Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt Costello Syndrome!

Sɔntɛnde, wi kin rili wɔri we wi yɛri bɔt sɔm sik dɛn we wi pikin dɛn go gɛt, nɔto so? Ɛspɛshali if na sik we nɔ kin bɔku. Wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm we bɔku pipul dɛn nɔ yɛri bɔt, bɔt i impɔtant fɔ no bɔt, na Costello Syndrome. Lɛ wi tɔk bɔt am smɔl mɔ, rili simpul wan. Yu go tink se dis nɔ apin to mi, bɔt dis no go fayn fɔ ɛp pɔsin sɔmde.

Wetin na Kɔstɛl Sindrom?

Fɔ tɔk am simpul wan, Costello Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt bɔku pat dɛn na di bɔdi. Fɔ ɛgzampul, i kin afɛkt bɔku ɔgan sistɛm dɛn lɛk di bren, di bon dɛn, di at, di insay, di mɔsul dɛn, di kidni dɛn, ɛn di skin.

Naw imajin, wi gɛt sɛl dɛn na wi bɔdi. Na dɛn sɛl ya de gro ɛn mek wi ripɛnt. nכmal wan, dεn sεl dεm ya de gro εn sheb akɔdin to sכm kכntrol. כltu, insay Costello syndrome, i tan lεk se dεn sεl dεm ya gεt kכmand fכ "grכ εn divayd tu mכch, tu kwik." di rizin fכ dis na biכs difεkt de na di protin dεm we de kכntro di sεl dεm we de gro. Dis we ya, di sɛl dɛn kin bɔku we nɔ nid ɛn kwik kwik wan, ɛn i kin mek dɛn gɛt tumbu dɛn we gɛt kansa ɛn we nɔ gɛt kansa .

Aw dis sik kin kɔmɔn?

Infakt, di sik we dɛn kɔl Costello syndrome na wan sik we nɔ kin apin so ɔltɛm. Dɛn se na bitwin 100 ɛn 1500 pipul dɛn nɔmɔ ɔlsay na di wɔl gɛt dis sik. Dis min se na wan sik we nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm wae de sho se yu gɛt Costello syndrome?

De sayn dɛm fɔ Costello syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, ɛn aw de sik kin difrɛn. Dɛn sayn ya kin afɛkt difrɛn pat dɛn na di bɔdi. Lɛ wi tek wan luk pan de men sayn dɛm wae yu kin si:

• di at sik: kכndishכn dεm lεk di at ritm dεm we nכ de rεgεl (`arrhythmia`) εn di at mכsul we de tik (`hypertrophic cardiomyopathy`) kin apin. Sɔntɛm dɛn tin ya na di sayn dɛn we de mek pɔsin denja pas ɔl.
• I nɔ izi fɔ gi pikin in bɛlɛ ɛn fɔ gi pikin in bɛlɛ: Ɛspɛshali we i smɔl, i kin at fɔ mek di pikin gi in bɛlɛ ɛn it. Sɔntɛnde, dɛn kin nid fɔ yuz tyub fɔ gi tin fɔ it .
• di spεnal kכva: yu kin si kכndishכn dεm lεk we di spayna kכva na di sayd (scoliosis) כ fכd kכva (kyphosis).
• Intɛlektual disabiliti ɛn di bren divɛlɔpmɛnt abnɔmaliti: Mild to mɔdaret intɛlektual disabiliti kin apin. sכm abnכmal tin dεm na di bren divεlכpmεnt, lεk Chiari malfכmeshכn, dεn kin si bak.
• Prɔblɛm fɔ si ɛn di tit: We yu nɔ de si fayn, prɔblɛm wit di pozishɔn ɔ di we aw di tit de gro kin apin.
• di strכkchכ chenj dεm na di kidni dεm: sכm chenj dεm kin de na di shep כ posishכn fכ di kidni dεm.
• di mכsul dεm we wik (hypotonia): di mכsul dεm na di bכdi kin lכs sכmtεm εn dεn nכ kin gεt trεnk sכmtεm.

Di kwaliti dɛn we pɔsin kin si na in bɔdi

Apat frɔm dɛn sayn ya, yu kin si sɔm difrɛn tin dɛn we pikin ɛn big pipul dɛn we gɛt Kɔstɛl sindrom de luk:

• Fɔ fleks pasmak na di finga ɛn di an jɔyn dɛn.
• Fɔ gɛt tayt Akilis tɛndon na di bak pat pan di il.
• Fɔ gɛt ed we big pas di avɛrej, big mɔt, ful lip, wayd nos, ɛn we de luk kɔs smɔl to di fes .
• Fɔ gɛt lɔs skin na di an ɛn fut (`cutis laxa`).
• I de gro sloslo we i smɔl ɛn i nɔ de lɔs in ayt afta i dɔn big.
• sכm εria dεm na di skin kin dak pas di skin we de rawnd (hyperpigmentation).

Wetin mek di tכmכro dεm de fכm pan dis kכndyushכn?

As a bin dɔn tɔk bifo tɛm, di jenɛtik mutation we de mek Costello syndrome de mek di sɛl dɛn gro ɛn sheb kwik kwik wan. Dat we di sɛl dɛn de sheb pasmak na in de mek di bɔdi gɛt tumbu. Dɛn tumbu ya kin bi kansa ɔ nɔ kin gɛt kansa (benign).

Dis na sɔm pan di kayn nɛt dɛn we dɛn kin yuz mɔ:

• Papilloma (nɔ gɛt kansa): Dɛn tin ya na smɔl smɔl tin dɛn we de gro lɛk wɔt we kin apin rawnd di nos, mɔt, ɔ anus.
• Rhabdomyosarcoma (kansa): Dis na kansa we kin apin na di mɔsul tisu we i smɔl.
• Nyuroblastoma (kansa): Dis na kansa bak we de na di nεv sεl dεm we kin kכmכn bכku pan pikin dεm εn yכng big pipul dεm.
• Transitional cell carcinoma (kansa): Dis na wan kayn blad kansa we kin apin pan big pipul.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Costello syndrome?

di men tin we de mek di Costello syndrome na di muteshon na di HRAS jin na wi jin dεm. dis HRAS jin de mek wan protin we dεn kכl H-Ras. di wok we dis protin de du na fכ kכntro di sεl dεm we de gro εn di sεl dεm we de sheb.

Tink bɔt dis H-Ras protin as layt swich. we di HRAS jin de du mכtεshכn, di "כf" switch fכ dis protin de stכp fכ wok. i tan lεk se di protin de "on" כltεm. dis de mek di sεl dεm de gεt signal dεm we nכ nid כltεm fכ "grכ mכr, divayd mכr." Dis na di bεs jεnεtik bakgrכn fכ Costello syndrome.

Dis na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?

כl di kes dεm fכ Costello syndrome de kכz fכ nyu jεnεtik chenj dεm (`de novo` mכtεshכn). Dis min se pikin kin gɛt dis sik randomly, witout ɛnibɔdi na di famili dɔn gɛt dis sik bifo.

Bɔt, na smɔl tɛm nɔmɔPikin dɛn kin gɛt dis sik frɔm dɛn mama ɛn papa. dis dεn kכl am ``autosomal dominant''. dis min se ivin if na wan mama εn papa nכmכ gεt di jεnεtik vεryushכn, lεk 50% chans de fכ di pikin go gεt am.

Udat kin gɛt di sik we dɛn kɔl Costello syndrome?

Dis sik kin apin to ɛnibɔdi. As wi bin dɔn tɔk, bɔku tɛm i kin apin bay wilful, ɛn dɛn nɔ kin gɛt ɛni famili istri.

Aw dɛn kin no dis sik? (Diagnosis) .

Dɛn kin no bɔt di sik we dɛn kɔl Costello syndrome we dɛn smɔl. Dɔktɔ go tek tɛm luk di pikin in sik fɔs. Dɔn, dɛn go du wan jenɛtik tɛst fɔ no if di jenɛtik abnɔmaliti. Di dɔktɔ go aks bak if ɛnibɔdi na di famili gɛt histri bɔt di sik we dɛn kɔl jenɛtik disɔda, bikɔs i nɔ kin rili gɛt dis sik.

Sɔntɛnde, di sayn dɛm fɔ Costello syndrome kin tan lɛk ɔda jɛnɛtik sik dɛm, lɛk cardiofaciocutaneous syndrome (CFC syndrome) ɛn Noonan syndrome . So, i impɔtant fɔ tɛst di jɛnɛtiks fɔ mek dɛn no di sik kɔrɛkt wan. Na in de alaw fɔ difrɛns pan dɛn kɔndishɔn ya.

Wetin na di tritmɛnt dɛm fɔ Costello syndrome?

Bɔt i sɔri fɔ no se, no definitiv mɛrɛsin nɔ de fɔ Costello syndrome. So, di tritmɛnt de mɔ fɔ kɔntrol ɛn manej di sik dɛn. Bɔku tritmɛnt dɛn de we yu kin pik:

• Ɔpreshɔn: Dɛn kin nid ɔpreshɔn fɔ tin dɛn lɛk at sik, it prɔblɛm, ɛn spɛnal stenɔsis.
• Mɛrɛsin: Dɛn kin gi mɛrɛsin lɛk beta-blɔka, kalsiɔm chanɛl blɔk, ɛn mɛrɛsin fɔ mek dɛn nɔ gɛt at sik.
• Fɔ mek yu si fayn: wɛr glas ɔ du ɔpreshɔn pan yu yay.
• fכ mek di mכsul dεm strכng εn trit abnכmaliti dεm we di bon dεm de gro: fכ wɛr spεshal sכpכt (`brace`), fכ gi fכshal tεrapi εn wok tεrapi.
• Speshal Edukeshon Program: Rifer to speshal edukeshɔn program fɔ sɔpɔt di pikin in lanin na skul.
• Tritmɛnt fɔ tumor: Ɔpreshɔn ɔ kemotɛrapi fɔ kansa tumor. Fɔ pul di tɔŋ dɛn we nɔ gɛt kansa lɛk papilomas we dɛn yuz dray ays .

Di tin we impɔtant pas ɔl na fɔ fala ɔl dɛn tritmɛnt ya lɛk aw dɔktɔ tɛl yu, akɔdin to di pikin in kɔndishɔn ɛn di sayn dɛm.

Aw layf go tan lɛk wit dis sityueshɔn?

Costello syndrome na wan sik wae de kam wae yu de liv yu layf.No patikyula mɛrɛsin nɔ de fɔ am. De kayn layf wae pɔrsin wae gɛt dis sik kin te bay aw de sik kin tranga, mɔr lɛk aw pɔrsin gɛt dis sik.

Bɔt if dɛn no di sik kwik kwik wan ɛn bigin fɔ trit am kwik, dɛn kin ɛp di pikin fɔ liv fayn layf. Tritmεnt nכ de כnli kכntrכl di simptom dεm, bכt i de trit di tכmכro dεm we de kכz fכ di sεl dεm we de sheb pasmak. So, op de.

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl Costello syndrome?

Infakt, i nɔ kin izi fɔ mek dɛn nɔ gɛt dis sik. Bikɔs, bɔku tɛm, i kin apin randomly, we dɛn nɔ bin de ɛkspɛkt. Bɔt if yu no se sɔmbɔdi na yu famili gɛt jɛnɛtik sik lɛk Costello syndrome, yu kin gɛt sɔm aidia bɔt yu risk bay we yu tɔk to dɔktɔ ɛn gɛt jenɛtik kɔyl (`jɛnɛtik kɔyl`) ɛn, if nid de, `jɛnɛtik tɛst` .

Ustɛm a fɔ go to dɔktɔ?

If dɛn dɔn no se yu pikin gɛt Costello syndrome ɛn i de sho sɔm sayn dɛn we de afɛkt in nɔmal layf , mɔ if i nɔ izi fɔ it ɔ i nɔ de gro fayn, go to dɔktɔ wantɛm wantɛm.

Sɔm tɛm dɛn de bak we yu fɔ go na di imejensi rum, mɔ if yu gɛt ɛni wan pan dɛn tin ya we gɛt fɔ du wit at:

• At bit we nɔrmal fast ɔ slo.
• I nɔ kin izi fɔ yu fɔ blo.
• Chɛst de pen.
• Fɔ fil se yu diziz ɔ yu ed yu nɔ gɛt bɛtɛ trɛnk.

If yu si dɛn sayn ya, nɔr de delay.

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

We yu kam fɔ no se yu pikin gɛt dis kayn sik we nɔ kin apin so ɔltɛm, i nɔmal fɔ gɛt bɔku kwɛstyɔn dɛn. I impɔtant fɔ aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin na di sayd ɛfɛkt dɛn we di tritmɛnt dɛn we dɛn kin gi kin gɛt?
• Mi pikin nid fɔ gɛt ɔpreshɔn ?
• Aw ɔltɛm a fɔ kam fɔ chɛk fɔ wach di sik dɛn we mi pikin gɛt?
• Mi pikin nid di savis fɔ spɛshal pɔsin ? (e.g. dɔktɔ we de mɛn at, dɔktɔ we de mɛn pipul dɛn we gɛt jɛnɛtiks)

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Na nɔmal tin fɔ fil bad ɛn wɔri we yu kam fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm lɛk Kɔstɛl Sindrom. Na di sem tin fɔ ɛnibɔdi. Bɔt mɛmba se nɔto yu wangren de. Dɔktɔ ɛn wɛlbɔdi wokman dɛn de du dɛn bɛst fɔ gi yu pikin di bɛst tritmɛnt ɛn kia we i nid.

Di tin we impɔtant pas ɔl na fɔ no ɔltɛm bɔt di sik dɛn we yu pikin gɛt. Yu fɔ no mɔ bɔt ɛni smɔl smɔl tɔŋ we kin kam bikɔs di sɛl dɛn de sheb pasmak. Di kwik we dɛn no ɛn trit dɛn tin ya, na di mɔ i go fayn.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni ɔda kwɛstyɔn, nɔ shem fɔ tɔk to dɔktɔ.

` Costello Syndrome, jεnεtik sik dεm, sik dεm we nכ kin apin, pikin hεlth, HRAS jin, kεnsar risk, simptom dεm