dεm we di hכmon we de gro de dכn.
• Di sik dɛn we kin mek pɔsin sik .
• We yu de gɛt wet ɛn yu nɔ de gro fayn (Failure to thrive).
• Prɔblɛm dɛn we pɔsin kin si .
• di mכsul dεm we wik εn we de sכmtεm sכmtεm (Hypotonia).

Wetin kin mek pɔsin gɛt CFC sik?

CFC sεndrכm de kכz bay wan mכtεshכn (chεnj) insay wan pan difrεn jin dεm. Dɛn jin ya na:

• `BRAF` jin (dεn kin afekt am mכst) .
• `MAP2K1` εn `MAP2K2` jin dεm (sεkכn mכst kכmכn)
• `KRAS` jin (rare) .

dis jin dεm de instrכkt wi bכdi fכ mek protin dεm we imכtant fכ sεl kכmyunikeshn. dis kכmyunikeshn prכsεs dεn kכl am di `RAS/MAPK path`. dis prכsεs implεnt fכ di divεlכpmεnt fכ di εmbrayo.

Bɔt sɔm pipul dɛn we dɛn dɔn no se gɛt CFC sindrom nɔr dɔn si se dɛn gɛt ɛni wan pan dɛn jɛnɛtik muteshon ya. Sayɛnsman dɛm biliv se dɛn kayn pipul ya kin gɛt `Costello Syndrome` ɔr `Noonan Syndrome`.

Yu tink se CFC sindrom kin kɔmɔt frɔm dɛn mama ɛn papa?

Bɔku tɛm, dɛn nɔ kin gɛt di sik we dɛn kɔl CFC syndrome . dis jin mכtεshכn kin apin insεf we di pikin de divεlכp. Bɔrku pipul dɛm wae gɛt dis sik nɔr kin gɛt dis sik na dɛn famili.

Bɔt, na smɔl tɛm nɔmɔ , dis sik kin kɔmɔt frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. if i inhεrit, i de insay ``Autosomal Dominant'' we. Dis min se ivin if pikin gɛt wan kɔpi fɔ di jin we dɔn chenj frɔm wan mama ɔ papa we nɔ gɛt di sik bɔt we gɛt di jin we dɔn chenj, di pikin kin stil gɛt di sik.

Aw fɔ no dis sik?

Sɔntɛnde dɛn kin no se i gɛt CFC sindrom bifo dɛn bɔn di pikin, we i gɛt bɛlɛ, .di כltra saund dεm we dεn du bifo dεn bכn kin gi klyu dεm, lεk di inkrεs pan di amniotic fluid we de rawnd di pikin, כ di pikin in ed εn bכdi we big pas aw dεn bin epk.

Bɔt bɔku tɛm, dɛn kin no dis sik we dɛn smɔl . If yu pikin gɛt sɔm sayn dɛn na in bɔdi we gɛt fɔ du wit dis sik, dɔktɔ kin ɔda fɔ du tɛst lɛk:

• chεk di pikin in at fכnshכn wit tεst dεm lεk `Electrocardiogram (ECG)` , `Echocardiogram` , כ `Cardiac Catheterization` .
• Mכlikul Jεnεtik Tεst fכ no di jεnεtik mכtεshכn dεm. Dis kin nid fɔ tek blɔd sɛmpul ɔ sampul sɛl dɛn we dɛn tek frɔm di insay pat na di chɛst.
• X-ray, CT skan, MRI, ɔ ɔltra saund tɛst fɔ si if ɛnitin de we nɔ de apin na di pikin in at, in bren, ɔ ɔda pat dɛn.
• Tεst bren wev dεm εn seizure aktiviti wit `Stirioεlektroεnεsεfalografi (SEEG)` .
• chεk insay di pikin in yay wit vishכn tεst lεk `Ophthalmoscopy` .

Aw dɛn kin trit CFC sindrom?

Infakt, no patikyula mɛrɛsin nɔ de fɔ CFC sindrom. Pikin dɛn we gɛt dis sik nid fɔ gɛt sɔpɔt frɔm wan tim fɔ dɔktɔ dɛn we gɛt difrɛn spɛshal wok dɛn, lɛk:

• Wan dɔktɔ we de mɛn di at
• Dɔktɔ we de mɛn pipul dɛn we gɛt skin
• Wan Endocrinologist (dɔktɔ we spɛshal pan di ɛndokrin sistɛm) .
• Dɔktɔ we spɛshal pan di dijestiv sistɛm (Gastroenterologist) .
• Wan man we de stɔdi bɔt di jɛnɛtiks
• Wan dɔktɔ we de stɔdi bɔt nyurolɔji
• Ɔkupeshɔn Tɛrapist
• Wan dɔktɔ we de mɛn pipul dɛn we gɛt yay
• Wan dɔktɔ we de mɛn pikin dɛn
• Fizik Tɛrapist
• Wan dɔktɔ we de mɛn pipul dɛn we de stɔdi bɔt raydio
• Spich Tɛrapist

Di tritmɛnt we dɛn kin pik kin difrɛn bad bad wan dipen pan wetin ɛni pikin nid. Bɔt dɛn kin gɛt:

• Antibayɔtik fɔ mek i nɔ gɛt di sik, mɔ if di pikin gɛt ɛni at prɔblɛm.
• Kɔntrol di sik dɛn we de mek pɔsin sik wit mɛrɛsin dɛn we de mek pɔsin in kɔnvuls .
• fכ put fכ it tyub tru di pikin in nos כ tru di skin na di bכdi fכ gi di kalori εn di nyutriεnt dεm.
• Mek yu si fayn fayn wan wit glas, kɔntakt lens, ɔ ɔpreshɔn .
• Fɔ it dɛn we gɛt bɔku kalori ɛn we gɛt fayn fayn tin dɛn fɔ it .
• Loshan ɔ ɔntmɛnt fɔ mek di skin nɔ dray.
• Mɛrɛsin fɔ mek di pikin in at wok fayn ɔ fɔ mek i nɔ gɛt prɔblɛm wit di dijestiv sistɛm.
• Mεdikeshכ n dεm fכ inkrεs di growth כmon lεvεl.
• Fɔ put shunt fɔ pul di wata we pasmak rawnd di pikin in bren ɛn ridyus di prɛshɔn.
• Ɔpreshɔn fɔ kɔrɛkt di at abnɔmal tin dɛn. Sɔm pikin dɛn kin nid fɔ gɛt ɔpreshɔn pan dɛn at fɔ kɔrɛkt wan valv we de na di pulmonari we nɔ fayn.

Wetin na di layf we pɔsin kin liv wit CFC sindrom?

Di layf we pɔsin we gɛt CFC sindrom kin liv kin dipen pan aw dɛn sik kin tranga. Bɔt if dɛn no di sik ɛn tritmɛnt fayn fayn wan, bɔku pipul dɛn we gɛt dis sik kin liv nɔmal layf.

Di tin we impɔtant pas ɔl na fɔ gi di pikin di sɔpɔt ɛn tritmɛnt we i nid di rayt tɛm, so dat i go liv di bɛst layf.

Yu tink se dɛn kin ebul fɔ avɔyd CFC sindrom?

biכs dis kכndyushכn de kכz fכ wan random jεnεtik mכtεshכn, no we nכ de fכ mek di mכtεshכn we de mek i gεt CFC sεndrכm.

Wetin ɔda tin a fɔ aks mi dɔktɔ bɔt CFC sindrom?

If yu pikin gɛt CFC syndrome, i go fayn fɔ aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Dis kin bi `Costello Syndrome` ɔr `Noonan Syndrome`? Wetin mek yu de se / nɔ de tɔk dat?
• Dis jenɛtik mutation na inhɛrit ɔ i apin bay chans?
• Mi pikin gɛt at prɔblɛm?
• Mi pikin gɛt ɛkstra wata na in bren?
• Yu tink se mi pikin go gɛt sik we de mek i sik?
• Dis sik go afɛkt di we aw mi pikin de si?
• Yu tink se mi pikin go nid ɔpreshɔn ɔ mɛrɛsin?
• Aw wi go mek shɔ se mi pikin gɛt di it we i nid?
• Ɛni spɛshal sayn dɛn de we a fɔ tɛl di dɔktɔ bɔt?
• Aw siriɔs intɛlektual disabiliti de?
• Us spɛshal pipul dɛn wi fɔ si ɛn aw ɔltɛm?
• Sɔpɔt grup dɛn de we go ɛp wi fɔ dil wit dis prɔblɛm?
• Yu kin se yu fɔ advays yu bɔt yu jɛnɛtiks?

Wetin na di difrɛns bitwin CFC sindrom, Costello syndrome, ɛn Noonan sindrom?

Di sayn dɛm fɔ CFC sindrom rili fiba di wan dɛm wae gɛt Costello Syndrome ɛn Noonan Syndrome. I nɔ kin izi fɔ no difrɛns bitwin dɛn tri tin ya we de apin na di bɔdi, mɔ we i smɔl.

Bɔt ɔl di tri tin dɛn we kin apin kin apin bikɔs ɔf difrɛn tin dɛn we kin apin na di jɛnɛtiks . Dɔn bak, i nɔ tan lɛk CFC sindrom, pɔsin we gɛt Costello Syndrome kin gɛt mɔ kansa .

We yu fɔs yɛri se yu pikin gɛt wan jenɛtik kɔndishɔn lɛk Cardiofaciocutaneous Syndrome (CFC Syndrome), yu kin fil bad bad wan. Di joyn fɔ no di sik kin bi wan rolakɔsta fɔ apɔntinmɛnt. Ɛn wit ɔl di sɔpɔt we yu pikin nid, yu de dɛn kin bizi. Bɔt i impɔtant fɔ tek tɛm fɔ yusɛf ɛn tray fɔ kɔntrol yu strɛs.Fɛn we fɔ kɔnɛkt wit ɔda mama ɛn papa dɛn we gɛt pikin dɛn we nɔ kin gɛt bɔku sik. Bɔku kɔmyuniti dɛn de na di Intanɛt, ɛn yu pikin in dɔktɔ dɛn kin no bɔt dɛn kayn kɔnekshɔn dɛn de.

Mɛsej we dɛn kin kɛr go na os

Cardiofaciocutaneous syndrome (CFC Syndrome) na wan sik wae nɔr kin bɔrku bɔt kin pwɛl pɔrsin in jɛnɛtiks. Nɔr panik if dɛn no se yu gɛt dis sik.

• Dis sik kin afɛkt di pikin in at, in fes, in skin, in ia, ɛn aw i de gro.
• Pan ɔl we no patikyula mɛrɛsin nɔ de, difrɛn tritmɛnt dɛn de ɛn spɛshal mɛrɛsin sɔpɔt we kin ɛp fɔ kɔntrol di sayn dɛn .
• Bɔku pikin dɛn kin liv nɔmal layf if dɛn trit dɛn fayn ɛn kia fɔ dɛn.
• Nɔto yu wan de. Gɛt ɛp frɔm dɔktɔ dɛn, advaysa dɛn, ɛn ɔda grup dɛn we de sɔpɔt mama ɛn papa dɛn.
• Di tin we impɔtant pas ɔl na fɔ lɛk ɛn sɔpɔt yu pikin ɛn wok fɔ gi am di bɛst layf.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu dɔktɔ. Dɛn kin gi yu ɔda ɛksplen ɛn gayd yu.

` Cardiofaciocutaneous syndrome, CFC Syndrome, Jɛnɛtik sik, At sik, Skin sik, Growth retardation, Pikin wɛlbɔdi, RASopathy