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

Di gladi at we mama ɛn papa dɛn kin gɛt we dɛn de luk pikin we dɛn jɔs bɔn, nɔ go ebul fɔ ɛksplen am, nɔto so? Na di sem tɛm, dɛn kin pe atɛnshɔn bad bad wan to ɛni smɔl tin bɔt di pikin. Sɔntɛnde yu kin tink se di we aw di pikin in ed shep kin strenj smɔl, ɔ di yay dɛn kin luk big. Na nɔmal tin fɔ fil smɔl fɔ fred ɛn sɔprayz we yu si tin lɛk dis. Bɔt nɔto ɔl di tin dɛn we pɔsin kin si we nɔ kɔmɔn, dat kin sho se pɔsin gɛt siriɔs sik. Bɔt i rili impɔtant fɔ no bɔt wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl Pfeiffer Syndrome, we wi go tɔk bɔt tide.

Wetin na di sik we dɛn kɔl Pfeiffer Syndrome? Lɛ wi ɔndastand am simpul wan.

Fɔ tɔk am simpul wan, Pfeiffer Syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. wetin kin apin na dat bifo di pikin in bren fulכp, di ples dεm we di bon dεm na di sכkul de jכyn togeda, we dεn kכl di sutura dεm, de kכloz bifo tεm. Dɛn kɔl dis kraniosynostosis insay mεdikal tεm dεm. Imajin, wi bren gɛt ples fɔ gro. So, we di skel klos kwik, di bren de gro insay, ɛn di skel de push agens am. Dis na di rizin we mek di shep we di skel gɛt kin chenj.

Bɔku men tin dɛn de we kin mek pɔsin no di pikin we gɛt dis sik.

• Di midul pat pan di fes nɔ de divɛlɔp fayn ɔ i tan lɛk se i dɔn sink insay.
• Di yay dɛn kin tan lɛk se dɛn big ɛn dɛn kin kɔmɔt na do . Sɔntɛnde, dɛn kin put di yay fa fawe.
• Di shep we di skel gɛt nɔ kɔmɔn.
• Wan ɔda spɛshal tin na dat di big finga dɛn ɛn di big fut finga dɛn kin bɛn na do frɔm di ɔda finga dɛn.

Nɔr panik if yu si wan ɔr mɔr pan dɛn sayn ya. Bɔt i rili impɔtant fɔ go to dɔktɔ fɔ advays.

Yu tink se sɔm kayn Pfeiffer Syndrome de?

Yɛs, dɔktɔ dɛn dɔn no tri men kayn sik, i go dipen pan aw i siriɔs. Lɛ wi si wetin dɛn bi.

Tayp 1

Dis na de kayn wae nɔr kin gɛt bɔrku sayn dɛm, ɔr wae nɔr kin pasmak. dεn kכl dis bak ``klasik Pfeiffer syndrome.'' dεn pikin dεm ya kin gεt sכm fכs difכmiti dεm bak, εn lεk aw wi bin dכn tכk, chenj dεm na di big fut dεm. Bɔt if dɛn trit dɛn pikin ya di rayt we, dɛn kin liv nɔmal layf ɛn lan wit nɔmal lɛvul fɔ gɛt sɛns. So, dis na smɔl rilif.

Tayp 2 we de na di wɔl

Dis na tin we siriɔs pas di fɔs kayn. dis kayn we de sho se i gεt kכmpleks prכblεm dεm wit di bon dεm we de gro na di limb dεm. Di sayn dɛm na:

• Nɔ ebul fɔ bɛn ɛn ɛkstɛnd di ɛlb ɛn ni jɔyn dɛn fayn fayn wan.
• Prɔblɛm dɛn we gɛt fɔ du wit nyurolɔjik.
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual.

insay dis kayn we, di skel de tek "tri-lobed" כ "cloverleaf" shep. Dis min se wan tin de we swel, we de kכmכt na di tu say dεm εn bifo di ed. If dɛn nɔ trit dis kayn we kwik, i kin mek pɔsin in layf de pan denja.

Tayp 3 we yu de du

Dis na tin we siriɔs jɔs lɛk di sɛkɔn kayn tin. כltu, yu nכ go si di "carnation" shep fכ di skel na dis kes. Bifo dat:

• Di bays pan di skel shɔt.
• Tit kin de we dεn bכn am (natal tit dεm).
• i tan lεk se di yay dεm de kכmכt frכm dεn sכket dεm (ocular proptosis).
• I kin bi se di visceral anomalies de.

Di prɔgnosis fɔ tayp 3 sɛf nɔr so gud. If dɛn nɔ trit am, chans de fɔ mek pɔsin day.

So as yu si, aw ɛni wan pan dɛn tri kayn tin ya kin tranga kin difrɛn. Na dat mek i impɔtant fɔ no di sik kwik kwik wan ɛn fɔ trit am.

Aw kɔmɔn tin na Pfeiffer Syndrome?

Dis na rili wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm. Statistikin sho se na wan pan ɔl wan ɔndrɛd tawzin pikin dɛn we dɛn bɔn kin gɛt dis sik. Dat min se i nɔ kin apin so ɔltɛm.

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

as wi bin dכn tכk bכt, di praymar kכz na we di sutura dεm we de bitwin di bon dεm na di pikin in sכkul de kכlכs bifo tεm we di pikin de fכm. Afta dat, di pikin in bren kin kɔntinyu fɔ gro. dis de mek di prεshכn we de insay di sכkul bכku, we de mek sכm fכs tin dεm we de afekt di pikin in luk. Dɛn tin ya na:

• Di ed kin tan lɛk se i big pas aw i kin bi, bɔku tɛm i kin gɛt ay fɔrɛst.
• di yay dεm we de kכmכt כ distans bitwin di yay dεm we de go כp.
• Di nos kin bi pɔynt ɛn i kin tan lɛk mɔt.
• Bikɔs di jaw smɔl , di tit dɛn kin krawd togɛda ɛn pul dɛn togɛda.

Apat frɔm dat, ɔda tin dɛn de we wi kin du wit wi bɔdi:

• di big fut finga dεm εn di big fut finga dεm wayd εn dεn posishכn difrεnt frכm di כda fut finga dεm.
• Dɛn kin glu di finga dɛn togɛda ɔ dɛn kin put wɛb.

Nɔto ɔl dɛn sayn ya kin bi di sem fɔ ɛvri pikin. E kin difrɛn difrɛn wan bay aw de sik tranga.

Aw Pfeiffer Syndrome kin afɛkt pikin in bɔdi?

biכs di pikin in sכkul de divεlכp kwik kwik wan we di pikin de fכm, i kin gεt difrεn kכmplikεshכn dεm. Sɔm pan dɛn na:

• Hydrocephalus: Dis na we wata we lεk wata de bכku rawnd di bren, we de mek di prεshכn insay di sכkul bכku.
• Prɔblɛm dɛn we gɛt fɔ du wit di tit: lɛk we yu de grind yu tit ɛn we yu de kɔt yu tit.
• I nɔ de yɛri fayn igen.
• I nɔ izi fɔ muv bikɔs di jɔyn dɛn nɔ de wok fayn.
• Slip apnɛa fɔ slip.
• i at fכ brith tru di nos (Airway obstruction).
• Prɔblɛm dɛn we pɔsin kin gɛt we i de si.

Dɛn kɔmplikeshɔn ya nid fɔ gɛt tritmɛnt kwik kwik wan ɛn fɔ mɛn am fɔ lɔng tɛm.

Wetin kin mek pɔsin gɛt Pfeiffer Syndrome?

Di men tin we kin mek pɔsin gɛt dis sik na we wan jin chenj ɔ chenj.Dis kin mek di jin we dɛn de tɔk bɔt nɔ de wok fayn. כltεm, dis chenj de apin insay di jin we dεn kכl `FGFR2 (fibroblast growth factor receptor)`. כltu, i kin kכz bak bay wan chenj na di jin we dεn kכl `FGFR1`. insay wan kes, dεn dכn fכnshכn wan sεm kayn chenj bak na di `FGFR3` jin.

fכ simpul wan, dis jεnεtik chenj de ambɔg di kכmyunikeshn bitwin di protin dεm we de εp di sεl dεm fכ gro (fibroblast growth factors) εn dεn rεsεpכta dεm. dis kin mek di εmbrayo stej, bifo di pikin in bren fulכp, di sutura dεm bitwin di bon dεm na di sכkul kin kכloz. Dɔn, as di bren de gro, di skel bon dɛn we dɔn lɔk de push dɛnsɛf, ɛn dɛn kin chenj dɛn shep, ɛn mek tin dɛn we nɔmal fɔ gro na difrɛn pat dɛn na di bɔdi.

dis jεnεtik mכtεshכn kin kכmכt frכm wan pan di mama εn papa (autosomal dominant). כ, i kin bi nyu, random chenj na di pikin in DNA (de novo mutation). dεn dכn si se dεn chenj dεm ya we kin apin we dεn kכmכn sכmtεm kin kכmכn sכmtεm if di papa ol pas 40-45 ia di tεm we dεn bכn di pikin.

Udat dis tin we de apin de afɛkt?

Pfeiffer Syndrome na wan sik wae nɔr kin bɔrku, bɔt e kin apun to ɛnibɔdi. I nɔto sɔntin we ɛnibɔdi kin mek bay wilful, ɛn i nɔto sɔntin we pɔsin kin ebul fɔ stɔp. So, i impɔtant fɔ mek wi no bɔt dis.

Aw dɛn kin no se pɔsin gɛt Pfeiffer Syndrome?

Dɛn kin no dis sik ivin bifo dɛn bɔn di pikin. tεm dεm de we dεn kin no di pikin in skel sistεm we nכ nכmal we di pikin de stej tru di כltra saund skan bifo di bכn כ magnεtik rεsכnans imej (MRI) tεst.

Bɔt bɔku tɛm, dɛn kin kɔnfirm di sik afta dɛn bɔn di pikin. Dɔktɔ kin du di pikin in bɔdi ɛgzam ɛn i kin du kɔmpyuta tomografi skan (CT scan) ɔ MRI fɔ luk fɔ if tin nɔ de na di skel ɛn ɔda bon dɛn. jεnεtik tεst, we de luk fכ chenj dεm na di FGFR1 εn FGFR2 jin dεm, kin kכnfכm di diagnosis bak.

Wetin na di tritmɛnt fɔ Pfeiffer Syndrome?

Tritmɛnt fɔ dis sik na bay di sayn dɛm. Yu pikin in dɔktɔ kin tɛl yu fɔ du bɔku ɔpreshɔn fɔ kɔrɛkt di bon dɛn we nɔ de gro fayn.

wan tritmɛnt we dɛn kin du wantɛm wantɛm na fɔ ɔpreshɔn fɔ mek dɛn nɔ gɛt prɛshɔn pan di skel (craniosynostosis) we di pikin in bren de divɛlɔp. כ, if wata de bכku na di sכkul (hydrocephalus), dεn kin put sכm sכm tכb (shunt) insay di sכkul fכ mek di wata kכmכt. Dɛn kin du dis ɔpreshɔn bifo di pikin ol 4 mɔnt.

Insay di pikin in fɔs ia, dɔktɔ dɛn kin tɛl am bak se dɛn fɔ du ɔpreshɔn fɔ opin di skel fɔ mek di bren ebul fɔ gro.

Afta dat, .Dɛn kin du rikostrɔktiv ɛn kɔsmɛtik ɔpreshɔn fɔ kɔrɛkt di fes we nɔ de apin, fɔ opin di say dɛn we di briz de blo, ɛn fɔ mek di skel shep bak.

Di impɔtant tin na dat, ɔnda di pikin in dɔktɔ in sɔpɔtishɔn, dɛn kin ɛp bɔku pikin dɛn we gɛt Pfeiffer Syndrome fɔ du ɔl wetin dɛn ebul fɔ du.

Wetin na di tritmɛnt dɛm wae de fɔ pul di prɔblɛm dɛm wae kin kam wit Pfeiffer Syndrome?

Apat frɔm ɔpreshɔn, tritmɛnt dɛn de fɔ mek di prɔblɛm dɛn we dis sik kin gɛt nɔ bɔku.

• Dental tritmɛnt ɛn ɔtodɔnt fɔ tin dɛn lɛk fɔ krawd di tit ɛn di palata we gɛt ay arch.
• Ay tritmɛnt fɔ di wan dɛn we nɔ de si fayn.
• Yuz tin fɔ ɛp fɔ yɛri fɔ pipul dɛn we nɔ de yɛri fayn.

Dɛn kin du ɔl dis fɔ ɛp di pikin fɔ liv nɔmal layf as i pɔsibul.

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Bɔt i sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ di Pfeiffer Syndrome. Dɛn kin du ɔpreshɔn ɛn ɔda tritmɛnt dɛn fɔ mek di pikin nɔ gɛt bɛtɛ sik ɛn ɛp am fɔ gro fayn fayn wan.

Wetin yu fɔ ɛkspɛkt as mama ɔ papa fɔ pikin we gɛt Pfeiffer Syndrome?

Pfeiffer Syndrome na wan sik wae de kam wae yu de liv yu layf wae nɔr gɛt ɛni mɛrɛsin. Yu pikin in dɔktɔ go mek wan tritmɛnt plan fɔ ɛp fɔ kɔntrol di sayn dɛm. Dis kin inklud fɔ du bɔku ɔpreshɔn.

• If yu pikin gɛt Tayp 1 Pfeiffer syndrome, i go mɔs bi se di layf we dɛn go liv nɔmal.
• Bɔt pikin dɛn we gɛt Tayp 2 ɔ Tayp 3 Pfeiffer syndrome kin gɛt mɔ prɔblɛm dɛn ɛn dɛn kin liv shɔt layf if dɛn nɔ trit dɛn .

So, i rili impɔtant fɔ kɛr yu pikin go fɔ chɛk in wɛlbɔdi ɔltɛm fɔ no bɔt ɛni wɛlbɔdi ɔ divɛlɔpmɛnt prɔblɛm we i kin gɛt we i de gro.

A kin ridyus di risk fɔ bɔn pikin we gɛt Pfeiffer Syndrome?

If yu de op fɔ gɛt pikin, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks ɛn aw fɔ tɛst yu jɛnɛtiks. If yu ɔ yu patna gɛt di FGFR1 ɔ FGFR2 jin muteshon, 50% risk de fɔ mek yu pikin gɛt am. Dis min se if yu gɛt pikin, 50-50 chans de fɔ mek dɛn gɛt di kɔndishɔn ɔ nɔ gɛt am.

Bɔt if dɛn mama ɛn papa ɔl tu nɔ gɛt dis sik, di risk fɔ mek di sɛkɔn pikin gɛt dis sik rili smɔl. כltu, dεn nכ kin se i komplit ziro, biכs di random jεnεtik chenj dεm we wi bin dכn tכk bכt (de novo mכtεshכn) kin apin.

Ustɛm a fɔ go to mi pikin in dɔktɔ?

If yu pikin gɛt Pfeiffer Syndrome, no bɔt dɛn tin ya:

• If di pikin gɛt prɔblɛm fɔ blo.
• If di say we dɛn du di ɔpreshɔn nɔ de wɛl, in kɔlɔ dɔn chenj, i swel, ɔ i gɛt pus (dis kin min se i gɛt infekshɔn).
• If di pikin nɔ de mit di divɛlɔpmɛnt maylston dɛm we fit in ej.
• If dɛn nɔr de ansa to simpul, tɔk kɔmand ɔ if dɛn gɛt infɛkshɔn na dɛn yes ɔltɛm.

If yu si sɔntin lɛk dis, go to dɔktɔ wantɛm wantɛm.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

I fayn fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin na di tritmɛnt we fit mi pikin pas ɔl?
• Wetin na di prɔblɛm dɛn we kin apin we pɔsin du ɔpreshɔn fɔ mɛn dis sik?
• If a gɛt ɔda pikin, risk de fɔ mek insɛf gɛt dis sik?

Apat frɔm dɛn kwɛstyɔn ya, aks di dɔktɔ ɛnitin we yu gɛt na yu maynd.

Yu tink se Prince in pikin bin gɛt Pfeiffer Syndrome bak?

Yɛs, dis na tin we bɔku pipul dɛn sabi. Insay in 2017 buk we nem The Most Beautiful: My Life with Prince, Mayte Garcia, we na di uman we na di fambul myusishan Prince in wɛf, bin tɔk bɔt aw di pikin we dɛn bɔn insay 1996 bin gɛt Pfeiffer syndrome type 2. I sɔri fɔ no se di pikin day we i bin smɔl bikɔs ɔf di bad bad prɔblɛm dɛn we i bin gɛt frɔm di sik. Garsia ɛksplen se in ɛn Prins nɔ bin gɛt di jenɛtik kɔndishɔn, ɛn dɛn biliv se di pikin bin gɛt am bikɔs ɔf wan nyu jɛnɛtik muteshɔn. Dis de sho aw de sik kin siriɔs ɛn aw sɔmtɛm nɔr kin no aw i kin bi.

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

Pfeiffer Syndrome na wan sik wae nɔr kin bɔrku ɛn kɔmpleks jɛnɛtiks. I kin nid fɔ du bɔku ɔpreshɔn fɔ mek i nɔ gɛt di sik. Bɔt if yu gɛt di rayt tritmɛnt ɛn gud dɔktɔ de kia fɔ yu pikin, i go ebul fɔ gro ɛn lan lɛk ɔda pikin dɛn. Bɔt sɔm prɔblɛm dɛn de we yu fɔ no bɔt.

If pɔsin na yu famili gɛt Pfeiffer Syndrome, ɛn yu de op fɔ gɛt pikin, i rili impɔtant fɔ gɛt kɔyl fɔ yu jɛnɛtiks. Dis go ɛp yu fɔ no if yu pikin de pan denja fɔ gɛt dis sik.

A op se dis infɔmeshɔn go ɛp yu. Mɛmba se nɔto yu wangren de. I rili impɔtant fɔ gɛt sɔpɔt frɔm dɔktɔ ɛn fambul dɛn we yu de dil wit tin dɛn lɛk dis.

` Pfeiffer syndrome, Pfeiffer syndrome, jεnεtik sik dεm, sכkul, kraniosynostosis, pikin hεlth, FGFR jin, כpεrayshכn