Wetin na Wolf-Hirschhorn Syndrome? I kin afɛkt yu pikin?

Yu dɔn ɛva yɛri bɔt wan sik we dɛn kɔl Wolf-Hirschhorn Syndrome? Sɔntɛm yu dɔn notis sɔm sayn dɛn na yu pikin ɛn yu nɔ shɔ wetin i bi. If na so i bi, dis atikul go rili impɔtant to yu. Lɛ wi tɔk bɔt am simpul wan, di we we yu go ɔndastand. Nɔ fred, awareness na di fɔs step.

Wetin rili na Wolf-Hirschhorn Syndrome?

Fɔ tɔk am simpul wan, Wolf-Hirschhorn Syndrome na wan sik we nɔ kin apin so ɔltɛm . Na smɔl chenj we de na di kromozom dɛn we de insay wi sɛl dɛn kin mek am. Tink bɔt am lɛk bildin we dɛn bil akɔdin to wan kɔmpleks plan. Dis plan de insay wi jin dɛn. di kromozom dεm na di strכkchכ dεm we de kip dis jεnεtik infכmeshכn.

fכ bi prεsis, dis kכndyushכn we dεn kכl Wolff-Hirschhorn syndrome de apin we di jεnεtik mεtirial dεn lכs כ dεlit na di εnd כf di sכt an fכ di kromozom 4, we de insay כl wi sεl dεm. Na dat mek sɔmtɛm dɛn kin kɔl am ‘4p- syndrome’. di lεta 'p' tinap fכ di sכt an fכ di kromozom.

Dis chenj na di jɛnɛtiks kin afɛkt difrɛn pat dɛn na di pikin in bɔdi, mɔ di at ɛn in bren . I kin mek sɔm pikin dɛn gɛt sik bak. Pikin dɛn we gɛt dis sik kin gɛt sɔm tin dɛn na dɛn fes. Fɔ ɛgzampul, di distans bitwin di yay dɛn kin wayd pas aw i kin bi, di fɔrɛst kin ay, ɛn di ed smɔl pas aw i kin bi. Nɔto dat nɔmɔ, i kin afɛkt di pikin in intɛlektual divɛlɔpmɛnt ɛn di fyzikal divɛlɔpmɛnt bak bad bad wan .

Udat dɛn dis kayn tin kin afɛkt mɔ?

Bikɔs Wolff-Hirschhorn syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, i kin apin to ɛnibɔdi . Bɔku tɛm, dɛn nɔ kin gɛt am frɔm dɛn gret gret granpa dɛn. Dis min se i nɔ de pas frɔm mama ɔ papa to pikin. Bɔku tɛm, di sik kin apin bikɔs ɔf wan random (de novo) kromozom chenj . dis kin apin di tεm we di mama in eg sεl dεm de divεlכp, כ di tεm we di papa in sεl dεm de divεlכp, כ di tεm we di εmbrayo de gro. We dis ``de novo`` chenj de apin, nɔbɔdi na di famili nɔ nid fɔ gɛt di kɔndishɔn bifo.

Bɔt stɔdi dɔn sho se gyal pikin dɛn kin gɛt dis sik smɔl pas bɔy pikin dɛn.

Aw kɔmɔn sik na Wolff-Hirschhorn syndrome?

Dis na tin we nɔ kin apin so ɔltɛm . Statistikin sho se na lɛk wan pan ɛvri 50,000 pikin dɛn we dɛn bɔn layf layf wan kin gɛt dis sik.Dɛn se dis sik kin afɛkt lɛk 100,000 pipul dɛn nɔmɔ. Bɔt dis ɛstimat kin bi ɔnda-ɛstimat. Sɔm pikin dɛn nɔr kin gɛt ɔfishal diagnosis bikɔs dɛn sik nɔr kin so ɔltɛm ɔr nɔr kin gɛt dis sik. Ɔ, dɛn kin misdiagnose di sayn dɛm as sayn dɛm fɔ ɔda jenɛtik kɔndishɔn.

Wetin na di sayn dɛm wae de sho se yu gɛt Wolff-Hirschhorn syndrome?

Di sayn dɛm fɔ Wolff-Hirschhorn syndrome kin difrɛn frɔm wan pikin to ɔda pikin, ɛn aw dɛn kin tranga kin difrɛn . Dɛn sayn ya kin afɛkt difrɛn pat dɛn na di pikin in bɔdi.

Speshal tin dɛn we yu kin si na di fes

Sɔm patikyula fes tin dɛn de we yu kin si pan pikin dɛn we gɛt dis sik. Dɛn tin ya na:

• Cleft palate ɔ cleft lip: Sɔm pikin dɛn kin bɔn wit cleft palate ɔ ɔpa lip.
• Asymmetrical facial features: Dis min se di rayt ɛn lɛft say na di fes nɔ di sem, ɛn difrɛns kin de pan saiz ɔ shep.
• Flat nos brij: Di tap pat pan di nos kin flat.
• Ay fɔrɛst: Di fɔrɛst eria kin ay pas aw i kin bi.
• di yes dεm we dεn sכt כ we nכ fכm fayn: di yes dεm kin sכt lכs pas aw i nכmal כ sכm chenj dεm kin de na di shep fכ di yes dεm.
• Tit we nɔ de ɔ we nɔ nɔmal: Sɔm tit nɔ kin apia ɔ i kin bi se di tit shep nɔ kin apin.
• Smɔl chin (micrognathia): di chin eria kin smɔl pas aw i kin bi.
• Smɔl ed: Di ed kin smɔl pas aw i kin bi.
• di yay dεm we de wayd, we de bכl: di spεs bitwin di yay dεm de bכku, εn di yay dεm kin tan lεk se dεn big sכmtεm εn i de bכl. Sɔntɛnde dɛn kin kɔl dis "Grik wɔriɔ ɛlmɛt apinans," bɔt i nɔ kin luk di sem to ɔlman.

Di tin dɛn we de sho se pɔsin de gro ɛn divɛlɔp

We di pikin stil de na di bɛlɛ, i kin gro smɔl smɔl . Dis kin mek sɔm prɔblɛm dɛn we dɛn bɔn am:

• di mכsul dεm we wik (hypotonia) כ di mכsul dεm we nכ de divεlכp: di pikin kin gεt bכdi we de sכmtεm sכmtεm. Dis kin bi bikɔs di mɔsul dɛn nɔ dɔn ful-ɔp.
• di maylston dεm we de delay fכ divεlכpmεnt: Lεk כda bebi dεm, i kin tek tεm fכ mek tin dεm lεk fכ mek in nεk strכng, fכ rכl ova, sidon, tinap, εn waka apin.
• I nɔ izi fɔ it: Tin dɛn lɛk we i nɔ ebul fɔ gi pikin in bɛlɛ ɔ i nɔ kin izi fɔ swɛla it kin mek di pikin nɔ gɛt di it we i nid.
• I nɔ kin izi fɔ mek di pikin gɛt wet: Bikɔs ɔf dɛn prɔblɛm ya we i kin gɛt fɔ it, di pikin in wet kin slo.

biכs fכ dεn growth εn divεlכpmεnt dεlay, di pikin in...I kin mek bak pɔsin gɛt shɔt ayt .

Di sayn dɛm we gɛt fɔ du wit di bren

Pikin dɛn we dɛn bɔn wit Wolff-Hirschhorn syndrome kin gɛt sɔm kayn prɔblɛm wit dɛn maynd . Dis kin tranga fɔ sɔm pikin dɛn ɛn i kin tranga fɔ ɔda wan dɛn. Stɔdi dɔn sho se dɛn pikin ya kin gɛt gud soshal skil, bɔt dɛn kin gɛt prɔblɛm wit langwej ɛn tɔk to dɛnsɛf . Dis min se pan ɔl we dɛn kin ebul fɔ laf ɛn ple wit ɔda pipul dɛn, i nɔ kin izi fɔ dɛn fɔ tɔk wetin dɛn tink ɛn tɔk.

Dɔn bak, dɛn pikin ya kin gɛt sik we dɛn kɔl seizures ɔl di tɛm we dɛn smɔl . Sɔntɛnde, dɛn sik ya kin bi tin wae pɔrsin nɔr kin gɛt tritmɛnt. Bɔt as di pikin de ol, di frɛkuɛns we dɛn kin gɛt dɛn sik ya kin stɔp ɔ ivin dɔnawe wit am kpatakpata.

Simptom dɛm wae de afɛkt ɔda bɔdi sistɛm dɛm

Wolff-Hirschhorn syndrome kin afɛkt ɔda pat dɛm na pikin in bɔdi bak:

• di spayna kכva (scoliosis כ kyphosis): kכndishכn dεm lεk we di spayna kכva na di sayd כ fכ bεnd fכ fכd (kyphosis) kin apin.
• Dray skin: Di skin kin dray ɔltɛm.
• di at divεlכpmεnt kכmplikεshכn dεm (atrial septal defect): di at kכndyushכn dεm we dεn bכn wit lεk wan ol na di wכl bitwin di atria dεm na di at kin apin.
• Imyun sistεm dεfichεns: Bikɔs di bכdi in rεdכks abiliti fכ rεsist sik, infεkshכn kin apin bכku tεm.
• Prɔblɛm fɔ wok wit di kidni: I kin afɛkt di we aw di kidni de wok.
• Prɔblɛm wit di urinary tract ɛn di riprodaktiv sistɛm (genitourinary tract): Sɔm prɔblɛm wit di urinary tract ɔ di riprodaktiv ɔgan dɛn kin apin.
• Prɔblɛm fɔ si: Sɔm prɔblɛm dɛn kin apin we pɔsin de si.

Wetin mek di sik we dɛn kɔl Wolff-Hirschhorn syndrome kin apin?

as wi bin dכn tכk bכt, di mεn kכz fכ Wolff-Hirschhorn syndrome na di lכs (dεlit) fכ wan pat pan di jεnεtik mεtirial na di sכt an fכ di kromozom 4 (4p) . dis lכs fכ wan pat pan di kromozom de apin we di mama in eg sεl כ di papa in sεl sεl de fכm, כ di fכs stej dεm fכ di εmbrayojεnεsis. dis tεm we di rεprכdaktiv sεl dεm de sheb, di kromozom dεm nכ de kכpi εksakכt, εn wan pat pan wan kromozom de brok εn i de lכs.

Na smɔl tɛm nɔmɔ, wan sik we dɛn kɔl ring kromozom kin kam bak wit Wolff-Hirschhorn syndrome . Dis na we wan kromozom brok na tu ples ɛn di tu ɛnd dɛn we brok jɔyn togɛda fɔ mek wan shep we tan lɛk ring. We dis apin, wan pat pan di kromozom kin brok ɛn pul am.

We pikin lɔs pat pan in kromozom, di jin dɛn we de na da pat de nɔ kin gɛt di instrɔkshɔn dɛn we dɛn nid fɔ bil di bɔdi. Na dat kin mek pɔsin gɛt di sik we dɛn kɔl Wolff-Hirschhorn syndrome. Di sayz fɔ di pat we nɔ de na di kromozom kin difrɛn frɔm wan pɔsin to ɔda pɔsin. If pikin nɔ gɛt big pat pan in nɔmba 4 kromozom, di sayn dɛn kin rili bad.

Dis na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?

כl di tεm (bכt 90%) dis kin bi fכ wan random, nyu we de apin ``de novo'' jεnεtik chenj, bכt insay wan rili sכm pasεnshכn (bכt 10-15%) i kin kכmכt frכm wan mama εn papa . If na so i bi, wan pan di mama ɛn papa (bɔku tɛm na di mama) kin gɛt wan sik we dɛn kɔl balans translocation .

Fɔ tɔk am simpul wan, balans translokeshɔn na we tu ɔ mɔ kromozom dɛn na pɔsin brok, di pis dɛn swap wit dɛnsɛf, ɛn afta dat dɛn kin atak dɛnsɛf bak difrɛn we. Pipul dεm wae gεt dis kayn ``balεns translokeshכn'' kin gεt nכ hεlth prכblεm εn dεn gεt hεlth. Bɔt we dɛn gɛt pikin dɛn, dɛn kin pas wan we we nɔ balans fɔ di translokeshɔn to dɛn pikin dɛn. dis min se di pikin kin gεt εkstra כ mis pat pan di kromozom 4. if dis translokeshכn mek wan rijyכn na di kromozom 4 we dεn kכl 4p16.3 lכs כ ridyus, di pikin go gεt Wolff-Hirschhorn syndrome. sכmtεm, dis ``balεns translכkeshכn'' kin rכn insay famili fכ jεnereshכn.

Aw yu kin no dis sik kɔrɛkt wan?

Yu dɔktɔ kin sɔprayz se yu pikin gɛt Wolff-Hirschhorn syndrome we i smɔl, mɔ if dɛn notis sɔm sayn dɛn lɛk dis:

• Speshal tin dɛn we de na di fes
• Prɔblɛm dɛn we kin apin we pɔsin de gro
• Divɛlɔpmɛnt dilɛys
• Kɔnvulshɔn we pɔsin kin gɛt

If yu gɛt wan ɔ mɔ pan dɛn sik ya, dɔktɔ go mɔs chɛk mɔ.

Wetin na di tɛst dɛm wae de kɔnfirm di diagnosis?

Di men we fɔ kɔnfirm di diagnosis na tru di jenɛtik tɛst . Dɛn kɔl dis kromozom maykro-ɛri tɛst. dεn kin du dis fכ fכnshכn ivin di sכm sכm chenj dεm na di pikin in kromozom dεm. Dis tɛst kin yuz blɔd sɛmpul, saliva sɛmpul, ɔ chɛk chɛk. We dɔktɔ dɛn de yuz dis sampul fɔ chɛk di pikin in DNA.

if dis tεst kכnfכm se dεn dεlit wan spεshal pat pan di kromozom 4, dat na di rijyכn we dεn kכl 4p16.3 , dεn kin no se di pikin gεt Wolff-Hirschhorn syndrome.

Wetin yu de du as tritmɛnt?

Bikɔs Wolff-Hirschhorn syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, naw, no mɛrɛsin nɔ de fɔ am. Bɔt,Difrɛn tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik ɛn ɛp di pikin fɔ liv fayn fayn wan. Dɛn kin plan di tritmɛnt bay di patikyula sayn dɛm we ɛni pikin gɛt.

Di men tritmɛnt dɛn na dɛn wan ya:

• כpεrayshכn: dεn kin nid כpεrayshכn fכ kכrekt sכm abnכmaliti dεm na di pikin in divεlכpmεnt, spεshal wan di at kכmplikεshכn dεm (lεk atrial septal dεfεkt).
• Fyzikal tritmɛnt ɔr ɔkupeshɔn tɛrapi: Dɛn tritmɛnt ya kin ɛp fɔ mek yu mɔsul dɛn gɛt trɛnk, fɔ mek yu balans, ɛn fɔ tren yu fɔ du di wok dɛn we yu kin du ɛvride fɔ yusɛf.
• Speshal edyukeshɔn program: Dɛn kin yuz spɛshal ɛdyukeshɔn program ɛn strateji fɔ ɛp pikin fɔ divɛlɔp in sɛns ɛn fɔ lan.
• Mɛrɛsin: Dɛn kin gi mɛrɛsin fɔ kɔntrol di sik we pɔsin kin gɛt.

Apat frɔm ɔl dɛn tin ya, i kin rili bɛnifit yu famili fɔ gɛt advays bɔt dɛn jɛnɛtiks . Di wan dɛn we de advays yu pikin bɔt di jɛnɛtiks kin ɛp yu fɔ ɔndastand yu pikin in kɔndishɔn fayn fayn wan, ɛn dɛn kin tich yu bɔt aw fɔ sɔpɔt yu pikin ɛn us prɔblɛm dɛn we i go gɛt tumara bambay.

Us kayn spɛshal pipul dɛn a fɔ go fɛn tritmɛnt frɔm?

Pikin we gɛt Wolff-Hirschhorn syndrome go nid fɔ go to difrɛn spɛshal pipul dɛn ɔlsay na in pikin. Dis na fɔ wach dɛn wɛl bɔdi ɛn aw de sik de afɛkt dɛn layf. Afta dɛn dɔn no se dɛn gɛt di sik, bɔku tɛm dɛn go nid fɔ gɛt tɛst ɔltɛm ɛn advays frɔm spɛshal pipul dɛn lɛk:

• Nyurolɔjis: I de chɛk fɔ si if di bren de wok ɛn di tin dɛn we de apin lɛk we pɔsin de sik.
• Di dɔktɔ we de mɛn yu at: I de chɛk fɔ si if yu gɛt at prɔblɛm.
• Dɛntist: Ɔltɛm pe atɛnshɔn to di wɛlbɔdi fɔ yu tit.
• Optometrist: I de si bɔt prɔblɛm dɛn we pɔsin kin si.

Yu praymari kidna, ɔ famili dɔktɔ, kin tɛl yu bak fɔ du blɔd tɛst ɔltɛm fɔ wach tin dɛn lɛk aw yu pikin in kidni de wok we dɛn de chɛk am ɛvri ia.

Yu tink se we de fɔ mek dis tin nɔ apin?

as wi bin dכn tכk bכt, Wolff-Hirschhorn syndrome na di rizulεt fכ wan random, nyu we de apin ``de novo'' jεnεtik mכtεshכn . So, no we nɔ de fɔ mek dis sik nɔ apin. Bɔt nɔ kin apin so ɔltɛm, sɔm pikin dɛn kin gɛt dis sik frɔm dɛn mama ɛn papa. If yu gɛt famili histri bɔt sik dɛn we yu gɛt frɔm yu jɛnɛtiks, ɔ if yu want fɔ no bɔt di prɔblɛm we yu pikin kin gɛt fɔ gɛt wan sik we yu gɛt frɔm yu jɛnɛtiks, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks ɛn aw fɔ advays yu bɔt yu jɛnɛtiks .

If pikin gɛt Wolff-Hirschhorn syndrome, wetin dɛn kin ɛkspɛkt?

Pan ɔl we naw nɔr gɛt mɛrɛsin fɔ Wolff-Hirschhorn syndrome, tritmɛnt fɔ pikin in sik kin mek i gɛt gud tin fɔ du ɛn gi dɛn di sɔpɔt we dɛn nid fɔ liv gladi ɛn wɛlbɔdi layf as dɛn ebul.

Di prɔgnosis fɔ pɔrsin wae gɛt dis sik kin dipen pan aw dɛn sik kin tranga . Di sayn dɛm, mɔ di wan dɛm wae de afɛkt di at ɛn bren, kin mek di layf shɔt. Bɔt if dɛn gɛt di rayt tritmɛnt ɛn kia fɔ dɛn, bɔku pikin dɛn we dɛn bɔn wit dis sik kin liv te dɛn big .

Ustɛm yu fɔ go to dɔktɔ?

If yu pikin gɛt ɛni wan pan dɛn sik ya, go to dɔktɔ wantɛm wantɛm:

• Wund we nɔ wɛl (if di wund dɔn tɔn krɔs ɛn i de kɔmɔt klia ɔ yɔlɔ wata we tan lɛk pus).
• Dɛn kin gɛt sik dɛn we kin tan lɛk kol ɔltɛm (fiva, kɔf, trot we kin at) ɛn dɛn nɔ kin ebul fɔ wɛl izi wan.
• Dilayed divɛlɔpmɛnt maylston dɛm.
• Nɔ it ɔltɛm.
• di at bit we nɔ de bit ɔltɛm, we yu nɔ de blo fayn, ɔ we yu taya pasmak (dεn kin bi sayn dεm fכ wan at kכndyushכn lεk atrial septal difεkt).

Situeshɔn dɛn we dɛn fɔ fɛn tritmɛnt kwik kwik wan

Yu pikin we gɛt Wolf-Hirschhorn syndrome de pan denja fɔ gɛt sik . If di pikin gɛt sik we dɛn kɔl seizure, di pikin kin gɛt dɛn tin ya:

• I nɔ kin no natin fɔ sɔm tɛm fɔ bitwin 30 sɛkɔn ɛn tu minit.
• Di shek we di limb dɛn nɔ kin kɔntrol (kɔnvulshɔn).

If sɔntin lɛk dis apin, kɔl 1990 wantɛm wantɛm ɔ kɛr di pikin go na di Imejɛnsi Tritmɛnt Yunit (ETU) we de nia am .

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

I kin tranga fɔ no se yu pikin gɛt wan sik we de na in bɔdi lɛk Wolf-Hirschhorn syndrome. Bɔt i impɔtant fɔ tɔk bɔt ɛni kwɛstyɔn ɔ tin we de mɔna yu wit yu dɔktɔ dis tɛm. Yu kin aks kwɛstyɔn dɛn lɛk:

• Ɛni sayd ɛfɛkt de pan di mɛrɛsin we dɛn gi di pikin?
• Aw siriɔs di sik we mi pikin gɛt?
• Wetin a fɔ du if mi pikin let fɔ rich di divɛlɔpmɛnt maylston dɛn?
• Mi pikin nid fɔ go to ɔda spɛshal dɔktɔ dɛn?
• Wi kin gɛt kɔyl fɔ wi jɛnɛtiks? Us ɛp i go gi wi?

Fɔ dɔn, tin dɛn we yu fɔ mɛmba

Fɔ no se yu pikin gɛt jɛnɛtik kɔndishɔn lɛk Wolf-Hirschhorn Syndrome kin bi wan prɔblɛm. Bɔt mɛmba se nɔto yu wangren de. Pan ɔl we de sayn dɛm fɔ dis sik kin chenj yu layf, yu dɔktɔ go gi yu tritmɛnt plan. Ɛn, we yu de wok wit ɔda spɛshal pipul dɛn, dɛn go ɛp yu pikin fɔ liv gladi ɛn wɛlbɔdi layf.

Di tin we impɔtant pas ɔl na fɔ no gud gud wan bɔt yu pikin in kɔndishɔn ɛn gi am di sɔpɔt we i nid. Fɔ gɛt kɔyl fɔ yu jɛnɛtiks go gi yu bak big trɛnk pan dis joyn. Fes dis chalenj witout fred, wit strong maynd. Wi de wish yu ɛn yu pikin di bɛst lɔk!

` Wolf-Hirschhorn Syndrome, jεnεtik sik dεm, kromozom dεm, kromozom 4, 4p- sεndrכm, divεlכpmεnt dεlay, fεs fכm, sεiz, jεnεtik kכnsεl