Wetin yu fɔ no bɔt Barber Say Syndrome: Yu pikin gɛt dɛn sik ya?

Bebi we dɛn jɔs bɔn kin rili gladi fɔ famili, nɔto so? Ɔlman de wet fɔ si di pikin in kiut. Bɔt, sɔm tɛm, ivin smɔl smɔl, we wi si sɔm chenj dɛn na wi smɔl pikin in apia, mama ɔ papa kin rili wɔri ɛn fred. Jɔs lɛk dat, Barber Say Syndrome na wan jenɛtik kɔndishɔn we kin apin pan smɔl pipul dɛn na di wɔl. Lɛ wi tɔk bɔt dis smɔl smɔl tide, bikɔs i rili impɔtant fɔ no bɔt dis.

Wetin na di sik we dɛn kɔl Barber Say Syndrome?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Barber-Sey syndrome na wan sik we nɔ kin apin so ɔltɛm . I bɔn pikin, we min se i de we dɛn bɔn am . dis kכndyushכn kin mek sכm chenj כ malfכmeshכn dεm na di nyu bכbi in bכdi, spεshal wan na di εksternal we aw i de luk, lεk in fes.

bכt di mכst imכtant tin fכ mεmba ya na dat dis kכndyushכn nכ kin afekt di pikin in insay כgan dεm כ di kכgnitiv abiliti dεm (cognition) . Dis min se di we aw di pikin de tink ɛn lan kin kɔntinyu fɔ bi nɔmal. Bɔt di kayn sik ɛn aw dɛn kin tranga kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm bebi dɛn kin gɛt:

• Difrɛn tin dɛn we pɔsin kin si na in fes.
• di ia we de gro pasmak (hypertrichosis) .
• Skin we rili tan, we kin brok (atrophic) .

Udat kin gɛt dis sik? Aw i kɔmɔn?

Bikɔs Barber-Say syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, i kin afɛkt ɛnibɔdi. Bɔt, na wan sik we nɔ kin apin so ɔltɛm . I nɔ kin pas wan pan ɛvri milyɔn pikin dɛn we dɛn bɔn na di wɔl. Sayɛnsman dɛn biliv se na kɔntri lɛk Amɛrika, na bitwin 1 ɛn 300 pipul dɛn we gɛt dis sik. So, yu kin imajin aw dis nɔ kin apin so ɔltɛm, nɔto so?

Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Aw yu no am?

Yu kin si di sayn dɛm fɔ Barber-Say syndrome we dɛn bɔn am (congenital) . Bɔt lɛk aw wi bin dɔn tɔk, nɔto ɔl pikin dɛn go gɛt di sem sayn, ɛn aw di sik kin tranga kin difrɛn bak.

Speshal tin dɛn we pɔsin kin si na di fes

Dis sik kin mek sɔm chenj dɛn we pɔsin kin notis na di pikin in fes. Fɔ ɛgzampul:

• Di aylash nɔ de ɔ i nɔ de divɛlɔp fayn.
• Ay dɛn we gɛt difrɛn difrɛn say dɛn .
• Nɔ gɛt aylash.
• Aylid dɛn we dɔn tɔn na do .
• di gap bitwin di kכna dεm na di pikin in yay usay di כp εn lכw aylid de mit big pas aw i nכmal.
• Nos we dɔn tɔn ɔp .
• Wan big, rawnd nos.
• Wan big brij we de na di nos.
• Waid mɔt.
• Di tut we kin bɔn let .

Ɔda tin dɛn we pɔsin kin du na in bɔdi

Apat frɔm di tin dɛn we yu de si na yu fes, yu kin si ɔda tin dɛn bak lɛk:

• di ia we nכ de gro pasmak, we de gro pasmak (hypertrichosis) oba bכku pat pan di pikin in bכdi.
• Di skin kin rili lɔs ɛn i kin sag . dis skin de elastik pas nכmal εn i de kam bak to in כrijinal shep we i strεch (hyperextensible skin).
• Di we aw pɔsin kin yɛri fayn .
• Absɛns ɔ rili smɔl brɔst tisu.
• di nipl dεm nכ de כ nכ de divεlכp.
• Fɔ nɔ ebul fɔ go bifo . Dis min se di pikin de gɛt mɔ wet ɛn i de gro smɔl smɔl.

Wetin mek dis tin kin apin? Wetin na di rizin dɛn?

di men kכz fכ Barber-Say sεndrכm na di jεnεtik chenj כ mכtεshכn na di jin `TWIST2` . dis jin de mek wan protin we de involv fכ mek di bon sεl dεm na wi bכdi gro. So, we difεkt de na dis jin, di sayn dεm we de sho se dis sik de sho.

Bikɔs dis sik nɔ kin bɔku, dɛn nɔ kin du bɔku risach bɔt di we aw pɔsin kin gɛt am. Bɔku tɛm, dɛn kin si se we pikin gɛt wan jin we dɔn chenj frɔm wan pan in mama ɛn papa, i kin izi fɔ mek di pikin gɛt di sik . dis dεn kכl am כtosom dכminant patεn .

כltu, sכmtεm i kin inhεrit insay wan כtosom rεsεsiv patεn . dis min se di pikin go כnli divεlכp di kכndyushכn if dεn gεt di mutated jin frכm dεn tu mama εn papa . כda kes dεm, pikin kin divεlכp di kכndyushכn bikoz fכ wan nyu mכtεshכn (de novo mכtεshכn) na di TWIST2 jin , we nכ wan pan di famili nכ bin gεt di sik bifo.

Aw dɛn kin no dis?

Yu pikin in dɔktɔ go fɔs du in bɔdi ɛgzam . We dɛn de du dis ɛgzamin, dɛn go luk fɔ patikyula sayn dɛn fɔ di sik, lɛk we dɛn fes chenj, di ia we de gro pasmak, ɛn di we aw di skin tan. Dɛn go aks bak bɔt yu biyolojikal famili istri.

Fɔ mek dɛn no se di pɔsin gɛt di sik, di dɔktɔ go tɛl dɛn fɔ du tɛst fɔ no if pɔsin gɛt di sik . Dis min se dɛn fɔ tek smɔl sɛmpul pan di pikin in blɔd ɛn luk fɔ chenj dɛn na in jɛnɛtiks. spεshal wan, dεn de luk f כ wan mכtεshכn na di `TWIST2` jin we wi bin dכn mεnshכn bifo tεm .

Wetin na di tritmɛnt dɛn?

Fɔ tɔk tru, no patikyula mɛrɛsin nɔ de yet fɔ mɛn di sik we dɛn kɔl Barber-Say syndrome . Bɔt i go dipen pan di sayn dɛn we di pikin gɛt, dɛn kin mek wan patikyula tritmɛnt plan fɔ ɛni pikin.Yu pikin in pikin dɛn dɔktɔ go wok wit wan tim we gɛt spɛshal pipul dɛn fɔ du dis. Dɛn tin ya kin bi:

• Ophthalmologist : Na dɔktɔ we de no ɛn trit sik dɛn we gɛt fɔ du wit di yay ɛn di we aw pɔsin de si.
• Dermatologist : Na dɔktɔ we de trit sik dɛn we gɛt fɔ du wit di skin, ia, ɛn nel.
• Jɛnɛtik kɔlnɔ : Na wɛlbɔdi biznɛs pɔsin we de ɛp yu fɔ ɔndastand di risk fɔ gɛt jenɛtik sik ɔ pas am to yu pikin.

As ɔda tritmɛnt, sɔm kayn plastic ɔpreshɔn dɛn de we dɛn kin du fɔ kɔrɛkt di tin dɛn we nɔ fayn na di pikin in bɔdi. Bɔku pipul dɛn kin si big difrɛns bifo ɛn afta dɛn ɔpreshɔn ya. Dɛn ɔpreshɔn ya kin bi:

• Dɛnt ɔpreshɔn we gɛt fɔ du wit di fes, mɔt, ɔ jaw (maksilofashal ɔpreshɔn).
• Plastik ɔpreshɔn na di fes, lɛk fɔ put sɔntin insay di chɛst (malar implants).
• Aylid ɔpreshɔn (`blepharoplasty` ɔ `tarsorrhaphy`).
• Ɔpreshɔn fɔ shep di nos bak (raynoplasti).
• Lip ɔpreshɔn `(cheiloplasty)`.
• Jaw kɔrɛkshɔn ɔpreshɔn (ɔtognatik ɔpreshɔn).
• Chin ɔpreshɔn (genioplasti) we dɛn kin du.
• di brεst augmentεshכn (dεn kin du dis afta di puberty).

Ɔda tritmɛnt dɛn we yu kin gɛt kin bi:

• Laser tεrapi fכ di ia we de gro pasmak (hypertrichosis).
• Dɛn kin trit ɔda prɔblɛm dɛn we kin mit yu yay wit atifishal kray wata, tin dɛn we dɛn kin yuz fɔ mek yu yay lɔbrik, ɛn antibayɔtiks .

Yu tink se we de fɔ mek dis nɔ apin?

Bikɔs Barber-Say syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, no we nɔ de fɔ mek i nɔ apin . Bɔt if yu de op fɔ bɔn pikin, i impɔtant fɔ tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks . We yu de tɛst yu pikin dɛn jɛnɛtiks, dat kin ɛp yu fɔ ɔndastand di prɔblɛm we yu gɛt fɔ pas sɔm jin dɛn to yu pikin.

Wetin na di layf we pikin we gɛt Barber Say Syndrome kin liv?

Pan ɔl we dis kin tan lɛk big lod fɔ yɛri, di layf we pɔsin we gɛt Barber-Se syndrome kin liv na nɔmal tin . Ivin if yu pikin gɛt prɔblɛm wit in bɔdi, lɛk we i nɔ ebul fɔ du natin lɛk aw wi bin dɔn tɔk, bɔku tɛm dis sik nɔ kin afɛkt in bɔdi ɔ in sɛns . fכ dat, di pikin in mכtalman divεlכpmεnt εn di tכk divεlכpmεnt fכ divεlכp nכmal wan.

Bɔt te go, di wɛlbɔdi fɔ yu pikin fɔ lɔng tɛm go dipen pan di kayn sik ɛn aw i siriɔs. So, i bεst fɔ aks yu dɔktɔ bɔt di patikyula layf we yu pikin go liv.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

Na nɔmal tin fɔ gɛt bɔku kwɛstyɔn dɛn na yu maynd pan tɛm lɛk dis. Aks yu pikin in dɔktɔ kwɛstyɔn dɛn lɛk dis fɔ ɛp yu fɔ sɔlv di tin dɛn we de mɔna yu:

• Aw dis sik nɔ kin apin so ɔltɛm na mi pikin?
• Aw siriɔs di sik dɛn we mi pikin gɛt?
• Us kayn tritmɛnt mi pikin nid?
• Us kayn ɔpreshɔn mi pikin go nid?
• Wetin na di layf we mi pikin de liv?

Fɔ bi mama ɔ papa fɔ di fɔs tɛm kin rili tranga. Fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm we i kam pan in jɛnɛtiks kin tranga mɔ. If yu pikin gɛt Barber-Sey syndrome, tink bɔt fɔ jɔyn wan sɔpɔt grup fɔ famili dɛn we gɛt pikin dɛn we nɔ kin gɛt dis sik . Dis kayn grup kin bi fayn we fɔ fɛn ansa to yu kwɛstyɔn dɛn ɛn gɛt op fɔ di sik we yu pikin gɛt.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Wi op se wetin wi dɔn tɔk bɔt dɔn gi yu sɔm tin fɔ no bɔt Barber Say Syndrome. Mɛmba se ilɛksɛf yu pikin gɛt sɔm chenj dɛn na in bɔdi, di we aw i de tink fɔ no mɔ fɔ bi nɔmal . Dis min se yu pikin fɔ ebul fɔ liv nɔmal layf ɛn gɛt bɔku tin dɛn fɔ du .

Di tin we impɔtant pas ɔl na fɔ mek yu nɔ fred, gɛt di rayt advays to yu pikin, ɛn gi yu pikin di lɔv ɛn kia we i nid. If yu gɛt ɛni kwɛstyɔn, tɔk to yu dɔktɔ dɛn opin wan. Dɛn rɛdi fɔ ɛp yu.

Wi op se dis infɔmeshɔn bin yusful to yu!

` Barber Say Syndrome, jεnεtik sik dεm, sik dεm we nכ kin apin, pikin hεlth, fεs dεm we de fכm, skin sik, jεnεtik kכnsεl