Yu pikin in ed shep nɔmal? Lɛ wi tɔk bɔt Pfeiffer Syndrome

Wɔd nɔ go ebul fɔ tɔk bɔt di gladi at we mama ɔ papa kin gɛt we dɛn si pikin we dɛn jɔs bɔn. Bɔt sɔm tɛm, i nɔmal fɔ fil bɔku fred ɛn wɔri if yu si se di shep we di pikin in ed gɛt na strenj smɔl. Tide wi go tɔk bɔt wan rare kɔndishɔn wae kin briŋ dis kayn frayd na yu maynd, bɔt yu kin ebul fɔ manej am if yu ɔndastand am fayn fayn wan. Dɛn kɔl dis Pfeiffer Syndrome. Nɔ fred we yu yɛri dis nem. Lɛ wi tɔk bɔt am simpul wan, stɛp bay stɛp.

Wetin na di sik we dɛn kɔl Pfeiffer Syndrome?

Fɔ tɔk am simpul wan, Pfeiffer syndrome na wan sik we nɔ kin apin we dɛn bɔn am we kin afɛkt di divɛlɔpmɛnt fɔ di pikin in skel ɛn in fes bon dɛn.

Fɔ ɔndastand dis, lɛ wi fɔs luk aw wi skel de fɔm. We dɛn bɔn pikin, di tap pat pan dɛn ed nɔ kin mek wit wan bon. Na wan kɔlekɛshɔn we gɛt bɔku bon fragmɛnt dɛn, ɔ plet dɛn. spεshal joyn dεm (sutures) de bitwin dεn bon plet dεm ya. Dɛn tin ya de fɔ mek di skel gro, ɔ fɔ mek i big, as di bren de gro. nכmal wan, dεn bon plet dεm ya kin fכs tכgeda εn kin bi sכlid wans di ed dכn fulכp.

Bɔt pan pikin we gɛt Pfeiffer syndrome, di bon plet dɛn we de na di skel kin fiuz togɛda kwik kwik wan, bifo di bren ful-ɔp. Tink bɔt am lɛk plant we de insay smɔl pɔt, ɛn as i de gro, di rut dɛn kin stɔp insay di pɔt. Bikɔs di bren nɔ gɛt bɛtɛ ples fɔ gro, di shep fɔ di skel ɛn in fes kin chenj we nɔmal.

Wetin na di kayn sik we dɛn kɔl Pfeiffer syndrome?

Pfeiffer syndrome dεn sheb am to tri men tכp dεm. pan ɔl we ɔl dɛn kayn tin ya kin afɛkt di we aw di pikin de luk, di kayn 2 ɛn 3 kin rili bad. Dɛn kin mek pɔrsin nɔr de tink fayn, i kin mek i nɔ ebul fɔ lan fayn, ɛn ɔda siriɔs prɔblɛm dɛn we gɛt fɔ du wit di bren, di muvmɛnt, ɛn di nervɔs sistɛm.

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

Dis kכndyushכn de kכz fכ wan mכtεshכn na wan jin we de kכntro di gכt εn day fכ di sεl dεm na wi bכdi.

Sɔntɛnde, dis kin kɔmɔt frɔm di mama ɛn papa to di pikin. Bɔt bɔku tɛm, di mama ɛn papa nɔ kin gɛt dis sik. dis min se dis kכndyushכn de kכz fכ nyu chenj we de apin randomly (out of the blue) we di pikin in jin dεm de divεlכp. So, as mama ɔ papa, nɔ fil gilti fɔ dis.

dis jεnεtik mכtεshכn de mek chenj na di we aw sכm protin dεm de prodyuz εn fכ wok we uman bεlε. dis kin mek dεn protin dεm de sεnd di rכng signal to di pikin in sכkul bon dεm fכ "fyuz tכgeda tu kwik." Dis kin put prɛshɔn pan di bren ɛn mek di skel chenj in shep. Sɔntɛnde, di bon dɛn na di finga ɛn fut finga dɛn kin jɔyn bak tumɔs kwik.

Wetin na di men sayn dɛm?

Di simptom dεm kin difrεn frכm pikin to di pikin εn i kin dipכnt pan di kayn sik we yu gεt. Dɛn kin si dɛn sayn ya mɔ na di ed ɛn fes, finga dɛn, jɔyn dɛn, ɛn ɔda pat dɛn na di bɔdi.

Hed ɛn fes

• Wan brayt, flat nos wit wan tip we de kɔba dɔŋ
• Ay dɛn we de fa frɔm dɛnsɛf ɛn we de kɔmɔt na do
• Wan shɔt ed frɔm bifo to bak
• Wan fɔrɛst we rili ay
• Wan sink apinans na di midul pan di fes
• Wan rili smɔl ɔpa jaw ɛn dat mek i krawd ɛn krawd tit

Finga ɛn fut finga dɛn

• Shɔt finga dɛn
• Big fut finga dεm (fכ di an εn fut) we wayd pas nכmal εn bεn fa frכm di כda fut finga dεm
• Maybe webd finga/toes

Ɔda prɔblɛm dɛn

• Yu nɔ de yɛri fayn: Mɔ pas 50% pan di pikin dɛn nɔ de yɛri fayn.
• Prɔblɛm wit di tit: Prɔblɛm wit di tut alaynɛshɔn ɛn jaw.
• I nɔ kin izi fɔ it: Ɛspɛshali we i smɔl.
• Prɔblɛm fɔ blo: Kɔndishɔn lɛk slip apnea, we kin mek pɔsin stɔp fɔ blo fɔ smɔl tɛm we i de slip.
• Prɔblɛm fɔ si: Di ​​yay we de kɔmɔt na do kin mek di yay dray ɛn nɔ kin ebul fɔ lɔk di yaylid dɛn ɔl.
• divεlכpmεnt εn lanin dilay (especially in tayp 2 εn 3).

Aw fɔ no bɔt dis sik?

Yu dɔktɔ kin no dis sik we yu gɛt bɛlɛ tru ɔltra saund ɔ MRI skan. Afta di pikin dɔn bɔn, di dɔktɔ kin no if di sik de bay we i luk di pikin in skel ɛn in big fut finga dɛn we dɛn de chɛk in bɔdi.

Fɔ no if dis na Pfeiffer syndrome ɔ ɔda sik, yu dɔktɔ kin tɛl yu fɔ du sɔm ɔda tɛst dɛn.

• X-ray ɔ CT skan: Si di rayt we aw di bon dɛn na di skel de alaynɛd.
• Jεnεtik tεst: Tek bכdi כ saliva sεmpl fכ kכnfכm if di jin mכtεshכn we de mek dis de.

Wetin na di tritmɛnt dɛn?

Di tritmɛnt we di pikin kin gɛt kin dipen pan di kayn sik we i gɛt ɛn di sayn dɛm we i gɛt. Dis nid fɔ gɛt sɔpɔt frɔm wan big tim we gɛt spɛshal pipul dɛn, lɛk dɔktɔ dɛn, dɔktɔ dɛn we de du ɔpreshɔn, pipul dɛn we de mɛn pipul dɛn we de tɔk, ɛn pipul dɛn we de mɛn pipul dɛn we gɛt bɔdi . Ɔpreshɔn de ple big pat pan di tritmɛnt.

Ɔpreshɔn fɔ di skel

Bɔku pikin dɛn kin gɛt ɔpreshɔn fɔ kɔrɛkt di shep we dɛn skel gɛt bifo dɛn ol 18 mɔnt . Dis gɛt tu men tin dɛn:

1. Fɔ ridyus di prɛshɔn pan di bren.

2. Gi di bren di spes we i nid fɔ divɛlɔp fri wan.

Afta dis ɔpreshɔn, dɛn go wɛr spɛshal ɛlmɛt fɔ ɛp di skel fɔ wɛl ɛn gɛt di rayt shep.Dɛn gi am fɔ wɛr. Yu go nid fɔ du tu to 4 ɔpreshɔn dɛn lɛk dis insay yu layf.

Midface ɔpreshɔn we dɛn kin du

Sɔm pikin dɛn nid ɔpreshɔn fɔ kɔrɛkt dɛn jaw prɔblɛm ɛn briŋ di bon dɛn we de na di midul pat na dɛn fes fɔ go bifo. Dis kin bi afta di pikin dɔn pas 6 ia.

Tritmɛnt fɔ prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de blo

Sɔm pikin dɛn kin gɛt prɔblɛm fɔ blo bikɔs ɔf di we aw dɛn kin blo. Fɔ dis, .

• Dɛn go aks yu fɔ wɛr spɛshal mask we dɛn kɔl CPAP (Continuous Positive Airway Pressure) we yu de slip.
• Dɛn kin ɔpreshɔn di tɔnsil ɔ adenoyd dɛn.
• We i rili bad, dɛn kin du ɔpreshɔn we dɛn kɔl tracheostomy , we na fɔ mek smɔl ol na di nɛk ɛn put wan tiub dairekt insay di winda paip fɔ mek i ebul fɔ blo.

Ɔda tritmɛnt dɛn

Apat frɔm dis, i go dipen pan wetin di pikin nid, .

• Dental tritmɛnt fɔ dɛnt prɔblɛm
• Ɔpreshɔn fɔ finga prɔblɛm
• Di tin dɛn we dɛn kin yuz fɔ ɛp pɔsin fɔ yɛri ɔ ɔpreshɔn fɔ pɔsin we gɛt prɔblɛm wit yu yɛri
• Tritmɛnt fɔ di prɔblɛm dɛn we pɔsin kin si
• Spich therapy fɔ divɛlɔp yu sabi fɔ tɔk ɛn langwej
• Tin dεm lεk fyzikal tεrapi nid fכ mek yu ebul fכ muv fayn fayn wan.

Aw di layf we pɔsin kin liv kin bi?

Dis na tɔpik we rili sɛnsitiv.

• Dɛn kin trit pikin dɛn we gɛt Tayp 1 Pfeiffer syndrome fayn fayn wan. Dɛn gɛt nɔmal layfspan. Dɛn kin lan fayn, ple fayn, ɛn liv as big pipul dɛn we nɔ gɛt wanwɔd.
• Tayp 2 ɛn 3 na mɔ kɔmpleks. Dɛn pikin ya kin gɛt mɔ prɔblɛm wit aw dɛn de muv, aw dɛn de blo, ɛn aw dɛn de tink. Di prɔblɛm dɛn we kin apin we dɛn de blo ɛn di nyurolɔjik kin mek dɛn layf shɔt. Bɔt if dɛn kɔntinyu fɔ trit dɛn ɛn sɔpɔt dɛn, dɛn kin gɛt bɛtɛ layf.